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

    Gene ID: 57786, updated on 9-Dec-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
    mouse all
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    Genomic context

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    See RBAK in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5045860..5069487)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5163659..5187282)
    RS_2024_09 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. 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
    2. 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
    3. [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
    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 (30) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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