Gene table of CHMP1A : charged multivesicular body protein 1A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHMP1A	OMIM link	Number of associated genes	genes
PS607596	PONTOCEREBELLAR HYPOPLASIA	ClinVar, OMIM	link to OMIM	13	AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
identical protein binding	GO:0042802	2.63
transition metal ion binding	GO:0046914	2.48
cation binding	GO:0043169	1.4
zinc ion binding	GO:0008270	2.66
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
metallopeptidase activity	GO:0008237	4.5
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
peptidase activity	GO:0008233	3.23
metal ion binding	GO:0046872	1.41
protein dimerization activity	GO:0046983	2.72
protein domain specific binding	GO:0019904	3.32
protein homodimerization activity	GO:0042803	3.16