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HAP1 huntingtin associated protein 1 [ Homo sapiens (human) ]

Gene ID: 9001, updated on 28-Oct-2024

Summary

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Official Symbol
HAP1provided by HGNC
Official Full Name
huntingtin associated protein 1provided by HGNC
Primary source
HGNC:HGNC:4812
See related
Ensembl:ENSG00000173805 MIM:600947; AllianceGenome:HGNC:4812
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLP; HAP2; HIP5; hHLP1
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 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]
Expression
Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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See HAP1 in Genome Data Viewer
Location:
17q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41717739..41734646, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42574186..42591171, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39873991..39890898, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39844838-39845746 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39845747-39846655 Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39861304-39862096 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:39864421-39864948 Neighboring gene Sharpr-MPRA regulatory region 1334 Neighboring gene RNA, 5S ribosomal pseudogene 442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39881045-39881584 Neighboring gene gastrin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39889784-39890326 Neighboring gene RNA, 7SL, cytoplasmic 399, pseudogene Neighboring gene junction plakoglobin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927459-39927963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39927964-39928467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39932003-39932506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:39942255-39942467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:39947785-39948448 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956106-39956612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39956613-39957119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8500 Neighboring gene prolyl 3-hydroxylase family member 4 (inactive)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Huntingtin-associated protein 1: a potential biomarker of breast cancer. Zhu L, et al. Oncol Rep, 2013 May. PMID 23440330
  2. Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer. Qu YM, et al. Mol Biol Rep, 2023 Feb. PMID 36509909
  3. Efficient and crucial quality control of HAP1 cell ploidy status. Beigl TB, et al. Biol Open, 2020 Nov 12. PMID 33184093, Free PMC Article
  4. Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis. Wang W, et al. Tumour Biol, 2014 Nov. PMID 25081373
  5. Sleeping Beauty-mediated down-regulation of huntingtin expression by RNA interference. Chen ZJ, et al. Biochem Biophys Res Commun, 2005 Apr 8. PMID 15737634

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer.
    Title: Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer.
  2. Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
    Title: Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
  3. Efficient and crucial quality control of HAP1 cell ploidy status.
    Title: Efficient and crucial quality control of HAP1 cell ploidy status.
  4. Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
    Title: Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
  5. The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
    Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
  6. Acute lymphoblastic leukemia patient leukemic cells with reduced HAP1 levels exhibit resistance to l-asparaginase.
    Title: HAP1 loss confers l-asparaginase resistance in ALL by downregulating the calpain-1-Bid-caspase-3/12 pathway.
  7. HAP1 is differentially expressed in the human gastrointestinal tract and is down-regulated in pancreatic adenocarcinoma.
    Title: Expression and Localization of Huntingtin-Associated Protein 1 (HAP1) in the Human Digestive System.
  8. HAP1 is expressed in endocrine cells of the human gut.
    Title: Huntingtin-associated protein 1: Eutherian adaptation from a TRAK-like protein, conserved gene promoter elements, and localization in the human intestine.
  9. data fully support that HAP1 is a GKAP, anchoring specifically to the cGMP-dependent protein kinase isoform Ibeta, and provide further evidence that also PKG spatiotemporal signaling is largely controlled by anchoring proteins
    Title: Huntingtin-associated protein 1 (HAP1) is a cGMP-dependent kinase anchoring protein (GKAP) specific for the cGMP-dependent protein kinase Iβ isoform.
  10. The -141 T > G polymorphism, but not the 1349 T > G polymorphism, may have protective effects for lung cancer.
    Title: Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of huntingtin-associated protein 1 (HAP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables brain-derived neurotrophic factor binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transmembrane transporter binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in anterograde axonal transport of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in hypothalamus cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrion distribution IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of amyloid-beta formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotrophin TRK receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotrophin TRK receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neurotrophin production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of non-motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of organelle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
located_in inclusion body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
huntingtin-associated protein 1
Names
HAP-1
epididymis secretory sperm binding protein
huntingtin-associated protein 2
neuroan 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001079870.1 → NP_001073339.1  huntingtin-associated protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The encoded isoform (3) is shorter than isoform 2.
    Source sequence(s)
    AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
    Consensus CDS
    CCDS42338.1
    UniProtKB/TrEMBL
    A0A384NYX4
    Related
    ENSP00000343170.5, ENST00000341193.9
    Conserved Domains (2) summary
    pfam04849
    Location:109 → 442
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:309 → 401
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  2. NM_001079871.1 → NP_001073340.1  huntingtin-associated protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2, and encodes an isoform (4) that is shorter than isoform 2.
    Source sequence(s)
    AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
    Consensus CDS
    CCDS42339.1
    UniProtKB/TrEMBL
    A0A384NYX4
    Related
    ENSP00000377513.2, ENST00000393939.6
    Conserved Domains (2) summary
    pfam04849
    Location:109 → 434
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:301 → 393
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.

  3. NM_001367459.1 → NP_001354388.1  huntingtin-associated protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC109319
    UniProtKB/TrEMBL
    A0A384NYX4

  4. NM_001367460.1 → NP_001354389.1  huntingtin-associated protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC109319
    UniProtKB/Swiss-Prot
    A8MQB5, O75358, P54257, Q59GK4, Q9H4G3, Q9HA98, Q9NY90

  5. NM_001367461.1 → NP_001354390.1  huntingtin-associated protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC109319
    UniProtKB/TrEMBL
    A0A384NYX4

  6. NM_001367462.1 → NP_001354391.1  huntingtin-associated protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC109319

  7. NM_177977.3 → NP_817084.2  huntingtin-associated protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AC109319, AF040723, AK022007, CB128405, DA203084, DA231862, DA242226
    Consensus CDS
    CCDS11406.1
    UniProtKB/TrEMBL
    A0A384NYX4
    Related
    ENSP00000334002.4, ENST00000347901.9
    Conserved Domains (2) summary
    pfam04849
    Location:109 → 439
    HAP1_N; HAP1 N-terminal conserved region
    pfam15908
    Location:302 → 426
    HMMR_C; Hyaluronan mediated motility receptor C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41717739..41734646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    42574186..42591171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003949.3: Suppressed sequence

    Description
    NM_003949.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54257.3 GenPept UniProtKB/Swiss-Prot:P54257

Gene LinkOut

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Chemical Information
Molecular Biology Databases
Research Materials
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