RNF113A - ring finger protein 113A Gene

Homo sapiens

Also known as TTD5; Cwc24; RNF113; ZNF183

Gene ID: 7737 | Gene type: protein coding

About RNF113A

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,870,475-119,871,733 (from NCBI)

This gene has 1 transcript (splice variant), 210 orthologues, 1 paralogue and is associated with 3 phenotypes.

Summary

This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

RNF113A Products(1)

mRNA	Protein	Name
NM_006978.3	NP_008909.1	E3 ubiquitin-protein ligase RNF113A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA
enables ubiquitin protein ligase activity	IMP IMP: Inferred from mutant phenotype	28978524	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	29360106	GOA
involved in negative regulation of chemokine-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	28978524	GOA
involved in protein ubiquitination	IMP IMP: Inferred from mutant phenotype	28978524	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29360106	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29360106	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

RNF113A Protein Structure

zf-CCCH

zf-C3HC4_2

0
100
200
300
343 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RNF113A

cwc24 homolog

Related Diseases

Diseases

Alias

Trichothiodystrophy 5, Nonphotosensitive

TTD5	Nonphotosensitive Trichothiodystrophy 5
Trichothiodystrophy 5, Non-Photosensitive

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain Syndrome

Cataract 40

CTRCT40	Cataract 40 With Or Without Microcornea
Cct	Cataract, Congenital, X-Linked
Cataract 40, X-Linked	Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Cxn	Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
Cataract 40 X-Linked	Cataract Congenital X-Linked
Cataract, Total Congenital	Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes	X-Linked Congenital Cataract
Cataract, Type 40

Cerebellar Hypoplasia

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12	SCAR12
Spinocerebellar Ataxia With Mental Retardation And Epilepsy	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 12	Spinocerebellar Ataxia, Autosomal Recessive, 12
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

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-RS12038	RNF113A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RNF113A	VGNC	VGNC:103854
Mus musculus	RNF113A	MGD	MGI:1917192
Rattus norvegicus	RNF113A	RGD	RGD:1359693
Others	RNF113A	NCBI

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