UniProtKB - Q07617 (SPAG1_HUMAN)
Protein
Sperm-associated antigen 1
Gene
SPAG1
Organism
Homo sapiens (Human)
Status
Functioni
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.By similarity2 Publications
Miscellaneous
Antibodies against SPAG1 interfere with fertilization.By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 781 – 788 | GTPSequence analysis | 8 |
GO - Molecular functioni
- GTP binding Source: UniProtKB-KW
- hydrolase activity Source: UniProtKB-KW
GO - Biological processi
- axonemal dynein complex assembly Source: UniProtKB
- single fertilization Source: ProtInc
Keywordsi
Molecular function | Hydrolase |
Biological process | Fertilization |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q07617 |
SIGNORi | Q07617 |
Names & Taxonomyi
Protein namesi | Recommended name: Sperm-associated antigen 1Alternative name(s): HSD-3.8 Infertility-related sperm protein Spag-1 |
Gene namesi | Name:SPAG1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11212, SPAG1 |
MIMi | 603395, gene |
neXtProti | NX_Q07617 |
VEuPathDBi | HostDB:ENSG00000104450.12 |
Subcellular locationi
Other locations
- Cytoplasm 2 Publications
Note: Colocalizes with tubulin.
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 28 (CILD28)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 6674 |
GeneReviewsi | SPAG1 |
MalaCardsi | SPAG1 |
MIMi | 615505, phenotype |
OpenTargetsi | ENSG00000104450 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA36049 |
Miscellaneous databases
Pharosi | Q07617, Tbio |
Genetic variation databases
BioMutai | SPAG1 |
DMDMi | 223634718 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000106324 | 1 – 926 | Sperm-associated antigen 1Add BLAST | 926 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 347 | PhosphoserineCombined sources | 1 | |
Modified residuei | 354 | PhosphoserineBy similarity | 1 | |
Modified residuei | 423 | PhosphoserineCombined sources | 1 | |
Modified residuei | 791 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q07617 |
jPOSTi | Q07617 |
MassIVEi | Q07617 |
MaxQBi | Q07617 |
PaxDbi | Q07617 |
PeptideAtlasi | Q07617 |
PRIDEi | Q07617 |
ProteomicsDBi | 33786 58520 [Q07617-1] |
PTM databases
iPTMneti | Q07617 |
PhosphoSitePlusi | Q07617 |
Expressioni
Tissue specificityi
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.4 Publications
Gene expression databases
Bgeei | ENSG00000104450, Expressed in bronchial epithelial cell and 200 other tissues |
Genevisiblei | Q07617, HS |
Organism-specific databases
HPAi | ENSG00000104450, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 112556, 27 interactors |
ComplexPortali | CPX-6150, R2SP co-chaperone complex CPX-6152, R2SD co-chaperone complex |
CORUMi | Q07617 |
IntActi | Q07617, 9 interactors |
STRINGi | 9606.ENSP00000373450 |
Miscellaneous databases
RNActi | Q07617, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q07617 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 209 – 242 | TPR 1Add BLAST | 34 | |
Repeati | 244 – 275 | TPR 2Add BLAST | 32 | |
Repeati | 276 – 309 | TPR 3Add BLAST | 34 | |
Repeati | 445 – 478 | TPR 4Add BLAST | 34 | |
Repeati | 487 – 520 | TPR 5Add BLAST | 34 | |
Repeati | 522 – 554 | TPR 6Add BLAST | 33 | |
Repeati | 623 – 656 | TPR 7Add BLAST | 34 | |
Repeati | 657 – 690 | TPR 8Add BLAST | 34 | |
Repeati | 692 – 724 | TPR 9Add BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 422 – 428 | Poly-Ala | 7 |
Keywords - Domaini
Repeat, TPR repeatPhylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000154697 |
HOGENOMi | CLU_044641_0_0_1 |
InParanoidi | Q07617 |
OMAi | QYRKAYV |
OrthoDBi | 1070087at2759 |
PhylomeDBi | Q07617 |
