Homo sapiens Protein: SPAG1
Summary
InnateDB Protein IDBP-30600.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPAG1
Protein Name sperm associated antigen 1
Synonyms CILD28; CT140; HSD-3.8; SP75; TPIS;
Species Homo sapiens
Ensembl Protein ENSP00000373450
InnateDB Gene IDBG-30594 (SPAG1)
Protein Structure
UniProt Annotation
Function May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity. {ECO:0000250, ECO:0000269PubMed:11517287, ECO:0000269PubMed:1299558}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:11517287, ECO:0000269PubMed:16983343}. Note=Colocalizes with tubulin.
Disease Associations Ciliary dyskinesia, primary, 28 (CILD28) [MIM:615505]: 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. Patients may 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue. {ECO:0000269PubMed:11517287, ECO:0000269PubMed:1299558, ECO:0000269PubMed:16983343, ECO:0000269PubMed:24055112}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0016787 hydrolase activity
Biological Process
GO:0007338 single fertilization
GO:0008152 metabolic process
GO:0070286 axonemal dynein complex assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0015630 microtubule cytoskeleton
Protein Structure and Domains
PDB ID
InterPro IPR001440 Tetratricopeptide TPR1
IPR013026 Tetratricopeptide repeat-containing domain
IPR013105 Tetratricopeptide TPR2
IPR019734 Tetratricopeptide repeat
PFAM PF00515
PF07719
PF13174
PF13176
PF13181
PRINTS
PIRSF
SMART SM00028
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q07617
PhosphoSite PhosphoSite-Q07617
TrEMBL
UniProt Splice Variant
Entrez Gene 6674
UniGene Hs.711834
RefSeq NP_003105
HUGO HGNC:11212
OMIM 603395
CCDS CCDS34930
HPRD 04548
IMGT
EMBL AC025647 AF311312 AK057482 BC055091 CH471060
GenPept AAG23967 AAH55091 BAG51920 EAW91800