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    TRERF1 transcriptional regulating factor 1 [ Homo sapiens (human) ]

    Gene ID: 55809, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TRERF1provided by HGNC
    Official Full Name
    transcriptional regulating factor 1provided by HGNC
    Primary source
    HGNC:HGNC:18273
    See related
    Ensembl:ENSG00000124496 MIM:610322; AllianceGenome:HGNC:18273
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAPA; BCAR2; TREP132; TReP-132; HSA277276; dJ139D8.5
    Summary
    This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in testis (RPKM 2.9), bone marrow (RPKM 2.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRERF1 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42224931..42452224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42053174..42280526, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42192669..42419962, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.2919 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2920 Neighboring gene guanylate cyclase activator 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42183711-42184313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42184314-42184915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24544 Neighboring gene uncharacterized LOC105375061 Neighboring gene mitochondrial ribosomal protein S10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24545 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:42209608-42210190 Neighboring gene uncharacterized LOC124901316 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42225117-42225844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42227922-42228442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42228443-42228963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42236725-42237554 Neighboring gene NANOG hESC enhancer GRCh37_chr6:42237822-42238387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42247165-42247677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42283002-42283669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24552 Neighboring gene uncharacterized LOC124901512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24554 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42408971-42409689 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42409690-42410407 Neighboring gene uncharacterized LOC107986596 Neighboring gene arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17204 Neighboring gene ribosomal protein L36a pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a novel breast-cancer-anti-estrogen-resistance (BCAR2) locus by cell-fusion-mediated gene transfer in human breast-cancer cells. Dorssers LC, et al. Int J Cancer, 1997 Aug 7. PMID 9259413
    2. TReP-132 controls cell proliferation by regulating the expression of the cyclin-dependent kinase inhibitors p21WAF1/Cip1 and p27Kip1. Gizard F, et al. Mol Cell Biol, 2005 Jun. PMID 15899840, Free PMC Article
    3. Novel TRERF1 mutations in Chinese patients with ovarian endometriosis. Cao B, et al. Mol Med Rep, 2018 Apr. PMID 29393434
    4. TReP-132 is a novel progesterone receptor coactivator required for the inhibition of breast cancer cell growth and enhancement of differentiation by progesterone. Gizard F, et al. Mol Cell Biol, 2006 Oct. PMID 17015480, Free PMC Article
    5. The transcriptional regulating protein of 132 kDa (TReP-132) differentially influences steroidogenic pathways in human adrenal NCI-H295 cells. Gizard F, et al. J Mol Endocrinol, 2004 Apr. PMID 15072559

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the present study was the first to identify 2 novel, potentially 'diseasecausing' TRERF1 somatic mutations in the endometriotic lesions in 2 out of 92 patients with ovarian endometriosis; therefore, TRERF1 mutations may be involved in the pathogenesis of ovarian endometriosis.
      Title: Novel TRERF1 mutations in Chinese patients with ovarian endometriosis.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. TReP-132 is a basal cell cycle regulatory protein interacting with Sp1 to activate the p21 and p27 gene promoters.
      Title: TReP-132 controls cell proliferation by regulating the expression of the cyclin-dependent kinase inhibitors p21WAF1/Cip1 and p27Kip1.
    6. identify TReP-132 as a coactivator of progesterone receptor mediating the growth-inhibitory and differentiation effects of progesterone on breast cancer cells
      Title: TReP-132 is a novel progesterone receptor coactivator required for the inhibition of breast cancer cell growth and enhancement of differentiation by progesterone.
    7. TReP-132 interacts with steroidogenic factor-1 (SF-1) through specific domains; and along with the interaction with CBP/p300 these factors are postulated to form a complex to regulate expression of the P450scc gene.
      Title: Function of the transcriptional regulating protein of 132 kDa (TReP-132) on human P450scc gene expression.
    8. TReP-132 is a trans-acting factor of genes involved in adrenal glucocorticoid, C(19) steroid and estrogen production.
      Title: The transcriptional regulating protein of 132 kDa (TReP-132) differentially influences steroidogenic pathways in human adrenal NCI-H295 cells.
    9. TReP-132 plays a role in regulating p450scc expression with steroidogenic factor-1 and CBP/p300
      Title: The transcriptional regulating protein of 132 kDa (TReP-132) enhances P450scc gene transcription through interaction with steroidogenic factor-1 in human adrenal cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear progesterone receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to progesterone stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in progesterone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    part_of histone deacetylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcriptional-regulating factor 1
    Names
    breast cancer anti-estrogen resistance 2
    rapa-1
    rapa-2
    transcriptional regulating protein 132
    zinc finger protein rapa
    zinc finger transcription factor TReP-132

