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Hap1 - huntingtin-associated protein 1 Gene

Also Known as HAP1-A; HAP1-B

Species: Rattus norvegicus

Gene Type: protein coding

Gene ID: 29430

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 is homologous to the human huntingtin-associated protein 1. The human protein 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. Two transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Hap1 Products (2)

mRNA	Protein	Name
NM_024133.4	NP_077047.2	huntingtin-associated protein 1 isoform A
NM_177982.3	NP_817091.2	huntingtin-associated protein 1 isoform B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables brain-derived neurotrophic factor binding	IDA IDA: Inferred from direct assay	19996106	RGD
enables identical protein binding	IPI IPI: Inferred from physical interaction	9361024	RGD
enables protein binding	IPI IPI: Inferred from physical interaction	9285789	RGD
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	12873381	RGD
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	12873381	RGD
enables transmembrane transporter binding	IDA IDA: Inferred from direct assay	12873381	RGD

Biological Process GO Annotation	Evidence	References	Source
involved in anterograde axonal transport	IMP IMP: Inferred from mutant phenotype	19996106	RGD
involved in cellular response to growth factor stimulus	IEP IEP: Inferred from expression pattern	10924259	RGD
involved in negative regulation of amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	22731248	RGD
involved in neuron projection development	IDA IDA: Inferred from direct assay	17166838	RGD
involved in positive regulation of epidermal growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	12890790	RGD
involved in positive regulation of inclusion body assembly	IDA IDA: Inferred from direct assay	9798945	RGD
involved in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	12873381	RGD
involved in positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	10924259	RGD
involved in positive regulation of neurotrophin production	IDA IDA: Inferred from direct assay	21357693	RGD
involved in positive regulation of neurotrophin production	IMP IMP: Inferred from mutant phenotype	19996106	RGD
involved in positive regulation of synaptic transmission, GABAergic	IDA IDA: Inferred from direct assay	20152113	RGD
involved in positive regulation of synaptic transmission, GABAergic	IMP IMP: Inferred from mutant phenotype	20152113	RGD
involved in regulation of postsynaptic neurotransmitter receptor internalization	IDA IDA: Inferred from direct assay	15310851	RGD
involved in regulation of postsynaptic neurotransmitter receptor internalization	IEP IEP: Inferred from expression pattern	15310851	RGD
involved in regulation of postsynaptic neurotransmitter receptor internalization	IMP IMP: Inferred from mutant phenotype	15310851	RGD
involved in retrograde axonal transport	IMP IMP: Inferred from mutant phenotype	19996106	RGD

Cellular Component GO Annotation	Evidence	References	Source
is active in GABA-ergic synapse	IDA IDA: Inferred from direct assay	15310851	RGD
is active in GABA-ergic synapse	IMP IMP: Inferred from mutant phenotype	15310851	RGD
located in axon terminus	IDA IDA: Inferred from direct assay	10924259	RGD
located in cytoplasm	IDA IDA: Inferred from direct assay	17166838	RGD
located in dendrite	IDA IDA: Inferred from direct assay	10924259	RGD
located in growth cone	IDA IDA: Inferred from direct assay	10924259	RGD
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	10924259	RGD
is active in postsynaptic cytosol	IDA IDA: Inferred from direct assay	9742138	RGD
is active in presynaptic cytosol	IDA IDA: Inferred from direct assay	9742138	RGD

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
huntingtin-associated protein 1	HAP-1

Hap1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Hap1	P54256	HTT	Homo sapiens	P42858	Y2H	9798945
Intra	Hap1	P54256	HTT	Homo sapiens	P42858	Pull Down	18615096
Intra	Hap1	P54256	Hgs	Rattus norvegicus	Q9JJ50	Y2H	12021262
Intra	Hap1	P54256	Hgs	Rattus norvegicus	Q9JJ50	Confocal	12021262
Intra	Hap1	P54256	DCTN1	Homo sapiens	Q14203	Pull Down	18615096
Intra	Hap1	P54256	DCTN1	Homo sapiens	Q14203	Y2H	9361024
Intra	Hap1	P54256	PCM1	Homo sapiens	Q15154	Y2H	9361024
Intra	Hap1	P54256	Hap1	Rattus norvegicus	P54256	Y2H	9361024
Intra	Hap1	P54256	Hap1	Rattus norvegicus	P54256	Y2H	9798945
Intra	Hap1	P54256	KIF5B	Homo sapiens	P33176	Pull Down	18615096
Intra	Hap1	P54256	Kif5a	Mus musculus	P33175	Pull Down	20152113

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-170316	Ibetazol	Inhibitor	99.80%	Unkown
HY-150221	DB008	Inhibitor	98.47%	Unkown
HY-153119	TMX-4153	Degrader	98.96%	Unkown
HY-180573	ART5537	Inhibitor	99.84%	Unkown
HY-174866	BT-O2C	Inhibitor	99.31%	Unkown
HY-RS00815	APEX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P4096	HAP-1		99.08%	Unkown
HY-173281	MAT2A-IN-24	Inhibitor	/	Unkown
HY-174296	TMX-4102		/	Unkown
HY-RS06000	HAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17886	Hap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21480	Apex1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24355	Hap1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Hap1	NCBI	NCBI:9001