SPAG1
Sperm-associated antigen 1
Also known as: CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8, SP75, SPAG1_HUMAN, TPIS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07617
- Gene
- SPAG1
- Ensembl
- ENSG00000104450
- Chromosome
- 8
- Canonical length
- 926 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Primary cilium,Cytosol,Principal piece
OverviewNCBI Gene
The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
926 residues, UniProt reviewed canonical sequence.
>Q07617|SPAG1
1 MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE EGYYPELTEF
61 CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK SWVSEIKKEE DKMHFHETET
121 FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK
181 TVIDKSHLSK IETRIDTAGL TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP
241 TVVAYNNRAQ AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS
301 KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE EGKSGRKHED
361 GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA RGAPQRGQTP EAGADKRSPR
421 RASAAAAAGG GATGHPGGGQ GAENPAGLKS QGNELFRSGQ FAEAAGKYSA AIALLEPAGS
481 EIADDLSILY SNRAACYLKE GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA
541 YVDYKTVLQI DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE
601 MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL KINNKECAIY
661 TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA HKGLKNYQKS LIDLNKVILL
721 DPSIIEAKME LEEVTRLLNL KDKTAPFNKE KERRKIEIQE VNEGKEEPGR PAGEVSMGCL
781 ASEKGGKSSR SPEDPEKLPI AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF
841 LSNKLEGDTF LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL
901 FEDLSDTPNN HFTLEDIQAL KRQYELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPAG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- testis: 18 nTPM
- rectum: 17 nTPM
- colon: 12 nTPM
- choroid plexus: 10 nTPM
- bone marrow: 9.6 nTPM
- fallopian tube: 9.4 nTPM
Single-cell type
- endometrial ciliated cells: 598 nCPM
- respiratory ciliated cells: 456 nCPM
- epididymal efferent duct ciliated cells: 452 nCPM
- fallopian tube ciliated cells: 414 nCPM
- ependymal cells: 413 nCPM
- choroid plexus epithelial cells: 294 nCPM
Immune cell
- NK-cell: 1 nTPM
- memory B-cell: 0.8 nTPM
- neutrophil: 0.7 nTPM
- eosinophil: 0.6 nTPM
- naive B-cell: 0.3 nTPM
- non-classical monocyte: 0.2 nTPM
Brain region
- choroid plexus: 30 nTPM
- midbrain: 20 nTPM
- medulla oblongata: 16 nTPM
- spinal cord: 13 nTPM
- pons: 12 nTPM
- white matter: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPAG1.
Disease | AllUniProt
Conditions SPAG1 is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 28 (CILD28) MIM:615505
Disease | GeneticClinVar
70 pathogenic / likely-pathogenic of 623 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primary ciliary dyskinesia 28
- Primary ciliary dyskinesia
- SPAG1-related disorder
- Autosomal dominant nocturnal frontal lobe epilepsy 5
- Kartagener syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.91
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPAG1 as an antibody target. Whether an autoantibody or antibody against SPAG1 could matter depends on whether native SPAG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPAG1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization.
- The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman.
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