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 k... See more...

Aliases for HAP1 Gene

Aliases for HAP1 Gene

  • Huntingtin Associated Protein 1 2 3 5
  • Huntingtin-Associated Protein 1 2 3 4
  • Neuroan 1 2 3 4
  • HHLP1 2 3
  • HAP-1 3 4
  • HAP2 3 4
  • HIP5 2 3
  • HLP 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Huntingtin-Associated Protein 2 3
  • HAP1 5
  • HLP1 4

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 Parkinson disease and fMLP Pathway. Gene Ontology (GO) annotations related to this gene include ion channel binding and brain-derived neurotrophic factor binding. An important paralog of this gene is TRAK1.

UniProtKB/Swiss-Prot Summary 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 facilitate 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).

Additional gene information for HAP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HAP1 Gene

Genomics for HAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J041737 Promoter/Enhancer 1.7 VISTA EPDnew ENCODE CraniofacialAtlas 617.9 -4.7 -4729 3.7 ZNF221 HNRNPL GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3 KDM1A ZNF692 HAP1 JUP GAST P3H4 FKBP10 KLHL11 KAT2A HSALNG0116457
GH17J041733 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 625.2 +0.1 146 1.8 ATF7 PRDM10 ZNF629 RBFOX2 POLR2A PATZ1 REST ZNF501 EZH2 ZNF600 HAP1 ENSG00000267758 RETREG3 STAT5A ENSG00000266962 ZNF385C RF00017-2379 RN7SL399P lnc-JUP-2 GAST
GH17J041736 Enhancer 0.2 Ensembl 600.7 -1.9 -1855 0.2 HAP1 HSALNG0116457 JUP
GH17J041687 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.1 +44.2 44247 6.1 CEBPG SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 EIF1 lnc-HAP1-1 lnc-GAST-2 ENSG00000267758 ENSG00000259623 CNTNAP1 HSD17B1 NT5C3B NAGLU KAT2A
GH17J041695 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.3 +37.7 37745 2.6 CTCF PRDM10 REST TFE3 IKZF1 JUND FOXA1 PRDM1 ZNF143 ZNF24 HAP1 RN7SL399P FKBP10 P3H4 KLHL10 NT5C3B KLHL11 ZNF385C EIF1 lnc-GAST-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HAP1

Top Transcription factor binding sites by QIAGEN in the HAP1 gene promoter:
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for HAP1 Gene

Genomic Locations for HAP1 Gene
chr17:41,717,739-41,734,646
(GRCh38/hg38)
Size:
16,908 bases
Orientation:
Minus strand
chr17:39,873,994-39,890,898
(GRCh37/hg19)
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

Post-translational modifications for HAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HAP1 Gene

Domains & Families for HAP1 Gene

Gene Families for HAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HAP1 Gene

InterPro:
Blocks:
  • HAP1, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for HAP1 Gene

GenScript: Design optimal peptide antigens:
  • Neuroan 1 (HAP1_HUMAN)
genes like me logo Genes that share domains with HAP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HAP1 Gene

Function for HAP1 Gene

Molecular function for HAP1 Gene

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 facilitate 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).
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

Phenotypes From GWAS Catalog for HAP1 Gene

Gene Ontology (GO) - Molecular Function for HAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 7477378
GO:0017022 myosin binding IBA 21873635
GO:0044325 ion channel binding ISS --
GO:0048403 brain-derived neurotrophic factor binding ISS --
genes like me logo Genes that share ontologies with HAP1: view
genes like me logo Genes that share phenotypes with HAP1: view

Animal Models for HAP1 Gene

MGI Knock Outs for HAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAP1

Clone Products

  • Addgene plasmids for HAP1

No data available for Enzyme Numbers (IUBMB) , 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. Cell junction, synapse, presynapse. Cytoplasm, cytoskeleton. Cell projection, dendritic spine. Cell projection, dendrite. Lysosome. Endoplasmic reticulum. Mitochondrion. Nucleus. Cytoplasmic vesicle, autophagosome. Early endosome. Cell projection, growth cone. Cell projection, neuron projection. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. 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. {ECO:0000250 UniProtKB:P54256}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
mitochondrion 4
nucleus 4
endoplasmic reticulum 4
endosome 4
lysosome 4
peroxisome 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with HAP1: view

Pathways & Interactions for HAP1 Gene

PathCards logo

SuperPathways for HAP1 Gene

SuperPathway Contained pathways
1 GABAergic synapse
2 Parkinson disease
3 fMLP Pathway
.31
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
  • Huntington's Disease Pathway

SIGNOR curated interactions for HAP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for HAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IBA 21873635
GO:0006887 exocytosis IEA --
GO:0006914 autophagy IEA --
GO:0007268 chemical synaptic transmission TAS 9361024
GO:0007420 brain development NAS 7477378
genes like me logo Genes that share ontologies with HAP1: view

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

mRNA/cDNA for HAP1 Gene

8 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HAP1

Clone Products

  • Addgene plasmids for HAP1

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

No ASD Table

Relevant External Links for HAP1 Gene

GeneLoc Exon Structure for
HAP1

Expression for HAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for HAP1 Gene



Protein tissue co-expression partners for HAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HAP1

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.

Evidence on tissue expression from TISSUES for HAP1 Gene

  • Nervous system(4.9)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with HAP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HAP1 Gene

Orthologs for HAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HAP1 30 31
  • 98.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HAP1 30
  • 78.56 (n)
Dog
(Canis familiaris)
Mammalia HAP1 30 31
  • 78.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hap1 30
  • 76.03 (n)
Mouse
(Mus musculus)
Mammalia Hap1 30 17 31
  • 74.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HAP1 31
  • 36 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HAP1 31
  • 25 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HAP1 31
  • 16 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HAP1 31
  • 21 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii HAP1 31
  • 18 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta milt 31
  • 7 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T27A3.1 31
  • 9 (a)
OneToMany
Species where no ortholog for HAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HAP1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HAP1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
730350 Likely Benign: not provided 41,734,439(-) T/C MISSENSE_VARIANT
771767 Benign: not provided 41,725,075(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
777178 Benign: not provided 41,734,561(-) C/T MISSENSE_VARIANT
781300 Benign: not provided 41,724,751(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
783782 Likely Benign: not provided 41,734,613(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HAP1 Gene

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

Variant ID Type Subtype PubMed ID
esv1060250 CNV insertion 17803354
esv2758690 CNV gain+loss 17122850
nsv1109075 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159

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)

Additional Variant Information for HAP1 Gene

Human Gene Mutation Database (HGMD)
HAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for HAP1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search HAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. (PMID: 18192679) Metzger S … Riess O (Human molecular genetics 2008) 3 4 23 41
  2. A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. (PMID: 9668110) Li SH … Li XJ (The Journal of biological chemistry 1998) 2 3 4 23
  3. A huntingtin-associated protein enriched in brain with implications for pathology. (PMID: 7477378) Li XJ … Ross CA (Nature 1995) 2 3 4 23
  4. Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. (PMID: 10974549) Nasir J … Hayden MR (Gene 2000) 3 4 23
  5. The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human. (PMID: 9742138) Gutekunst CA … Hersch SM (The Journal of neuroscience : the official journal of the Society for Neuroscience 1998) 3 4 23

Products for HAP1 Gene

  • Signalway ELISA kits for HAP1

Sources for HAP1 Gene