HAP1

GENE INFORMATION

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Gene name

HAP1 (HGNC Symbol)

Synonyms

HAP2, hHLP1, HIP5, HLP

Description

Huntingtin-associated protein 1 (HGNC Symbol)

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]

Chromosome

17

Cytoband

q21.2

Chromosome location (bp)

41717742 - 41734644

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173805 (version 78.38)

Entrez gene

9001

UniProt

P54257 (UniProt - Evidence at protein level)

neXtProt

NX_P54257

Antibodypedia

HAP1 antibodies
 

PROTEIN VIEW

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HAP1-001
 
HAP1-002
 
HAP1-003
 
HAP1-004
 
HAP1-005
 
HAP1-006
 
HAP1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HAP1-001 ENSP00000334002
ENST00000347901
P54257
Show all »
Show » Show » 619 69.6 No 0
HAP1-002 ENSP00000343170
ENST00000341193
P54257
Show all »
Show » Show » 602 67.6 No 0
HAP1-003 ENSP00000388981
ENST00000442364
H7BZC9
Show all »
Show » 73 8.7 No 0
HAP1-004 ENSP00000404640
ENST00000458656
H7C295
Show all »
Show » 111 12.7 No 0
HAP1-005 ENSP00000397242
ENST00000455021
Show » 40 4.4 No 0
HAP1-006 ENSP00000309392
ENST00000310778
P54257
Show all »
Show » Show » 671 75.5 No 0
HAP1-007 ENSP00000377513
ENST00000393939
P54257
Show all »
Show » Show » 594 66.7 No 0