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ZNF683 zinc finger protein 683 [ Homo sapiens (human) ]

Gene ID: 257101, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF683provided by HGNC
Official Full Name
zinc finger protein 683provided by HGNC
Primary source
HGNC:HGNC:28495
See related
Ensembl:ENSG00000176083 MIM:616775; AllianceGenome:HGNC:28495
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
Also known as
Hobit
Summary
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in T cell receptor signaling pathway; cellular response to ionomycin; and regulation of gene expression. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 20.6), salivary gland (RPKM 1.7) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See ZNF683 in Genome Data Viewer
Location:
1p36.11
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26361634..26374518, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26199081..26211983, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26688125..26699285, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene UBX domain protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26645229-26646214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26648235-26648736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26655253-26655760 Neighboring gene CD52 molecule Neighboring gene crystallin beta-gamma domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 498 Neighboring gene ribosomal protein L34 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26672818-26673571 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26675860-26676706 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26677922-26678120 Neighboring gene Sharpr-MPRA regulatory region 4973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26688162-26688861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26690731-26691232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26691233-26691732 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26735457-26736016 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26736017-26736574 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:26745031-26745602 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26746747-26747317 Neighboring gene lin-28 homolog A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:26756121-26756849 Neighboring gene uncharacterized LOC124903883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26758031-26758567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26758568-26759104

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. Cancer-specific tissue-resident memory T-cells express ZNF683 in colorectal cancer. Kitakaze M, et al. Br J Cancer, 2023 May. PMID 36869093, Free PMC Article
  2. Single-cell transcriptome profiling reveals the key role of ZNF683 in natural killer cell exhaustion in multiple myeloma. Li X, et al. Clin Transl Med, 2022 Oct. PMID 36245253, Free PMC Article
  3. Hobit expression by a subset of human liver-resident CD56(bright) Natural Killer cells. Lunemann S, et al. Sci Rep, 2017 Jul 27. PMID 28751776, Free PMC Article
  4. Hobit and human effector T-cell differentiation: The beginning of a long journey. Braun J, et al. Eur J Immunol, 2015 Oct. PMID 26440905
  5. Blimp-1 homolog Hobit identifies effector-type lymphocytes in humans. Vieira Braga FA, et al. Eur J Immunol, 2015 Oct. PMID 26179882

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cancer-specific tissue-resident memory T-cells express ZNF683 in colorectal cancer.
    Title: Cancer-specific tissue-resident memory T-cells express ZNF683 in colorectal cancer.
  2. Single-cell transcriptome profiling reveals the key role of ZNF683 in natural killer cell exhaustion in multiple myeloma.
    Title: Single-cell transcriptome profiling reveals the key role of ZNF683 in natural killer cell exhaustion in multiple myeloma.
  3. Transcription Factor ZNF683 Inhibits SIV/HIV Replication through Regulating IFNgamma Secretion of CD8+ T Cells.
    Title: Transcription Factor ZNF683 Inhibits SIV/HIV Replication through Regulating IFNγ Secretion of CD8+ T Cells.
  4. Transcription factor Hobit identifies a subset of NK cells in Human livers that express a distinct set of adhesion molecules and chemokine receptors consistent with tissue residency. These data suggest that Hobit is involved in regulating tissue-residency of human intrahepatic CD56bright NK cells in a subset of NK cells in inflamed livers.
    Title: Hobit expression by a subset of human liver-resident CD56(bright) Natural Killer cells.
  5. These findings suggest that Blimp-1 initiates cytotoxic effector function and that Hobit maintains cytotoxicity in a deployment-ready modus in tissue-resident memory CD8 T cells.
    Title: Blimp-1 induces and Hobit maintains the cytotoxic mediator granzyme B in CD8 T cells.
  6. These data implicate Hobit as a novel transcriptional regulator in quiescent human effector-type CD8(+) T cells that regulates their immediate effector functions.
    Title: Blimp-1 homolog Hobit identifies effector-type lymphocytes in humans.
  7. Hobit's function in human T cells is highly adapted to lifelong, periodic challenges with varying, physiological doses of pathogens.
    Title: Hobit and human effector T-cell differentiation: The beginning of a long journey.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC33414

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables promoter-specific chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to ionomycin IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
NOT involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of type II interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of NK T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of extrathymic T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of natural killer cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of natural killer cell differentiation involved in immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in regulation of type II interferon production IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
tissue-resident T-cell transcription regulator protein ZNF683
Names
homolog of Blimp-1 in T cells
homolog of Blimp-1 in T-cell
hypothetical protein MGC33414