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297573.2 → NP_001284502.1  transcriptional-regulating factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001284502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AF297872, AL096814, AL450325, AM404182
      Consensus CDS
      CCDS75455.1
      UniProtKB/TrEMBL
      B3KXK2, Q05GC8
      Related
      ENSP00000439689.1, ENST00000541110.5
      Conserved Domains (5) summary
      smart00717
      Location:908 → 953
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      sd00017
      Location:1035 → 1057
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:801 → 855
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:909 → 953
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    2. NM_001391983.1 → NP_001378912.1  transcriptional-regulating factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL096814, AL138735, AL450325
      Consensus CDS
      CCDS4867.1
      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9
      UniProtKB/TrEMBL
      B3KXK2
      Related
      ENSP00000512292.1, ENST00000695966.1
      Conserved Domains (4) summary
      sd00017
      Location:1015 → 1037
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:781 → 835
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:889 → 933
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    3. NM_001391984.1 → NP_001378913.1  transcriptional-regulating factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL096814, AL138735, AL450325
      Consensus CDS
      CCDS93924.1
      UniProtKB/TrEMBL
      B3KXK2
      Conserved Domains (3) summary
      pfam01448
      Location:698 → 752
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:806 → 850
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    4. NM_001395490.1 → NP_001382419.1  transcriptional-regulating factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL096814, AL138735, AL450325
      Consensus CDS
      CCDS93925.1
      UniProtKB/TrEMBL
      A0A8Q3SI57, B3KXK2
      Related
      ENSP00000512293.1, ENST00000695948.1
      Conserved Domains (2) summary
      sd00018
      Location:1098 → 1120
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21498
      Location:889 → 933
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    5. NM_033502.4 → NP_277037.1  transcriptional-regulating factor 1 isoform 2

      See identical proteins and their annotated locations for NP_277037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice donor site in the 5' coding region, compared to variant 1. Variant 2 encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AF297872, AL096814, AL450325, AM404182, AM404183
      Consensus CDS
      CCDS4867.1
      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9
      UniProtKB/TrEMBL
      B3KXK2
      Related
      ENSP00000362013.4, ENST00000372922.8
      Conserved Domains (4) summary
      sd00017
      Location:1015 → 1037
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:781 → 835
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:889 → 933
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      42224931..42452224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419067.1 → XP_047275023.1  transcriptional-regulating factor 1 isoform X6

    2. XM_047419061.1 → XP_047275017.1  transcriptional-regulating factor 1 isoform X5

    3. XM_047419048.1 → XP_047275004.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    4. XM_047419044.1 → XP_047275000.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    5. XM_047419033.1 → XP_047274989.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    6. XM_047419028.1 → XP_047274984.1  transcriptional-regulating factor 1 isoform X1

    7. XM_047419066.1 → XP_047275022.1  transcriptional-regulating factor 1 isoform X6

    8. XM_047419062.1 → XP_047275018.1  transcriptional-regulating factor 1 isoform X5

    9. XM_047419053.1 → XP_047275009.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    10. XM_047419041.1 → XP_047274997.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    11. XM_047419036.1 → XP_047274992.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    12. XM_047419031.1 → XP_047274987.1  transcriptional-regulating factor 1 isoform X1

    13. XM_047419055.1 → XP_047275011.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    14. XM_047419068.1 → XP_047275024.1  transcriptional-regulating factor 1 isoform X6

