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

Gene ID: 285267, updated on 11-Apr-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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
3p22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40477122..40491053)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40492190..40506125)
105.20220307 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 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) 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)

Genotypes

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_2023_10

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

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