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

SPAG17 Gene

protein-coding   GIFtS: 43
GCID: GC01M118496

Sperm Associated Antigen 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)
About This Section

Aliases
Sperm Associated Antigen 171 2
Projection Protein PF6 Homolog2 3
PF62
RP4-776P7.22
Sperm-Associated Antigen 172

External Ids:    HGNC: 266201   Entrez Gene: 2001622   Ensembl: ENSG000001557617   UniProtKB: Q6Q7593   

Export aliases for SPAG17 gene to outside databases

Previous GC identifers: GC01M118209 GC01M118297 GC01M116352


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

GeneCards Summary for SPAG17 Gene: 
SPAG17 (sperm associated antigen 17) is a protein-coding gene. Diseases associated with SPAG17 include crohn's disease, and thyroid cancer.

UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759
Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAG17 gene promoter:
         TBP   Pbx1a   NCX/Ncx   Nkx2-5   HNF-3beta   Cdc5   Meis-1b   Roaz   S8   Meis-1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG17 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPAG17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG17


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

SPAG17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG17 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M118496:  view genomic region     (about GC identifiers)

Start:
118,496,288 bp from pter      End:
118,727,848 bp from pter
Size:
231,561 bases      Orientation:
minus 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: SPG17_HUMAN, Q6Q759 (See protein sequence)
Recommended Name: Sperm-associated antigen 17  
Size: 2223 amino acids; 251742 Da
Subunit: Interacts (via the C-terminus) with SPAG6; the interaction probably occurs on polymerized microtubules
(By similarity)
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, flagellum axoneme (By similarity).
Note=Detected in the cytoplasm of round spermatids and in condensing spermatids. Localized to the central pair of
the sperm flagellar axoneme. Colocalizes with SPAG6 on microtubules (By similarity)
Secondary accessions: Q8NAZ1 Q9NT21

Explore the universe of human proteins at neXtProt for SPAG17: NX_Q6Q759

Explore proteomics data for SPAG17 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6Q759

  • SPAG17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPAG17 Protein Expression
    REFSEQ proteins: NP_996879.1  
    ENSEMBL proteins: 
     ENSP00000337804   ENSP00000402749  

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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005874microtubule IEA--
    GO:0005929cilium ----

    SPAG17 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026173 SPAG17

    Graphical View of Domain Structure for InterPro Entry Q6Q759

    ProtoNet protein and cluster: Q6Q759


    SPAG17 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,
    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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPG17_HUMAN, Q6Q759
    Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (By
    similarity)

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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPAG17

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

    1 Interacting protein for SPAG17 (Q6Q7593 ENSP000003378044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPAG6O756023, ENSP000003658114I2D: score=1 STRING: ENSP00000365811
    About this table

    (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 SPAG17 (SPG17)

    Search CenterWatch for drugs/clinical trials and news about SPAG17 / SPG17

    (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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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPAG17 gene: 
    NM_206996.2  

    Unigene Cluster for SPAG17:

    Sperm associated antigen 17
    Hs.528821  [show with all ESTs]
    Unigene Representative Sequence: NM_206996
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466857 ENST00000478697 ENST00000336338(uc021oss.1 uc001ehk.2)
    ENST00000469128 ENST00000437255(uc021osr.1) ENST00000492438 ENST00000483383
    ENST00000470550 ENST00000486589 ENST00000477444 ENST00000473472 ENST00000463628
    ENST00000465053
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    Additional mRNA sequence: 

    AK055194.1 AK091816.1 AK126319.1 AK126327.1 AL137581.1 AL833485.1 AY555274.1 BC043251.1 
    BX648110.1 HM370394.1 

    9 DOTS entries:

    DT.206431  DT.40117863  DT.95260087  DT.423063  DT.75167734  DT.40299735  DT.99996169  DT.121463804 
    DT.40122681 

    24/46 AceView cDNA sequences (see all 46):

    AI015914 AW628528 BX282504 AA608775 AY555274 AK126319 AL137581 BG195042 
    AK126327 AW976069 AA970955 BU101789 AI791173 BM983923 BX282623 AW104397 
    NM_206996 AI635670 BQ013718 AI806349 AI871833 AA669516 AL042513 H69836 

