HOOK1

HOOK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WIX
Identifiers
Aliases	HOOK1 , HK1, hook microtubule-tethering protein 1, hook microtubule tethering protein 1
External IDs	OMIM: 607820 MGI: 1925213 HomoloGene: 9289 GeneCards: HOOK1
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p32.1 Start 59,814,786 bp [1] End 59,876,322 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 C5|4 44.17 cM Start 95,855,477 bp [2] End 95,913,650 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm body of pancreas bronchial epithelial cell islet of Langerhans retinal pigment epithelium jejunal mucosa skin of abdomen palpebral conjunctiva Brodmann area 23 rectum Top expressed in spermatid lacrimal gland parotid gland retinal pigment epithelium ileum otolith organ utricle left colon spermatocyte islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein binding identical protein binding microtubule binding dynein light intermediate chain binding Cellular component HOPS complex cytoplasm microtubule cytoskeleton microtubule cytoskeleton FHF complex cytosol centrosome Biological process multicellular organism development protein transport cell differentiation lysosome organization early endosome to late endosome transport spermatogenesis endosome organization spermatid development endosome to lysosome transport cytoskeleton-dependent intracellular transport cytoplasmic microtubule organization Golgi organization manchette assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51361 77963 Ensembl ENSG00000134709 ENSMUSG00000028572 UniProt Q9UJC3 Q8BIL5 RefSeq (mRNA) NM_015888 NM_030014 RefSeq (protein) NP_056972 NP_084290 Location (UCSC) Chr 1: 59.81 – 59.88 Mb Chr 4: 95.86 – 95.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein Hook homolog 1 is a protein that in humans is encoded by the HOOK1 gene. ^{[5] [6]}

Function

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000134709 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028572 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kramer H, Phistry M (Mar 1999). "Genetic analysis of hook, a gene required for endocytic trafficking in drosophila". Genetics. 151 (2): 675–84. doi:10.1093/genetics/151.2.675. PMC   1460498 . PMID   9927460.
6. "Entrez Gene: HOOK1 hook homolog 1 (Drosophila)".

Further reading

• Walenta JH, Didier AJ, Liu X, Krämer H (2001). "The Golgi-Associated Hook3 Protein Is a Member of a Novel Family of Microtubule-Binding Proteins". J. Cell Biol. 152 (5): 923–34. doi:10.1083/jcb.152.5.923. PMC   2198811 . PMID   11238449.
• Mendoza-Lujambio I, Burfeind P, Dixkens C, et al. (2003). "The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse". Hum. Mol. Genet. 11 (14): 1647–58. CiteSeerX   10.1.1.490.653 . doi: 10.1093/hmg/11.14.1647 . PMID   12075009.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Luiro K, Yliannala K, Ahtiainen L, et al. (2005). "Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway". Hum. Mol. Genet. 13 (23): 3017–27. doi: 10.1093/hmg/ddh321 . PMID   15471887.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Weimer JM, Chattopadhyay S, Custer AW, Pearce DA (2005). "Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1". Biochem. Biophys. Res. Commun. 330 (4): 1176–81. doi:10.1016/j.bbrc.2005.03.103. PMID   15823567.
• Simpson F, Martin S, Evans TM, et al. (2005). "A novel hook-related protein family and the characterization of hook-related protein 1". Traffic. 6 (6): 442–58. doi: 10.1111/j.1600-0854.2005.00289.x . PMID   15882442. S2CID   25389776.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.