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Gene : CHMP1A Homo sapiens

Name  ? charged multivesicular body protein 1A Cytological Location  16q24.3
Brief Description  charged multivesicular body protein 1A
Description  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]
  • synonyms:
  • VPS46A,
  • PRSM1,
  • OTTHUMG00000169521,
  • chromatin modifying protein 1A,
  • PCOLN3,
  • Vps46A,
  • KIAA0047,
  • uc002fnu.5,
  • PCOLN3,
  • CHMP1,
  • CHMP1A,
  • NM_002768,
  • CHMP1,
  • HGNC:8740,
  • procollagen (type III) N-endopeptidase,
  • U58048,
  • PCH8,
  • VPS46-1,
  • PRSM1
  • identifiers:
  • 5119,
  • ENSG00000131165,
  • CHMP1A

Genome feature

Region: gene ? Length: 13274  
Location: 16:89644435-89657708 reverse strand Cyto location: 16q24.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results