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SPATA31E1 Gene

protein-coding   GIFtS: 33
GCID: GC09P090499

SPATA31 Subfamily E, Member 1

(Previous names: chromosome 9 open reading frame 79, family with sequence...)
(Previous symbols: C9orf79, FAM75E1)
  Search for SPATA31E1
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(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
SPATA31 Subfamily E, Member 11 2     Chromosome 9 Open Reading Frame 791
C9orf791 2 3     XXyac-YM21GA2.52
FAM75E11 2 3     FAM75-Like Protein C9orf792
Family With Sequence Similarity 75, Member E11 2     Spermatogenesis-Associated Protein 31E12
Protein FAM75E12 3     

External Ids:    HGNC: 266721   Entrez Gene: 2862342   Ensembl: ENSG000001779927   UniProtKB: Q6ZUB13   

Export aliases for SPATA31E1 gene to outside databases


(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 SPATA31E1 Gene:
SPATA31E1 (SPATA31 subfamily E, member 1) is a protein-coding gene. An important paralog of this gene is SPATA31A1.

UniProtKB/Swiss-Prot: S31E1_HUMAN, Q6ZUB1
Function: May play a role in spermatogenesis (By similarity)




(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_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPATA31E1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPATA31E1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA31E1


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

Entrez Gene cytogenetic band: 9q22.1   Ensembl cytogenetic band:  9q22.1   HGNC cytogenetic band: 9q22.1-q22.2

SPATA31E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA31E1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P090499:  view genomic region     (about GC identifiers)

Start:
90,497,741 bp from pter      End:
90,503,814 bp from pter
Size:
6,074 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S31E1_HUMAN, Q6ZUB1 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 31E1  
Size: 1445 amino acids; 157136 Da
Sequence caution: Sequence=BAC04087.1; Type=Erroneous initiation; Sequence=CAD39098.1; Type=Erroneous initiation;
Secondary accessions: B2RPB1 Q5SQC9 Q8NA41 Q8ND27

Explore the universe of human proteins at neXtProt for SPATA31E1: NX_Q6ZUB1

Explore proteomics data for SPATA31E1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn408, Asn819, Asn906, Asn1160

  • See SPATA31E1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_849150.3  
    ENSEMBL proteins: 
     ENSP00000322640  

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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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    1 InterPro protein domain:
     IPR027970 DUF4599

    Graphical View of Domain Structure for InterPro Entry Q6ZUB1

    ProtoNet protein and cluster: Q6ZUB1

    UniProtKB/Swiss-Prot: S31E1_HUMAN, Q6ZUB1
    Similarity: Belongs to the SPATA31 family


    SPATA31E1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S31E1_HUMAN, Q6ZUB1
    Function: May play a role in spermatogenesis (By similarity)

    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
    S31E1_HUMAN, Q6ZUB1: Membrane; Single-pass membrane protein (Potential)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    SPATA31E1 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 SPATA31E1
    Interactions:

        Search GeneGlobe Interaction Network for SPATA31E1

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

    2 Interacting proteins for SPATA31E1 (Q6ZUB12, 3 ENSP000003226404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    --P310162MINT-8106945
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--

    SPATA31E1 for ontologies           About GeneDecksing



    (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 SPATA31E1 (S31E1)



    (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,
    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 SPATA31E1 gene: 
    NM_178828.4  

    Unigene Cluster for SPATA31E1:

    SPATA31 subfamily E, member 1
    Hs.130672  [show with all ESTs]
    Unigene Representative Sequence: NM_178828
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000325643(uc004app.4)
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    Additional mRNA sequence: 

    AK093185.1 AK093206.1 AK125845.1 AL834438.1 BC137349.1 

    1 DOTS entry:

    DT.100018531 

    8 AceView cDNA sequences:

    AX747978 AK093185 AL834438 AK125845 AI382109 NM_178828 BX115957 AI005646 

    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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    SPATA31E1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPATA31E1 Expression
    About this image

    SPATA31E1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPATA31E1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130672
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA31E1

    (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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      --

    ENSEMBL Gene Tree for SPATA31E1 (if available)
    TreeFam Gene Tree for SPATA31E1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPATA31E1 gene
    SPATA31A12  SPATA31D12  SPATA31A72  SPATA31A62  SPATA31A22  SPATA31A52  SPATA31A32  SPATA31A42  

    SPATA31E1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SPATA31E1
    PGOHUM00000246620 PGOHUM00000246669


    (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 SPATA31E1 (see all 424)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs734932621,2
    C,F--90495794(+) CCCTCG/ATTGCA 1 -- us2k12Minor allele frequency- A:0.13WA 120
    rs1403136441,2
    --90495807(+) AGGCAC/GGTGGG 1 -- us2k10--------
    rs1171579171,2
    F--90495955(+) GCGAAC/TATCAG 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs801892561,2
    F--90496017(+) GATGCG/AACCAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1407329471,2
    --90496061(+) AGAGCA/GCACCT 1 -- us2k10--------
    rs78628131,2
    C,F,A,H--90496078(+) CTGGCA/GGTGGC 1 -- us2k123Minor allele frequency- G:0.38NS EA NA WA CSA 2349
    rs784682921,2
    C,F--90496096(+) GAGGCG/AATTCC 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs111420131,2
    C,F--90496101(+) GATTCC/TTTGCA 1 -- us2k11Minor allele frequency- T:0.27EA 120
    rs65600421,2
    C,F,A--90496107(+) TTGCAC/TGCCCA 1 -- us2k112Minor allele frequency- T:0.43NA WA CSA EA 375
    rs1916921541,2
    --90496108(+) TGCATA/GCCCAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPATA31E1 (90497741 - 90503814 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPATA31E1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPATA31E1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA31E1

    (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.)
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      --

    (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 SPATA31E1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPATA31E1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 286234 HGNC: 26672 AceView: C9orf79 Ensembl:ENSG00000177992 euGenes: HUgn286234
    ECgene: SPATA31E1 H-InvDB: SPATA31E1

    (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 SPATA31E1 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 SPATA31E1 gene:
    Search GeneIP for patents involving SPATA31E1

    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
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPATA31E1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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