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 traffickin... See more...

Aliases for HOOK1 Gene

Aliases for HOOK1 Gene

  • Hook Microtubule Tethering Protein 1 2 3 5
  • Protein Hook Homolog 1 3 4
  • H-Hook1 3 4
  • HHK1 3 4
  • Hook Homolog 1 (Drosophila) 2
  • Hook Homolog 1 3
  • HK1 3

External Ids for HOOK1 Gene

Previous GeneCards Identifiers for HOOK1 Gene

  • GC01P060206
  • GC01P059203
  • GC01P059638
  • GC01P059650
  • GC01P059992
  • GC01P060280
  • GC01P058391

Summaries for HOOK1 Gene

Entrez Gene Summary for HOOK1 Gene

  • 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]

GeneCards Summary for HOOK1 Gene

HOOK1 (Hook Microtubule Tethering Protein 1) is a Protein Coding gene. Diseases associated with HOOK1 include Water-Clear Cell Adenoma and Clear Cell Adenoma. Gene Ontology (GO) annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is HOOK3.

UniProtKB/Swiss-Prot Summary for HOOK1 Gene

  • Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622).

Gene Wiki entry for HOOK1 Gene

Additional gene information for HOOK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOOK1 Gene

Genomics for HOOK1 Gene

GeneHancer (GH) Regulatory Elements for HOOK1 Gene

Promoters and enhancers for HOOK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J059814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 508.3 +0.4 415 2.8 ZNF217 EP300 POLR2G SP1 PHF8 ZNF639 ZNF10 ZBTB10 POLR2A FOS HOOK1 LOC105378758
GH01J059856 Enhancer 1 Ensembl ENCODE 17.7 +42.4 42417 2.2 POLR2G KDM6A TCF7 TGIF2 TEAD1 TBX3 FOXA2 TBP TFDP1 SAP130 HOOK1 piR-61101-032 lnc-HOOK1-4
GH01J059879 Enhancer 0.8 Ensembl ENCODE 15.3 +65.5 65467 1.2 CTCF SMC3 RAD21 YY1 FOS ZNF654 RXRA GATA2 JUN HNF4A HOOK1 lnc-HOOK1-4 piR-61101-032
GH01J059758 Enhancer 1 ENCODE CraniofacialAtlas 10.7 -55.3 -55255 1.3 CTCF TCF12 MYC USF1 REST TGIF2 RAD21 TRIM22 SMC3 MXI1 HOOK1 lnc-HOOK1-1 ENSG00000226883 MIR4711 FGGY
GH01J059750 Enhancer 0.8 ENCODE dbSUPER 9.9 -64.0 -63962 1.2 USF1 JUND FOS FOSL1 MAFK STAT3 NR2F1 BHLHE40 EGR1 USF2 HOOK1 MIR4711 lnc-HOOK1-1 FGGY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOOK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOOK1

Top Transcription factor binding sites by QIAGEN in the HOOK1 gene promoter:
  • AP-4
  • ATF6
  • CBF(2)
  • Egr-2
  • Pax-2
  • Pax-2a
  • TBP
  • TFIID

Genomic Locations for HOOK1 Gene

Genomic Locations for HOOK1 Gene
chr1:59,814,786-59,876,378
(GRCh38/hg38)
Size:
61,593 bases
Orientation:
Plus strand
chr1:60,280,458-60,342,050
(GRCh37/hg19)
Size:
61,593 bases
Orientation:
Plus strand

Genomic View for HOOK1 Gene

Genes around HOOK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOOK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOOK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOOK1 Gene

Proteins for HOOK1 Gene

  • Protein details for HOOK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJC3-HOOK1_HUMAN
    Recommended name:
    Protein Hook homolog 1
    Protein Accession:
    Q9UJC3
    Secondary Accessions:
    • A8K8E9
    • A8MU44
    • B4DX15
    • O60561
    • Q5TG44

    Protein attributes for HOOK1 Gene

    Size:
    728 amino acids
    Molecular mass:
    84648 Da
    Quaternary structure:
    • Self-associates (PubMed:18799622). Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FAM160A2, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3 (PubMed:18799622). May interact directly with AKTIP/FTS, HOOK2 and HOOK3 (PubMed:18799622). Associates with several subunits of the homotypic vesicular sorting complex (the HOPS complex) including VPS16, VPS18, VPS39 and VPS41; these interactions may be indirect (PubMed:18799622). Interacts with CCDC181 (By similarity). Interacts (via coiled-coil region) with RIMBP3 (via C-terminus) (By similarity). Interacts with LRGUK (via guanylate kinase-like domain) (By similarity). Interacts with microtubules (PubMed:11238449).

    Alternative splice isoforms for HOOK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOOK1 Gene

Post-translational modifications for HOOK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOOK1 Gene

No data available for DME Specific Peptides for HOOK1 Gene

Domains & Families for HOOK1 Gene

Gene Families for HOOK1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HOOK1 Gene

Blocks:
  • Calponin-like actin-binding
  • HOOK
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HOOK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53232, highly similar to Hook homolog 1 (A8MU44_HUMAN)
  • Protein Hook homolog 1 (HOOK1_HUMAN)
  • HOOK1 protein (Q32Q39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJC3

UniProtKB/Swiss-Prot:

HOOK1_HUMAN :
  • Belongs to the hook family.
Family:
  • Belongs to the hook family.
genes like me logo Genes that share domains with HOOK1: view

Function for HOOK1 Gene

Molecular function for HOOK1 Gene

UniProtKB/Swiss-Prot Function:
Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622).

