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

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; 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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].
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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.
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.
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.
Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells.
Title: Novel transcription factors in human CD34 antigen-positive hematopoietic cells.

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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

RBAK_3666 (e-PCR)
- UniSTS:462487

RH12523 (e-PCR)
- UniSTS:69610

Readthrough RBAK-RBAKDN

Readthrough gene: RBAK-RBAKDN, Included gene: RBAKDN

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

NG_047174.1 RefSeqGene

Range

5040..28667

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]