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    HOOK1 hook microtubule tethering protein 1 [ Homo sapiens (human) ]

    Gene ID: 51361, updated on 11-Apr-2024

    Summary

    Official Symbol
    HOOK1provided by HGNC
    Official Full Name
    hook microtubule tethering protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19884
    See related
    Ensembl:ENSG00000134709 MIM:607820; AllianceGenome:HGNC:19884
    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
    HK1
    Summary
    This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 15.7), colon (RPKM 10.0) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HOOK1 in Genome Data Viewer
    Location:
    1p32.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (59814949..59876322)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (59693392..59754772)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (60280621..60341994)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene FGGY carbohydrate kinase domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1111 Neighboring gene uncharacterized LOC105378758 Neighboring gene uncharacterized LOC101926944 Neighboring gene microRNA 4711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 943 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:60280925-60281488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:60380537-60381736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:60391793-60392328 Neighboring gene cytochrome P450 family 2 subfamily J member 2 Neighboring gene RNA, 7SL, cytoplasmic 475, pseudogene

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10642

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in manchette assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of FHF complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of HOPS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein Hook homolog 1
    Names
    h-hook1
    hHK1
    hook homolog 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_015888.6NP_056972.1  protein Hook homolog 1

      See identical proteins and their annotated locations for NP_056972.1

      Status: REVIEWED

      Source sequence(s)
      AC113175, AL035416
      Consensus CDS
      CCDS612.1
      UniProtKB/Swiss-Prot
      A8K8E9, A8MU44, B4DX15, O60561, Q5TG44, Q9UJC3
      UniProtKB/TrEMBL
      A0A8I5KRQ9
      Related
      ENSP00000360252.3, ENST00000371208.5
      Conserved Domains (1) summary
      pfam05622
      Location:15720
      HOOK; HOOK protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      59814949..59876322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422232.1XP_047278188.1  protein Hook homolog 1 isoform X3

      Related
      ENSP00000509959.1, ENST00000685567.1
    2. XM_047422230.1XP_047278186.1  protein Hook homolog 1 isoform X2

    3. XM_006710676.2XP_006710739.1  protein Hook homolog 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KQJ5
      Conserved Domains (3) summary
      pfam05622
      Location:15534
      HOOK; HOOK protein
      pfam11221
      Location:175210
      Med21; Subunit 21 of Mediator complex
      cl17182
      Location:486533
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    4. XM_017001424.2XP_016856913.1  protein Hook homolog 1 isoform X4

    5. XM_047422225.1XP_047278181.1  protein Hook homolog 1 isoform X1

    6. XM_024447520.2XP_024303288.1  protein Hook homolog 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KRQ9
      Related
      ENSP00000509189.1, ENST00000687049.1
      Conserved Domains (1) summary
      pfam05622
      Location:1678
      HOOK; HOOK protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      59693392..59754772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336928.1XP_054192903.1  protein Hook homolog 1 isoform X3

    2. XM_054336929.1XP_054192904.1  protein Hook homolog 1 isoform X3

    3. XM_054336926.1XP_054192901.1  protein Hook homolog 1 isoform X2

    4. XM_054336927.1XP_054192902.1  protein Hook homolog 1 isoform X2

    5. XM_054336930.1XP_054192905.1  protein Hook homolog 1 isoform X4

    6. XM_054336925.1XP_054192900.1  protein Hook homolog 1 isoform X1

    7. XM_054336924.1XP_054192899.1  protein Hook homolog 1 isoform X1