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

Gene ID: 9001, updated on 8-Oct-2018

Summary

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; Vega:OTTHUMG00000133498
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

Genomic context

See HAP1 in Genome Data Viewer
Location:
17q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (41722639..41734646, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39878891..39890898, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 442 Neighboring gene gastrin Neighboring gene RNA, 7SL, cytoplasmic 399, pseudogene Neighboring gene junction plakoglobin Neighboring gene prolyl 3-hydroxylase family member 4 (non-enzymatic) Neighboring gene FKBP prolyl isomerase 10

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001079870.1NP_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/Swiss-Prot
    P54257
    Related
    ENSP00000343170.5, OTTHUMP00000164747, ENST00000341193.9, OTTHUMT00000257419
    Conserved Domains (2) summary
    pfam04849
    Location:109442
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:309401
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  2. NM_001079871.1NP_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/Swiss-Prot
    P54257
    Related
    ENSP00000377513.2, OTTHUMP00000232821, ENST00000393939.6, OTTHUMT00000389618
    Conserved Domains (2) summary
    pfam04849
    Location:109434
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:301393
    RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
  3. NM_177977.2NP_817084.2  huntingtin-associated protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
    Consensus CDS
    CCDS11406.1
    UniProtKB/Swiss-Prot
    P54257
    Related
    ENSP00000334002.4, OTTHUMP00000164746, ENST00000347901.8, OTTHUMT00000257418
    Conserved Domains (2) summary
    pfam04849
    Location:109439
    HAP1_N; HAP1 N-terminal conserved region
    pfam15908
    Location:302426
    HMMR_C; Hyaluronan mediated motility receptor C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    41722639..41734646 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.
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