• Gene id: 9001

Gene Summary

• Gene Symbol: HAP1   Gene   UCSC   Ensembl
• Aliases: HAP2, HIP5, HLP, hHLP1
• Gene name: huntingtin associated protein 1
• Alternate names: huntingtin-associated protein 1, HAP-1, epididymis secretory sperm binding protein, huntingtin-associated protein 2, neuroan 1,
• Gene location: 17q21.2 (41734645: 41717738)     Exons: 13     NC_000017.11
• Gene summary(Entrez): 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 cytosk
• OMIM: 605607

Protein Summary

• Protein general information: P54257  
  • Name: Huntingtin associated protein 1 (HAP 1) (Neuroan 1)
  • Length: 671  
  • Mass: 75506
  • Tissue specificity: Predominantly expressed in brain. Selectively expressed in neurons.
• Sequence:

  MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAG
  AKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAF
  IRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEEN
  SKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLI
  SQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLE
  NYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQMQLQEESVWVGSQLQDLREKYMDCGGMLIEM
  QEEVKTLRQQPPVSTGSATHYPYSVPLETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFR
  YSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELD
  EATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR

• Structural information:
  • Protein Domains: (106..46-)
    (/note="HAP1-N-terminal")
  • Interpro: IPR006933  
  • STRING: ENSP00000334002
• Other Databases: GeneCards:  HAP1  Malacards:  HAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098957	anterograde axonal transport of mitochondrion	IBA	biological process
GO:0047496	vesicle transport along microtubule	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0022008	neurogenesis	IBA	biological process
GO:0006605	protein targeting	IBA	biological process
GO:0048311	mitochondrion distribution	IBA	biological process
GO:0048011	neurotrophin TRK receptor signaling pathway	IBA	biological process
GO:0017022	myosin binding	IBA	molecular function
GO:0008104	protein localization	IBA	biological process
GO:0008089	anterograde axonal transport	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0016234	inclusion body	IDA	cellular component
GO:1902857	positive regulation of non-motile cilium assembly	ISS	biological process
GO:1902513	regulation of organelle transport along microtubule	ISS	biological process
GO:0017157	regulation of exocytosis	ISS	biological process
GO:0048403	brain-derived neurotrophic factor binding	ISS	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0032901	positive regulation of neurotrophin production	ISS	biological process
GO:0031587	positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	biological process
GO:0008090	retrograde axonal transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048011	neurotrophin TRK receptor signaling pathway	ISS	biological process
GO:1902430	negative regulation of amyloid-beta formation	ISS	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	ISS	biological process
GO:0032230	positive regulation of synaptic transmission, GABAergic	ISS	biological process
GO:0008089	anterograde axonal transport	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0031587	positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	biological process
GO:0047496	vesicle transport along microtubule	IEA	biological process
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:1902513	regulation of organelle transport along microtubule	IEA	biological process
GO:1902857	positive regulation of non-motile cilium assembly	IEA	biological process
GO:0005776	autophagosome	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0021979	hypothalamus cell differentiation	IEA	biological process
GO:0048011	neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008104	protein localization	IMP	biological process
GO:0007420	brain development	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04727	GABAergic synapse

Diseases

Associated diseases	References
Huntington's disease	PMID:20512606
Huntington's disease	PMID:18192679
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray