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SPATA17 Gene

protein-coding   GIFtS: 46
GCID: GC01P217804

Spermatogenesis Associated 17

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spermatogenesis Associated 171 2     MSRG-112
IQ Motif Containing H1 2     Spermatogenesis-Associated Protein 172
MSRG112 5     Spermatogenesis-Related Protein 112
IQCH2     

External Ids:    HGNC: 251841   Entrez Gene: 1281532   Ensembl: ENSG000001628147   OMIM: 6110325   UniProtKB: Q96L033   

Export aliases for SPATA17 gene to outside databases

Previous GC identifers: GC01P215871 GC01P188479


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPATA17 Gene:
SPATA17 (spermatogenesis associated 17) is a protein-coding gene. Diseases associated with SPATA17 include sertoli cell-only syndrome, and bulimia nervosa. GO annotations related to this gene include calmodulin binding.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPATA17 gene promoter:
         MIF-1   RelA   CUTL1   NF-kappaB   E2F-1   E2F   FOXO4   c-Jun   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA17 promoter sequence
   Search Chromatin IP Primers for SPATA17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA17


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

SPATA17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA17 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P217804:  view genomic region     (about GC identifiers)

Start:
217,804,666 bp from pter      End:
218,045,038 bp from pter
Size:
240,373 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPT17_HUMAN, Q96L03 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 17  
Size: 361 amino acids; 43499 Da
Secondary accessions: A5D6N2

Explore the universe of human proteins at neXtProt for SPATA17: NX_Q96L03

Explore proteomics data for SPATA17 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPATA17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_620151.1  
    ENSEMBL proteins: 
     ENSP00000473514   ENSP00000355900  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry Q96L03

    ProtoNet protein and cluster: Q96L03

    UniProtKB/Swiss-Prot: SPT17_HUMAN, Q96L03
    Similarity: Contains 3 IQ domains


    SPATA17 for domains           About GeneDecksing


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
         
    SPATA17 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SPATA17:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPT17_HUMAN, Q96L03: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    SPATA17 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPATA17
    Interactions:

        Search GeneGlobe Interaction Network for SPATA17

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPATA17 (SPT17)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPATA17 gene: 
    NM_138796.2  

    Unigene Cluster for SPATA17:

    Spermatogenesis associated 17
    Hs.171130  [show with all ESTs]
    Unigene Representative Sequence: AY963797
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470448 ENST00000366933(uc009xdr.1 uc001hlh.1) ENST00000492747
    ENST00000471021 ENST00000491809
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      QuantiTect SYBR Green Assays in human, mouse, rat SPATA17
      QuantiFast Probe-based Assays in human, mouse, rat SPATA17

    Additional mRNA sequence: 

    AK098591.1 AK310291.1 AY963797.1 BC014608.2 

    13 DOTS entries:

    DT.95264778  DT.100776697  DT.92445459  DT.92445456  DT.121444153  DT.92445458  DT.95264779  DT.121444191 
    DT.121444206  DT.442973  DT.92445448  DT.92445450  DT.92445451 

    Selected AceView cDNA sequences (see all 117):

    AA905508 BG211956 NM_138796 CA312581 BX440327 AI860124 BG191922 BG207941 
    BU687408 AK098591 CK725062 BC014608 CR597267 AI091492 BI459274 BI828811 
    BG207939 BU561751 AI014783 BG219461 BG187205 BX102529 BG214684 AW629239 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPATA17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCTGCAA
    SPATA17 Expression
    About this image

    SPATA17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPATA17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171130
        Custom PCR Arrays for SPATA17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA17

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SPATA17 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata171 , 5 spermatogenesis associated 171, 5 77.38(n)1
    76.18(a)1
      1 (90.23 cM)5
    747171  NM_028848.31  NP_083124.11 
     1870446485 
    chicken
    (Gallus gallus)
    Aves SPATA171 spermatogenesis associated 17 67.22(n)
    57.89(a)
      421354  XM_419414.4  XP_419414.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPATA176
    spermatogenesis associated 17
    52(a)
    1 ↔ 1
    1(242028477-242096082)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia spata171 spermatogenesis associated 17 62.41(n)
    56.53(a)
      100490367  XM_002936025.2  XP_002936071.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spata171 spermatogenesis associated 17 54.65(n)
    49.01(a)
      799739  NM_001142264.1  NP_001135736.1 


    ENSEMBL Gene Tree for SPATA17 (if available)
    TreeFam Gene Tree for SPATA17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPATA17 gene

    SPATA17 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SPATA17
    PGOHUM00000243173 PGOHUM00000243174


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPATA17 (see all 4290)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871213451,2
    --188477249(+) AGAATG/TGAAGG 1 -- us2k10--------
    rs1495748291,2
    C--188477742(+) TTCAGC/TGATAG 1 -- us2k10--------
    rs1914471941,2
    --188478081(+) TATTCC/TGCTAT 1 -- us2k10--------
    rs1131208171,2
    F--188478369(+) AATTTA/GTCTTC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1121293891,2
    F--188478492(+) TTGCTC/TCTGGA 1 -- us2k13Minor allele frequency- T:0.03CSA WA NA 240
    rs1836449971,2
    --188478672(+) CTCCCA/GCCTCC 1 -- us2k10--------
    rs731056921,2
    C,F--188478705(+) CTCGGG/TCAATC 1 -- us2k14Minor allele frequency- T:0.33WA CSA 124
    rs2008437041,2
    C--188478707(+) CGGGCA/GATCAC 1 -- us2k10--------
    rs1137290511,2
    C--188478741(+) CCAGGG/ACCGCC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs2005022821,2
    C--188478755(+) CTCACC/GAGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPATA17 (217804666 - 218045038 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPATA17 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv989721CNV Deletion20482838
    esv2674631CNV Deletion23128226
    esv1474893CNV Deletion17803354
    esv2722940CNV Deletion23290073
    esv1410169CNV Insertion17803354
    esv272752CNV Insertion20981092
    esv269446CNV Insertion20981092
    esv1000763CNV Insertion20482838
    esv268142CNV Insertion20981092
    esv268852CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 611032    OMIM disorders: --

    5 diseases for SPATA17:    
    About MalaCards
    sertoli cell-only syndrome    bulimia nervosa    cryptorchidism    eating disorder
    anorexia nervosa

    2 diseases from the University of Copenhagen DISEASES database for SPATA17:
    Sertoli cell-only syndrome     Eating disorder

    SPATA17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPATA17
    Human Genome Epidemiology (HuGE) Navigator: SPATA17 (2 documents)

    Export disorders for SPATA17 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)
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    PubMed articles for SPATA17 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPATA17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers. (PubMed id 19680270)1, 4 Nakabayashi K....Shirasawa S. (J. Hum. Genet. 2009)
    2. A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. (PubMed id 19483714)1, 4 Miyamoto T....Sengoku K. (Asian J. Androl. 2009)
    3. Expression and identification of a novel apoptosis gene Spata17 (MSRG-11) in mouse spermatogenic cells. (PubMed id 16395525)1, 3 Deng Y....Lu G.X. (Acta Biochim. Biophys. Sin. (Shanghai) 2006)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Overexpression of human SPATA17 protein induces germ cell apoptosis in transgenic male mice. (PubMed id 23079716)1 Nie D.S....Yang X. (Mol. Biol. Rep. 2013)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (Cell 2006)
    9. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 128153 HGNC: 25184 AceView: LOC128153 Ensembl:ENSG00000162814 euGenes: HUgn128153
    ECgene: SPATA17 H-InvDB: SPATA17

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPATA17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPATA17 gene:
    Search GeneIP for patents involving SPATA17

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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