EXOSC1 - exosome component 1 Gene

Homo sapiens

Also known as p13; CSL4; SKI4; Csl4p; PCH1F; Ski4p; CGI-108

Gene ID: 51013 | Gene type: protein coding

About EXOSC1

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:97,435,909-97,446,006 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 9.3), urinary bladder (RPKM 7.6) and 25 other tissues.

Summary

This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]

EXOSC1 Products(6)

mRNA	Protein	Name
NM_001318362.2	NP_001305291.1	exosome complex component CSL4 isoform b
NM_001318363.2	NP_001305292.1	exosome complex component CSL4 isoform c
NM_001318364.2	NP_001305293.1	exosome complex component CSL4 isoform d
NM_001318365.2	NP_001305294.1	exosome complex component CSL4 isoform e
NM_001318366.2	NP_001305295.1	exosome complex component CSL4 isoform e
NM_016046.5	NP_057130.1	exosome complex component CSL4 isoform a

EXOSC1 Protein Structure

ECR1_N

EXOSC1

0
100
195 a.a.

Protein Preferred Names

Protein Names

exosome complex component CSL4

3'-5' exoribonuclease CSL4 homolog

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 1f

PCH1F	Pontocerebellar Hypoplasia Type 1f
Pontocerebellar Hypoplasia 1f

Pontocerebellar Hypoplasia

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

Diamond-Blackfan Anemia 7

DBA7	Rpl11-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 7

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

Pontocerebellar Hypoplasia, Type 1b

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

Pontocerebellar Hypoplasia, Type 1d

PCH1D	Pontocerebellar Hypoplasia Type 1d
Pontocerebellar Hypoplasia 1d	Doid:0112323
Hypoplasia, Pontocerebellar, Type 1d

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

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

Congenital Aphakia

Congenital Absence Of Lens	Aphakia, Congenital Primary
Agenesis Of Lens

Histrionic Personality Disorder

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-RS04596	EXOSC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EXOSC1	VGNC	VGNC:72289
Mus musculus	EXOSC1	MGD	MGI:1913833
Bos taurus	EXOSC1	VGNC	VGNC:28655
Canis familiaris	EXOSC1	VGNC	VGNC:40521
Rattus norvegicus	EXOSC1	RGD	RGD:1591855

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