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    ZNF619 zinc finger protein 619 [ Homo sapiens (human) ]

    Gene ID: 285267, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF619provided by HGNC
    Official Full Name
    zinc finger protein 619provided by HGNC
    Primary source
    HGNC:HGNC:26910
    See related
    Ensembl:ENSG00000177873 AllianceGenome:HGNC:26910
    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 factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.6), spleen (RPKM 1.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF619 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40477122..40491053)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40492190..40506125)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (40518613..40532544)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ENTPD3, EIF1B and MYRIP antisense RNA 1 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:40459610-40459810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19717 Neighboring gene Sharpr-MPRA regulatory region 7904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14232 Neighboring gene Sharpr-MPRA regulatory region 106 Neighboring gene ribosomal protein L14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:40534545-40535044 Neighboring gene RNA, U5B small nuclear 2, pseudogene Neighboring gene zinc finger protein 620

    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. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. Xie L, et al. PLoS Genet, 2012. PMID 23284306, Free PMC Article
    2. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article
    3. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. Viard J, et al. Life Sci Alliance, 2022 Aug 1. PMID 35914814, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (7) 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

    Clone Names

    • FLJ90764

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription 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
    		  
    Process Evidence Code Pubs
    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 619

    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_001145082.4 → NP_001138554.1  zinc finger protein 619 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46802.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000411132.2, ENST00000447116.6
      Conserved Domains (6) summary
      smart00349
      Location:20 → 120
      KRAB; krueppel associated box
      COG5048
      Location:256 → 414
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:328 → 350
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:20 → 59
      KRAB; KRAB box
      pfam13465
      Location:343 → 367
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001145083.3 → NP_001138555.1  zinc finger protein 619 isoform 5

      See identical proteins and their annotated locations for NP_001138555.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two internal coding exons, resulting in an upstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter and different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46801.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000397232.1, ENST00000456778.5
      Conserved Domains (4) summary
      COG5048
      Location:172 → 330
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:246 → 266
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:244 → 266
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:259 → 283
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001145093.4 → NP_001138565.1  zinc finger protein 619 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC121754
      Consensus CDS
      CCDS46803.1
      UniProtKB/Swiss-Prot
      Q8N2I2
      Related
      ENSP00000388710.2, ENST00000432264.4
      Conserved Domains (6) summary
      smart00349
      Location:20 → 80
      KRAB; krueppel associated box
      COG5048
      Location:216 → 374
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:290 → 310
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:288 → 310
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:20 → 59
      KRAB; KRAB box
      pfam13465
      Location:303 → 327
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001145094.3 → NP_001138566.1  zinc finger protein 619 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC121754
      UniProtKB/TrEMBL
      Q17RW3
      Related
      ENSP00000398024.3, ENST00000429348.6
      Conserved Domains (3) summary
      COG5048
      Location:207 → 365
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:434 → 457
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001363277.2 → NP_001350206.1  zinc finger protein 619 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC121754
      UniProtKB/TrEMBL
      B7Z9B3
      Conserved Domains (4) summary
      COG5048
      Location:158 → 316
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:385 → 408
      zf-H2C2_2; Zinc-finger double domain
      cl02581
      Location:4 → 22
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

    6. NM_173656.5 → NP_775927.1  zinc finger protein 619 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC121754, DC351282
      UniProtKB/Swiss-Prot
      B4E271, C9JRN5, D4PHA2, E9PCD9, Q8N2I2
      Related
      ENSP00000322529.5, ENST00000314686.9

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      40477122..40491053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533607.2 → XP_011531909.1  zinc finger protein 619 isoform X1

      Conserved Domains (6) summary
      smart00349
      Location:20 → 119
      KRAB; krueppel associated box
      COG5048
      Location:255 → 413
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:329 → 349
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:327 → 349
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:20 → 59
      KRAB; KRAB box
      pfam13465
      Location:342 → 366
      zf-H2C2_2; Zinc-finger double domain

    2. XM_006713112.3 → XP_006713175.1  zinc finger protein 619 isoform X2

      Conserved Domains (6) summary
      smart00349
      Location:20 → 79
      KRAB; krueppel associated box
      COG5048
      Location:215 → 373
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:289 → 309
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:287 → 309
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:20 → 59
      KRAB; KRAB box
      pfam13465
      Location:302 → 326
      zf-H2C2_2; Zinc-finger double domain

    3. XM_006713113.4 → XP_006713176.1  zinc finger protein 619 isoform X5

      Conserved Domains (4) summary
      COG5048
      Location:171 → 329
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:245 → 265
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:243 → 265
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:258 → 282
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047448010.1 → XP_047303966.1  zinc finger protein 619 isoform X3

    5. XM_017006225.2 → XP_016861714.1  zinc finger protein 619 isoform X4

      UniProtKB/TrEMBL
      Q17RW3
      Conserved Domains (3) summary
      COG5048
      Location:207 → 365
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:434 → 457
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      40492190..40506125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346287.1 → XP_054202262.1  zinc finger protein 619 isoform X1

    2. XM_054346288.1 → XP_054202263.1  zinc finger protein 619 isoform X2

    3. XM_054346291.1 → XP_054202266.1  zinc finger protein 619 isoform X5

    4. XM_054346289.1 → XP_054202264.1  zinc finger protein 619 isoform X3

    5. XM_054346290.1 → XP_054202265.1  zinc finger protein 619 isoform X4

      UniProtKB/TrEMBL
      Q17RW3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001363278.1: Suppressed sequence

      Description
      NM_001363278.1: This RefSeq was removed because it was the same as NM_173656.3.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2I2.1 GenPept UniProtKB/Swiss-Prot:Q8N2I2

    Gene LinkOut

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

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