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

SPATA1 Gene

protein-coding   GIFtS: 34
GCID: GC01P084971

Spermatogenesis Associated 1

  Search for SPATA1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Spermatogenesis Associated 11 2
Sperm-Specific Protein SP-22 3
SP-22
SPAP12
Spermatogenesis Associated Protein 12
Spermatogenesis-Associated Protein 12

External Ids:    HGNC: 146821   Entrez Gene: 1005057412   Ensembl: ENSG000001224327   UniProtKB: Q5VX523   

Export aliases for SPATA1 gene to outside databases

Previous GC identifers: GC01M085538 GC01P084109 GC01P084260 GC01P084394 GC01P084684 GC01P084744


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

GeneCards Summary for SPATA1 Gene: 
SPATA1 (spermatogenesis associated 1) is a protein-coding gene.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPATA1 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   C/EBPalpha   Nkx3-1 v2   AREB6   CHOP-10   NF-AT4   NF-AT3   Nkx3-1 v3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPATA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA1


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

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

SPATA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P084971:  view genomic region     (about GC identifiers)

Start:
84,971,974 bp from pter      End:
85,031,877 bp from pter
Size:
59,904 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPAT1_HUMAN, Q5VX52 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 1  
Size: 437 amino acids; 50307 Da
Sequence caution: Sequence=AAG22047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAI19642.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI19643.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI27635.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=CAH70205.2; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=CAM13069.1; Type=Erroneous gene model prediction;
Secondary accessions: A0PJU9 Q0VDJ9 Q0VDK0 Q6P386 Q9HAR4
Alternative splicing: 3 isoforms:  Q5VX52-1   Q5VX52-2   Q5VX52-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA1: NX_Q5VX52

Explore proteomics data for SPATA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VX52

  • SPATA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPATA1 Protein Expression

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

    ProtoNet protein and cluster: Q5VX52


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPATA1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPATA1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPATA1 (SPAT1)

    Search CenterWatch for drugs/clinical trials and news about SPATA1 / SPAT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for SPATA1 gene (2 alternative transcripts): 
    NM_001081472.1  NM_022354.1  

    Unigene Cluster for SPATA1:

    Spermatogenesis associated 1
    Hs.584956  [show with all ESTs]
    Unigene Representative Sequence: BC119642
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370638(uc001djx.3) ENST00000484939 ENST00000490879(uc001djy.2)
    ENST00000468437 ENST00000431031 ENST00000554297 ENST00000485121 ENST00000473108
    ENST00000460286 ENST00000263717(uc021opb.1)
    miRNA
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    Additional mRNA sequence: 

    BC119641.1 BC119642.1 

    7 DOTS entries:

    DT.91751364  DT.91974728  DT.75160642  DT.95148407  DT.95231208  DT.97809837  DT.121427686 

    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

    SPATA1 expression in normal human tissues (normalized intensities)      SPATA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACTATAAG
    SPATA1 Expression
    About this image


    SPATA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             retina   
     
     Testis (Reproductive System)
             sperm   

    See SPATA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA1

    SOURCE GeneReport for Unigene cluster: Hs.584956
        SABiosciences Custom PCR Arrays for SPATA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA1

    (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 SPATA1 gene from 2/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata11 , 5 spermatogenesis associated 11, 5 85.85(n)1
    78.66(a)1
      3 (71.30 cM)5
    709511  NM_027617.31  NP_081893.11 
     1464572035 
    chicken
    (Gallus gallus)
    Aves SPATA11 spermatogenesis associated 1 66.28(n)
    56.07(a)
      424537  XM_422374.3  XP_422374.2 


    ENSEMBL Gene Tree for SPATA1 (if available)
    TreeFam Gene Tree for SPATA1 (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, 4UniProtKB, 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

    10/896 SNPs in SPATA1 are shown (see all 896)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs790631241,2
    C,F--83086419(+) AGAATG/TTGGGG 1 -- int12Minor allele frequency- T:0.40NA 10
    rs57757891,2
    C,F--83096423(+) ATTGAT/-TTTTT 1 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs120218851,2
    H--84976324(+) atgtcC/Tcagga 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs346488301,2
    C--84980475(+) GAAAA-/ACCTGT 1 -- int10--------
    rs2012064761,2
    C--84981938(+) AAAAA-/ACTATT 1 -- ut510--------
    rs1468019791,2
    --84988506(+) AGCTCA/GTTAAA 1 -- us2k10--------
    rs1476289161,2
    C--84988585(+) ATGTC-/TTGGTG 1 -- us2k10--------
    rs75472081,2
    C,F--84988604(+) GATCCC/TGACCA 1 -- us2k13Minor allele frequency- T:0.05WA NA EA 358
    rs75241951,2
    C,F--84988640(+) GGTAGG/AATCAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs38136071,2
    C,F,A,H--84988654(-) CTAATT/CCCCCA 1 -- us2k18Minor allele frequency- C:0.15EA WA NA 1658

    HapMap Linkage Disequilibrium report for SPATA1 (84971974 - 85031877 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPATA1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPATA1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA1

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

    SPATA1 for disorders           About MalaCards

    SPATA1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPATA1
    Human Genome Epidemiology (HuGE) Navigator: SPATA1 (1 document)

    Export disorders for SPATA1 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 SPATA1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SPATA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (2010)
    4. 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)
    5. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    6. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (2001)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (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: 100505741 HGNC: 14682 Ensembl:ENSG00000122432 euGenes: HUgn100505741 ECgene: SPATA1
    H-InvDB: SPATA1

    (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 SPATA1 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 SPATA1 gene:
    Search GeneIP for patents involving SPATA1

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

     
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     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPATA1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SPATA1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPATA1
    Customized:
     lentivirus for stable overexpression of SPATA1
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     LSBio Antibodies in human, mouse, rat for SPATA1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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