EXOSC5 - exosome component 5 Gene

Homo sapiens

Also known as p12B; CABAC; RRP46; RRP41B; Rrp46p; hRrp46p

Gene ID: 56915 | Gene type: protein coding

About EXOSC5

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,386,374-41,397,359 (from NCBI)

This gene has 6 transcripts (splice variants), 187 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 8.8), ovary (RPKM 8.2) and 25 other tissues.

Summary

Predicted to enable RNA binding activity. Involved in DNA deamination and exonucleolytic catabolism of deadenylated mRNA. Acts upstream of or within defense response to virus. Located in nucleolus; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

EXOSC5 Products(1)

mRNA	Protein	Name
NM_020158.4	NP_064543.3	exosome complex component RRP46

EXOSC5 Protein Structure

RNase_PH

RNase_PH_C

0
100
200
235 a.a.

Protein Preferred Names

Protein Names

exosome complex component RRP46

chronic myelogenous leukemia tumor antigen 28

Related Diseases

Diseases

Alias

Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects

CABAC

Cerebellar Hypoplasia

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

Cat-Scratch Disease

Cat Scratch Disease	Benign Lymphoreticulosis
Cat Scratch Fever	Debre'S Syndrome
Bartonellosis Due To Bartonella Henselae Infection	Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever	Oroya Fever
Cat-Scratch Fever	Benign Inoculation Lymphoreticulosis
Catscratch Disease Or Fever	Csd - [Cat Scratch Disease]
Nonbacterial Regional Lymphadenitis	Rochalimaea Henselae Infection

Pontocerebellar Hypoplasia, Type 1b

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

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

Bartonellosis

Bartonella Infections	Bartonella Infectious Disease
Bartonelliasis	Rochalimaea Infection
Bartonellosis, Unspecified

Pontocerebellar Hypoplasia

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

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-RS04601	EXOSC5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EXOSC5	VGNC	VGNC:28660
Rattus norvegicus	EXOSC5	RGD	RGD:1307861
Canis familiaris	EXOSC5	VGNC	VGNC:40526
Macaca mulatta	EXOSC5	VGNC	VGNC:72331
Mus musculus	EXOSC5	MGD	MGI:107889
Others	EXOSC5	NCBI

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