EXOSC4 - exosome component 4 Gene

Homo sapiens

Also known as SKI6; p12A; RRP41; Ski6p; RRP41A; Rrp41p; hRrp41p

Gene ID: 54512 | Gene type: protein coding

About EXOSC4

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,064,056-144,080,648 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 2 paralogues. Broad expression in testis (RPKM 19.8), kidney (RPKM 7.7) and 25 other tissues.

Summary

Enables mRNA 3'-UTR AU-rich region binding activity. Involved in nucleic acid metabolic process and positive regulation of cell growth. Acts upstream of or within defense response to virus. Located in cytosol; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC4 Products(1)

mRNA	Protein	Name
NM_019037.3	NP_061910.1	exosome complex component RRP41

EXOSC4 Protein Structure

RNase_PH

RNase_PH_C

0
100
200
245 a.a.

Protein Preferred Names

Protein Names

exosome complex component RRP41

exosome complex exonuclease RRP41

Related Diseases

Diseases

Alias

Heel Spur

Calcaneal Spur

Lipodystrophy, Familial Partial, Type 3

FPLD3	Pparg-Related Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Type 3	Familial Partial Lipodystrophy Associated With Pparg Mutations
Pparg-Related Fpld	Lipodystrophy, Familial Partial, Associated With Pparg Mutations
Insulin Resistance, Severe, Digenic	Lipodystrophy, Familial Partial, 3
Familial Partial Lipodystrophy, Type 3

Pontocerebellar Hypoplasia, Type 1b

Pontocerebellar Hypoplasia Type 1b	PCH1B
Pontocerebellar Hypoplasia 1b	Hypoplasia, Pontocerebellar, Type 1b

Pontocerebellar Hypoplasia, Type 1c

PCH1C	Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1c	Pontocerebellar Hypoplasia 1c
Doid:0112334	Hypoplasia, Pontocerebellar, Type 1c

Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome	Syndromic Diarrhea
Tricho-Hepato-Enteric Syndrome	Sd/The
Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome	THES1
Phenotypic Diarrhea	Thes
Phenotypic Diarrhea Of Infancy	Diarrhea, Syndromic
Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa	Intractable Diarrhea With Phenotypic Anomalies
Syndromatic Diarrhea	Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

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-RS04600	EXOSC4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EXOSC4	VGNC	VGNC:81652
Macaca mulatta	EXOSC4	VGNC	VGNC:72294
Bos taurus	EXOSC4	VGNC	VGNC:28659
Mus musculus	EXOSC4	MGD	MGI:1923576
Canis familiaris	EXOSC4	VGNC	VGNC:40525
Rattus norvegicus	EXOSC4	RGD	RGD:1310986

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