Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9001
Gene name	Huntingtin associated protein 1
Gene symbol	HAP1
Synonyms (NCBI Gene)	HAP2HIP5HLPhHLP1
Chromosome	17
Chromosome location	17q21.2
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 cytosk

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miRTarBase ID	miRNA	Experiments	Reference
MIRT713241	hsa-miR-9500	HITS-CLIP	19536157
MIRT713240	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT493688	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT493689	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT493687	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT493686	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT493685	hsa-miR-4784	PAR-CLIP	23592263
MIRT493684	hsa-miR-4419a	PAR-CLIP	23592263
MIRT493683	hsa-miR-4510	PAR-CLIP	23592263
MIRT493682	hsa-miR-6127	PAR-CLIP	23592263
MIRT493681	hsa-miR-6129	PAR-CLIP	23592263
MIRT493680	hsa-miR-6130	PAR-CLIP	23592263
MIRT493679	hsa-miR-6133	PAR-CLIP	23592263
MIRT493678	hsa-miR-298	PAR-CLIP	23592263
MIRT493677	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT493676	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT493675	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT493673	hsa-miR-8085	PAR-CLIP	23592263
MIRT493674	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT493672	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT493671	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT493670	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT713241	hsa-miR-9500	HITS-CLIP	19536157
MIRT713240	hsa-miR-7-5p	HITS-CLIP	19536157
MIRT493688	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT493689	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT493687	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT493686	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT493685	hsa-miR-4784	PAR-CLIP	23592263
MIRT493684	hsa-miR-4419a	PAR-CLIP	23592263
MIRT493683	hsa-miR-4510	PAR-CLIP	23592263
MIRT493682	hsa-miR-6127	PAR-CLIP	23592263
MIRT493681	hsa-miR-6129	PAR-CLIP	23592263
MIRT493680	hsa-miR-6130	PAR-CLIP	23592263
MIRT493679	hsa-miR-6133	PAR-CLIP	23592263
MIRT493678	hsa-miR-298	PAR-CLIP	23592263
MIRT493677	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT493676	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT493675	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT493673	hsa-miR-8085	PAR-CLIP	23592263
MIRT493674	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT493672	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT493671	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT493670	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT1040619	hsa-miR-1253	CLIP-seq
MIRT1040620	hsa-miR-3185	CLIP-seq
MIRT1040621	hsa-miR-4640-5p	CLIP-seq
MIRT1040622	hsa-miR-4726-5p	CLIP-seq
MIRT1040623	hsa-miR-4773	CLIP-seq
MIRT1040624	hsa-miR-7	CLIP-seq
MIRT1040625	hsa-miR-1197	CLIP-seq
MIRT1040626	hsa-miR-1207-5p	CLIP-seq
MIRT1040627	hsa-miR-1245b-5p	CLIP-seq
MIRT1040628	hsa-miR-1291	CLIP-seq
MIRT1040629	hsa-miR-1321	CLIP-seq
MIRT1040630	hsa-miR-138	CLIP-seq
MIRT1040631	hsa-miR-1587	CLIP-seq
MIRT1040632	hsa-miR-3142	CLIP-seq
MIRT1040633	hsa-miR-3151	CLIP-seq
MIRT1040634	hsa-miR-328	CLIP-seq
MIRT1040635	hsa-miR-4270	CLIP-seq
MIRT1040636	hsa-miR-4299	CLIP-seq
MIRT1040637	hsa-miR-4302	CLIP-seq
MIRT1040638	hsa-miR-4417	CLIP-seq
MIRT1040639	hsa-miR-4441	CLIP-seq
MIRT1040640	hsa-miR-4447	CLIP-seq
MIRT1040641	hsa-miR-4462	CLIP-seq
MIRT1040642	hsa-miR-4472	CLIP-seq
MIRT1040643	hsa-miR-4488	CLIP-seq
MIRT1040644	hsa-miR-4492	CLIP-seq
MIRT1040645	hsa-miR-4493	CLIP-seq
MIRT1040646	hsa-miR-4498	CLIP-seq
MIRT1040647	hsa-miR-4525	CLIP-seq
MIRT1040648	hsa-miR-4656	CLIP-seq
MIRT1040649	hsa-miR-4675	CLIP-seq
MIRT1040650	hsa-miR-4697-5p	CLIP-seq
MIRT1040651	hsa-miR-4739	CLIP-seq
MIRT1040652	hsa-miR-4741	CLIP-seq
MIRT1040653	hsa-miR-4756-5p	CLIP-seq
MIRT1040654	hsa-miR-4763-3p	CLIP-seq
MIRT1040655	hsa-miR-491-5p	CLIP-seq
MIRT1040656	hsa-miR-541	CLIP-seq
MIRT1040657	hsa-miR-542-3p	CLIP-seq
MIRT1040658	hsa-miR-654-5p	CLIP-seq
MIRT1040659	hsa-miR-762	CLIP-seq
MIRT1040626	hsa-miR-1207-5p	CLIP-seq
MIRT1040630	hsa-miR-138	CLIP-seq
MIRT2008507	hsa-miR-2467-3p	CLIP-seq
MIRT2008508	hsa-miR-3125	CLIP-seq
MIRT2008509	hsa-miR-3158-5p	CLIP-seq
MIRT2008510	hsa-miR-3678-3p	CLIP-seq
MIRT2008511	hsa-miR-3916	CLIP-seq
MIRT2008512	hsa-miR-4252	CLIP-seq
MIRT1040636	hsa-miR-4299	CLIP-seq
MIRT2008513	hsa-miR-4690-3p	CLIP-seq
MIRT1040654	hsa-miR-4763-3p	CLIP-seq
MIRT2008514	hsa-miR-486-3p	CLIP-seq
MIRT1040624	hsa-miR-7	CLIP-seq
MIRT2240957	hsa-miR-3120-3p	CLIP-seq
MIRT2240958	hsa-miR-627	CLIP-seq
MIRT2240959	hsa-miR-924	CLIP-seq
MIRT1040630	hsa-miR-138	CLIP-seq
MIRT1040631	hsa-miR-1587	CLIP-seq
MIRT2388897	hsa-miR-3184	CLIP-seq
MIRT2388898	hsa-miR-423-5p	CLIP-seq
MIRT1040636	hsa-miR-4299	CLIP-seq
MIRT1040638	hsa-miR-4417	CLIP-seq
MIRT1040644	hsa-miR-4492	CLIP-seq
MIRT1040646	hsa-miR-4498	CLIP-seq
MIRT1040648	hsa-miR-4656	CLIP-seq
MIRT1040649	hsa-miR-4675	CLIP-seq
MIRT1040652	hsa-miR-4741	CLIP-seq
MIRT2008514	hsa-miR-486-3p	CLIP-seq
MIRT1040656	hsa-miR-541	CLIP-seq
MIRT1040657	hsa-miR-542-3p	CLIP-seq
MIRT1040658	hsa-miR-654-5p	CLIP-seq
MIRT1040659	hsa-miR-762	CLIP-seq
MIRT2450947	hsa-miR-1254	CLIP-seq
MIRT2450948	hsa-miR-3116	CLIP-seq
MIRT2240957	hsa-miR-3120-3p	CLIP-seq
MIRT2450949	hsa-miR-361-3p	CLIP-seq
MIRT2008513	hsa-miR-4690-3p	CLIP-seq
MIRT2450950	hsa-miR-545	CLIP-seq
MIRT1040624	hsa-miR-7	CLIP-seq
MIRT2450947	hsa-miR-1254	CLIP-seq
MIRT2450948	hsa-miR-3116	CLIP-seq
MIRT2240957	hsa-miR-3120-3p	CLIP-seq
MIRT2450950	hsa-miR-545	CLIP-seq
MIRT1040624	hsa-miR-7	CLIP-seq
MIRT1040624	hsa-miR-7	CLIP-seq

