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

    Gene ID: 257101, updated on 10-Dec-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, Dec 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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