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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPAG1 Gene

protein-coding   GIFtS: 51
GCID: GC08P101170

sperm associated antigen 1

 Explore 6 diseases affiliated with
SPAG1 via our new
 Human Malady Compendium 
Biological research products
for SPAG1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sperm Associated Antigen 11 2     FLJ329201
HSD-3.81 2 3     Sperm-Associated Antigen 12
SP751 2     Tetratricopeptide Repeat-Containing Protein2
TPIS1 2     TPR-Containing Protein Involved In Spermatogenesis2
Infertility-Related Sperm Protein Spag-12 3     

External Ids:    HGNC: 112121   Entrez Gene: 66742   Ensembl: ENSG000001044507   OMIM: 6033955   UniProtKB: Q076173   

Export aliases for SPAG1 gene to outside databases

Previous GC identifers: GC08P100176 GC08P101240 GC08P100839 GC08P101126 GC08P101239 GC08P096373


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPAG1:
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)

UniProtKB/Swiss-Prot: SPAG1_HUMAN, Q07617
Function: Plays a role in fertilization. Binds GTP and has GTPase activity

Gene Wiki entry for SPAG1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAG1 gene promoter:
         SRY   GATA-3   CUTL1   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPAG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.2   Ensembl cytogenetic band:  8q22.2   HGNC cytogenetic band: 8q22

SPAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P101170:  view genomic region     (about GC identifiers)

Start:
101,170,134 bp from pter      End:
101,271,506 bp from pter
Size:
101,373 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SPAG1_HUMAN, Q07617 (See protein sequence)
Recommended Name: Sperm-associated antigen 1  
Size: 926 amino acids; 103639 Da
Subcellular location: Cytoplasm
Miscellaneous: Antibodies against SPAG1 interfere with fertilization (By similarity)
Sequence caution: Sequence=AAH55091.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence;
Secondary accessions: A6NP70 Q7Z5G1

Explore the universe of human proteins at neXtProt for SPAG1: NX_Q07617

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07617

  • SPAG1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003105.2  NP_757367.1  

    ENSEMBL proteins: 
     ENSP00000427716   ENSP00000428070   ENSP00000373450   ENSP00000251809  

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    Uscn Proteins for SPAG1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    SPAG1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SPAG1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR025986 RPAP3-like_C
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q07617

    ProtoNet protein and cluster: Q07617

    UniProtKB/Swiss-Prot: SPAG1_HUMAN, Q07617
    Similarity: Contains 9 TPR repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SPAG1_HUMAN, Q07617
    Function: Plays a role in fertilization. Binds GTP and has GTPase activity

         Genatlas biochemistry entry for SPAG1:
    sperm associated antigen 1,75kDa

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0016787hydrolase activity IEA--


    SPAG1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SPAG1:
     G0/1 arrest  Increased S DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPAG1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for SPAG1 (Q076173 ENSP000002518094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCAP172523, ENSP000002843844I2D: score=1 STRING: ENSP00000284384
    PCNAP120043I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007338single fertilization IEA--


    SPAG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SPAG1

    1 HMDB Compound for SPAG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about SPAG1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPAG1 gene (2 alternative transcripts): 
    NM_003114.4  NM_172218.2  

    Unigene Cluster for SPAG1:

    Sperm associated antigen 1
    Hs.591866  [show with all ESTs]
    Unigene Representative Sequence: NM_003114
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520643(uc003yjg.1) ENST00000520508 ENST00000388798(uc003yji.2)
    ENST00000523302 ENST00000519424 ENST00000519409 ENST00000251809(uc003yjh.2)


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    hsa-miR-569 hsa-miR-182 hsa-miR-103b hsa-miR-2116 hsa-miR-34b hsa-miR-3674 hsa-miR-628-3p
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    Additional cDNA sequence: 

    AF311312.1 AK057482.1 BC055091.1 

    9 DOTS entries:

    DT.409321  DT.100754381  DT.75104704  DT.121481029  DT.75173562  DT.91965403  DT.101969872  DT.100667507 
    DT.100783746 

    24/51 AceView cDNA sequences (see all 51):

    BF739945 AK057482 AI452902 CB321799 BM557203 NM_003114 NM_172218 BX117722 
    AI167655 BM981630 CB161106 BC055091 AW173216 BU567487 BU674622 AW854258 
    AI239514 CA423307 AI624411 BX456239 AW592742 AL079393 CD357612 CN478700 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPAG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGAAAGCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SPAG1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SPAG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPAG1

