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

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

Aliases
Spermatogenesis Associated 6-Like1 2
C9orf681 2 3
FLJ100581
Chromosome 9 Open Reading Frame 681
BA6J24.21
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SPATA6L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N4H0

  • SPATA6L Protein expression data from MOPED and PaxDb:    About this image 
    SPATA6L Protein Expression
    REFSEQ proteins: NP_001034484.3  
    ENSEMBL proteins: 
     ENSP00000420003   ENSP00000418458   ENSP00000417965   ENSP00000371314   ENSP00000417063  
     ENSP00000384342   ENSP00000404277   ENSP00000371319  

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

    SPATA6L for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPATA6L 

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    (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 SPATA6L

    (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
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    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPATA6L
    Search CenterWatch for drugs/clinical trials and news about SPATA6L / SPA6L 

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    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 cDNA 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 

    24/29 AceView cDNA sequences (see all 29):

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

    SPATA6L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGGGCAAG
    SPATA6L Expression
    About this image
    See SPATA6L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA6L

    SOURCE GeneReport for Unigene cluster: Hs.179615
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SPATA6L gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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)
    About This Section
    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, 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

    10/1791 NCBI SNPs in SPATA6L are shown (see all 1791    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
    --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
    --4598648(+) TTGAAA/TGTCAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SPATA6L (4553386 - 4666674 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPATA6L: --

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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
      --

    (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 SPATA6L gene integrated from 9 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. (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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (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. (2002)

    (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: 55064 HGNC: 25472 AceView: C9orf68 Ensembl:ENSG00000106686 euGenes: HUgn55064
    ECgene: SPATA6L H-InvDB: SPATA6L

    (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 SPATA6L 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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