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Protein

Sperm-associated antigen 1

Gene

SPAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi781 – 788GTPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • single fertilization Source: ProtInc

Keywordsi

Molecular functionHydrolase
Biological processFertilization
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ07617

Names & Taxonomyi

Protein namesi
Recommended name:
Sperm-associated antigen 1
Alternative name(s):
HSD-3.8
Infertility-related sperm protein Spag-1
Gene namesi
Name:SPAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104450.12
HGNCiHGNC:11212 SPAG1
MIMi603395 gene
neXtProtiNX_Q07617

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 28 (CILD28)1 Publication
The disease is caused by mutations 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.
See also OMIM:615505

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi6674
MalaCardsiSPAG1
MIMi615505 phenotype
OpenTargetsiENSG00000104450
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA36049

Polymorphism and mutation databases

BioMutaiSPAG1
DMDMi223634718

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063241 – 926Sperm-associated antigen 1Add BLAST926

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei347PhosphoserineCombined sources1
Modified residuei354PhosphoserineBy similarity1
Modified residuei423PhosphoserineCombined sources1
Modified residuei791PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ07617
MaxQBiQ07617
PaxDbiQ07617
PeptideAtlasiQ07617
PRIDEiQ07617
ProteomicsDBi58520

PTM databases

iPTMnetiQ07617
PhosphoSitePlusiQ07617

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

BgeeiENSG00000104450
CleanExiHS_SPAG1
GenevisibleiQ07617 HS

Organism-specific databases

HPAiHPA023748
HPA053682

Interactioni

Protein-protein interaction databases

BioGridi112556, 17 interactors
IntActiQ07617, 7 interactors
STRINGi9606.ENSP00000251809

Structurei

3D structure databases

ProteinModelPortaliQ07617
SMRiQ07617
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati209 – 242TPR 1Add BLAST34
Repeati244 – 275TPR 2Add BLAST32
Repeati276 – 309TPR 3Add BLAST34
Repeati445 – 478TPR 4Add BLAST34
Repeati487 – 520TPR 5Add BLAST34
Repeati522 – 554TPR 6Add BLAST33
Repeati623 – 656TPR 7Add BLAST34
Repeati657 – 690TPR 8Add BLAST34
Repeati692 – 724TPR 9Add BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi422 – 428Poly-Ala7

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00900000140844
HOGENOMiHOG000293399
HOVERGENiHBG079204
InParanoidiQ07617
KOiK19870
OMAiPLQAWHP
OrthoDBiEOG091G0FFR
PhylomeDBiQ07617
TreeFamiTF106251

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR025986 RPAP3-like_C
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR001440 TPR_1
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13877 RPAP3_C, 1 hit
PF00515 TPR_1, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 9 hits
SUPFAMiSSF48452 SSF48452, 3 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 4 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q07617-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:926
Mass (Da):103,639
Last modified:February 10, 2009 - v3
Checksum:i947E460842AD9615
GO
Isoform 2 (identifier: Q07617-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-416: KPAEPAGAAR...GQTPEAGADK → SKIFFLFRLC...FTSQFRSSFS
     417-926: Missing.

Show »
Length:416
Mass (Da):48,031
Checksum:i369ECA250ED387EE
GO

Sequence cautioni

The sequence AAH55091 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti187H → R in AAG23967 (PubMed:11517287).Curated1
Sequence conflicti195I → V in BAG51920 (PubMed:14702039).Curated1
Sequence conflicti655K → T in AAG23967 (PubMed:11517287).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054324331E → K. Corresponds to variant dbSNP:rs17335870EnsemblClinVar.1
Natural variantiVAR_054325777M → T1 PublicationCorresponds to variant dbSNP:rs6511EnsemblClinVar.1
Natural variantiVAR_054326827H → Y. Corresponds to variant dbSNP:rs6510EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054290366 – 416KPAEP…AGADK → SKIFFLFRLCKKLPFNMMSW LNFSIRTEIRNLSVFLALPC KFTSQFRSSFS in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_054291417 – 926Missing in isoform 2. 1 PublicationAdd BLAST510

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.
CCDSiCCDS34930.1 [Q07617-1]
RefSeqiNP_003105.2, NM_003114.4 [Q07617-1]
NP_757367.1, NM_172218.2 [Q07617-1]
XP_011515544.1, XM_011517242.2 [Q07617-1]
XP_011515545.1, XM_011517243.2 [Q07617-1]
UniGeneiHs.591866

Genome annotation databases

EnsembliENST00000251809; ENSP00000251809; ENSG00000104450 [Q07617-1]
ENST00000388798; ENSP00000373450; ENSG00000104450 [Q07617-1]
ENST00000520508; ENSP00000428070; ENSG00000104450 [Q07617-2]
ENST00000520643; ENSP00000427716; ENSG00000104450 [Q07617-2]
GeneIDi6674
KEGGihsa:6674
UCSCiuc003yjg.2 human [Q07617-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPAG1_HUMAN
AccessioniPrimary (citable) accession number: Q07617
Secondary accession number(s): A6NP70
, B3KQ58, G3XAM3, Q7Z5G1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 10, 2009
Last modified: June 20, 2018
This is version 164 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

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