CHMP1B (charged multivesicular body protein 1B)

2014-11-01  

Identity

HGNC
LOCATION
18p11.21
LOCUSID
ALIAS
C10orf2,C18-ORF2,C18orf2,CHMP1.5,Vps46-2,Vps46B,hVps46-2

Other Information

Locus ID:

NCBI: 57132
MIM: 606486
HGNC: 24287
Ensembl: ENSG00000255112

Variants:

dbSNP: 57132
ClinVar: 57132
TCGA: ENSG00000255112
COSMIC: CHMP1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000255112ENST00000526991Q7LBR1

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189977802008Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B.89
161747322005Structure and ESCRT-III protein interactions of the MIT domain of human VPS4A.72
177118582007The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation.63
193285582009Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.11
216169152011Calpain-7 binds to CHMP1B at its second α-helical region and forms a ternary complex with IST1.2
160942572005Association analysis of CHMP1.5 genetic variation and bipolar disorder.1

Citation

Dessen P

CHMP1B (charged multivesicular body protein 1B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61802/chmp1b