CHMP1A - charged multivesicular body protein 1A Gene

Homo sapiens

Also known as PCH8; CHMP1; PRSM1; PCOLN3; VPS46A; VPS46-1

Gene ID: 5119 | Gene type: protein coding

About CHMP1A

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,644,435-89,657,708 (from NCBI)

This gene has 26 transcripts (splice variants), 185 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in small intestine (RPKM 17.5), colon (RPKM 16.9) and 25 other tissues.

Summary

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CHMP1A Products(2)

mRNA	Protein	Name
NM_001083314.4	NP_001076783.1	charged multivesicular body protein 1a isoform 1
NM_002768.5	NP_002759.2	charged multivesicular body protein 1a isoform 2

CHMP1A Protein Structure

Snf7

0
100
196 a.a.

Protein Preferred Names

Protein Names

charged multivesicular body protein 1a

charged multivesicular body protein 1/chromatin modifying protein 1

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8	PCH8
Pontocerebellar Hypoplasia Due To Chmp1a Mutation	Pontocerebellar Hypoplasia 8
Hypoplasia, Pontocerebellar, Type 8

Pontocerebellar Hypoplasia, Type 1a

Pontocerebellar Hypoplasia Type 1a	PCH1A
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy	Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
Pch1	Pontocerebellar Hypoplasia 1a
Hypoplasia, Pontocerebellar, Type 1a	Pontocerebellar Hypoplasia Type 1

Pontocerebellar Hypoplasia

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

Pontocerebellar Hypoplasia, Type 2f

PCH2F	Pontocerebellar Hypoplasia Type 2f
Pontocerebellar Hypoplasia 2f	Doid:0112329
Hypoplasia, Pontocerebellar, Type 2f

Pontocerebellar Hypoplasia, Type 11

PCH11	Pontocerebellar Hypoplasia Type 11
Pontocerebellar Hypoplasia Due To Tbc1d23	Pontocerebellar Hypoplasia 11
Doid:0112324

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

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System 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-RS02638	CHMP1A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CHMP1A	VGNC	VGNC:27299
Rattus norvegicus	CHMP1A	RGD	RGD:1311083
Mus musculus	CHMP1A	MGD	MGI:1920159
Felis catus	CHMP1A	VGNC	VGNC:68731
Macaca mulatta	CHMP1A	VGNC	VGNC:71159
Canis familiaris	CHMP1A	VGNC	VGNC:39221

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