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

C17orf49 Gene

protein-coding   GIFtS: 44
GCID: GC17P006918

chromosome 17 open reading frame 49

 Explore 2 diseases affiliated with
C17orf49 via our new
 Human Malady Compendium 
Biological research products
for C17orf49
    

(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 491 2     BPTF Associated Protein Of 18 KDa2
BAP181 2     Chromatin Complexes Subunit BAP182
HEPIS1 2     Human Embryo Lung Cellular Protein Interacting With SARS-CoV Nsp-102
BPTF-Associated Protein Of 18 KDa2 3     MLL1/MLL Complex Subunit C17orf492
MGC499421     

External Ids:    HGNC: 287371   Entrez Gene: 1249442   Ensembl: ENSG000001619397   UniProtKB: Q8IXM23   
ORGUL members:         
NONCODE:n410550 n410548 n410549    

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

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 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 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:
6,915,954 bp from pter      End:
6,920,839 bp from pter
Size:
4,886 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

  • n410549
  • n410548
  • n410550
6915735 6918289 6920843 chr17

(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: 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 MLL, 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 E9PB29
Alternative splicing: 2 isoforms:  Q8IXM2-1   Q8IXM2-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXM2

  • C17orf49 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000450085  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C17orf49

    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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    Uscn ELISAs and CLIAs for C17orf49


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

    C17orf49 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (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

    Function Summary:

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

    miRNA
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    hsa-miR-3163 hsa-miR-4257
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    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



    (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 C17orf49

    2 Interacting proteins for C17orf49 (Q8IXM23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POU5F1Q018603I2D: score=1 
    WDR82Q6UXN93I2D: 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, 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
    Search CenterWatch for drugs/clinical trials and news about C17orf49 / BAP18 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000549775(uc002gea.3 uc002gec.3) ENST00000552176(uc021tow.1)
    ENST00000547863(uc002ged.3 uc010vti.2) ENST00000547302

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    Additional cDNA sequence: 

    AK295795.1 BC040036.1 NR_037717.1 

    12 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 

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

    BU730728 AA436860 AA651826 AW161124 AA287630 AJ713634 BM694510 AA907236 
    CR600192 AA974927 AK055800 R82586 AW470137 AI867829 C02134 BQ950145 
    AA588021 BM991218 R66527 H22336 AI460079 AI568306 CR607998 AA282509 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf49 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                          -     -                                                         
    SP4:                                            -                                             
    SP5:                                                                                          


    ECgene alternative splicing isoforms for C17orf49

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGGACCTGT

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

    About this image

    C17orf49 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosReproductive System
    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 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:
     

     
    Search Advanced Cell Diagnostics for 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 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    14(a)
    1 → many
    V(19633032-19640878)


    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
      --

    (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

    10/72 NCBI SNPs in C17orf49 are shown (see all 72    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437778401,2
    --6916268(+) GTGAAA/GCCCCG 8 -- int1 us2k10--------
    rs1896666491,2
    --6916392(+) TGAGCC/TGAGAT 8 -- us2k1 int10--------
    rs1481388091,2
    --6916430(+) CAGAGA/CGAGAC 8 -- us2k1 int10--------
    rs1820668071,2
    --6916455(+) AAAAGA/CAAAAA 8 -- int1 us2k10--------
    rs3124631,2
    C,F,H,--6916549(-) TCAGGA/C/TACCCC 8 -- int1 us2k116NA WA CSA EA 491
    rs1878695271,2
    --6916671(+) AATGAC/TATGAA 8 -- int1 nc-transcript-variantus2k10--------
    rs1918671581,2
    --6916821(+) CACCTC/TACGCC 8 -- int1 nc-transcript-variantus2k10--------
    rs773819851,2
    --6916920(+) GGAGGG/TGTTTA 8 -- int1 us2k11Minor allele frequency- T:0.01WA 118
    rs792850971,2
    F,--6917299(+) TCAGTC/ACACCT 8 -- int1 us2k11Minor allele frequency- A:0.05WA 118
    rs571771261,2
    C,F,--6917431(+) ATTAAA/TGTTTG 8 -- int1 us2k13Minor allele frequency- T:0.08WA CSA 122

    HapMap Linkage Disequilibrium report for C17orf49 (6915954 - 6920839 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C17orf49: --

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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

    C17orf49 for disorders           About GeneDecksing

    2 diseases for C17orf49:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    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)
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    (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:ENSG00000161939 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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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