1. Gene
  2. RBBP6 - RB binding protein 6, ubiquitin ligase Gene

RBBP6 - RB binding protein 6, ubiquitin ligase Gene

Homo sapiens

Also known as PACT; MY038; P2P-R; RBQ-1; SNAMA

Gene ID: 5930 | Gene type: protein coding

About RBBP6

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:24,539,566-24,572,863 (from NCBI)

This gene has 14 transcripts (splice variants), 150 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 14.0) and 25 other tissues.

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]

RBBP6 Products(3)

mRNA Protein Name
NM_006910.5 NP_008841.2 E3 ubiquitin-protein ligase RBBP6 isoform 1
NM_018703.4 NP_061173.1 E3 ubiquitin-protein ligase RBBP6 isoform 2
NM_032626.6 NP_116015.2 E3 ubiquitin-protein ligase RBBP6 isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
18624398 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20873783 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
24726359 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
18851979 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
24726359 GOA
involved in regulation of DNA replication IMP
IMP: Inferred from mutant phenotype
24726359 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
18851979 GOA
involved in ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
24726359 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with centrosome IDA
IDA: Inferred from direct assay
20873783 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
20873783 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RBBP6 Protein Structure

DWNN

DWNN: DWNN domain (4 - 76)

zf-CCHC

zf-CCHC: Zinc knuckle (160 - 175)

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (259 - 299)

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  • 1792 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RBBP6

RB-binding Q-protein 1

RBBP6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RBBP6 Q7Z6E9 SRSF7 Homo sapiens Q16629
Confocal
18624398
Intra
RBBP6 Q7Z6E9 SRSF7 Homo sapiens Q16629
Y2H
18624398
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Type 1 Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, 20

IDDM20

T1D20

Insulin-Dependent Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, Type 20

Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus RBBP6 VGNC VGNC:107813
Rattus norvegicus RBBP6 RGD RGD:1311964
Mus musculus RBBP6 MGD MGI:894835
Bos taurus RBBP6 VGNC VGNC:33771
Macaca mulatta RBBP6 VGNC VGNC:76677
Canis familiaris RBBP6 VGNC VGNC:45392