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Aliases for HAP1 Gene

Aliases for HAP1 Gene

  • Huntingtin-Associated Protein 1 2 3 5
  • Neuroan 1 2 3 4
  • HAP-1 3 4
  • HAP2 3 4
  • Huntingtin-Associated Protein 2 3
  • HHLP1 3
  • HIP5 3
  • HLP1 4
  • HLP 3

External Ids for HAP1 Gene

Previous HGNC Symbols for HAP1 Gene

  • HAP2

Previous GeneCards Identifiers for HAP1 Gene

  • GC17M039433
  • GC17M041928
  • GC17M039782
  • GC17M040253
  • GC17M040254
  • GC17M037133
  • GC17M039873
  • GC17M035641

Summaries for HAP1 Gene

Entrez Gene Summary for HAP1 Gene

  • 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]

GeneCards Summary for HAP1 Gene

HAP1 (Huntingtin-Associated Protein 1) is a Protein Coding gene. Diseases associated with HAP1 include Huntington Disease and Spinocerebellar Ataxia 17. Among its related pathways are Circadian entrainment and fMLP Pathway. GO annotations related to this gene include ion channel binding and brain-derived neurotrophic factor binding. An important paralog of this gene is TRAK2.

UniProtKB/Swiss-Prot for HAP1 Gene

  • 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 in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to faciltate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAP1 Gene

Genomics for HAP1 Gene

Regulatory Elements for HAP1 Gene

Enhancers for HAP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HAP1 on UCSC Golden Path with GeneCards custom track

Promoters for HAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HAP1 Gene

Chromosome:
17
Start:
41,717,742 bp from pter
End:
41,734,646 bp from pter
Size:
16,905 bases
Orientation:
Minus strand

Genomic View for HAP1 Gene

Genes around HAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAP1 Gene

Proteins for HAP1 Gene

  • Protein details for HAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54257-HAP1_HUMAN
    Recommended name:
    Huntingtin-associated protein 1
    Protein Accession:
    P54257
    Secondary Accessions:
    • A8MQB5
    • O75358
    • Q59GK4
    • Q9H4G3
    • Q9HA98
    • Q9NY90

    Protein attributes for HAP1 Gene

    Size:
    671 amino acids
    Molecular mass:
    75506 Da
    Quaternary structure:
    • Self-associates. Interacts with HTT/huntingtin; enhanced by an expanded polyglutamine repeat within HTT. Interacts with DCTN1; decreased in presence of HTT with expanded polyglutamine repeat. Interacts with KLC2. Interacts with ITPR1 and APP. Interacts with AR; decreased by an expanded polyglutamine repeat within AR. Interacts with YWHAZ. Interacts with BDNF and SORT1; probably forming a complex involved in proBDNF trafficking, degradation and processing. Interacts with TBP, AHI1, HGS and KALRN. Interacts with KIF5A, KIF5B, KIF5C and GABRB3; indicative for an HAP1:KIF5 complex transporting a GABA(A) receptor as cargo. Interacts with ATXN3; in STBs with ATXN3 poly-Gln region with 27 repeats (normal population) and 79 repeats (spinocerebellar ataxia 3 (SCA3) patients) associating in the same strength. Interacts with NTRK2; HAP1 stabilizes association of NTRK2 with SORT1 preventing NTRK2 degradation. Interacts with CCDC113.
    Miscellaneous:
    • Was not found in huntingtin-containing aggregates in huntigton disease (HD) tissue.

    Alternative splice isoforms for HAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAP1 Gene

Proteomics data for HAP1 Gene at MOPED

Post-translational modifications for HAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for HAP1 Gene

Domains & Families for HAP1 Gene

Protein Domains for HAP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54257

UniProtKB/Swiss-Prot:

HAP1_HUMAN :
  • Contains 1 HAP1 N-terminal domain.
Domain:
  • Contains 1 HAP1 N-terminal domain.
genes like me logo Genes that share domains with HAP1: view

No data available for Gene Families for HAP1 Gene

Function for HAP1 Gene

Molecular function for HAP1 Gene

GENATLAS Biochemistry:
Huntingtin associated protein 1,with increased affinity for mutant huntingtin,predominantly expressed in the brain,present during early embryogenesis and likely to play a role in neural development
UniProtKB/Swiss-Prot 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 in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to faciltate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca(2+) release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).
genes like me logo Genes that share phenotypes with HAP1: view

Animal Models for HAP1 Gene

MGI Knock Outs for HAP1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HAP1 Gene

Localization for HAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAP1 Gene

Cytoplasm. Cell projection, axon. Cytoplasm, cytoskeleton. Lysosome. Endoplasmic reticulum. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Mitochondrion. Nucleus. Cytoplasmic vesicle, autophagosome. Note=Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAP1 Gene COMPARTMENTS Subcellular localization image for HAP1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
cytosol 4
nucleus 4
endoplasmic reticulum 3
lysosome 3
vacuole 3
peroxisome 2
endosome 1

