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

Gene ID: 9001, updated on 12-Apr-2014
Official Symbol
HAP1provided by HGNC
Official Full Name
huntingtin-associated protein 1provided by HGNC
Primary source
HGNC:4812
See related
Ensembl:ENSG00000173805; HPRD:02972; 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]
Location :
17q21.2-q21.3
Sequence :
Chromosome: 17; NC_000017.11 (41722639..41734646, complement)
See HAP1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene junction plakoglobin Neighboring gene leprecan-like 4 Neighboring gene FK506 binding protein 10, 65 kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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 Protein Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
brain development NAS
Non-traceable Author Statement
more info
PubMed 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
vesicle transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytoplasmic membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
huntingtin-associated protein 1
Names
huntingtin-associated protein 1
HAP-1
neuroan 1
huntingtin-associated protein 2

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, OTTHUMP00000164747, ENST00000341193, OTTHUMT00000257419
    Conserved Domains (2) summary
    pfam04849
    Location:106408
    Blast Score: 770
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:309401
    Blast Score: 88
    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
    Conserved Domains (2) summary
    pfam04849
    Location:106400
    Blast Score: 745
    HAP1_N; HAP1 N-terminal conserved region
    cl09930
    Location:301393
    Blast Score: 87
    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, OTTHUMP00000164746, ENST00000347901, OTTHUMT00000257418
    Conserved Domains (1) summary
    pfam04849
    Location:106425
    Blast Score: 816
    HAP1_N; HAP1 N-terminal conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38 Primary Assembly

    Range
    41722639..41734646, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    35641052..35653084, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    40114361..40126487, 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.

Supplemental Content

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