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    ZNF227 zinc finger protein 227 [ Homo sapiens (human) ]

    Gene ID: 7770, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF227provided by HGNC
    Official Full Name
    zinc finger protein 227provided by HGNC
    Primary source
    HGNC:HGNC:13020
    See related
    Ensembl:ENSG00000131115 AllianceGenome:HGNC:13020
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.1), testis (RPKM 3.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF227 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44207547..44237268)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47030346..47060129)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44716685..44741421)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44645889-44646479 Neighboring gene zinc finger protein 234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14757 Neighboring gene zinc finger protein 226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14759 Neighboring gene uncharacterized LOC124904726 Neighboring gene zinc finger protein 233 Neighboring gene mitochondrial ribosomal protein S15 pseudogene 2 Neighboring gene zinc finger protein 235

    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. Isolation of cDNA clones for 42 different Krüppel-related zinc finger proteins expressed in the human monoblast cell line U-937. Abrink M, et al. DNA Cell Biol, 1995 Feb. PMID 7865130
    2. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Shannon M, et al. Genome Res, 2003 Jun. PMID 12743021, Free PMC Article
    3. Identification of novel ARF binding proteins by two-hybrid screening. Tompkins V, et al. Cell Cycle, 2006 Mar. PMID 16582619
    4. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
    5. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 227

    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_001289166.2 → NP_001276095.1  zinc finger protein 227 isoform a

      See identical proteins and their annotated locations for NP_001276095.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK092253, AL833012
      Consensus CDS
      CCDS12636.1
      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6
      Related
      ENSP00000482749.1, ENST00000621083.4
      Conserved Domains (4) summary
      smart00349
      Location:23 → 83
      KRAB; krueppel associated box
      COG5048
      Location:406 → 779
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:522 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:342 → 363
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001289167.2 → NP_001276096.1  zinc finger protein 227 isoform b

      See identical proteins and their annotated locations for NP_001276096.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform.
      Source sequence(s)
      AK316048, AL833012, DA494064
      Consensus CDS
      CCDS74388.1
      UniProtKB/Swiss-Prot
      Q86WZ6
      UniProtKB/TrEMBL
      Q658S5
      Conserved Domains (4) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:271 → 655
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:471 → 491
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:484 → 508
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001289168.2 → NP_001276097.1  zinc finger protein 227 isoform b

      See identical proteins and their annotated locations for NP_001276097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform.
      Source sequence(s)
      AK299266, AL833012, DA494064
      Consensus CDS
      CCDS74388.1
      UniProtKB/Swiss-Prot
      Q86WZ6
      UniProtKB/TrEMBL
      Q658S5
      Related
      ENSP00000467577.1, ENST00000589005.5
      Conserved Domains (4) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:271 → 655
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:471 → 491
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:484 → 508
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001289169.2 → NP_001276098.1  zinc finger protein 227 isoform b

      See identical proteins and their annotated locations for NP_001276098.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 3, 4, and 5 encode the same isoform.
      Source sequence(s)
      AK092253, AL833012, DA494064, DA929840
      Consensus CDS
      CCDS74388.1
      UniProtKB/Swiss-Prot
      Q86WZ6
      UniProtKB/TrEMBL
      Q658S5
      Related
      ENSP00000375823.2, ENST00000391961.6
      Conserved Domains (4) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:271 → 655
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:471 → 491
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:484 → 508
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001289170.2 → NP_001276099.1  zinc finger protein 227 isoform c

      See identical proteins and their annotated locations for NP_001276099.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in its 5' UTR, uses a downstream start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a. Variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AK092253, AK300576, AL833012, DA494064
      UniProtKB/TrEMBL
      B7Z6M2
      Conserved Domains (3) summary
      COG5048
      Location:243 → 627
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:443 → 463
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:456 → 480
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001289171.2 → NP_001276100.1  zinc finger protein 227 isoform c

      See identical proteins and their annotated locations for NP_001276100.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in its 5' UTR, uses a downstream start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a. Variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AL833012, DA494064, DC341721
      UniProtKB/TrEMBL
      B7Z6M2
      Conserved Domains (3) summary
      COG5048
      Location:243 → 627
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:443 → 463
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:456 → 480
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001289172.2 → NP_001276101.1  zinc finger protein 227 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AL833012, DA494064, DA514267
      UniProtKB/TrEMBL
      Q658S5
      Conserved Domains (3) summary
      COG5048
      Location:225 → 609
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:425 → 445
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:438 → 462
      zf-H2C2_2; Zinc-finger double domain

    8. NM_001289173.2 → NP_001276102.1  zinc finger protein 227 isoform e

      See identical proteins and their annotated locations for NP_001276102.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in its 5' UTR, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (e) is shorter, compared to isoform a.
      Source sequence(s)
      AL833012, BU153285, DA494064
      UniProtKB/TrEMBL
      Q658S5
      Conserved Domains (5) summary
      smart00349
      Location:23 → 65
      KRAB; krueppel associated box
      COG5048
      Location:294 → 678
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:23 → 62
      KRAB; KRAB box
      pfam13465
      Location:507 → 531
      zf-H2C2_2; Zinc-finger double domain