TreeFami | TF106251 |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR025986, RPAP3-like_C IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR001440, TPR_1 IPR019734, TPR_repeat |
Pfami | View protein in Pfam PF13877, RPAP3_C, 1 hit PF00515, TPR_1, 1 hit PF13181, TPR_8, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 9 hits |
SUPFAMi | SSF48452, SSF48452, 3 hits |
PROSITEi | View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 4 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q07617-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE
60 70 80 90 100
EGYYPELTEF CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK
110 120 130 140 150
SWVSEIKKEE DKMHFHETET FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT
160 170 180 190 200
KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK TVIDKSHLSK IETRIDTAGL
210 220 230 240 250
TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP TVVAYNNRAQ
260 270 280 290 300
AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS
310 320 330 340 350
KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE
360 370 380 390 400
EGKSGRKHED GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA
410 420 430 440 450
RGAPQRGQTP EAGADKRSPR RASAAAAAGG GATGHPGGGQ GAENPAGLKS
460 470 480 490 500
QGNELFRSGQ FAEAAGKYSA AIALLEPAGS EIADDLSILY SNRAACYLKE
510 520 530 540 550
GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA YVDYKTVLQI
560 570 580 590 600
DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE
610 620 630 640 650
MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL
660 670 680 690 700
KINNKECAIY TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA
710 720 730 740 750
HKGLKNYQKS LIDLNKVILL DPSIIEAKME LEEVTRLLNL KDKTAPFNKE
760 770 780 790 800
KERRKIEIQE VNEGKEEPGR PAGEVSMGCL ASEKGGKSSR SPEDPEKLPI
810 820 830 840 850
AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF LSNKLEGDTF
860 870 880 890 900
LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL
910 920
FEDLSDTPNN HFTLEDIQAL KRQYEL
Sequence cautioni
The sequence AAH55091 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 187 | H → R in AAG23967 (PubMed:11517287).Curated | 1 | |
Sequence conflicti | 195 | I → V in BAG51920 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 655 | K → T in AAG23967 (PubMed:11517287).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054324 | 331 | E → K. Corresponds to variant dbSNP:rs17335870EnsemblClinVar. | 1 | |
Natural variantiVAR_054325 | 777 | M → T1 PublicationCorresponds to variant dbSNP:rs6511EnsemblClinVar. | 1 | |
Natural variantiVAR_054326 | 827 | H → Y. Corresponds to variant dbSNP:rs6510EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054290 | 366 – 416 | KPAEP…AGADK → SKIFFLFRLCKKLPFNMMSW LNFSIRTEIRNLSVFLALPC KFTSQFRSSFS in isoform 2. 1 PublicationAdd BLAST | 51 | |
Alternative sequenceiVSP_054291 | 417 – 926 | Missing in isoform 2. 1 PublicationAdd BLAST | 510 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF311312 mRNA Translation: AAG23967.1 AK057482 mRNA Translation: BAG51920.1 AC025647 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91800.1 BC055091 mRNA Translation: AAH55091.1 Sequence problems. |
CCDSi | CCDS34930.1 [Q07617-1] |
RefSeqi | NP_003105.2, NM_003114.4 [Q07617-1] NP_757367.1, NM_172218.2 [Q07617-1] XP_011515544.1, XM_011517242.2 XP_011515545.1, XM_011517243.2 [Q07617-1] |
Genome annotation databases
Ensembli | ENST00000251809; ENSP00000251809; ENSG00000104450 [Q07617-1] ENST00000388798; ENSP00000373450; ENSG00000104450 [Q07617-1] ENST00000520508; ENSP00000428070; ENSG00000104450 [Q07617-2] ENST00000520643; ENSP00000427716; ENSG00000104450 [Q07617-2] |
