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

Gene ID: 57786, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:17680
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
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Genomic context

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Location:
7p22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5045860..5069487)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5163659..5187282)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5085491..5109118)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5013544-5014142 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 ATAC-STARR-seq lymphoblastoid silent region 17907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25569 Neighboring gene RBAK-RBAKDN readthrough Neighboring gene RBAK downstream neighbor Neighboring gene MPRA-validated peak6353 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:5157553-5157711 Neighboring gene olfactory receptor family 10 subfamily AH member 1 pseudogene

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 genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population. Nasu T, et al. Int J Cardiol, 2021 Apr 15. PMID 33321125
  2. [Review for the regulatory functions of KRAB zinc finger proteins in embryonic development and tumorgenesis of higher vertebrates]. Ma ZF, et al. Yi Chuan, 2010 May. PMID 20466629
  3. No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. So A, et al. Clin Endocrinol (Oxf), 2006 Dec. PMID 17121540
  4. The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity. Hofman K, et al. J Mol Endocrinol, 2003 Dec. PMID 14664718
  5. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. Jeske YW, et al. Clin Exp Pharmacol Physiol, 2008 Apr. PMID 18307725

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population.
    Title: A genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population.
  2. Studies indicate that data on the regulatory functions of the KRAB-ZFP in embryonic development and tumorgenesis will benefit the understanding of biological roles of KRAB-ZFP in different physiological and pathological states.
    Title: [Review for the regulatory functions of KRAB zinc finger proteins in embryonic development and tumorgenesis of higher vertebrates].
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
  4. The role of RBaK, PMS2, and GNA12 in the inheritance of familial hyperaldosteronism type II were studied.
    Title: Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.
  5. RBaK interacts with the androgen receptor and increases its transcriptional activity.
    Title: The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity.
  6. study found no evidence of mutations in the coding sequence and splice sites of RBaK in association with familial hyperaldosteronism type II
    Title: No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II.
  7. Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells.
    Title: Novel transcription factors in human CD34 antigen-positive hematopoietic cells.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough RBAK-RBAKDN

Readthrough gene: RBAK-RBAKDN, Included gene: RBAKDN

Homology

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 cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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

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.

Genomic

  1. NG_047174.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001204456.2 → NP_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
    A6NDF2, A8KAK4, B2RN44, B9EGS1, F8W6M7, Q9NYW8
    Related
    ENSP00000275423.4, ENST00000353796.7
    Conserved Domains (3) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:343 → 701
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319 → 339
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_021163.4 → NP_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
    A6NDF2, A8KAK4, B2RN44, B9EGS1, F8W6M7, Q9NYW8
    Related
    ENSP00000380120.1, ENST00000396912.2
    Conserved Domains (3) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:343 → 701
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:319 → 339
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000007.14 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    5163659..5187282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYW8.1 GenPept UniProtKB/Swiss-Prot:Q9NYW8

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