RBBP9 RB binding protein 9, serine hydrolase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBBP9provided by HGNC
Official Full Name: RB binding protein 9, serine hydrolaseprovided by HGNC
Primary source: HGNC:HGNC:9892
See related: Ensembl:ENSG00000089050 MIM:602908; AllianceGenome:HGNC:9892
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: BOG; RBBP10
Summary: The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 16.2), kidney (RPKM 8.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (18486540..18497225, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (18537660..18548351, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (18467184..18477869, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma.
Title: Genome-wide siRNA screens identify RBBP9 function as a potential target in Fanconi anaemia-deficient head-and-neck squamous cell carcinoma.
blood samples of lateral sclerosis patients were found to have significantly different levels of expression of CyFIP2 and RbBP9 compared to the levels of expression in control subjects.
Title: Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis.
Structure- function studies of RBBP9 suggest possible routes for novel cancer drug discovery programs.
Title: Human retinoblastoma binding protein 9, a serine hydrolase implicated in pancreatic cancers.
Data identified RBBP4 and RBBP9 as required for maintenance of multiple PS cell types, and both RBBPs were bound to RB in PS cells.
Title: Retinoblastoma-binding proteins 4 and 9 are important for human pluripotent stem cell maintenance.
identify RBBP9 as a tumor-associated serine hydrolase that displays elevated activity in pancreatic carcinomas. RBBP9 promotes pancreatic carcinogenesis.
Title: RBBP9: a tumor-associated serine hydrolase activity required for pancreatic neoplasia.
The crystal structure of human RBBP9 has been determined at 1.72 A resolution by the seleno-methionyl single-wavelength anomalous diffraction method.
Title: Crystal structure of human retinoblastoma binding protein 9.
RBBP10 was expressed widely in various human tissues, and the expression level is somewhat higher in tumor tissues than in normal tissues.
Title: Cloning and expression of a novel retinoblastoma binding protein cDNA, RBBP10.

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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

RH47075 (e-PCR)
- UniSTS:46617

RH48739 (e-PCR)
- UniSTS:46399

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in response to nematode	IEA Inferred from Electronic Annotation more info
involved_in type II pneumocyte differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: serine hydrolase RBBP9

Names: B5T overexpressed gene protein; RBBP-10; RBBP-9; putative hydrolase RBBP9; retinoblastoma-binding protein 10; retinoblastoma-binding protein 9; retinoma-binding protein 9

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_006606.3 → NP_006597.2 serine hydrolase RBBP9

See identical proteins and their annotated locations for NP_006597.2

Status: REVIEWED

Source sequence(s)

AL121893

Consensus CDS

CCDS13136.1

UniProtKB/Swiss-Prot

D3DW31, O75884, Q5JPH9, Q9H1D8

Related

ENSP00000336866.4, ENST00000337227.9

Conserved Domains (1) summary

cl21494
Location:8 → 173

Abhydrolase; alpha/beta hydrolases

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

18486540..18497225 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

18537660..18548351 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153328.1: Suppressed sequence

Description

NM_153328.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.