RNF13 - ring finger protein 13 Gene

Homo sapiens

Also known as RZF; DEE73; EIEE73

Gene ID: 11342 | Gene type: protein coding

About RNF13

Cytogenetic location: 3q25.1 Genomic coordinates (GRCh38): 3:149,812,688-149,962,139 (from NCBI)

This gene has 16 transcripts (splice variants), 218 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 22.1), brain (RPKM 22.0) and 25 other tissues.

Summary

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]

RNF13 Products(10)

mRNA	Protein	Name
NM_001378285.1	NP_001365214.1	E3 ubiquitin-protein ligase RNF13 isoform 1 precursor
NM_001378286.1	NP_001365215.1	E3 ubiquitin-protein ligase RNF13 isoform 1 precursor
NM_001378287.1	NP_001365216.1	E3 ubiquitin-protein ligase RNF13 isoform 3
NM_001378288.1	NP_001365217.1	E3 ubiquitin-protein ligase RNF13 isoform 3
NM_001378289.1	NP_001365218.1	E3 ubiquitin-protein ligase RNF13 isoform 3
NM_001378290.1	NP_001365219.1	E3 ubiquitin-protein ligase RNF13 isoform 3
NM_001378291.1	NP_001365220.1	E3 ubiquitin-protein ligase RNF13 isoform 4
NM_007282.4	NP_009213.1	E3 ubiquitin-protein ligase RNF13 isoform 1 precursor
NM_183381.3	NP_899237.1	E3 ubiquitin-protein ligase RNF13 isoform 1 precursor
NM_183383.2	NP_899239.2	E3 ubiquitin-protein ligase RNF13 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables JUN kinase binding	IDA IDA: Inferred from direct assay	23378536	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19690564	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in organelle localization	IMP IMP: Inferred from mutant phenotype	24387786	GOA
involved in positive regulation of JNK cascade	IMP IMP: Inferred from mutant phenotype	23378536	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	23378536	GOA
located in endosome	IDA IDA: Inferred from direct assay	24387786	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

RNF13 Protein Structure

zf-RING_2

0
100
200
300
381 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RNF13

RING zinc finger protein

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 73

DEE73	Epileptic Encephalopathy, Early Infantile, 73
Eiee73	Developmental And Epileptic Encephalopathy, 73
Early Infantile Epileptic Encephalopathy 73	Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Rnf13-Related Severe Eoee

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS12047	RNF13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RNF13	MGD	MGI:1346341
Macaca mulatta	RNF13	VGNC	VGNC:81557
Bos taurus	RNF13	VGNC	VGNC:34020
Rattus norvegicus	RNF13	RGD	RGD:1594062
Felis catus	RNF13	VGNC	VGNC:64669
Canis familiaris	RNF13	VGNC	VGNC:45629
Others	RNF13	NCBI

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