2. Gene
  3. CHMP1A - charged multivesicular body protein 1A Gene

CHMP1A - charged multivesicular body protein 1A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

Snf7: Snf7 (6 - 172)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02638 CHMP1A Human Pre-designed siRNA Set A Pre-designed Sets / 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