RBBP6 RB binding protein 6, ubiquitin ligase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBBP6provided by HGNC
Official Full Name: RB binding protein 6, ubiquitin ligaseprovided by HGNC
Primary source: HGNC:HGNC:9889
See related: Ensembl:ENSG00000122257 MIM:600938; AllianceGenome:HGNC:9889
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: PACT; MY038; P2P-R; RBQ-1; SNAMA
Summary: The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 14.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (24539566..24572863)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (24816493..24849790)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (24550887..24584184)

Chromosome 16 - NC_000016.10 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 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?

Abnormal expression of long non-coding RNA FGD5-AS1 affects the development of ovarian cancer through regulating miR-107/RBBP6 axis.
Title: Abnormal expression of long non-coding RNA FGD5-AS1 affects the development of ovarian cancer through regulating miR-107/RBBP6 axis.
RBBP6 activates the pre-mRNA 3' end processing machinery in humans.
Title: RBBP6 activates the pre-mRNA 3' end processing machinery in humans.
The lncRNA SLCO4A1-AS1/miR-876-3p/RBBP6 axis regulates cell proliferation and apoptosis in acute lymphocytic leukemia via the JNK signaling pathway.
Title: The lncRNA SLCO4A1-AS1/miR-876-3p/RBBP6 axis regulates cell proliferation and apoptosis in acute lymphocytic leukemia via the JNK signaling pathway.
Analysis of the expression and association of retinoblastoma binding protein 6 with the JNK signaling pathway in prostate cancers.
Title: Analysis of the expression and association of retinoblastoma binding protein 6 with the JNK signaling pathway in prostate cancers.
RBBP6 aggravates the progression of ovarian cancer by targeting PIK3R6.
Title: RBBP6 aggravates the progression of ovarian cancer by targeting PIK3R6.
RBBP6, a RING finger-domain E3 ubiquitin ligase, induces epithelial-mesenchymal transition and promotes metastasis of colorectal cancer.
Title: RBBP6, a RING finger-domain E3 ubiquitin ligase, induces epithelial-mesenchymal transition and promotes metastasis of colorectal cancer.
In the present study, elevated expression of PACT was detected in cisplatin-resistant A2780/CP cells relative to cisplatin-sensitive A2780cells.
Title: PACT cessation overcomes ovarian cancer cell chemoresistance to cisplatin by enhancing p53-mediated apoptotic pathway.
A crystal structure of the VP30-RBBP6 peptide complex revealed that RBBP6 mimics the viral nucleoprotein (NP) binding to the same interface of VP30.
Title: Protein Interaction Mapping Identifies RBBP6 as a Negative Regulator of Ebola Virus Replication.
RBBP6 might potentiate cervical carcinoma cell viability.
Title: RBBP6 promotes human cervical carcinoma malignancy via JNK signaling pathway.
Results from a study on gene expression variability markers in early-stage human embryos shows that RBBP6 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

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
capsid	gag	The interaction of HIV-1 CA with human cellular retinoblastoma binding protein 6 (RBBP6) is identified by yeast two-hybrid screen	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

SHGC-82501 (e-PCR)
- UniSTS:104452

SHGC-61177 (e-PCR)
- UniSTS:67347

RH69978 (e-PCR)
- UniSTS:9506

RH48310 (e-PCR)
- UniSTS:68143

SHGC-61139 (e-PCR)
- UniSTS:1332

RH71297 (e-PCR)
- UniSTS:66

NoName (e-PCR)
- UniSTS:484071

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somite development	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RBBP6

Names: RB-binding Q-protein 1; RING-type E3 ubiquitin transferase RBBP6; p53-associated cellular protein of testis; proliferation potential-related protein; protein P2P-R; retinoblastoma binding protein 6; retinoblastoma-binding Q protein 1

NP_008841.2

EC 2.3.2.27

NP_061173.1

EC 2.3.2.27

NP_116015.2

EC 2.3.2.27

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_006910.5 → NP_008841.2 E3 ubiquitin-protein ligase RBBP6 isoform 1

See identical proteins and their annotated locations for NP_008841.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longest transcript and it encodes the longest isoform (1).

Source sequence(s)

AB112074, AC010321, AK026954, AL359564, BF727303, BI489954, BM314442

Consensus CDS

CCDS10621.1

UniProtKB/Swiss-Prot

Q147T5, Q15290, Q6DKH4, Q6P4C2, Q6YNC9, Q7Z6E8, Q7Z6E9, Q8N0V2, Q96PH3, Q9H3I8, Q9H5M5, Q9NPX4

UniProtKB/TrEMBL

A0A2R8Y880

Related

ENSP00000317872.4, ENST00000319715.10

Conserved Domains (4) summary

smart00184
Location:259 → 299

RING; Ring finger

COG5222
Location:2 → 322

COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

pfam08783
Location:4 → 75

DWNN; DWNN domain

pfam13696
Location:156 → 176

zf-CCHC_2; Zinc knuckle
NM_018703.4 → NP_061173.1 E3 ubiquitin-protein ligase RBBP6 isoform 2

See identical proteins and their annotated locations for NP_061173.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AB112075, AC010321, AK026954, AL359564, BF727303, BI489954, BM314442

Consensus CDS

CCDS10622.1

UniProtKB/TrEMBL

A0A2R8Y880

Related

ENSP00000316291.4, ENST00000348022.6

Conserved Domains (4) summary

smart00184
Location:259 → 299

RING; Ring finger

COG5222
Location:2 → 322

COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]

pfam08783
Location:4 → 75

DWNN; DWNN domain

pfam13696
Location:156 → 176

zf-CCHC_2; Zinc knuckle
NM_032626.6 → NP_116015.2 E3 ubiquitin-protein ligase RBBP6 isoform 3

See identical proteins and their annotated locations for NP_116015.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC010321, BF727303, BI489954, BM314442, CB529116

Consensus CDS

CCDS45444.1

UniProtKB/Swiss-Prot

Q7Z6E9

Related

ENSP00000390537.2, ENST00000452655.6

Conserved Domains (1) summary

pfam08783
Location:4 → 75

DWNN; DWNN domain