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  2. Hap1 - huntingtin-associated protein 1 Gene

Hap1 - huntingtin-associated protein 1 Gene

Rattus norvegicus

Also known as HAP1-A; HAP1-B

Gene ID: 29430 | Gene type: protein coding

About Hap1

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 Reference 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 Reference 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 Reference 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 Reference
Intra
Hap1 P54256 HTT Homo sapiens P42858
Y2H
9798945
Intra
Hap1 P54256 HTT Homo sapiens P42858 18615096
Intra
Hap1 P54256 Hgs Rattus norvegicus Q9JJ50
Y2H
12021262
Intra
Hap1 P54256 Hgs Rattus norvegicus Q9JJ50 12021262
Intra
Hap1 P54256 DCTN1 Homo sapiens Q14203 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 18615096
Intra
Hap1 P54256 Kif5a Mus musculus P33175 20152113
Cross: Cross-species interaction Intra: Intraspecies interaction

Orthologs Information

Species Symbol Source ID
Homo sapiens Hap1 NCBI NCBI:9001