HOOK3 hook microtubule tethering protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HOOK3provided by HGNC
Official Full Name: hook microtubule tethering protein 3provided by HGNC
Primary source: HGNC:HGNC:23576
See related: Ensembl:ENSG00000168172 MIM:607825; AllianceGenome:HGNC:23576
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HK3
Summary: Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in thyroid (RPKM 6.6), fat (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (42896978..43030535)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (43165918..43299475)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (42752121..42885678)

Chromosome 8 - NC_000008.11 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?

Study demonstrates that PTPN21 activates KIF1C by binding to the stalk region. This function does not require catalytic activity of the phosphatase, and its N-terminal FERM domain alone is sufficient to stimulate the transport of KIF1C cargoes in cells as well as increasing the landing rate of KIF1C on microtubules in vitro. The cargo adapter Hook3 binds KIF1C in the same region and activates KIF1C in a similar way.
Title: PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport.
This work reveals the structural details of Hook3's interaction with dynein and offers insight into how cargo adaptors form processive dynein-dynactin motor complexes.
Title: Assembly and activation of dynein-dynactin by the cargo adaptor protein Hook3.
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.
results of our study identify HOOK3 as a strong candidate prognostic marker with a possible role in maintaining genomic integrity in prostate cancer, which may have potential for inclusion into clinical routine assays
Title: High-Level HOOK3 Expression Is an Independent Predictor of Poor Prognosis Associated with Genomic Instability in Prostate Cancer.
Results found that downregulation of Hook3 expression slows down endosomal transport and increases beta-amyloid production suggesting that Hook3 might play a critical role in pathogenic events exacerbating Alzheimer disease.
Title: Hook proteins: association with Alzheimer pathology and regulatory role of hook3 in amyloid beta generation.
Hook3 is recruited to pericentriolar satellites through interaction with pericentriolar material 1 protein PCM1.
Title: Hook3 interacts with PCM1 to regulate pericentriolar material assembly and the timing of neurogenesis.
A fusion product between exon 11 of HOOK3 and exon 12 of RET gene was identified by 5'RACE, and the presence of chimeric HOOK3-RET protein of 88 kDa was detected by western blot analysis with an anti-RET antibody.
Title: HOOK3-RET: a novel type of RET/PTC rearrangement in papillary thyroid carcinoma.
Salmonella SpiC targets the function of Hook3, a mammalian protein implicated in cellular trafficking.
Title: The Salmonella SpiC protein targets the mammalian Hook3 protein function to alter cellular trafficking.
Hook3 interacts with a cytoplasmic domain of scavenger receptor A
Title: The microtubule-binding protein Hook3 interacts with a cytoplasmic domain of scavenger receptor A.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

PMC156606P2 (e-PCR)
- UniSTS:271409

PMC156606P3 (e-PCR)
- UniSTS:271410

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH28425 (e-PCR)
- UniSTS:92250

RH79802 (e-PCR)
- UniSTS:88688

HOOK3__6582 (e-PCR)
- UniSTS:463986

L17877 (e-PCR)
- UniSTS:61334

RH102601 (e-PCR)
- UniSTS:96935

L18023 (e-PCR)
- UniSTS:79818

RH35928 (e-PCR)
- UniSTS:86235

GDB:631802 (e-PCR)
- UniSTS:158429

D3S1673 (e-PCR)
- UniSTS:148450

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynactin binding	IDA Inferred from Direct Assay more info	PubMed
enables dynein intermediate chain binding	IDA Inferred from Direct Assay more info	PubMed
enables dynein light chain binding	IPI Inferred from Physical Interaction more info	PubMed
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 microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
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 interkinetic nuclear migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule anchoring at centrosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in protein localization to centrosome	ISS Inferred from Sequence or Structural Similarity 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
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in pericentriolar material	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein Hook homolog 3

Names: h-hook3; hHK3; hook homolog 3

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_032410.4 → NP_115786.1 protein Hook homolog 3

Status: VALIDATED

Source sequence(s)

AC110275, BC048304, BC056146, BM716064

Consensus CDS

CCDS6139.1

UniProtKB/Swiss-Prot

D3DSY8, Q86VS8, Q8NBH0, Q9BY13

UniProtKB/TrEMBL

H0YDM4

Related

ENSP00000305699.3, ENST00000307602.9

Conserved Domains (2) summary

pfam05622
Location:184 → 709

HOOK; HOOK protein

cd22226
Location:8 → 160

HkD_Hook3; Hook domain found in protein Hook 3 (Hook3) and similar proteins