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

C17orf75 Gene

protein-coding   GIFtS: 43
GCID: GC17M030658

Chromosome 17 Open Reading Frame 75

  Search for C17orf75
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
Chromosome 17 Open Reading Frame 751 2
NJMU-R12
Protein Njmu-R12
Spermatogenesis-Related Protein2

External Ids:    HGNC: 301731   Entrez Gene: 641492   Ensembl: ENSG000001086667   UniProtKB: Q9HAS03   

Export aliases for C17orf75 gene to outside databases

Previous GC identifers: GC17M027683 GC17M026845


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

GeneCards Summary for C17orf75 Gene: 
C17orf75 (chromosome 17 open reading frame 75) is a protein-coding gene. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: NJMU_HUMAN, Q9HAS0
Function: May have a role in spermatogenesis




(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_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf75 gene promoter:
         HOXA9   Pax-2   Pax-2a   AP-4   Ik-3   LCR-F1   CREB   Pax-2b   POU2F1   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf75

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf75


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

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

C17orf75 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf75 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M030658:  view genomic region     (about GC identifiers)

Start:
30,651,584 bp from pter      End:
30,677,042 bp from pter
Size:
25,459 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: NJMU_HUMAN, Q9HAS0 (See protein sequence)
Recommended Name: Protein Njmu-R1  
Size: 396 amino acids; 44622 Da
Sequence caution: Sequence=AAG23214.1; Type=Frameshift; Positions=362;
Secondary accessions: Q7Z2H4

Explore the universe of human proteins at neXtProt for C17orf75: NX_Q9HAS0

Explore proteomics data for C17orf75 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAS0

  • C17orf75 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C17orf75 Protein Expression
    REFSEQ proteins: NP_071739.2  
    ENSEMBL proteins: 
     ENSP00000462873   ENSP00000464275   ENSP00000464416   ENSP00000464759   ENSP00000462127  
     ENSP00000464845   ENSP00000463184   ENSP00000468451   ENSP00000225805  

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    Cloud-Clone Corp. Proteins for C17orf75 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    C17orf75 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

    ProtoNet protein and cluster: Q9HAS0


    (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: NJMU_HUMAN, Q9HAS0
    Function: May have a role in spermatogenesis

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    C17orf75 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for C17orf75:
     Decreased Salmonella enterica   Gemcitabine induced cell-death  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C17orf75 
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    SwitchGear 3'UTR luciferase reporter plasmidC17orf75 3' UTR sequence
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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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C17orf75

    2 Interacting proteins for C17orf75 (Q9HAS03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPL1Q9H0R83I2D: score=1 
    WIPI2Q9Y4P83I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis NAS--

    C17orf75 for ontologies           About GeneDecksing



    (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 C17orf75 (NJMU)

    Search CenterWatch for drugs/clinical trials and news about C17orf75 / NJMU

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C17orf75 gene: 
    NM_022344.3  

    Unigene Cluster for C17orf75:

    Chromosome 17 open reading frame 75
    Hs.655257  [show with all ESTs]
    Unigene Representative Sequence: NM_022344
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583104 ENST00000577809(uc002hhg.3) ENST00000582961 ENST00000580558
    ENST00000583774 ENST00000581747 ENST00000578215 ENST00000583221 ENST00000583334
    ENST00000582073 ENST00000580485 ENST00000580294 ENST00000225805
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    hsa-miR-323-3p hsa-miR-607 hsa-miR-146a hsa-miR-3653 hsa-miR-3921 hsa-miR-105 hsa-miR-10b* hsa-miR-223
    SwitchGear 3'UTR luciferase reporter plasmidC17orf75 3' UTR sequence
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    Additional mRNA sequence: 

    AB062437.1 AF052093.1 AF305686.1 BC026017.2 BC035715.1 BC047325.1 BC054035.1 

    16 DOTS entries:

    DT.97768150  DT.100744983  DT.100744985  DT.453479  DT.120901003  DT.95159872  DT.100695220  DT.112050 
    DT.91886036  DT.92427108  DT.86839290  DT.95268371  DT.120900987  DT.217110  DT.217113  DT.40115544 

