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

Gene ID: 257101, updated on 23-Oct-2022

Summary

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, Apr 2022]
Expression
Biased expression in testis (RPKM 20.6), salivary gland (RPKM 1.7) and 1 other tissue See more
Orthologs
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Genomic context

See ZNF683 in Genome Data Viewer
Location:
1p36.11
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26361634..26374518, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26199081..26210241, complement)
105.20220307 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 crystallin beta-gamma domain containing 2 Neighboring gene ribosomal protein L34 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 4973 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3775 Neighboring gene lin-28 homolog A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
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 adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001114759.3NP_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:317419
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:364389
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001307925.1NP_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
    Q8IZ20, Q8NEN4
    Related
    ENSP00000384782.1, ENST00000403843.5
    Conserved Domains (4) summary
    COG5048
    Location:317439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336361
    zf-H2C2_2; Zinc-finger double domain
  3. NM_173574.3NP_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:317419
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:364389
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005245828.4XP_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:325447
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332352
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330352
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:344369
    zf-H2C2_2; Zinc-finger double domain
  2. XM_047417136.1XP_047273092.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X7

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

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

    Conserved Domains (4) summary
    COG5048
    Location:326448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:333353
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:331353
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:345370
    zf-H2C2_2; Zinc-finger double domain
  5. XM_006710555.4XP_006710618.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X2

    Conserved Domains (4) summary
    COG5048
    Location:326448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:333353
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:331353
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:345370
    zf-H2C2_2; Zinc-finger double domain
  6. XM_005245830.4XP_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
    Q8IZ20, Q8NEN4
    Related
    ENSP00000388792.1, ENST00000436292.5
    Conserved Domains (4) summary
    COG5048
    Location:317439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336361
    zf-H2C2_2; Zinc-finger double domain
  7. XM_017000956.2XP_016856445.1  tissue-resident T-cell transcription regulator protein ZNF683 isoform X4

    Conserved Domains (4) summary
    COG5048
    Location:325447
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:332352
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:330352
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:344369
    zf-H2C2_2; Zinc-finger double domain
  8. XM_011541198.3XP_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
    Q8IZ20, Q8NEN4
    Conserved Domains (4) summary
    COG5048
    Location:317439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336361
    zf-H2C2_2; Zinc-finger double domain
  9. XM_005245832.4XP_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
    Q8IZ20, Q8NEN4
    Conserved Domains (4) summary
    COG5048
    Location:317439
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:324344
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:322344
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:336361
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26199081..26210241 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)