    15. XM_047419060.1 → XP_047275016.1  transcriptional-regulating factor 1 isoform X5

    16. XM_047419046.1 → XP_047275002.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    17. XM_047419035.1 → XP_047274991.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    18. XM_047419029.1 → XP_047274985.1  transcriptional-regulating factor 1 isoform X1

    19. XM_047419065.1 → XP_047275021.1  transcriptional-regulating factor 1 isoform X6

      Related
      ENSP00000346285.2, ENST00000354325.2

    20. XM_047419051.1 → XP_047275007.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    21. XM_047419047.1 → XP_047275003.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    22. XM_047419037.1 → XP_047274993.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    23. XM_017011054.2 → XP_016866543.1  transcriptional-regulating factor 1 isoform X6

      UniProtKB/TrEMBL
      B3KXK2
      Conserved Domains (5) summary
      smart00717
      Location:805 → 850
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      sd00017
      Location:932 → 954
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:698 → 752
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:806 → 850
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    24. XM_017011052.2 → XP_016866541.1  transcriptional-regulating factor 1 isoform X5

      UniProtKB/TrEMBL
      B3KXK2
      Conserved Domains (3) summary
      pfam01448
      Location:698 → 752
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:806 → 850
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    25. XM_017011049.2 → XP_016866538.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9
      UniProtKB/TrEMBL
      B3KXK2
      Conserved Domains (4) summary
      sd00017
      Location:1015 → 1037
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:781 → 835
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:889 → 933
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    26. XM_017011048.2 → XP_016866537.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      B3KXK2, Q05GC8
      Conserved Domains (5) summary
      smart00717
      Location:908 → 953
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      sd00017
      Location:1035 → 1057
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01448
      Location:801 → 855
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:909 → 953
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    27. XM_017011046.2 → XP_016866535.1  transcriptional-regulating factor 1 isoform X1

      UniProtKB/TrEMBL
      B3KXK2
      Conserved Domains (4) summary
      smart00717
      Location:908 → 953
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam01448
      Location:801 → 855
      ELM2; ELM2 domain
      pfam13912
      Location:514 → 534
      zf-C2H2_6; C2H2-type zinc finger
      cl21498
      Location:909 → 953
      SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...

    28. XM_047419063.1 → XP_047275019.1  transcriptional-regulating factor 1 isoform X6

    29. XM_047419057.1 → XP_047275013.1  transcriptional-regulating factor 1 isoform X5

    30. XM_047419050.1 → XP_047275006.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    31. XM_047419039.1 → XP_047274995.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    32. XM_047419032.1 → XP_047274988.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    33. XM_047419026.1 → XP_047274982.1  transcriptional-regulating factor 1 isoform X1

    34. XM_047419054.1 → XP_047275010.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    35. XM_047419045.1 → XP_047275001.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    36. XM_047419064.1 → XP_047275020.1  transcriptional-regulating factor 1 isoform X6

    37. XM_047419058.1 → XP_047275014.1  transcriptional-regulating factor 1 isoform X5

    38. XM_047419049.1 → XP_047275005.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    39. XM_047419040.1 → XP_047274996.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    40. XM_047419034.1 → XP_047274990.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    41. XM_047419030.1 → XP_047274986.1  transcriptional-regulating factor 1 isoform X1

    42. XM_047419069.1 → XP_047275025.1  transcriptional-regulating factor 1 isoform X6

    43. XM_047419059.1 → XP_047275015.1  transcriptional-regulating factor 1 isoform X5

      Related
      ENSP00000339438.2, ENST00000340840.6

    44. XM_047419056.1 → XP_047275012.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    45. XM_047419043.1 → XP_047274999.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    46. XM_047419038.1 → XP_047274994.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    47. XM_047419027.1 → XP_047274983.1  transcriptional-regulating factor 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42053174..42280526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355918.1 → XP_054211893.1  transcriptional-regulating factor 1 isoform X6

