CHMP1A - charged multivesicular body protein 1A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5119

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16730941	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11559748	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	17928862	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	14505570	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in cell division	IMP IMP: Inferred from mutant phenotype	19129479	GOA
involved in late endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	20616062	GOA
acts upstream of or within mitotic chromosome condensation	IDA IDA: Inferred from direct assay	11559747	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	16554368	GOA
acts upstream of or within negative regulation of gene expression	IDA IDA: Inferred from direct assay	11559747	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040713	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	24482116	GOA
involved in regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	17984323	GOA
involved in vesicle-mediated transport	IDA IDA: Inferred from direct assay	11559748	GOA
involved in viral budding from plasma membrane	IDA IDA: Inferred from direct assay	24878737	GOA
involved in viral budding via host ESCRT complex	IDA IDA: Inferred from direct assay	24878737	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in amphisome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in autophagosome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in condensed nuclear chromosome	IDA IDA: Inferred from direct assay	11559747	GOA
located in early endosome	IDA IDA: Inferred from direct assay	11559748	GOA
located in endomembrane system	IDA IDA: Inferred from direct assay	11559748	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	26040712	GOA
located in kinetochore microtubule	IDA IDA: Inferred from direct assay	26040712	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in microtubule organizing center	IDA IDA: Inferred from direct assay	11559748	GOA
located in midbody	IDA IDA: Inferred from direct assay	26040712	GOA
located in multivesicular body membrane	IDA IDA: Inferred from direct assay	16554368	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	11559747	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	26040713	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24878737	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

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

CHMP1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHMP1A	Q9HD42	USP8	Homo sapiens	P40818	Anti Tag CoIP	17711858
Intra	CHMP1A	Q9HD42	STAMBP	Homo sapiens	O95630	Y2H	21988832
Intra	CHMP1A	Q9HD42	STAMBP	Homo sapiens	O95630	Y2H	16730941
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Anti Tag CoIP	33961781
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H	16730941
Intra	CHMP1A	Q9HD42	VPS4A	Homo sapiens	Q9UN37	Y2H	16730941
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	VTA1	Homo sapiens	Q9NP79	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	CHMP1A	Homo sapiens	Q9HD42	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	CHMP1B	Homo sapiens	Q7LBR1	Y2H	16730941
Intra	CHMP1A	Q9HD42	MITD1	Homo sapiens	Q8WV92	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	MITD1	Homo sapiens	Q8WV92	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	CHMP1A	Q9HD42	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	CHMP1A	Q9HD42	C14orf119	Homo sapiens	Q9NWQ9	Validated Y2H	32296183
Intra	CHMP1A	Q9HD42	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	CHMP1A	Q9HD42	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	CHMP1A	Q9HD42	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02638	CHMP1A Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CHMP1A	NCBI