Phenotypes From GWAS Catalog for HOOK1 Gene

Gene Ontology (GO) - Molecular Function for HOOK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI,IEA 15471887
GO:0008017 microtubule binding IEA,IBA 21873635
GO:0042802 identical protein binding IPI 18799622
GO:0051959 dynein light intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with HOOK1: view
genes like me logo Genes that share phenotypes with HOOK1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOOK1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HOOK1 Gene

Localization for HOOK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOOK1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Localizes to punctate cytoplasmic foci which do not appear to overlap with early or late endosomes, the endoplasmic reticulum, multivesicular bodies (MVBs), lysosomes, or mitochondria (By similarity). Often found in close association with microtubules (By similarity). Does not associate with the Golgi complex. During spermiogenesis, it localizes to the manchette in spermatids from steps 8-10. It is also present between the microtubule manchette and the nucleus. During manchette elongation, it is preferentially localized to the nuclear ring of the manchette, whereas the strong localization to the manchette decreases. In more mature spermatids, while the manchette migrates posteriorly, it localizes to punctuates spots. At later stages of spermatid differentiation, the punctuate expression pattern is found at both the attachment site and the proximal end of the elongated manchette. In contrast, it is not present in mature spermatozoa (By similarity). {ECO:0000250 UniProtKB:Q8BIL5}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOOK1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 2
endosome 2
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HOOK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IBA 21873635
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with HOOK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOOK1 Gene

Pathways & Interactions for HOOK1 Gene

PathCards logo

SuperPathways for HOOK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOOK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IEA --
GO:0007032 endosome organization IMP 18799622
GO:0007040 lysosome organization IMP 18799622
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with HOOK1: view

No data available for Pathways by source and SIGNOR curated interactions for HOOK1 Gene

Drugs & Compounds for HOOK1 Gene

No Compound Related Data Available

Transcripts for HOOK1 Gene

mRNA/cDNA for HOOK1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOOK1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOOK1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4:

ExUns: 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:

Relevant External Links for HOOK1 Gene

GeneLoc Exon Structure for
HOOK1

Expression for HOOK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOOK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOOK1 Gene

This gene is overexpressed in Testis (x4.8).

Protein differential expression in normal tissues from HIPED for HOOK1 Gene

This gene is overexpressed in Cervix (21.4), Salivary gland (7.0), and Pancreas (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HOOK1 Gene



Protein tissue co-expression partners for HOOK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOOK1

SOURCE GeneReport for Unigene cluster for HOOK1 Gene:

Hs.378836

Evidence on tissue expression from TISSUES for HOOK1 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with HOOK1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOOK1 Gene

Orthologs for HOOK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOOK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOOK1 31 30
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HOOK1 31
  • 95 (a)
OneToOne
LOC785042 30
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia HOOK1 31 30
  • 93.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hook1 17 31 30
  • 87.11 (n)
rat
(Rattus norvegicus)
Mammalia Hook1 30
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HOOK1 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HOOK1 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOOK1 31 30
  • 77.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOOK1 31
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hook1 31 30
  • 63.45 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hk 31 32
  • 33 (a)
OneToMany
Species where no ortholog for HOOK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOOK1 Gene

ENSEMBL:
Gene Tree for HOOK1 (if available)
TreeFam:
Gene Tree for HOOK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOOK1: view image

Paralogs for HOOK1 Gene

Paralogs for HOOK1 Gene

(2) SIMAP similar genes for HOOK1 Gene using alignment to 4 proteins:

  • HOOK1_HUMAN
  • A8MU44_HUMAN
  • B1AK95_HUMAN
  • Q32Q39_HUMAN
genes like me logo Genes that share paralogs with HOOK1: view

Variants for HOOK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOOK1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
VAR_035709 A breast cancer sample p.Ser433Leu
rs1008809819 - p.Gly689Ser

Additional dbSNP identifiers (rs#s) for HOOK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HOOK1 Gene

Variant ID Type Subtype PubMed ID
esv3586193 CNV loss 21293372
nsv1012703 CNV gain 25217958
nsv477576 CNV novel sequence insertion 20440878
nsv819901 CNV loss 19587683

Variation tolerance for HOOK1 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOOK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOOK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOOK1 Gene

Disorders for HOOK1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HOOK1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search HOOK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HOOK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HOOK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOOK1 Gene

Publications for HOOK1 Gene

  1. An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex. (PMID: 18799622) Xu L … Harper JW (Molecular biology of the cell 2008) 3 4 23 54
  2. Genetic analysis of hook, a gene required for endocytic trafficking in drosophila. (PMID: 9927460) Krämer H … Phistry M (Genetics 1999) 2 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 54

Products for HOOK1 Gene

Sources for HOOK1 Gene