    SOURCE GeneReport for Unigene cluster: Hs.591866

    UniProtKB/Swiss-Prot: SPAG1_HUMAN, Q07617
    Tissue specificity: Detected in sperm and testis, in particular in pachytene primary spermatocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPAG1 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SPAG11 sperm associated antigen 1 66.43(n)
    57.92(a)
      420249  XM_418360.3  XP_418360.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPAG16
    --
    52(a)
    1 ↔ 1
    GL343394.1(260659-292825)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44272 Xenopus laevis transcribed sequence with weak similarity more 71.18(n)    CA973487.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spag1b1 sperm associated antigen 1b 46.12(n)
    35.53(a)
      768178  NM_001077321.1  NP_001070789.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG184721 CG18472 47.48(n)
    37.14(a)
      43239  NM_143257.2  NP_651514.1 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    heat shock protein STI, putative, expressed
    U-box domain containing heat shock protein, putati...
    (see all 3)
    9(a)
    13(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    6(3034392-3038391)
    6(3050105-3054710)


    ENSEMBL Gene Tree for SPAG1 (if available)
    TreeFam Gene Tree for SPAG1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPAG1 gene
    RPAP32  TOMM342  STIP12  TTC12  
    1 SIMAP similar gene for SPAG1 using alignment to 2 protein entries:     SPAG1_HUMAN (see all proteins):
    TOMM34

    SPAG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1297 NCBI SNPs in SPAG1 are shown (see all 1297    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1881893641,2
    --101168304(+) ATTACC/TGAAAC 1 -- us2k10--------
    rs1448740651,2
    C,--101168309(+) GAAAC-/AGAGAAA 1 -- us2k10--------
    rs1460518781,2
    --101168587(+) AGACCA/GTCTGT 2 -- us2k10--------
    rs1998443941,2
    C--101168645(-) ACTTCC/TCACCA 2 -- us2k10--------
    rs732790031,2
    C,--101168765(+) CCTGGC/GTAAGT 2 -- us2k12Minor allele frequency- G:0.05WA 120
    rs736961571,2
    C,--101168855(+) AAAAAT/ATTTTT 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs744338681,2
    C,--101168856(+) AAAAAA/TTTTTT 2 -- us2k10--------
    rs1135506931,2
    C,--101168864(+) TTTTTT/CTATTT 2 -- us2k12Minor allele frequency- C:0.05WA 120
    rs24536441,2
    C,F,H,--101168989(+) CTGCCG/AAGCAT 2 -- us2k115Minor allele frequency- A:0.32NS EA NA WA CSA 793
    rs1401895051,2
    --101169098(+) TGTAAA/GTTAAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPAG1 (101170134 - 101271506 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPAG1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SPAG1 for disorders           About GeneDecksing

    OMIM gene information: 603395    OMIM disorders: --

    6 diseases for SPAG1:    About MalaCards
    infertility    myofascial pain syndrome    theileriasis    paine syndrome
    pancreatitis    malaria

    1 disease from the University of Copenhagen DISEASES database for SPAG1:
    Myofascial pain syndrome

    Export disorders for SPAG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPAG1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SPAG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A sperm component, HSD-3.8 (SPAG1), interacts with G-protein beta 1 subunit and activates extracellular signal-regulated kinases (ERK). (PubMed id 16368546)1, 3 Liu N....Wang L. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Expression and function of the HSD-3.8 gene encoding a testis- specific protein. (PubMed id 11517287)1, 2 Lin W....Koide S.S. (2001)
    4. Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility. (PubMed id 1299558)1, 2 Zhang M.L.... Koide S.S. (1992)
    5. Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells. (PubMed id 16983343)1, 9 Neesse A....Crnogorac-Jurcevic T. (2007)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Proliferating cell nuclear antigen in the cytoplasm i nteracts with components of glycolysis and cancer. (PubMed id 20849852)1 Naryzhny S.N. and Lee H. (2010)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6674 HGNC: 11212 AceView: SPAG1 Ensembl:ENSG00000104450 euGenes: HUgn6674
    ECgene: SPAG1 H-InvDB: SPAG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPAG1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPAG1 gene:
    Search GeneIP for patents involving SPAG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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