CHMP4A (charged multivesicular body protein 4A)

2014-11-01  

Identity

HGNC
LOCATION
14q12
LOCUSID
ALIAS
C14orf123,CHMP4,CHMP4B,HSPC134,SHAX2,SNF7,SNF7-1,VPS32-1,VPS32A
FUSION GENES

Other Information

Locus ID:

NCBI: 29082
MIM: 610051
HGNC: 20274
Ensembl: ENSG00000254505

Variants:

dbSNP: 29082
ClinVar: 29082
TCGA: ENSG00000254505
COSMIC: CHMP4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254505ENST00000347519Q9BY43
ENSG00000254505ENST00000530996H0YIN6
ENSG00000254505ENST00000533011E9PQ80
ENSG00000254505ENST00000533523E9PQI5
ENSG00000254505ENST00000534106H0YI89

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
182091002008Plasma membrane deformation by circular arrays of ESCRT-III protein filaments.204
175477052007Structure/function analysis of four core ESCRT-III proteins reveals common regulatory role for extreme C-terminal domain.97
185115622008ALIX-CHMP4 interactions in the human ESCRT pathway.91
156321322005Interaction of the mammalian endosomal sorting complex required for transport (ESCRT) III protein hSnf7-1 with itself, membranes, and the AAA+ ATPase SKD1.75
222582542012Regulation of CHMP4/ESCRT-III function in human immunodeficiency virus type 1 budding by CC2D1A.14
219750122011ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons.7
235272012013Alix serves as an adaptor that allows human parainfluenza virus type 1 to interact with the host cell ESCRT system.6
208888382010High-throughput screening identifies CHMP4A associated with hypoxia-inducible factor 1.2

Citation

Dessen P

CHMP4A (charged multivesicular body protein 4A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61805/chmp4a-(charged-multivesicular-body-protein-4a)