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C11orf53 Gene

protein-coding   GIFtS: 38
GCID: GC11P111126          (predicted)

Chromosome 11 Open Reading Frame 53

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 11 Open Reading Frame 531 2
Uncharacterized Protein C11orf532

External Ids:    HGNC: 305271   Entrez Gene: 3410322   Ensembl: ENSG000001507507   UniProtKB: Q8IXP53   

Export aliases for C11orf53 gene to outside databases

Previous GC identifers: GC11P110632 GC11P107051


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C11orf53 Gene:
C11orf53 (chromosome 11 open reading frame 53) is a protein-coding gene. Diseases associated with C11orf53 include colorectal cancer.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the C11orf53 gene promoter:
         Oct-B1   oct-B3   oct-B2   Tal-1beta   E47   AREB6   POU2F1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C11orf53

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C11orf53


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

C11orf53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf53 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111126:  view genomic region     (about GC identifiers)

Start:
111,126,707 bp from pter      End:
111,157,126 bp from pter
Size:
30,420 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CK053_HUMAN, Q8IXP5 (See protein sequence)
Recommended Name: Uncharacterized protein C11orf53  
Size: 236 amino acids; 25393 Da

Explore the universe of human proteins at neXtProt for C11orf53: NX_Q8IXP5

Explore proteomics data for C11orf53 at MOPED


See C11orf53 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_940900.1  
ENSEMBL proteins: 
 ENSP00000280325  

C11orf53 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8IXP5


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C11orf53
Interactions:

    Search GeneGlobe Interaction Network for C11orf53

1 Interacting protein for C11orf53 (Q8IXP53) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TRAF6Q9Y4K33I2D: score=1 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C11orf53 (CK053)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C11orf53 gene: 
NM_198498.1  

Unigene Cluster for C11orf53:

Chromosome 11 open reading frame 53
Hs.298685  [show with all ESTs]
Unigene Representative Sequence: NM_198498
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000280325(uc001plc.3)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat C11orf53

Additional mRNA sequence: BC039669.1 

2 DOTS entries:

DT.95303456  DT.75150243 

9 AceView cDNA sequences:

NM_198498 AI005437 BC039669 BI830757 AW138174 BX104309 AI864880 AI240614 
BF188817 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C11orf53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCCTTCCCC
C11orf53 Expression
About this image

C11orf53 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C11orf53 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.298685
    Custom PCR Arrays for C11orf53
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf53

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for C11orf53 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1810046K07Rik1 , 5 RIKEN cDNA 1810046K07 gene1, 5 80.71(n)1
82.55(a)1
  9 (28.05 cM)5
698091  NM_027217.11  NP_081493.11 
 512896865 
lizard
(Anolis carolinensis)
Reptilia C11orf536
chromosome 11 open reading frame 53
39(a)
1 ↔ 1
GL343521.1(385358-400120)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004968341 chromosome unknown open reading frame, human C11orf53 57.18(n)
47.41(a)
  100496834  XM_002932932.2  XP_002932978.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1018846561 uncharacterized LOC101884656 51.02(n)
42.11(a)
  101884656  XM_005157449.1  XP_005157506.1 


ENSEMBL Gene Tree for C11orf53 (if available)
TreeFam Gene Tree for C11orf53 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C11orf53 (see all 691)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1152516741,2
F--107049464(+) AGCACG/ATTTGC 1 -- us2k11Minor allele frequency- A:0.01WA 118
rs1391869911,2
--107049535(+) TCCCCA/TGTTCT 1 -- us2k10--------
rs1915646871,2
--107049698(+) AAAGAA/CGTATT 1 -- us2k10--------
rs1824998061,2
--107049840(+) TTGGAA/GCCTGG 1 -- us2k10--------
rs20017531,2
C,F,O,A,H--107049873(-) AACACC/TGATAC 1 -- us2k126Minor allele frequency- T:0.22NA EA NS WA 2913
rs1141568601,2
C,F--107050226(+) CTCATA/GCGTAC 1 -- us2k11Minor allele frequency- G:0.04WA 118
rs20017541,2
C,F,A,H--107050228(-) ATGTAT/CGTATG 1 -- us2k1113Minor allele frequency- C:0.21NS EA NA PA EU CA WA CSA 6940
rs1860488081,2
--107050266(+) GATGCC/TGAATT 1 -- us2k10--------
rs764400981,2
F--107050430(+) TACAGT/GGTATA 1 -- us2k11Minor allele frequency- G:0.04WA 118
rs1905144061,2
--107050444(+) GCTTTC/GTAGAA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C11orf53 (111126707 - 111157126 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for C11orf53: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C11orf53
DNA2.0 Custom Variant and Variant Library Synthesis for C11orf53

(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.)
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1 disease for C11orf53:    About MalaCards
colorectal cancer


C11orf53 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C11orf53 (1 document)

Export disorders for C11orf53 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)
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PubMed articles for C11orf53 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C11orf53)
    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. (Genome Res. 2004)
  2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  5. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. (PubMed id 18753146)1 Pittman A.M....Houlston R.S. (Hum. Mol. Genet. 2008)
  6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 341032 HGNC: 30527 AceView: MGC50104 Ensembl:ENSG00000150750 euGenes: HUgn341032
ECgene: C11orf53 H-InvDB: C11orf53

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C11orf53 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C11orf53 gene:
Search GeneIP for patents involving C11orf53

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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