InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-49697

huntingtin-associated protein 1

IDBP-49699

huntingtin-associated protein 1

IDBP-49701

huntingtin-associated protein 1

IDBP-242593

huntingtin-associated protein 1

IDBP-378206

huntingtin-associated protein 1

IDBP-378207

huntingtin-associated protein 1

IDBP-378209

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

ENSMUSG00000006930

View Gene Order

Pathways

NETPATH

REACTOME

KEGG

hsa05016

Huntington's disease pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.158300 Hs.669865

RefSeq

NM_001079870 NM_001079871 NM_177977

HUGO

OMIM

CCDS

CCDS11406 CCDS42338 CCDS42339

HPRD

02972

IMGT

EMBL

GenPept

RNA Seq Atlas