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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF-beta and TNFSF13B/VEGF-A Axis.
Title: HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF-β and TNFSF13B/VEGF-A Axis.
No significant correlation between Hook1 expression and outcome in thyroid carcinoma.
Title: Clinicopathological and prognostic significance of SHP2 and Hook1 expression in patients with thyroid carcinoma.
unreported mutation in HOOK1 gene was identified, which might be responsible to some patients with decapitated and decaudated spermatozoa (DDS) syndrome. Further studies need to uncover the molecular mechanism of spermiogenesis for genomic therapy.
Title: Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome.
Hook1 knockdown promoted epithelial-mesenchymal transition and attenuated the sensitivity of hepatocellular carcinoma cells to doxorubicin. In summary, our results indicate that downregulation of Hook1 plays a pivotal role in hepatocellular carcinoma progression via epithelial-mesenchymal transition. Hook1 may be used as a novel marker and therapeutic molecular target in hepatocellular carcinoma
Title: Hook1 inhibits malignancy and epithelial-mesenchymal transition in hepatocellular carcinoma.
Single-molecule motility assays using total internal reflection fluorescence microscopy indicate that both Hook1 and Hook3 effectively activate cytoplasmic dynein, inducing longer run lengths and higher velocities than the previously characterized dynein activator bicaudal D2 (BICD2).
Title: Hook Adaptors Induce Unidirectional Processive Motility by Enhancing the Dynein-Dynactin Interaction.
SHP2 positively regulates TGFbeta1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.
Title: SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.
Hook1, a microtubule- and cargo-tethering protein, recognized the cytoplasmic tail of CD147 to help sort it and CD98 into Rab22a-dependent tubules associated with recycling.
Title: Microtubule-dependent endosomal sorting of clathrin-independent cargo by Hook1.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These data suggest that the FTS/Hook/FHIP complex functions to promote vesicle trafficking and/or fusion via the homotypic vacuolar protein sorting complex.
Title: An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex.
novel interactions between the microtubule-binding Hook1 and the large family of Rab GTPases also suggest a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking
Title: Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3350 (e-PCR)
- UniSTS:79883

SHGC-2679 (e-PCR)
- UniSTS:35087

D1S3574 (e-PCR)
- UniSTS:16936

SHGC-74905 (e-PCR)
- UniSTS:1877

SHGC-81097 (e-PCR)
- UniSTS:103325

AL009539 (e-PCR)
- UniSTS:48826

D1S3556 (e-PCR)
- UniSTS:57581

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

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Preferred Names: protein Hook homolog 1

Names: h-hook1; hHK1; hook homolog 1

NCBI Reference Sequences (RefSeq)

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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)

NM_015888.6 → NP_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:15 → 720

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

59814949..59876322

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000509959.1, ENST00000685567.1
XM_047422230.1 → XP_047278186.1 protein Hook homolog 1 isoform X2
XM_006710676.2 → XP_006710739.1 protein Hook homolog 1 isoform X2

UniProtKB/TrEMBL

A0A8I5KQJ5

Conserved Domains (3) summary

pfam05622
Location:15 → 534

HOOK; HOOK protein

pfam11221
Location:175 → 210

Med21; Subunit 21 of Mediator complex

cl17182
Location:486 → 533

NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
XM_017001424.2 → XP_016856913.1 protein Hook homolog 1 isoform X4
XM_047422225.1 → XP_047278181.1 protein Hook homolog 1 isoform X1
XM_024447520.2 → XP_024303288.1 protein Hook homolog 1 isoform X1

UniProtKB/TrEMBL

A0A8I5KRQ9

Related

ENSP00000509189.1, ENST00000687049.1

Conserved Domains (1) summary

pfam05622
Location:1 → 678

HOOK; HOOK protein