Homo sapiens Protein: NME8 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-12787.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | NME8 | ||||||||||||||||||
Protein Name | thioredoxin domain containing 3 (spermatozoa) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000199447 | ||||||||||||||||||
InnateDB Gene | IDBG-12785 (NME8) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. | ||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:11737268}. | ||||||||||||||||||
Disease Associations | Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:17360648}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Testis-specific. Expressed only in primary spermatocytes and round spermatids. {ECO:0000269PubMed:11737268}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001564
Nucleoside diphosphate kinase IPR012336 Thioredoxin-like fold IPR013766 Thioredoxin domain |
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PFAM |
PF00334
PF13098 PF13192 PF13462 PF13905 PF00085 |
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PRINTS |
PR01243
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PIRSF | |||||||||||||||||||
SMART |
SM00562
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q8N427 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q8N427 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 51314 | ||||||||||||||||||
UniGene | Hs.723454 | ||||||||||||||||||
RefSeq | NP_057700 | ||||||||||||||||||
HUGO | HGNC:16473 | ||||||||||||||||||
OMIM | 607421 | ||||||||||||||||||
CCDS | CCDS5452 | ||||||||||||||||||
HPRD | 16243 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC018634 AF202051 AF305596 BC036816 | ||||||||||||||||||
GenPept | AAF20909 AAH36816 AAN04258 | ||||||||||||||||||