RNF40 - ring finger protein 40 Gene

Homo sapiens

Also known as BRE1B; RBP95; STARING

Gene ID: 9810 | Gene type: protein coding

About RNF40

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,761,612-30,776,307 (from NCBI)

This gene has 12 transcripts (splice variants), 200 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 21.6), bone marrow (RPKM 14.4) and 25 other tissues.

Summary

The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein Ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

RNF40 Products(4)

mRNA	Protein	Name
NM_001207033.1	NP_001193962.1	E3 ubiquitin-protein ligase BRE1B isoform 2
NM_001207034.1	NP_001193963.1	E3 ubiquitin-protein ligase BRE1B isoform 3
NM_001286572.3	NP_001273501.1	E3 ubiquitin-protein ligase BRE1B isoform 1
NM_014771.4	NP_055586.1	E3 ubiquitin-protein ligase BRE1B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	19575011	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10944455	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	10944455	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	16307923	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	16307923	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16307923	GOA
NOT involved in regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	19575011	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of HULC complex	IDA IDA: Inferred from direct assay	19410543	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10944455	GOA
part of ubiquitin ligase complex	IDA IDA: Inferred from direct assay	16307923	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

RNF40 Protein Structure

zf-C3HC4

0
200
400
600
800
1001 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase BRE1B

95 kDa retinoblastoma protein binding protein

Related Diseases

Diseases

Alias

Testicular Germ Cell Cancer

Germ Cell Tumor Of Testis	Testicular Germ Cell Tumor
Testicular Germ Cell Neoplasm	Testicular Malignant Germ Cell Tumor

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12091	RNF40 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RNF40	VGNC	VGNC:64703
Bos taurus	RNF40	VGNC	VGNC:34066
Macaca mulatta	RNF40	VGNC	VGNC:76745
Canis familiaris	RNF40	VGNC	VGNC:45669
Mus musculus	RNF40	MGD	MGI:2142048
Rattus norvegicus	RNF40	RGD	RGD:628638

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