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SPATA6L Gene

protein-coding   GIFtS: 35
GCID: GC09M004553

Spermatogenesis Associated 6-Like

(Previous name: chromosome 9 open reading frame 68)
(Previous symbol: C9orf68)
  Search for SPATA6L
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 6-Like1 2
C9orf681 2 3
Chromosome 9 Open Reading Frame 681
bA6J24.22
Spermatogenesis Associated 6-Like Protein2

External Ids:    HGNC: 254721   Entrez Gene: 550642   Ensembl: ENSG000001066867   UniProtKB: Q8N4H03   

Export aliases for SPATA6L 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 SPATA6L Gene:
SPATA6L (spermatogenesis associated 6-like) is a protein-coding gene. An important paralog of this gene is SPATA6.


(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  NT_008413.19  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPATA6L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPATA6L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA6L


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

Entrez Gene cytogenetic band: 9p24.2   Ensembl cytogenetic band:  9p24.1   HGNC cytogenetic band: 9p24.2

SPATA6L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA6L gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M004553:  view genomic region     (about GC identifiers)

Start:
4,553,386 bp from pter      End:
4,666,674 bp from pter
Size:
113,289 bases      Orientation:
minus 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: SPA6L_HUMAN, Q8N4H0 (See protein sequence)
Recommended Name: Spermatogenesis associated 6-like protein  
Size: 392 amino acids; 45058 Da
Secondary accessions: B4DIY4 Q5JVJ5 Q8IY90
Alternative splicing: 3 isoforms:  Q8N4H0-1   Q8N4H0-2   Q8N4H0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA6L: NX_Q8N4H0

Explore proteomics data for SPATA6L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPATA6L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034484.3  
    ENSEMBL proteins: 
     ENSP00000420003   ENSP00000418458   ENSP00000417965   ENSP00000371314   ENSP00000417063  
     ENSP00000384342   ENSP00000404277   ENSP00000371319  

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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:
     IPR027208 SPATA6L

    Graphical View of Domain Structure for InterPro Entry Q8N4H0

    ProtoNet protein and cluster: Q8N4H0

    UniProtKB/Swiss-Prot: SPA6L_HUMAN, Q8N4H0
    Similarity: Belongs to the SPATA6 family


    SPATA6L 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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    Phenotypes:
         1 GenomeRNAi human phenotype for SPATA6L:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPATA6L
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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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    (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 SPATA6L
    Interactions:

        Search GeneGlobe Interaction Network for SPATA6L

    (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 SPATA6L (SPA6L)



    (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 SPATA6L gene (2 alternative transcripts): 
    NM_017985.3  NM_001039395.3  

    Unigene Cluster for SPATA6L:

    Spermatogenesis associated 6-like
    Hs.179615  [show with all ESTs]
    Unigene Representative Sequence: BX649030
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485616(uc003zik.3) ENST00000461761 ENST00000486047(uc003zil.3)
    ENST00000381890 ENST00000475086 ENST00000406861 ENST00000223517 ENST00000496798
    ENST00000498087 ENST00000451763(uc003zim.3) ENST00000485981 ENST00000471669
    ENST00000497383 ENST00000454239(uc011lly.2 uc011llz.2) ENST00000381895

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    Additional mRNA sequence: 

    AK295831.1 AK301790.1 BX649030.1 

    11 DOTS entries:

    DT.202845  DT.95255315  DT.109787  DT.100019583  DT.101976926  DT.75169274  DT.100747449  DT.121143597 
    DT.121143605  DT.75126405  DT.121143554 

    Selected AceView cDNA sequences (see all 29):

    AU117437 AI354943 BI826180 BX100219 BI520328 AW135596 BF194854 NM_017985 
    BC036349 BI827091 BM982488 AA936404 AI695191 AL603321 AK000920 BX649030 
    BP369387 AW611804 BC034293 AW246578 AI806217 AW246362 AA609149 BQ016484 

    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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    SPATA6L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGGCAAG
    SPATA6L Expression
    About this image

    SPATA6L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPATA6L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.179615
        Custom PCR Arrays for SPATA6L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA6L

    (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 SPATA6L gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia SPATA6L6
    spermatogenesis associated 6-like
    26(a)
    1 ↔ 1
    2(52011855-52058728)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.108302 Xenopus laevis transcribed sequence with weak similarity more 75.28(n)    BJ074900.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC054618.12   -- 72.7(n)   393384  BC054618.1 
            Species with no ortholog for SPATA6L

    ENSEMBL Gene Tree for SPATA6L (if available)
    TreeFam Gene Tree for SPATA6L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPATA6L gene
    SPATA62  
    1 SIMAP similar gene for SPATA6L using alignment to 4 protein entries:     SPA6L_HUMAN (see all proteins):
    SPATA6

    SPATA6L for paralogs           About GeneDecksing



    (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 SPATA6L (see all 2028)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384767311,2
    --4598016(+) AAACCC/TGCCAC 1 -- int10--------
    rs625438751,2
    C,F--4598031(+) TTTATG/ATCAAA 1 -- int12Minor allele frequency- A:0.50NA 4
    rs37804101,2
    C,F,H--4598116(-) CACCTG/CACTGA 1 -- int120Minor allele frequency- C:0.07EA NS NA WA 3412
    rs1443295871,2
    --4598266(+) CTGCAA/GCCATA 1 -- int10--------
    rs1926508591,2
    --4598329(+) ATGATA/GTTTAA 1 -- ut310--------
    rs1487630371,2
    C--4598344(+) ACAGAG/TCTTCC 1 -- ut310--------
    rs27711,2
    C,F,O,A,H--4598379(+) TCACAA/GAATTA 1 -- ut3129Minor allele frequency- G:0.46MN NA NS EA WA 3074
    rs1847699451,2
    --4598533(+) TAAAGA/GGAAAA 1 -- ut310--------
    rs1423595901,2
    --4598627(+) CATTTC/GAAAAA 1 -- ut310--------
    rs1474731141,2
    C--4598648(+) TTGAAA/TGTCAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SPATA6L (4553386 - 4666674 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPATA6L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPATA6L
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA6L

    (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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      --

    (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 SPATA6L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPATA6L)
        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. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. 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: 55064 HGNC: 25472 AceView: C9orf68 Ensembl:ENSG00000106686 euGenes: HUgn55064
    ECgene: SPATA6L H-InvDB: SPATA6L

    (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 SPATA6L 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 SPATA6L gene:
    Search GeneIP for patents involving SPATA6L

    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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     Browse ESI BIO Cell Lines and PureStem Progenitors for SPATA6L
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for SPATA6L
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     ThermoFisher Antibodies for SPATA6L
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPATA6L
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     LSBio Antibodies in human, mouse, rat for SPATA6L
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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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