InnateDB Protein
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IDBP-164403.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Hook1
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Protein Name
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hook homolog 1 (Drosophila)
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Synonyms
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A930033L17Rik; azh;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000030306
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InnateDB Gene
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IDBG-164401 (Hook1)
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Protein Structure
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Function |
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) (By similarity). Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton. {ECO:0000250, ECO:0000269PubMed:12075009}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:12075009}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:12075009}. 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. 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. {ECO:0000250}.
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Disease Associations |
Note=Defects in Hook1 are the cause of the azh (abnormal spermatozoon head shape) mutant phenotype, which induces spermatozoa with highly abnormal head morphology that differs drastically from the compact and hook-shaped head of the normal sperm, leading to a strong decrease of fertility. {ECO:0000269PubMed:12075009}.
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Tissue Specificity |
Mainly expressed in testis. {ECO:0000269PubMed:12075009}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
12 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:1925213
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InterPro |
IPR008636
Hook-related protein family
IPR009053
Prefoldin
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PFAM |
PF05622
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8BIL5
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PhosphoSite |
PhosphoSite-Q8BIL5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
77963
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UniGene |
Mm.49994
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RefSeq |
NP_084290
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MGI ID |
1WIX
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MGI Symbol |
Hook1
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OMIM |
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CCDS |
CCDS18367
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HPRD |
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IMGT |
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EMBL |
AF487912
AK020924
AK043870
AK049897
BC030877
BC061688
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GenPept |
AAH30877
AAH61688
AAM74055
BAB32257
BAC31686
BAC33977
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