    9. NM_182490.3 → NP_872296.1  zinc finger protein 227 isoform a

      See identical proteins and their annotated locations for NP_872296.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL833012, BC047570, DA494064
      Consensus CDS
      CCDS12636.1
      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6
      Related
      ENSP00000321049.6, ENST00000313040.12
      Conserved Domains (4) summary
      smart00349
      Location:23 → 83
      KRAB; krueppel associated box
      COG5048
      Location:406 → 779
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:522 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:342 → 363
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44207547..44237268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439377.1 → XP_047295333.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6

    2. XM_047439383.1 → XP_047295339.1  zinc finger protein 227 isoform X3

    3. XM_011527289.3 → XP_011525591.1  zinc finger protein 227 isoform X1

      See identical proteins and their annotated locations for XP_011525591.1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6
      Conserved Domains (4) summary
      smart00349
      Location:23 → 83
      KRAB; krueppel associated box
      COG5048
      Location:406 → 779
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:522 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:342 → 363
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047439382.1 → XP_047295338.1  zinc finger protein 227 isoform X3

    5. XM_017027266.2 → XP_016882755.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6
      Conserved Domains (4) summary
      smart00349
      Location:23 → 83
      KRAB; krueppel associated box
      COG5048
      Location:406 → 779
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:522 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:342 → 363
      zf-H2C2_2; Zinc-finger double domain

    6. XM_047439380.1 → XP_047295336.1  zinc finger protein 227 isoform X2

    7. XM_005259232.4 → XP_005259289.1  zinc finger protein 227 isoform X1

      See identical proteins and their annotated locations for XP_005259289.1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6
      Conserved Domains (4) summary
      smart00349
      Location:23 → 83
      KRAB; krueppel associated box
      COG5048
      Location:406 → 779
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:522 → 542
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:342 → 363
      zf-H2C2_2; Zinc-finger double domain

    8. XM_047439379.1 → XP_047295335.1  zinc finger protein 227 isoform X2

    9. XM_017027267.2 → XP_016882756.1  zinc finger protein 227 isoform X3

      Conserved Domains (5) summary
      smart00349
      Location:23 → 65
      KRAB; krueppel associated box
      COG5048
      Location:294 → 678
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:23 → 62
      KRAB; KRAB box
      pfam13465
      Location:507 → 531
      zf-H2C2_2; Zinc-finger double domain

    10. XM_047439378.1 → XP_047295334.1  zinc finger protein 227 isoform X2

    11. XM_047439381.1 → XP_047295337.1  zinc finger protein 227 isoform X3

    12. XM_011527290.1 → XP_011525592.1  zinc finger protein 227 isoform X2

      Conserved Domains (5) summary
      smart00349
      Location:23 → 76
      KRAB; krueppel associated box
      COG5048
      Location:300 → 699
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:515 → 535
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:23 → 62
      KRAB; KRAB box
      pfam13465
      Location:528 → 552
      zf-H2C2_2; Zinc-finger double domain

    13. XM_006723371.1 → XP_006723434.1  zinc finger protein 227 isoform X3

      See identical proteins and their annotated locations for XP_006723434.1

      Conserved Domains (5) summary
      smart00349
      Location:23 → 65
      KRAB; krueppel associated box
      COG5048
      Location:294 → 678
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:494 → 514
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:23 → 62
      KRAB; KRAB box
      pfam13465
      Location:507 → 531
      zf-H2C2_2; Zinc-finger double domain

    14. XM_047439384.1 → XP_047295340.1  zinc finger protein 227 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47030346..47060129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322037.1 → XP_054178012.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6

    2. XM_054322047.1 → XP_054178022.1  zinc finger protein 227 isoform X3

    3. XM_054322048.1 → XP_054178023.1  zinc finger protein 227 isoform X3

    4. XM_054322039.1 → XP_054178014.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6

    5. XM_054322041.1 → XP_054178016.1  zinc finger protein 227 isoform X2

    6. XM_054322045.1 → XP_054178020.1  zinc finger protein 227 isoform X3

    7. XM_054322040.1 → XP_054178015.1  zinc finger protein 227 isoform X2

    8. XM_054322044.1 → XP_054178019.1  zinc finger protein 227 isoform X3

    9. XM_054322042.1 → XP_054178017.1  zinc finger protein 227 isoform X2

    10. XM_054322036.1 → XP_054178011.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6

    11. XM_054322038.1 → XP_054178013.1  zinc finger protein 227 isoform X1

      UniProtKB/Swiss-Prot
      B3KRU7, B7Z5P9, Q86WZ6

    12. XM_054322046.1 → XP_054178021.1  zinc finger protein 227 isoform X3

    13. XM_054322043.1 → XP_054178018.1  zinc finger protein 227 isoform X2

    14. XM_054322049.1 → XP_054178024.1  zinc finger protein 227 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WZ6.1 GenPept UniProtKB/Swiss-Prot:Q86WZ6

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