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RBAK RB associated KRAB zinc finger [ Homo sapiens (human) ]

Gene ID: 57786, updated on 1-Jun-2020

Summary

Official Symbol
RBAKprovided by HGNC
Official Full Name
RB associated KRAB zinc fingerprovided by HGNC
Primary source
HGNC:HGNC:17680
See related
Ensembl:ENSG00000146587 MIM:608191
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZNF769
Summary
This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in thyroid (RPKM 4.0), lymph node (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See RBAK in Genome Data Viewer
Location:
7p22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (5045860..5069487)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5085452..5109119)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ring finger protein 216 pseudogene 1 Neighboring gene uncharacterized LOC105375134 Neighboring gene speedy/RINGO cell cycle regulator family member E19, pseudogene Neighboring gene RBAK-RBAKDN readthrough Neighboring gene RBAK downstream neighbor Neighboring gene olfactory receptor family 10 subfamily AH member 1 pseudogene

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

Markers

Readthrough RBAK-RBAKDN

Readthrough gene: RBAK-RBAKDN, Included gene: RBAKDN

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
RB-associated KRAB zinc finger protein
Names
RB-associated KRAB repressor
zinc finger protein 769

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_047174.1 RefSeqGene

    Range
    5040..28667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204456.2NP_001191385.1  RB-associated KRAB zinc finger protein

    See identical proteins and their annotated locations for NP_001191385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC092032, AK293069
    Consensus CDS
    CCDS5337.1
    UniProtKB/Swiss-Prot
    Q9NYW8
    Related
    ENSP00000275423.4, ENST00000353796.7
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:343701
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319339
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_021163.4NP_066986.1  RB-associated KRAB zinc finger protein

    See identical proteins and their annotated locations for NP_066986.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC092032, AF226869, AK093275, AL711327, CD238907, DB363461
    Consensus CDS
    CCDS5337.1
    UniProtKB/Swiss-Prot
    Q9NYW8
    Related
    ENSP00000380120.1, ENST00000396912.2
    Conserved Domains (3) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:343701
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319339
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    5045860..5069487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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