GeneIDi | 6674 |
KEGGi | hsa:6674 |
UCSCi | uc003yjg.2, human [Q07617-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF311312 mRNA Translation: AAG23967.1 AK057482 mRNA Translation: BAG51920.1 AC025647 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91800.1 BC055091 mRNA Translation: AAH55091.1 Sequence problems. |
CCDSi | CCDS34930.1 [Q07617-1] |
RefSeqi | NP_003105.2, NM_003114.4 [Q07617-1] NP_757367.1, NM_172218.2 [Q07617-1] XP_011515544.1, XM_011517242.2 XP_011515545.1, XM_011517243.2 [Q07617-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6I57 | NMR | - | A | 622-742 | [»] | |
SMRi | Q07617 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112556, 27 interactors |
ComplexPortali | CPX-6150, R2SP co-chaperone complex CPX-6152, R2SD co-chaperone complex |
CORUMi | Q07617 |
IntActi | Q07617, 9 interactors |
STRINGi | 9606.ENSP00000373450 |
PTM databases
iPTMneti | Q07617 |
PhosphoSitePlusi | Q07617 |
Genetic variation databases
BioMutai | SPAG1 |
DMDMi | 223634718 |
Proteomic databases
EPDi | Q07617 |
jPOSTi | Q07617 |
MassIVEi | Q07617 |
MaxQBi | Q07617 |
PaxDbi | Q07617 |
PeptideAtlasi | Q07617 |
PRIDEi | Q07617 |
ProteomicsDBi | 33786 58520 [Q07617-1] |
Protocols and materials databases
Antibodypediai | 26172, 165 antibodies |
DNASUi | 6674 |
Genome annotation databases
Ensembli | ENST00000251809; ENSP00000251809; ENSG00000104450 [Q07617-1] ENST00000388798; ENSP00000373450; ENSG00000104450 [Q07617-1] ENST00000520508; ENSP00000428070; ENSG00000104450 [Q07617-2] ENST00000520643; ENSP00000427716; ENSG00000104450 [Q07617-2] |
GeneIDi | 6674 |
KEGGi | hsa:6674 |
UCSCi | uc003yjg.2, human [Q07617-1] |
Organism-specific databases
CTDi | 6674 |
DisGeNETi | 6674 |
GeneCardsi | SPAG1 |
GeneReviewsi | SPAG1 |
HGNCi | HGNC:11212, SPAG1 |
HPAi | ENSG00000104450, Low tissue specificity |
MalaCardsi | SPAG1 |
MIMi | 603395, gene 615505, phenotype |
neXtProti | NX_Q07617 |
OpenTargetsi | ENSG00000104450 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA36049 |
VEuPathDBi | HostDB:ENSG00000104450.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1124, Eukaryota |
GeneTreei | ENSGT00940000154697 |
HOGENOMi | CLU_044641_0_0_1 |
InParanoidi | Q07617 |
OMAi | QYRKAYV |
OrthoDBi | 1070087at2759 |
PhylomeDBi | Q07617 |
TreeFami | TF106251 |
Enzyme and pathway databases
PathwayCommonsi | Q07617 |
SIGNORi | Q07617 |
Miscellaneous databases
BioGRID-ORCSi | 6674, 5 hits in 875 CRISPR screens |
ChiTaRSi | SPAG1, human |
GeneWikii | SPAG1 |
GenomeRNAii | 6674 |
Pharosi | Q07617, Tbio |
PROi | PR:Q07617 |
RNActi | Q07617, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104450, Expressed in bronchial epithelial cell and 200 other tissues |
Genevisiblei | Q07617, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 3 hits |
InterProi | View protein in InterPro IPR025986, RPAP3-like_C IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR001440, TPR_1 IPR019734, TPR_repeat |
Pfami | View protein in Pfam PF13877, RPAP3_C, 1 hit PF00515, TPR_1, 1 hit PF13181, TPR_8, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 9 hits |
SUPFAMi | SSF48452, SSF48452, 3 hits |
PROSITEi | View protein in PROSITE PS50005, TPR, 8 hits PS50293, TPR_REGION, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SPAG1_HUMAN | |
Accessioni | Q07617Primary (citable) accession number: Q07617 Secondary accession number(s): A6NP70 Q7Z5G1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 2005 |
Last sequence update: | February 10, 2009 | |
Last modified: | February 10, 2021 | |
This is version 182 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM