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

C17orf103 Gene

protein-coding   GIFtS: 39
GCID: GC17M021142

chromosome 17 open reading frame 103

 Explore 1 disease affiliated with
C17orf103 via our new
 Human Malady Compendium 
Biological research products
for C17orf103
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 17 Open Reading Frame 1031 2
Gtlf3b1 2
MGC338941
Gene Trap Locus F3b2
Protein GTLF3B2
Transcript Expressed During Hematopoiesis 22

External Ids:    HGNC: 307701   Entrez Gene: 2563022   Ensembl: ENSG000001540357   UniProtKB: Q8N6N63   
ORGUL members:         
NONCODE:n377761    

Export aliases for C17orf103 gene to outside databases

Previous GC identifers: GC17M021082 GC17M020344


(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_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf103 gene promoter:
         CREB   deltaCREB   ATF-2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf103

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf103


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

C17orf103 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf103 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M021142:  view genomic region     (about GC identifiers)

Start:
21,142,183 bp from pter      End:
21,156,722 bp from pter
Size:
14,540 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: GTL3B_HUMAN, Q8N6N6 (See protein sequence)
Recommended Name: Protein GTLF3B  
Size: 113 amino acids; 13032 Da
Secondary accessions: A8MWQ7 B3KX70

Explore the universe of human proteins at neXtProt for C17orf103: NX_Q8N6N6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N6N6

  • C17orf103 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_690878.2  
    ENSEMBL proteins: 
     ENSP00000457007   ENSP00000454565  

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

    C17orf103 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q8N6N6

    ProtoNet protein and cluster: Q8N6N6

    UniProtKB/Swiss-Prot: GTL3B_HUMAN, Q8N6N6
    Similarity: Belongs to the GTLF3B family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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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 C17orf103

    1 Interacting protein for C17orf103 (Q8N6N63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAMTSL4Q6UY143I2D: score=1 
    About this table

    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C17orf103
    Search CenterWatch for drugs/clinical trials and news about C17orf103 / GTL3B 

    (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 C17orf103 gene: 
    NM_152914.2  

    Unigene Cluster for C17orf103:

    Chromosome 17 open reading frame 103
    Hs.654713  [show with all ESTs]
    Unigene Representative Sequence: NM_152914
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468196 ENST00000399011(uc010vzx.2)

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    Additional cDNA sequence: 

    AK126856.1 BC029527.1 BC044645.1 CR749731.1 

    3 DOTS entries:

    DT.315483  DT.99985363  DT.75102504 

    24/288 AceView cDNA sequences (see all 288):

    BC002819 AI434762 BU542436 BF115001 BM712049 CD172380 BM825743 BU169297 
    BM824339 CR623488 W91883 N70947 BQ430679 CR611577 AI360481 BQ447545 
    BU149165 AI421096 AA702837 CK822359 BU732945 CA423011 AA652446 BQ937961 

    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

    C17orf103 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACTCACACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    C17orf103 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneStylopod Long BoneBone
    BoneThoracic RibBone
    BrainMeningesBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See C17orf103 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf103

    SOURCE GeneReport for Unigene cluster: Hs.654713
        SABiosciences Custom PCR Arrays for C17orf103
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf103

    (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 animals.

    Orthologs for C17orf103 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm165151 , 5 predicted gene, Gm165151, 5 90.91(n)1
    94.55(a)1
      11 (37.93 cM)5
    240831  NM_025294.51  NP_079570.11 
     609022465 
    chicken
    (Gallus gallus)
    Aves C14H17orf1031 chromosome 14 open reading frame, human C17orf103 84.24(n)
    96.36(a)
      416497  NM_001030633.1  NP_001025804.1 
    lizard
    (Anolis carolinensis)
    Reptilia C17orf1036
    --
    93(a)
    1 ↔ 1
    GL343385.1(845885-847873)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.38772 Xenopus laevis transcribed sequence with moderate similarity more 77.44(n)    BJ074896.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1107791 zgc:110779 71.65(n)
    75.7(a)
      100002945  NM_001013318.1  NP_001013336.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    26(a)
    1 ↔ 1
    GroupUn.753(55989-56842)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1098.116
    --
    28(a)
    1 ↔ 1
    III(9556513-9557373)


    ENSEMBL Gene Tree for C17orf103 (if available)
    TreeFam Gene Tree for C17orf103 (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, 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

    10/289 NCBI SNPs in C17orf103 are shown (see all 289    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776666551,2
    C,F,--21141775(+) CCCCTG/ACATTA 1 -- ds50011Minor allele frequency- A:0.10WA 118
    rs1498273021,2
    --21141794(+) CTGAAA/GTGCCT 1 -- ds50010--------
    rs126013001,2
    C,F,A,H,--21141892(+) GAAATT/CGGGGA 1 -- ds500125Minor allele frequency- C:0.45NA NS EA WA 2490
    rs1458077721,2
    --21141926(+) TGGAAC/TGCAGT 1 -- ds50010--------
    rs1423571361,2
    --21141946(+) CTGTC-/AAGAGG 1 -- ds50010--------
    rs1490191011,2
    --21142063(+) AGAGAA/CCAAAT 1 -- ds50010--------
    rs1456373681,2
    --21142073(+) TGGCTA/GCAGCC 1 -- ds50010--------
    rs1856384911,2
    --21142102(+) GCTGGA/CGAGAC 1 -- ds50010--------
    rs1476757111,2
    --21142168(+) ACAGAA/CAACCA 1 -- ds50010--------
    rs1423486431,2
    --21142222(+) GTAGCC/TGTAAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C17orf103 (21142183 - 21156722 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C17orf103: --

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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

    C17orf103 for disorders           About GeneDecksing

    1 disease for C17orf103:    About MalaCards
    hematopoiesis


    Export disorders for C17orf103 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 C17orf103 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C17orf103)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 256302 HGNC: 30770 AceView: C17orf35andMGC33894 Ensembl:ENSG00000154035 euGenes: HUgn256302
    ECgene: C17orf103 H-InvDB: C17orf103

    (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 C17orf103 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 C17orf103 gene:
    Search GeneIP for patents involving C17orf103

    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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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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 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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