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

C17orf49 Gene

protein-coding   GIFtS: 42
GCID: GC17P006918

Chromosome 17 Open Reading Frame 49

  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

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 491 2     BAP182
BPTF Associated Protein Of 18 KDa1 2     HEPIS2
Human Embryo Lung Cellular Protein Interacting With SARS-CoV Nsp-101 2     Chromatin Complexes Subunit BAP182
BPTF-Associated Protein Of 18 KDa2 3     MLL1/MLL Complex Subunit C17orf492

External Ids:    HGNC: 287371   Entrez Gene: 1249442   Ensembl: ENSG000002583157   UniProtKB: Q8IXM23   
ORGUL members:         
NONCODE14:n410549 n410550 n410548      

Export aliases for C17orf49 gene to outside databases

Previous GC identifer: GC17P006861


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

GeneCards Summary for C17orf49 Gene: 
C17orf49 (chromosome 17 open reading frame 49) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with C17orf49 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. GO annotations related to this gene include chromatin binding and DNA binding. An important paralog of this gene is RNASEK-C17orf49.

UniProtKB/Swiss-Prot: BAP18_HUMAN, Q8IXM2
Function: Component of chromatin complexes such as the MLL1/MLL and NURF complexes




(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_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf49 gene promoter:
         E2F-4   E2F-3a   E2F-5   Spz1   Nkx2-5   E2F-2   POU3F2   AREB6   E2F   E2F-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf49


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

C17orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf49 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P006918:  view genomic region     (about GC identifiers)

Start:
6,917,814 bp from pter      End:
6,920,844 bp from pter
Size:
3,031 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C17orf49

(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: BAP18_HUMAN, Q8IXM2 (See protein sequence)
Recommended Name: Chromatin complexes subunit BAP18  
Size: 172 amino acids; 17900 Da
Subunit: Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L,
HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1,
LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4,
TAF6, TAF7, TAF9 and TEX10. Component of the nucleosome-remodeling factor (NURF) complex
Subcellular location: Nucleus (Potential)
Secondary accessions: B4DIV3 C9J4G0 E9PB29
Alternative splicing: 3 isoforms:  Q8IXM2-1   Q8IXM2-2   Q8IXM2-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for C17orf49: NX_Q8IXM2

Explore proteomics data for C17orf49 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IXM2

  • C17orf49 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C17orf49 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001136270.1  NP_001136271.1  NP_777553.1  

    ENSEMBL proteins: 
     ENSP00000448598   ENSP00000447646   ENSP00000448746   ENSP00000411851   ENSP00000447063  
     ENSP00000468587  

    Human Recombinant Protein Products for C17orf49: 
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    Novus Biologicals C17orf49 Proteins
    Novus Biologicals C17orf49 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016589NURF complex IDA--
    GO:0071339MLL1 complex IDA15960975

    C17orf49 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
    2 InterPro protein domains:
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q8IXM2

    ProtoNet protein and cluster: Q8IXM2

    UniProtKB/Swiss-Prot: BAP18_HUMAN, Q8IXM2
    Similarity: Contains 1 SANT domain


    C17orf49 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: BAP18_HUMAN, Q8IXM2
    Function: Component of chromatin complexes such as the MLL1/MLL and NURF complexes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
         
    C17orf49 for ontologies           About GeneDecksing


    Animal Models:
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate C17orf49:
    hsa-miR-3163 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC17orf49 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf49


    (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 C17orf49

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/42 Interacting proteins for C17orf49 (Q8IXM23 ENSP000004118514) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    ENSG00000235068Q018603I2D: 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:0016568chromatin modification IEA--

    C17orf49 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 C17orf49 (BAP18)

    Search CenterWatch for drugs/clinical trials and news about C17orf49 / BAP18

    (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 C17orf49 gene (3 alternative transcripts): 
    NM_001142798.2  NM_001142799.2  NM_174893.3  

    Unigene Cluster for C17orf49:

    Chromosome 17 open reading frame 49
    Hs.511801  [show with all ESTs]
    Unigene Representative Sequence: NR_037717
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546495 ENST00000546760 ENST00000549857 ENST00000552402 ENST00000439424
    ENST00000552775 ENST00000550038 ENST00000547747 ENST00000547709
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate C17orf49:
    hsa-miR-3163 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC17orf49 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C17orf49

    Additional mRNA sequence: 

    AK295795.1 BC040036.1 NR_037717.1 

    13 DOTS entries:

    DT.91683782  DT.417908  DT.87015907  DT.100038061  DT.100035390  DT.120994270  DT.92429409  DT.95276523 
    DT.100763831  DT.102826650  DT.100763830  DT.120994320  DT.417909 

    24/545 AceView cDNA sequences (see all 545):

    AW161124 BU626017 R66527 AI867829 AI458825 AW025818 AA055293 AA342936 
    AA907236 AI829899 AJ713634 H24777 AJ706225 CR618891 AI767547 CR607998 
    AA622678 BQ950145 AA953158 C02134 AA931153 AA976549 BM694510 AI183273 

    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

    C17orf49 expression in normal human tissues (normalized intensities)      C17orf49 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGACCTGT
    C17orf49 Expression
    About this image


    C17orf49 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Testis (Reproductive System)

     -- (Reproductive System)
             visceral organ   

    See C17orf49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf49

    SOURCE GeneReport for Unigene cluster: Hs.511801
        SABiosciences Custom PCR Arrays for C17orf49
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf49

    (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 C17orf49 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610010K14Rik1 , 5 RIKEN cDNA 0610010K14 gene1, 5 91.62(n)1
    94.76(a)1
      11 (42.99 cM)5
    1044571  NM_001177601.11  NP_001171072.11 
     702352065 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238372 Xenopus laevis transcribed sequences 75.23(n)    CB563610.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005348651 chromatin complexes subunit BAP18-like 70(n)
    74.21(a)
      100534865  XM_003199343.1  XP_003199391.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG336956
    --
    22(a)
    1 → many
    2L(11269727-11279847)
    worm
    (Caenorhabditis elegans)
    Secernentea Y43F8C.66
    Protein Y43F8C.6, isoform a
    12(a)
    1 → many
    V(19633062-19640908)


    ENSEMBL Gene Tree for C17orf49 (if available)
    TreeFam Gene Tree for C17orf49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C17orf49 gene
    RNASEK-C17orf492  
    2 SIMAP similar genes for C17orf49 using alignment to 3 protein entries:     F8W038_HUMAN (see all proteins):
    BAP18    RNASEK-C17orf49

    C17orf49 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
    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C17orf49:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422288CNV Deletion17116639
    nsv457659CNV Loss19166990
    nsv907634CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C17orf49
    DNA2.0 Custom Variant and Variant Library Synthesis for C17orf49

    (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
    2 diseases for C17orf49:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    C17orf49 for disorders           About GeneDecksing


    Export disorders for C17orf49 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 C17orf49 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with C17orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Quantitative interaction proteomics and genome-wide p rofiling of epigenetic histone marks and their readers. (PubMed id 20850016)1, 2 Vermeulen M....Mann M. (2010)
    2. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1, 2 Brandenberger R.... Stanton L.W. (2004)
    6. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Identification and characterization of a novel human PP1 phosphatase complex. (PubMed id 20516061)1 Lee J.H....Skalnik D.G. (2010)
    9. 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)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)

    (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: 124944 HGNC: 28737 AceView: MGC49942andMGC71993 Ensembl:ENSG00000258315 euGenes: HUgn124944
    ECgene: C17orf49 H-InvDB: C17orf49

    (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 C17orf49 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 C17orf49 gene:
    Search GeneIP for patents involving C17orf49

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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