Homo sapiens Protein: NME8
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
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.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004550 nucleoside diphosphate kinase activity
GO:0005524 ATP binding
Biological Process
GO:0006165 nucleoside diphosphate phosphorylation
GO:0006183 GTP biosynthetic process
GO:0006228 UTP biosynthetic process
GO:0006241 CTP biosynthetic process
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0045454 cell redox homeostasis
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR001564 Nucleoside diphosphate kinase
IPR012336 Thioredoxin-like fold
IPR013766 Thioredoxin domain
PFAM PF00334
PF13098
PF13192
PF13462
PF13905
PF00085
PRINTS PR01243
PIRSF
SMART SM00562
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