Gene

chmp1a

ID
ZDB-GENE-040426-1474
Name
charged multivesicular body protein 1A
Symbol
chmp1a Nomenclature History
Previous Names
  • pcoln3
  • wu:fb50a12
  • zgc:65914
  • zgc:85863
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Involved in cerebellum development. Predicted to localize to ESCRT III complex and multivesicular body. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 8. Orthologous to human CHMP1A (charged multivesicular body protein 1A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Mochida et al., 2012
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Mochida et al., 2012
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With chmp1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
pontocerebellar hypoplasia type 8 Alliance Pontocerebellar hypoplasia, type 8 614961
Associated With chmp1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR005024 Snf7 family
Domain Details Per Protein
Protein Length Snf7 family
UniProtKB:Q6PHF0 198
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-chmp1a polyclonal IgG Rabbit
  • WB
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations