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

C11orf49 Gene

protein-coding   GIFtS: 46
GCID: GC11P046915

Chromosome 11 Open Reading Frame 49

  Search for C11orf49
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 11 Open Reading Frame 491 2
UPF0705 Protein C11orf492

External Ids:    HGNC: 287201   Entrez Gene: 790962   Ensembl: ENSG000001491797   UniProtKB: Q9H6J73   

Export aliases for C11orf49 gene to outside databases

Previous GC identifer: GC11P046663


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

GeneCards Summary for C11orf49 Gene: 
C11orf49 (chromosome 11 open reading frame 49) is a protein-coding gene.

Gene Wiki entry for C11orf49 Gene


(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_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C11orf49 gene promoter:
         AhR   AML1a   FOXC1   NF-kappaB2   NF-E2 p45   NF-kappaB   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C11orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C11orf49


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

C11orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf49 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P046915:  view genomic region     (about GC identifiers)

Start:
46,958,240 bp from pter      End:
47,185,936 bp from pter
Size:
227,697 bases      Orientation:
plus 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: CK049_HUMAN, Q9H6J7 (See protein sequence)
Recommended Name: UPF0705 protein C11orf49  
Size: 331 amino acids; 37353 Da
Secondary accessions: D3DQQ8 E9PAX7 Q7L077 Q96CS8 Q9BQH4 Q9BUW5
Alternative splicing: 4 isoforms:  Q9H6J7-1   Q9H6J7-2   Q9H6J7-3   Q9H6J7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C11orf49: NX_Q9H6J7

Explore proteomics data for C11orf49 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6J7

  • C11orf49 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C11orf49 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001003676.1  NP_001003677.1  NP_001003678.1  NP_001265151.1  NP_077018.1  

    ENSEMBL proteins: 
     ENSP00000436595   ENSP00000432186   ENSP00000278460   ENSP00000367881   ENSP00000378844  
     ENSP00000437259   ENSP00000367878   ENSP00000434380   ENSP00000432535   ENSP00000436097  
     ENSP00000436571   ENSP00000433494   ENSP00000433707   ENSP00000437689   ENSP00000438207  

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    Cloud-Clone Corp. Proteins for C11orf49 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    C11orf49 for ontologies           About GeneDecksing



    C11orf49 Antibody Products: 
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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: Q9H6J7

    UniProtKB/Swiss-Prot: CK049_HUMAN, Q9H6J7
    Similarity: Belongs to the UPF0705 family


    (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

    Phenotypes:
         3 GenomeRNAi human phenotypes for C11orf49:
     Cell division defect  Increased S DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C11orf49 
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    SwitchGear 3'UTR luciferase reporter plasmidC11orf49 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf49


    (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 C11orf49

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/15 Interacting proteins for C11orf49 (Q9H6J72, 3 ENSP000003678784) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE3AQ050862, 3, ENSP000003810454MINT-8276369 I2D: score=2 STRING: ENSP00000381045
    ARHGEF15O949893, ENSP000003550264I2D: score=5 STRING: ENSP00000355026
    UBQLN4Q9NRR53, ENSP000003572924I2D: score=3 STRING: ENSP00000357292
    RPS3AP612473, ENSP000003460504I2D: score=4 STRING: ENSP00000346050
    PSMA1P257863I2D: score=5 
    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 C11orf49 (CK049)

    Search CenterWatch for drugs/clinical trials and news about C11orf49 / CK049

    (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 C11orf49 gene (5 alternative transcripts): 
    NM_001003676.2  NM_001003677.2  NM_001003678.2  NM_001278222.1  NM_024113.4  

    Unigene Cluster for C11orf49:

    Chromosome 11 open reading frame 49
    Hs.368296  [show with all ESTs]
    Unigene Representative Sequence: AK124296
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000533124 ENST00000528488 ENST00000525279 ENST00000522712 ENST00000278460(uc001ndp.3 uc010rgx.2 uc010rgy.2 uc010rgz.2)
    ENST00000531648 ENST00000527234 ENST00000378618(uc001nds.3) ENST00000532840
    ENST00000395460(uc001ndq.3 uc001ndr.3) ENST00000532633 ENST00000378615
    ENST00000526424 ENST00000525895 ENST00000527667 ENST00000527784 ENST00000527268
    ENST00000534249
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate C11orf49 (see all 10):
    hsa-miR-3149 hsa-miR-378b hsa-miR-422a hsa-miR-520g hsa-miR-378c hsa-miR-378 hsa-miR-3909 hsa-miR-3616-3p
    SwitchGear 3'UTR luciferase reporter plasmidC11orf49 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK025863.1 AK124296.1 AK293609.1 AK300813.1 AK315639.1 AK316318.1 AL136575.1 BC001860.2 
    BC009455.1 BC013988.2 BC052291.1 CR457351.1 

