Homo sapiens Gene: HAP1
Summary
InnateDB Gene IDBG-49695.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HAP1
Gene Name huntingtin-associated protein 1
Synonyms HAP2; hHLP1; HIP5; HLP;
Species Homo sapiens
Ensembl Gene ENSG00000173805
Encoded Proteins
huntingtin-associated protein 1
huntingtin-associated protein 1
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 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Huntington\'s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:41717742-41734644
Strand Reverse strand
Band q21.2
Transcripts
ENST00000347901 ENSP00000334002
ENST00000341193 ENSP00000343170
ENST00000310778 ENSP00000309392
ENST00000393939 ENSP00000377513
ENST00000455021 ENSP00000397242
ENST00000442364 ENSP00000388981
ENST00000458656 ENSP00000404640
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 82 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 82 [view]
Protein-Protein 82 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007268 synaptic transmission
GO:0007420 brain development
GO:0008104 protein localization
GO:0047496 vesicle transport along microtubule
Cellular Component
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016023 cytoplasmic membrane-bounded vesicle
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
KEGG
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL H7C295
UniProt Splice Variant
Entrez Gene 9001
UniGene Hs.158300 Hs.669865
RefSeq NM_001079870 NM_001079871 NM_177977
HUGO HGNC:4812
OMIM 600947
CCDS CCDS11406 CCDS42338 CCDS42339
HPRD 02972
IMGT
EMBL AC109319
GenPept
RNA Seq Atlas 9001