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_001114759.3 → NP_001108231.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform 1

    See identical proteins and their annotated locations for NP_001108231.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes shorter isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC028731, BC029505, DB444885
    Consensus CDS
    CCDS279.2
    UniProtKB/Swiss-Prot
    Q8IZ20
    Related
    ENSP00000344095.3, ENST00000349618.8
    Conserved Domains (4) summary
    COG5048
    Location:317 → 419
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:364 → 389
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001307925.1 → NP_001294854.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform 2

    See identical proteins and their annotated locations for NP_001294854.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2 which is longer and has a distinct internal region compared to isoform 1.
    Source sequence(s)
    BC028731, BC029505, DB444885
    Consensus CDS
    CCDS76126.1
    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4
    Related
    ENSP00000384782.1, ENST00000403843.5
    Conserved Domains (4) summary
    COG5048
    Location:317 → 439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336 → 361
    zf-H2C2_2; Zinc-finger double domain

  3. NM_173574.3 → NP_775845.2  tissue-resident T-cell transcription regulator protein ZNF683 isoform 1

    See identical proteins and their annotated locations for NP_775845.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC028731, BC029505, DB444885
    Consensus CDS
    CCDS279.2
    UniProtKB/Swiss-Prot
    Q8IZ20
    Conserved Domains (4) summary
    COG5048
    Location:317 → 419
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:364 → 389
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26361634..26374518 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245828.4 → XP_005245885.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X3

    See identical proteins and their annotated locations for XP_005245885.1

    Conserved Domains (4) summary
    COG5048
    Location:325 → 447
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332 → 352
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330 → 352
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:344 → 369
    zf-H2C2_2; Zinc-finger double domain

  2. XM_047417136.1 → XP_047273092.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X7

  3. XM_017000957.3 → XP_016856446.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X6

  4. XM_017000954.3 → XP_016856443.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X1

    Conserved Domains (4) summary
    COG5048
    Location:326 → 448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:333 → 353
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:331 → 353
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:345 → 370
    zf-H2C2_2; Zinc-finger double domain

  5. XM_006710555.4 → XP_006710618.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X2

    Conserved Domains (4) summary
    COG5048
    Location:326 → 448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:333 → 353
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:331 → 353
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:345 → 370
    zf-H2C2_2; Zinc-finger double domain

  6. XM_005245830.4 → XP_005245887.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    See identical proteins and their annotated locations for XP_005245887.1

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4
    Related
    ENSP00000388792.1, ENST00000436292.5
    Conserved Domains (4) summary
    COG5048
    Location:317 → 439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336 → 361
    zf-H2C2_2; Zinc-finger double domain

  7. XM_017000956.2 → XP_016856445.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X4

    Conserved Domains (4) summary
    COG5048
    Location:325 → 447
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332 → 352
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330 → 352
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:344 → 369
    zf-H2C2_2; Zinc-finger double domain

  8. XM_011541198.3 → XP_011539500.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    See identical proteins and their annotated locations for XP_011539500.1

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4
    Conserved Domains (4) summary
    COG5048
    Location:317 → 439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336 → 361
    zf-H2C2_2; Zinc-finger double domain

  9. XM_005245832.4 → XP_005245889.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    See identical proteins and their annotated locations for XP_005245889.1

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4
    Conserved Domains (4) summary
    COG5048
    Location:317 → 439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324 → 344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322 → 344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336 → 361
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26199081..26211983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335834.1 → XP_054191809.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X1

  2. XM_054335836.1 → XP_054191811.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X3

  3. XM_054335842.1 → XP_054191817.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X7

  4. XM_054335841.1 → XP_054191816.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X6

  5. XM_054335835.1 → XP_054191810.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X2

  6. XM_054335838.1 → XP_054191813.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4

  7. XM_054335837.1 → XP_054191812.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X4

  8. XM_054335833.1 → XP_054191808.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X2

  9. XM_054335840.1 → XP_054191815.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4

  10. XM_054335839.1 → XP_054191814.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X5

    UniProtKB/Swiss-Prot
    Q5T141, Q5T146, Q5T147, Q5T149, Q8IZ20, Q8NEN4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZ20.3 GenPept UniProtKB/Swiss-Prot:Q8IZ20

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