Gene Ontology (GO) - Cellular Components for HAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005764 lysosome IEA --
GO:0016234 inclusion body IDA 21386698
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with HAP1: view

Pathways & Interactions for HAP1 Gene

genes like me logo Genes that share pathways with HAP1: view

Pathways by source for HAP1 Gene

2 KEGG pathways for HAP1 Gene
1 Qiagen pathway for HAP1 Gene

Gene Ontology (GO) - Biological Process for HAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0007268 synaptic transmission TAS 9361024
GO:0007420 brain development NAS 7477378
GO:0008090 retrograde axonal transport ISS --
GO:0008104 protein localization IMP 18922795
genes like me logo Genes that share ontologies with HAP1: view

No data available for SIGNOR curated interactions for HAP1 Gene

Drugs & Compounds for HAP1 Gene

(1) Drugs for HAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HAP1: view

Transcripts for HAP1 Gene

Unigene Clusters for HAP1 Gene

Huntingtin-associated protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HAP1 Gene

No ASD Table

Relevant External Links for HAP1 Gene

GeneLoc Exon Structure for
HAP1
ECgene alternative splicing isoforms for
HAP1

Expression for HAP1 Gene

mRNA expression in normal human tissues for HAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HAP1 Gene

This gene is overexpressed in Brain - Hypothalamus (x9.6).

Protein differential expression in normal tissues from HIPED for HAP1 Gene

This gene is overexpressed in Heart (33.1), Adipocyte (16.2), Pancreas (13.4), and Platelet (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HAP1 Gene



SOURCE GeneReport for Unigene cluster for HAP1 Gene Hs.158300

mRNA Expression by UniProt/SwissProt for HAP1 Gene

P54257-HAP1_HUMAN
Tissue specificity: Predominantly expressed in brain. Selectively expressed in neurons.
genes like me logo Genes that share expression patterns with HAP1: view

Protein tissue co-expression partners for HAP1 Gene

- Elite partner

Primer Products

Orthologs for HAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HAP1 35
  • 78.56 (n)
  • 68.41 (a)
dog
(Canis familiaris)
Mammalia HAP1 35
  • 78.28 (n)
  • 67.67 (a)
HAP1 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hap1 35
  • 74.89 (n)
  • 68.74 (a)
Hap1 16
Hap1 36
  • 53 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HAP1 35
  • 98.32 (n)
  • 97.07 (a)
HAP1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hap1 35
  • 76.03 (n)
  • 68.61 (a)
oppossum
(Monodelphis domestica)
Mammalia HAP1 36
  • 25 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAP1 36
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves HAP1 36
  • 16 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAP1 36
  • 21 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii HAP1 36
  • 18 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta milt 36
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T27A3.1 36
  • 9 (a)
OneToMany
Species with no ortholog for HAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HAP1 Gene

ENSEMBL:
Gene Tree for HAP1 (if available)
TreeFam:
Gene Tree for HAP1 (if available)

Paralogs for HAP1 Gene

Paralogs for HAP1 Gene

genes like me logo Genes that share paralogs with HAP1: view

Variants for HAP1 Gene

Sequence variations from dbSNP and Humsavar for HAP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs4796604 - 41,734,624(+) ACCTC(C/T)TCGGG reference, missense
rs4796603 - 41,734,463(+) CTGGG(A/T)TCCAG reference, missense
rs4796693 - 41,728,331(+) CCTCC(A/G)CTGGG reference, missense
rs11867808 - 41,727,420(+) CTCCC(A/G)CAGGT intron-variant
rs8075017 -, - 41,725,037(+) GGCAC(A/C/G)AACTC reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for HAP1 Gene

Variant ID Type Subtype PubMed ID
dgv961e1 CNV Complex 17122850
dgv962e1 CNV Complex 17122850
esv1060250 CNV Insertion 17803354

Variation tolerance for HAP1 Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.40; 94.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAP1 Gene

Human Gene Mutation Database (HGMD)
HAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAP1 Gene

Disorders for HAP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HAP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
spinocerebellar ataxia 17
  • spinocerebellar ataxia type 17
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HAP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HAP1

Genetic Association Database (GAD)
HAP1
Human Genome Epidemiology (HuGE) Navigator
HAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAP1
genes like me logo Genes that share disorders with HAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HAP1 Gene

Publications for HAP1 Gene

  1. A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. (PMID: 9668110) Li S.-H. … Li X.-J. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. A huntingtin-associated protein enriched in brain with implications for pathology. (PMID: 7477378) Li X.-J. … Ross C.A. (Nature 1995) 2 3 23
  3. Huntingtin associated protein 1 and its functions. (PMID: 19262167) Wu L.L. … Zhou X.F. (Cell Adh Migr 2009) 3 23
  4. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. (PMID: 18192679) Metzger S. … Riess O. (Hum. Mol. Genet. 2008) 3 23
  5. Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. (PMID: 10974549) Nasir J. … Hayden M.R. (Gene 2000) 3 23

Products for HAP1 Gene

Sources for HAP1 Gene

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