RNF13 - ring finger protein 13 Gene

Also Known as RZF; DEE73; EIEE73

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11342

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 Références 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 Références 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 Références 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

PA

PA: PA domain (65 - 160)

zf-RING_2

zf-RING_2: Ring finger domain (238 - 282)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS12047 RNF13 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22778 Rnf13 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29292 Rnf13 Rat Pre-designed siRNA Set A Pre-designed Set / 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