CHMP1A
entrez
5119
canonical
uniprot
Q9HD42
canonical
ensembl
ENSG00000131165
resolver
ensp
ENSP00000380998
resolver
ensp
ENSP00000442120
resolver
ensp
ENSP00000501794
resolver
ensp
ENSP00000502022
resolver
ensp
ENSP00000502267
resolver
enst
ENST00000674799
resolver
enst
ENST00000675909
resolver
genesymbol
CHMP1A
resolver
genesymbol_syn
CHMP1
resolver
genesymbol_syn
KIAA0047
resolver
genesymbol_syn
PCOLN3
resolver
genesymbol_syn
PRSM1
resolver
hgnc
HGNC:8740
resolver
uniprot
A0A6Q8PFX8
resolver
uniprot
A2RU09
resolver
uniprot
Q14468
resolver
uniprot
Q15779
resolver
uniprot
Q96G31
resolver
uniprot_entry
A0A6Q8PFX8_HUMAN
resolver
uniprot_entry
CHM1A_HUMAN
resolver
uniprot_sec
A2RU09
resolver
uniprot_sec
Q14468
resolver
uniprot_sec
Q15779
resolver
uniprot_sec
Q96G31
resolver
amino_acid_sequence
MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 8 (PCH8) [MIM:614961]: An autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269|PubMed:23023333}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing. {ECO:0000269|PubMed:11559747, ECO:0000269|PubMed:11559748, ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:23045692}.
uniprot
proteins
mass_dalton
21703
uniprot
proteins
mutagenesis
MUTAGEN 191; /note="L->A: No effect on interaction with IST1; when associated with L-194."; /evidence="ECO:0000269|PubMed:19129479"; MUTAGEN 194; /note="L->A: No effect on interaction with IST1; when associated with L-194."; /evidence="ECO:0000269|PubMed:19129479
uniprot
proteins
protein_family
SNF7 family
uniprot
proteins
pubmed
11559747
uniprot
proteins
pubmed
11559748
uniprot
proteins
pubmed
14505570
uniprot
proteins
pubmed
14519844
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17928862
uniprot
proteins
pubmed
19129479
uniprot
proteins
pubmed
19129480
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23023333
uniprot
proteins
pubmed
23045692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7584044
uniprot
proteins
pubmed
8863740
uniprot
proteins
sequence_length
196
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein. Nucleus matrix. Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin.
uniprot
proteins