    24/27 DOTS entries (see all 27):

    DT.86854986  DT.95264263  DT.95299352  DT.100879099  DT.92443236  DT.101962446  DT.92443232  DT.100031495 
    DT.75173920  DT.95212474  DT.95247294  DT.100816194  DT.100816197  DT.120707689  DT.40107271  DT.95264261 
    DT.100816191  DT.100816196  DT.100816198  DT.120707497  DT.120707572  DT.120707619  DT.120707693  DT.95264260 

    24/352 AceView cDNA sequences (see all 352):

    AA706532 BU944619 T35905 CR618684 CA489310 NM_001003678 BC052291 CR619964 
    CA413927 NM_001003676 AI435918 BG385939 AL520568 BQ687067 Z41679 AL544665 
    AI635947 NM_024113 BU943966 BI522592 AA380203 BQ649277 CR600987 BM703074 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C11orf49    About this scheme

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


    ECgene alternative splicing isoforms for C11orf49

    (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

    C11orf49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGGTAAAA
    C11orf49 Expression
    About this image


    See C11orf49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C11orf49

    SOURCE GeneReport for Unigene cluster: Hs.368296
        SABiosciences Custom PCR Arrays for C11orf49
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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 C11orf49 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 1110051M20Rik1 , 5 RIKEN cDNA 1110051M20 gene1, 5 87.81(n)1
    93.66(a)1
      2 (50.63 cM)5
    2283561  NM_175123.41  NP_780332.11 
     912750685 
    chicken
    (Gallus gallus)
    Aves C5H11orf491 chromosome 5 open reading frame, human C11orf49 74.7(n)
    79.27(a)
      423188  XM_421113.3  XP_421113.3 
    lizard
    (Anolis carolinensis)
    Reptilia C11orf496
    chromosome 11 open reading frame 49
    78(a)
    1 ↔ 1
    1(43433545-43572838)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118802 Transcribed sequence with weak similarity to protein more 77.7(n)    BX740832.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:928731 zgc:92873 60.16(n)
    56.4(a)
      436752  NM_001002479.1  NP_001002479.1 


    ENSEMBL Gene Tree for C11orf49 (if available)
    TreeFam Gene Tree for C11orf49 (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

    10/3503 SNPs in C11orf49 are shown (see all 3503)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs669821951,2
    C--46952437(+) GAAAA-/AGAGATA 4 -- int10--------
    rs710426391,2
    C--46956335(-) GTCTC-/AAAAAA 4 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1847614931,2
    --46956384(+) GTGTCA/GCCCAG 4 -- us2k10--------
    rs3680349261,2
    C--46956408(+) GGTGCA/GTCTTG 4 -- us2k10--------
    rs1877011561,2
    --46956437(+) CCTCCC/TCGGTT 4 -- us2k10--------
    rs1929572351,2
    --46956439(+) TCCCCA/GGTTCA 4 -- us2k10--------
    rs1852667971,2
    --46956445(+) GTTCAA/CGTGAT 4 -- us2k10--------
    rs122733331,2
    C,F,H--46956641(+) TAGCTA/GCAAGT 4 -- us2k111Minor allele frequency- G:0.29NS EA NA WA CSA 536
    rs122248311,2
    C,F,A,H--46956711(+) AAATAA/GTAAAA 4 -- us2k1 tfbs312Minor allele frequency- G:0.13NS EA NA WA CSA 661
    rs122866531,2
    C,F,H--46956784(+) GAAGGC/AAATTA 4 -- us2k18Minor allele frequency- A:0.02NS EA NA WA CSA 294

    HapMap Linkage Disequilibrium report for C11orf49 (46958240 - 47185936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for C11orf49 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675104CNV Deletion23128226
    esv2542584CNV Deletion19546169
    esv2744435CNV Deletion23290073
    esv998583CNV Deletion20482838
    esv4508CNV Deletion18987735
    nsv821175CNV Deletion20802225
    esv2661994CNV Deletion23128226
    nsv313CNV Insertion18451855
    nsv508627CNV Loss20534489
    nsv526628CNV Loss19592680

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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

    C11orf49 for disorders           About MalaCards

    C11orf49 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C11orf49
    Human Genome Epidemiology (HuGE) Navigator: C11orf49 (1 document)

    Export disorders for C11orf49 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 C11orf49 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with C11orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic predictors of fibrin D-dimer levels in health y adults. (PubMed id 21502573)1, 4 Smith N.L....Hayward C. (2011)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 2 Bonaldo M.F.... Soares M.B. (1996)
    6. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (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: 79096 HGNC: 28720 AceView: MGC4707 Ensembl:ENSG00000149179 euGenes: HUgn79096
    ECgene: C11orf49 H-InvDB: C11orf49

    (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 C11orf49 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 C11orf49 gene:
    Search GeneIP for patents involving C11orf49

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



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