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Transcription factor	Regulation	Reference
SSB	Repression	11781104

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	7477378, 9668110, 18192679, 20515468, 21386698, 23532844, 25074808, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	9361024
GO:0006605	Process	Protein targeting	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9361024
GO:0007420	Process	Brain development	NAS	7477378
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0008090	Process	Retrograde axonal transport	ISS
GO:0008104	Process	Intracellular protein localization	IMP	18922795
GO:0015031	Process	Protein transport	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	9361024
GO:0016234	Component	Inclusion body	IDA	21386698
GO:0017022	Function	Myosin binding	IBA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0017157	Process	Regulation of exocytosis	ISS
GO:0021549	Process	Cerebellum development	IEA
GO:0021979	Process	Hypothalamus cell differentiation	IEA
GO:0022008	Process	Neurogenesis	IBA
GO:0022008	Process	Neurogenesis	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031587	Process	Positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS
GO:0032230	Process	Positive regulation of synaptic transmission, GABAergic	ISS
GO:0032901	Process	Positive regulation of neurotrophin production	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	ISS
GO:0047496	Process	Vesicle transport along microtubule	IBA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IBA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	ISS
GO:0048311	Process	Mitochondrion distribution	IBA
GO:0048403	Function	Brain-derived neurotrophic factor binding	ISS
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0098793	Component	Presynapse	IEA
GO:1902430	Process	Negative regulation of amyloid-beta formation	ISS
GO:1902513	Process	Regulation of organelle transport along microtubule	IEA
GO:1902513	Process	Regulation of organelle transport along microtubule	ISS
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA
GO:1902857	Process	Positive regulation of non-motile cilium assembly	ISS
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
600947	4812	ENSG00000173805

P54257

Protein name

Huntingtin-associated protein 1 (HAP-1) (Neuroan 1)

Protein function

Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04849	HAP1_N	108 → 460	HAP1 N-terminal conserved region	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in brain. Selectively expressed in neurons.

Sequence

MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQF
LSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGR
GTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYL
LEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEIL
YLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLI
SQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEAS
QQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMYGAETEKLQKQLASEKEIQM
QLQEESVWVGSQLQDLREKYMDCGGMLIEMQEEVKTLRQQPPVSTGSATHYPYSVPLETL
PGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEE
GLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELD
EATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPA
ASRTSCRSSCR

Sequence length

671

Interactions

View interactions

	KEGG
	GABAergic synapse Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAP1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	33948580	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Associate	31959860	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Stimulate	24831687	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Associate	33948580	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Associate	25932641	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Associate	28053321	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Noise Induced	Associate	17009596	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Associate	16926287	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Associate	22720673	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammation	Stimulate	28053321	★★★★★ ★☆☆☆☆ Found in Text Mining only
Influenza Human	Associate	35893690	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbar Stenosis Familial	Associate	23807322	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Stimulate	19282111	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	19282111	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Inhibit	30560333	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Associate	35459137	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Associate	37725244	★★★★★ ★☆☆☆☆ Found in Text Mining only

HAP1 (huntingtin associated protein 1)