    2. XM_054355910.1 → XP_054211885.1  transcriptional-regulating factor 1 isoform X5

    3. XM_054355898.1 → XP_054211873.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    4. XM_054355892.1 → XP_054211867.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    5. XM_054355877.1 → XP_054211852.1  transcriptional-regulating factor 1 isoform X1

    6. XM_054355917.1 → XP_054211892.1  transcriptional-regulating factor 1 isoform X6

    7. XM_054355902.1 → XP_054211877.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    8. XM_054355891.1 → XP_054211866.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    9. XM_054355885.1 → XP_054211860.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    10. XM_054355904.1 → XP_054211879.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    11. XM_054355888.1 → XP_054211863.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    12. XM_054355912.1 → XP_054211887.1  transcriptional-regulating factor 1 isoform X5

    13. XM_054355880.1 → XP_054211855.1  transcriptional-regulating factor 1 isoform X1

    14. XM_054355919.1 → XP_054211894.1  transcriptional-regulating factor 1 isoform X6

    15. XM_054355909.1 → XP_054211884.1  transcriptional-regulating factor 1 isoform X5

    16. XM_054355894.1 → XP_054211869.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    17. XM_054355884.1 → XP_054211859.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    18. XM_054355878.1 → XP_054211853.1  transcriptional-regulating factor 1 isoform X1

    19. XM_054355916.1 → XP_054211891.1  transcriptional-regulating factor 1 isoform X6

    20. XM_054355901.1 → XP_054211876.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    21. XM_054355896.1 → XP_054211871.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    22. XM_054355886.1 → XP_054211861.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    23. XM_054355913.1 → XP_054211888.1  transcriptional-regulating factor 1 isoform X6

    24. XM_054355906.1 → XP_054211881.1  transcriptional-regulating factor 1 isoform X5

    25. XM_054355897.1 → XP_054211872.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    26. XM_054355881.1 → XP_054211856.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    27. XM_054355875.1 → XP_054211850.1  transcriptional-regulating factor 1 isoform X1

    28. XM_054355914.1 → XP_054211889.1  transcriptional-regulating factor 1 isoform X6

    29. XM_054355907.1 → XP_054211882.1  transcriptional-regulating factor 1 isoform X5

    30. XM_054355900.1 → XP_054211875.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    31. XM_054355889.1 → XP_054211864.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    32. XM_054355882.1 → XP_054211857.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    33. XM_054355874.1 → XP_054211849.1  transcriptional-regulating factor 1 isoform X1

    34. XM_054355903.1 → XP_054211878.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    35. XM_054355893.1 → XP_054211868.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    36. XM_054355920.1 → XP_054211895.1  transcriptional-regulating factor 1 isoform X6

    37. XM_054355905.1 → XP_054211880.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    38. XM_054355895.1 → XP_054211870.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    39. XM_054355887.1 → XP_054211862.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    40. XM_054355911.1 → XP_054211886.1  transcriptional-regulating factor 1 isoform X5

    41. XM_054355879.1 → XP_054211854.1  transcriptional-regulating factor 1 isoform X1

    42. XM_054355915.1 → XP_054211890.1  transcriptional-regulating factor 1 isoform X6

    43. XM_054355899.1 → XP_054211874.1  transcriptional-regulating factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q05GC6, Q7Z6T2, Q7Z6T3, Q96PN7, Q9NQ72, Q9NQ73, Q9NUN9

    44. XM_054355890.1 → XP_054211865.1  transcriptional-regulating factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SI57

    45. XM_054355883.1 → XP_054211858.1  transcriptional-regulating factor 1 isoform X2

      UniProtKB/TrEMBL
      Q05GC8

    46. XM_054355908.1 → XP_054211883.1  transcriptional-regulating factor 1 isoform X5

    47. XM_054355876.1 → XP_054211851.1  transcriptional-regulating factor 1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018415.1: Suppressed sequence

      Description
      NM_018415.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_033501.1: Suppressed sequence

      Description
      NM_033501.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PN7.1 GenPept UniProtKB/Swiss-Prot:Q96PN7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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