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

    Gene ID: 9001, updated on 27-Nov-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001079870.1NP_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/TrEMBL
      A0A384NYX4
      Related
      ENSP00000343170.5, ENST00000341193.9
      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/TrEMBL
      A0A384NYX4
      Related
      ENSP00000377513.2, ENST00000393939.6
      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_001367459.1NP_001354388.1  huntingtin-associated protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC109319
      UniProtKB/TrEMBL
      A0A384NYX4
    4. NM_001367460.1NP_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_001367461.1NP_001354390.1  huntingtin-associated protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC109319
      UniProtKB/TrEMBL
      A0A384NYX4
    6. NM_001367462.1NP_001354391.1  huntingtin-associated protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC109319
    7. NM_177977.3NP_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:109439
      HAP1_N; HAP1 N-terminal conserved region
      pfam15908
      Location:302426
      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.