Gene Gene information from NCBI Gene database.
Entrez ID 57132
Gene name Charged multivesicular body protein 1B
Gene symbol CHMP1B
Synonyms (NCBI Gene)
C10orf2C18-ORF2C18orf2CHMP1.5Vps46-2Vps46BhVps46-2
Chromosome 18
Chromosome location 18p11.21
Summary CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor p
miRNA miRNA information provided by mirtarbase database.
658
miRTarBase ID miRNA Experiments Reference
MIRT661499 hsa-miR-3929 HITS-CLIP 23824327
MIRT661498 hsa-miR-4419b HITS-CLIP 23824327
MIRT661497 hsa-miR-4478 HITS-CLIP 23824327
MIRT661496 hsa-miR-3622a-3p HITS-CLIP 23824327
MIRT661495 hsa-miR-3622b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IDA 17984323
GO:0000776 Component Kinetochore IDA 26040712
GO:0000776 Component Kinetochore IEA
GO:0000815 Component ESCRT III complex IBA
GO:0000815 Component ESCRT III complex IDA 24878737
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606486 24287 ENSG00000255112
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7LBR1
Protein name Charged multivesicular body protein 1b (CHMP1.5) (Chromatin-modifying protein 1b) (CHMP1b) (Vacuolar protein sorting-associated protein 46-2) (Vps46-2) (hVps46-2)
Protein 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 intral
PDB 3EAB , 3JC1 , 4TXQ , 4TXR , 6E8G , 6TZ4 , 6TZ5 , 6TZ9 , 8V2Q , 8V2R , 8V2S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03357 Snf7 7 176 Snf7 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta and brain. {ECO:0000269|PubMed:11474171}.
Sequence
Sequence length 199
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Virion - Hepatitis viruses
Endocytosis
Necroptosis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder PSYGENET_DG 16094257, 17239033
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blepharoptosis Ptosis BEFREE 24061067
★☆☆☆☆
Found in Text Mining only
Chronic progressive external ophthalmoplegia Progressive External Ophthalmoplegia BEFREE 14635118, 15668446, 19705478, 20659899, 26689116, 26838077
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 25193669
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 20495966
★☆☆☆☆
Found in Text Mining only
Friedreich Ataxia Friedreich Ataxia BEFREE 24011957
★☆☆☆☆
Found in Text Mining only
Gonadal dysgenesis XX type deafness Gonadal Dysgenesis BEFREE 25956234, 26657938, 27087618
★☆☆☆☆
Found in Text Mining only
Gonadal dysgenesis XX type deafness Gonadal dysgenesis Pubtator 26657938, 27087618 Associate
★☆☆☆☆
Found in Text Mining only
Inclusion Body Myositis (disorder) Inclusion Body Myositis BEFREE 25638290
★☆☆☆☆
Found in Text Mining only
Infantile onset spinocerebellar ataxia Spinocerebellar Ataxia BEFREE 16135556, 20659899, 22353293, 24816431
★☆☆☆☆
Found in Text Mining only