    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

    SPAG17 expression in normal human tissues (normalized intensities)      SPAG17 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCGTAAAG
    SPAG17 Expression
    About this image


    SPAG17 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
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Lung (Respiratory System)

    See SPAG17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPAG17

    SOURCE GeneReport for Unigene cluster: Hs.528821

    UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759
    Tissue specificity: Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including
    brain, oviduct, lung, and uterus

        SABiosciences Custom PCR Arrays for SPAG17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG17

    (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 SPAG17 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spag171 , 5 sperm associated antigen 171, 5 78.7(n)1
    73.15(a)1
      3 (43.25 cM)5
    743621  NM_028892.41  NP_083168.31 
     998854065 
    chicken
    (Gallus gallus)
    Aves SPAG171 sperm associated antigen 17 60.18(n)
    50.95(a)
      418315  XM_416538.3  XP_416538.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPAG176
    sperm associated antigen 17
    47(a)
    1 ↔ 1
    GL343218.1(775082-872424)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-208b23.51 si:dkey-208b23.5 52.36(n)
    40.74(a)
      561115  XM_684518.4  XP_689610.4 


    ENSEMBL Gene Tree for SPAG17 (if available)
    TreeFam Gene Tree for SPAG17 (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

    10/4093 SNPs in SPAG17 are shown (see all 4093)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0428674
    A colorectal cancer sample4--see VAR_0428672 D E mis40--------
    rs1872837421,2
    --118503557(+) TTTTTA/CATCTG 1 -- int10--------
    rs726975561,2
    C,F--118503584(+) TTCAGA/GTCTCC 1 -- int11Minor allele frequency- G:0.03NA 120
    rs1465136281,2
    C--118503766(+) CTGGGC/TGTGGT 1 -- int10--------
    rs1901287621,2
    --118503777(+) GGCAGA/GCGCTT 1 -- int10--------
    rs781293911,2
    C--118503821(+) GAATCG/ACTTGA 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs75227391,2
    C,F--118503830(+) gaaccC/Tggcag 1 -- int11Minor allele frequency- T:0.50WA 2
    rs774834011,2
    C,F--118503837(+) GCAGGC/TGGAGA 1 -- int12Minor allele frequency- T:0.07WA 120
    rs1118995091,2
    C,F--118503860(+) AAGACA/GGTGCC 1 -- int12Minor allele frequency- G:0.07CSA WA 120
    rs1511854961,2
    --118503912(+) CAAAAC/TAATAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPAG17 (118496288 - 118727848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPAG17:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2608205CNV Deletion19546169
    esv2716696CNV Deletion23290073
    esv2716707CNV Deletion23290073
    esv34191CNV Loss18971310
    nsv528470CNV Loss19592680
    nsv872167CNV Loss21882294
    esv5742CNV Gain19470904


    Human Gene Mutation Database (HGMD): SPAG17
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SPAG17

    (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
    3 diseases for SPAG17:    About MalaCards
    crohn's disease    thyroid cancer    thyroiditis


    SPAG17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPAG17
    Human Genome Epidemiology (HuGE) Navigator: SPAG17 (6 documents)

    Export disorders for SPAG17 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 SPAG17 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with SPAG17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    2. Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (2010)
    3. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)1, 4 Lee J.J....Hirschhorn J. (2010)
    4. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)1, 4 Sovio U....Jarvelin M.R. (2009)
    5. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (2008)
    6. Strong association of chromosome 1p12 loci with thyroid cancer susceptibility. (PubMed id 18559567)1, 4 Baida A....Velazquez A. (2008)
    7. Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16. (PubMed id 15827353)1, 2 Zhang Z.... Strauss J.F. III (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Genome-wide meta-analysis identifies 11 new loci for a nthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (2013)
    10. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)

    (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: 200162 HGNC: 26620 AceView: PF6 Ensembl:ENSG00000155761 euGenes: HUgn200162
    ECgene: SPAG17 H-InvDB: SPAG17

    (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 SPAG17 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 SPAG17 gene:
    Search GeneIP for patents involving SPAG17

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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