Gene id |
5119 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
CHMP1A Gene UCSC Ensembl |
Aliases |
CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A |
Gene name |
charged multivesicular body protein 1A |
Alternate names |
charged multivesicular body protein 1a, charged multivesicular body protein 1/chromatin modifying protein 1, chromatin modifying protein 1A, procollagen (type III) N-endopeptidase, protease, metallo, 1, 33kD, vacuolar protein sorting-associated protein 46-1, |
Gene location |
16q24.3 (107140016: 107484922) Exons: 12 NC_000001.11
|
Gene summary(Entrez) |
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 prot
|
OMIM |
164010 |
Protein Summary
|
Protein general information
| Q9HD42
Name: Charged multivesicular body protein 1a (Chromatin modifying protein 1a) (CHMP1a) (Vacuolar protein sorting associated protein 46 1) (Vps46 1) (hVps46 1)
Length: 196 Mass: 21703
Tissue specificity: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63. {ECO
|
Sequence |
MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASK VQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLI MQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN
|
Structural information |
|
Other Databases |
GeneCards: CHMP1A Malacards: CHMP1A |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:1904903 |
ESCRT III complex disasse mbly
|
NAS |
biological process |
GO:0036258 |
multivesicular body assem bly
|
NAS |
biological process |
GO:0039702 |
viral budding via host ES CRT complex
|
NAS |
biological process |
GO:0000815 |
ESCRT III complex
|
IBA |
cellular component |
GO:0015031 |
protein transport
|
IBA |
biological process |
GO:0005771 |
multivesicular body
|
IBA |
cellular component |
GO:0032509 |
endosome transport via mu ltivesicular body sorting pathway
|
IBA |
biological process |
GO:0045324 |
late endosome to vacuole transport
|
IBA |
biological process |
GO:0061952 |
midbody abscission
|
IMP |
biological process |
GO:0007076 |
mitotic chromosome conden sation
|
IEA |
biological process |
GO:0016192 |
vesicle-mediated transpor t
|
IEA |
biological process |
GO:0016363 |
nuclear matrix
|
IEA |
cellular component |
GO:0000815 |
ESCRT III complex
|
IEA |
cellular component |
GO:0007034 |
vacuolar transport
|
IEA |
biological process |
GO:0051301 |
cell division
|
IEA |
biological process |
GO:0005768 |
endosome
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0007049 |
cell cycle
|
IEA |
biological process |
GO:0015031 |
protein transport
|
IEA |
biological process |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0008237 |
metallopeptidase activity
|
TAS |
molecular function |
GO:0008270 |
zinc ion binding
|
TAS |
molecular function |
GO:0042802 |
identical protein binding
|
IPI |
molecular function |
GO:0042802 |
identical protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0016363 |
nuclear matrix
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0010008 |
endosome membrane
|
IEA |
cellular component |
GO:0006508 |
proteolysis
|
IEA |
biological process |
GO:0016363 |
nuclear matrix
|
IDA |
cellular component |
GO:0016192 |
vesicle-mediated transpor t
|
IDA |
biological process |
GO:0007076 |
mitotic chromosome conden sation
|
IDA |
biological process |
GO:0005815 |
microtubule organizing ce nter
|
IDA |
cellular component |
GO:0005769 |
early endosome
|
IDA |
cellular component |
GO:0045892 |
negative regulation of tr anscription, DNA-template d
|
IDA |
biological process |
GO:0016458 |
gene silencing
|
IDA |
biological process |
GO:0012505 |
endomembrane system
|
IDA |
cellular component |
GO:0000794 |
condensed nuclear chromos ome
|
IDA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0045786 |
negative regulation of ce ll cycle
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0070062 |
extracellular exosome
|
HDA |
cellular component |
GO:0042803 |
protein homodimerization activity
|
IPI |
molecular function |
GO:0051301 |
cell division
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0019904 |
protein domain specific b inding
|
IPI |
molecular function |
GO:0019904 |
protein domain specific b inding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0042803 |
protein homodimerization activity
|
IPI |
molecular function |
GO:0010824 |
regulation of centrosome duplication
|
IMP |
biological process |
GO:1901673 |
regulation of mitotic spi ndle assembly
|
IMP |
biological process |
GO:0007080 |
mitotic metaphase plate c ongression
|
IMP |
biological process |
GO:0006997 |
nucleus organization
|
IMP |
biological process |
|
|
|
|
Associated diseases |
References |
Pontocerebellar hypoplasia | KEGG:H00897 |
Pontocerebellar hypoplasia | KEGG:H00897 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|