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

SPACA1 Gene

protein-coding   GIFtS: 43
GCID: GC06P088814

sperm acrosome associated 1

 Explore 1 disease affiliated with
SPACA1 via our new
 Human Malady Compendium 
Biological research products
for SPACA1
    

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

Aliases
Sperm Acrosome Associated 11 2
SAMP321 2 3 5
Sperm Acrosomal Membrane-Associated Protein 322 3
Sperm Acrosome Membrane-Associated Protein 12

External Ids:    HGNC: 149671   Entrez Gene: 818332   Ensembl: ENSG000001184347   OMIM: 6127395   UniProtKB: Q9HBV23   

Export aliases for SPACA1 gene to outside databases

Previous GC identifers: GC06P088703 GC06P088753 GC06P085972


(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 SPACA1:
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 antibodies from infertile males. Furthermore,
antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the
acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis
and in sperm-egg binding and fusion, respectively. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SACA1_HUMAN, Q9HBV2
Function: May be involved in sperm-egg fusion




(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_000006.11  NC_018917.1  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPACA1 gene promoter:
         AML1a   CUTL1   HNF-3beta   POU3F2   C/EBPalpha   GATA-1   POU2F1   HSF2   POU2F1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPACA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPACA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPACA1


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

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

SPACA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPACA1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P088814:  view genomic region     (about GC identifiers)

Start:
88,757,507 bp from pter      End:
88,776,550 bp from pter
Size:
19,044 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: SACA1_HUMAN, Q9HBV2 (See protein sequence)
Recommended Name: Sperm acrosome membrane-associated protein 1 precursor  
Size: 294 amino acids; 32143 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Explore the universe of human proteins at neXtProt for SPACA1: NX_Q9HBV2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HBV2

  • SPACA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_112222.1  
    ENSEMBL proteins: 
     ENSP00000237201  

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    Uscn Proteins for SPACA1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    SPACA1 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

    ProtoNet protein and cluster: Q9HBV2


    (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: SACA1_HUMAN, Q9HBV2
    Function: May be involved in sperm-egg fusion

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    Animal Models:
         Mouse knock-out Spaca1tm1.1Osb for SPACA1
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Spaca1):
     reproductive system 

    SPACA1 for phenotypes           About GeneDecksing


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPACA1

    (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 SPACA1
    Search CenterWatch for drugs/clinical trials and news about SPACA1 / SACA1 

    (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,
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    About This Section

    REFSEQ mRNAs for SPACA1 gene: 
    NM_030960.2  

    Unigene Cluster for SPACA1:

    Sperm acrosome associated 1
    Hs.161241  [show with all ESTs]
    Unigene Representative Sequence: NM_030960
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000237201(uc003pmn.3) ENST00000462690 ENST00000462227

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    Additional cDNA sequence: 

    AF203447.1 BC029488.1 

    2 DOTS entries:

    DT.40308979  DT.95367449 

    12 AceView cDNA sequences:

    BC029488 BX089091 BI463037 AI419884 BI825572 AF203447 BI830813 BI826637 
    NM_030960 BI829277 AA824354 AI809484 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SPACA1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:                                      -                     
    SP2:                                                            


    ECgene alternative splicing isoforms for SPACA1

    (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

    SPACA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTCACACA

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

    About this image
    See SPACA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPACA1

    SOURCE GeneReport for Unigene cluster: Hs.161241

    UniProtKB/Swiss-Prot: SACA1_HUMAN, Q9HBV2
    Tissue specificity: Testis specific. At the equatorial segment and the inner acrosomal membrane of capacitated sperm

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    In Situ
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    (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 chordates.

    Orthologs for SPACA1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spaca11 , 5 sperm acrosome associated 11, 5 78.73(n)1
    71.67(a)1
      4 (16.63 cM)5
    676521  NM_026293.31  NP_080569.11 
     340248745 
    chicken
    (Gallus gallus)
    Aves SPACA11 sperm acrosome associated 1 62.75(n)
    50(a)
      421820  XM_419844.3  XP_419844.2 
    lizard
    (Anolis carolinensis)
    Reptilia SPACA16
    --
    50(a)
    1 ↔ 1
    1(176003968-176016010)


    ENSEMBL Gene Tree for SPACA1 (if available)
    TreeFam Gene Tree for SPACA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/315 NCBI SNPs in SPACA1 are shown (see all 315    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs13240761,2
    C,F,A,H,--88755584(+) CACATA/GCCAAA 1 -- us2k110Minor allele frequency- G:0.26NS EA NA WA 798
    rs8064231,2
    C,F,A,H,--88755756(+) GGATCG/CAGGGT 1 -- us2k117Minor allele frequency- C:0.11NA NS EA WA CSA 805
    rs1811462051,2
    --88755869(+) GCTAGA/GGAGAG 1 -- us2k10--------
    rs1862267851,2
    --88755939(+) CATGCA/GTGACA 1 -- us2k10--------
    rs1919763661,2
    --88755974(+) TGCTGC/TTATTA 1 -- us2k10--------
    rs1814693771,2
    --88755986(+) AGATAC/TTAATA 1 -- us2k10--------
    rs773162361,2
    F,--88756239(+) TTTGAC/TGGCAT 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs8064241,2
    C,F,A,H,--88756333(+) GATCAT/AATCTA 1 -- us2k118Minor allele frequency- A:0.11NS EA NA WA CSA 814
    rs1463459471,2
    --88756347(+) TTTCCA/CTGTTA 1 -- us2k10--------
    rs1874233171,2
    --88756381(+) CGCTAC/TATTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPACA1 (88757507 - 88776550 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPACA1: --

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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

    SPACA1 for disorders           About GeneDecksing

    OMIM gene information: 612739    OMIM disorders: --

    1 disease for SPACA1:    About MalaCards
    infertility

    Human Genome Epidemiology (HuGE) Navigator: SPACA1 (1 document)

    Export disorders for SPACA1 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 SPACA1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SPACA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SAMP32, a testis-specific, isoantigenic sperm acrosomal membrane- associated protein. (PubMed id 11870081)1, 2, 9 Hao Z.... Herr J.C. (2002)
    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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1 Yokoyama K....Hosoya T. (2010)
    5. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)1 Vasan R.S....Benjamin E.J. (2007)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    7. Anti-sperm antibodies from infertile patients and their cognate sperm antigens: a review. Identity between SAGA-1, the H6-3C4 antigen, and CD52. (PubMed id 10735589)1 Diekman A.B....Herr J.C. (2000)
    8. Mammalian sperm acrosome: formation, contents, and function. (PubMed id 10898932)1 Abou-Haila A. and Tulsiani D.R. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81833 HGNC: 14967 AceView: SPACA1 Ensembl:ENSG00000118434 euGenes: HUgn81833
    ECgene: SPACA1 H-InvDB: SPACA1

    (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 SPACA1 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 SPACA1 gene:
    Search GeneIP for patents involving SPACA1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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