RBBP7 RB binding protein 7, chromatin remodeling factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBBP7provided by HGNC
Official Full Name: RB binding protein 7, chromatin remodeling factorprovided by HGNC
Primary source: HGNC:HGNC:9890
See related: Ensembl:ENSG00000102054 MIM:300825; AllianceGenome:HGNC:9890
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: RbAp46
Summary: This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Expression: Ubiquitous expression in adrenal (RPKM 151.2), testis (RPKM 63.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (16844341..16870362, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (16426872..16452877, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (16862464..16888485, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interpreting the molecular mechanisms of RBBP4/7 and their roles in human diseases (Review).
Title: Interpreting the molecular mechanisms of RBBP4/7 and their roles in human diseases (Review).
RBBP7, regulated by SP1, enhances the Warburg effect to facilitate the proliferation of hepatocellular carcinoma cells via PI3K/AKT signaling.
Title: RBBP7, regulated by SP1, enhances the Warburg effect to facilitate the proliferation of hepatocellular carcinoma cells via PI3K/AKT signaling.
X-linked RBBP7 mutation causes maturation arrest and testicular tumors.
Title: X-linked RBBP7 mutation causes maturation arrest and testicular tumors.
FIT links c-Myc and P53 acetylation by recruiting RBBP7 during colorectal carcinogenesis.
Title: FIT links c-Myc and P53 acetylation by recruiting RBBP7 during colorectal carcinogenesis.
Overlapping functions of RBBP4 and RBBP7 in regulating cell proliferation and histone H3.3 deposition during mouse preimplantation development.
Title: Overlapping functions of RBBP4 and RBBP7 in regulating cell proliferation and histone H3.3 deposition during mouse preimplantation development.
Hypoxia-induced RBBP7 promotes esophagus cancer progression by inducing CDK4 expression.
Title: Hypoxia-induced RBBP7 promotes esophagus cancer progression by inducing CDK4 expression.
Circular RNA hsa_circ_0006168 contributes to cell proliferation, migration and invasion in esophageal cancer by regulating miR-384/RBBP7 axis via activation of S6K/S6 pathway.
Title: Circular RNA hsa_circ_0006168 contributes to cell proliferation, migration and invasion in esophageal cancer by regulating miR-384/RBBP7 axis via activation of S6K/S6 pathway.
results support a model in which the activation of the TNF-alpha/NF-kappaB axis contributes to an increase in CRL4B(DCAF)(11) activity and a decrease in p21(Cip1) protein levels, thereby controlling cell cycle progression in human osteosarcoma cells.
Title: Activation of TNF-α/NF-κB axis enhances CRL4B(DCAF)(11) E3 ligase activity and regulates cell cycle progression in human osteosarcoma cells.
show that BCL11A(2-16) pulls down RBBP4, RBBP7, and other components of PRC2, NuRD, and SIN3A from the cell lysate of the TNBC cell line SUM149
Title: Probing the interaction between the histone methyltransferase/deacetylase subunit RBBP4/7 and the transcription factor BCL11A in epigenetic complexes.
RBBP7 controls the stability of HUWE1.RBBP7 is the E3 ligase responsible for the proteasomal degradation of HUWE1.
Title: CRL4B(RBBP7) targets HUWE1 for ubiquitination and proteasomal degradation.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The SIN3/HDAC complex, composed of SIN3A, SAP30, SAP18, HDAC-1 AND -2 and RbAp46/48 except SAP30, is identified to interact with HIV-1 Tat in Jurkat cell	PubMed
Vpr	vpr	HIV-1 Vpr forms a complex by recruiting RbAp46, HAT1, ZIP/sZIP, and Cul4A	PubMed
	vpr	HIV-1 Vpr is identified to have a physical interaction with retinoblastoma binding protein 7 (RBBP7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH68864 (e-PCR)
- UniSTS:66845

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

NoName (e-PCR)
- UniSTS:486801

DXS8320 (e-PCR)
- UniSTS:59292

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in brain development	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular heat acclimation	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell fate specification	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of stem cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of ESC/E(Z) complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESC/E(Z) complex	IDA Inferred from Direct Assay more info	PubMed
part_of NURF complex	IPI Inferred from Physical Interaction more info	PubMed
part_of NuRD complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NuRD complex	IDA Inferred from Direct Assay more info	PubMed
part_of NuRD complex	NAS Non-traceable Author Statement more info	PubMed
part_of Sin3-type complex	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
part_of histone deacetylase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: histone-binding protein RBBP7

Names: G1/S transition control protein-binding protein RbAp46; RBBP-7; histone acetyltransferase type B subunit 2; nucleosome-remodeling factor subunit RBAP46; retinoblastoma-binding protein 7; retinoblastoma-binding protein RbAp46; retinoblastoma-binding protein p46

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)

NM_001198719.2 → NP_001185648.1 histone-binding protein RBBP7 isoform 1

See identical proteins and their annotated locations for NP_001185648.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK091911, AL929302, BQ775345, DA924163

Consensus CDS

CCDS56598.1

UniProtKB/TrEMBL

A8K6A2

Related

ENSP00000369424.4, ENST00000380084.8

Conserved Domains (3) summary

sd00039
Location:171 → 218

7WD40; WD40 repeat [structural motif]

pfam12265
Location:62 → 131

CAF1C_H4-bd; Histone-binding protein RBBP4 or subunit C of CAF1 complex

cl29593
Location:166 → 446

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_002893.4 → NP_002884.1 histone-binding protein RBBP7 isoform 2

See identical proteins and their annotated locations for NP_002884.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AL929302, BC114501, CN414343, DB460068

Consensus CDS

CCDS14179.1

UniProtKB/Swiss-Prot

Q16576, Q5JP00

UniProtKB/TrEMBL

A8K6A2, Q6FHQ0

Related

ENSP00000369427.3, ENST00000380087.7

Conserved Domains (3) summary

sd00039
Location:127 → 174

7WD40; WD40 repeat [structural motif]

pfam12265
Location:18 → 87

CAF1C_H4-bd; Histone-binding protein RBBP4 or subunit C of CAF1 complex

cl29593
Location:122 → 402

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

16844341..16870362 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442292.1 → XP_047298248.1 histone-binding protein RBBP7 isoform X2

UniProtKB/TrEMBL

A8K6A2
XM_047442291.1 → XP_047298247.1 histone-binding protein RBBP7 isoform X1

UniProtKB/TrEMBL

A8K6A2

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

16426872..16452877 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327470.1 → XP_054183445.1 histone-binding protein RBBP7 isoform X2

UniProtKB/TrEMBL

A8K6A2
XM_054327469.1 → XP_054183444.1 histone-binding protein RBBP7 isoform X1

UniProtKB/TrEMBL

A8K6A2