    24/136 AceView cDNA sequences (see all 136):

    AA886863 AI262114 AA206776 AA252507 BM976466 AA411708 BE674239 CN480580 
    AA195290 NM_022344 AA699397 BU176716 CA307483 BM452519 AL521618 BQ012566 
    BC054035 AI697061 AI470795 AA554002 AA699793 CA776040 BE467546 AB062437 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf75    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                -                       -     -                                             
    SP2:        -     -                 -                                                                           
    SP3:                                -     -                 -     -                                             
    SP4:                                -                                                                           
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for C17orf75

    (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

    C17orf75 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGAAGCTC
    C17orf75 Expression
    About this image


    See C17orf75 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf75

    SOURCE GeneReport for Unigene cluster: Hs.655257

    UniProtKB/Swiss-Prot: NJMU_HUMAN, Q9HAS0
    Tissue specificity: Highly expressed in testis and also expressed in fetal testis

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    In Situ
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    (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 C17orf75 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 5730455P16Rik1 , 5 RIKEN cDNA 5730455P16 gene1, 5 89.29(n)1
    90.05(a)1
      11 (47.80 cM)5
    705911  NM_027472.31  NP_081748.11 
     803604935 
    chicken
    (Gallus gallus)
    Aves C18H17orf751 chromosome 18 open reading frame, human C17orf75 73.39(n)
    73.21(a)
      417412  XM_415664.3  XP_415664.2 
    lizard
    (Anolis carolinensis)
    Reptilia C17ORF756
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343198.1(1806711-1823123)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37852 Xenopus laevis transcribed sequence with weak similarity more 76.07(n)    BJ618144.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj62a012 Transcribed sequence with weak similarity to protein more 73.63(n)    57077937 


    ENSEMBL Gene Tree for C17orf75 (if available)
    TreeFam Gene Tree for C17orf75 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C17orf75 gene
    1 SIMAP similar gene for C17orf75 using alignment to 9 protein entries:     NJMU_HUMAN (see all proteins):
    OK/SW-cl.19

    C17orf75 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) 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

    10/315 SNPs in C17orf75 are shown (see all 315)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs751339841,2
    F--30655126(+) AAGCCC/TGCAGG 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1897881901,2
    --30655134(+) AGGCTG/TTCCTG 1 -- int10--------
    rs23449741,2
    A--30655160(+) GATCCA/TCTGGT 1 -- int10--------
    rs1428638621,2
    --30655246(+) GTATAA/TCTCTA 1 -- int10--------
    rs1817634811,2
    --30655567(+) GCACAC/TAAGTA 1 -- ut310--------
    rs1510745181,2
    --30655640(+) CACAGC/TGGCTC 1 -- ut310--------
    rs1410434551,2
    --30655673(+) GGGAGA/GCCAAG 1 -- ut310--------
    rs1872099571,2
    --30655741(+) CGTCTC/GTACTA 1 -- ut310--------
    rs1133662741,2
    C--30655927(+) AAAAC-/AAAAAA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs72142111,2
    C,F,H--30656050(+) CACCAT/CTTTCC 1 -- ut318Minor allele frequency- C:0.12NS NA WA 1088

    HapMap Linkage Disequilibrium report for C17orf75 (30651584 - 30677042 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C17orf75:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908069CNV Gain21882294
    nsv908068CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (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
      --

    (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 C17orf75 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with C17orf75)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    5. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    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. (2002)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 64149 HGNC: 30173 AceView: NJMU-R1 Ensembl:ENSG00000108666 euGenes: HUgn64149
    ECgene: C17orf75 H-InvDB: C17orf75

    (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 C17orf75 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 C17orf75 gene:
    Search GeneIP for patents involving C17orf75

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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