Mus musculus Gene: Hap1
Summary
InnateDB Gene IDBG-211346.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hap1
Gene Name huntingtin-associated protein 1
Synonyms HAP-1
Species Mus musculus
Ensembl Gene ENSMUSG00000006930
Encoded Proteins
huntingtin-associated protein 1
huntingtin-associated protein 1
huntingtin-associated protein 1
huntingtin-associated protein 1
huntingtin-associated protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington\'s disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:100347327-100356128
Strand Reverse strand
Band D
Transcripts
ENSMUST00000103124 ENSMUSP00000099413
ENSMUST00000138603 ENSMUSP00000133356
ENSMUST00000146878 ENSMUSP00000134625
ENSMUST00000173630 ENSMUSP00000134050
ENSMUST00000174635 ENSMUSP00000133831
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 62 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 62 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008104 protein localization
GO:0047496 vesicle transport along microtubule
Cellular Component
GO:0016023 cytoplasmic membrane-bounded vesicle
Orthologs
Species
Homo sapiens
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
KEGG
Huntington's disease pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
Huntington's disease pathway
INOH
PID NCI
Cross-References
SwissProt O35668
TrEMBL G3UZT4
UniProt Splice Variant
Entrez Gene 15114
UniGene Mm.281700
RefSeq NM_177981 XM_006532249 XM_006532250 XM_006532251 XM_006532252 NM_010404
OMIM
CCDS CCDS56806 CCDS25419
HPRD
IMGT
MGI ID MGI:1261831
MGI Symbol Hap1
EMBL AJ000262 AJ002271 AJ003128 AL590968 BC034089 BC053043
GenPept AAH34089 AAH53043 CAA03978 CAA05286 CAA05883
RNA Seq Atlas 15114