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C11orf1 Gene

protein-coding   GIFtS: 45
GCID: GC11P111749

Chromosome 11 Open Reading Frame 1

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(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 11 2
UPF0686 Protein C11orf12
AKIP15
BCA35
C11orf175

External Ids:    HGNC: 11631   Entrez Gene: 647762   Ensembl: ENSG000001377207   OMIM: 6091915   UniProtKB: Q9H5F23   

Export aliases for C11orf1 gene to outside databases

Previous GC identifers: GC11U990011 GC11P111783 GC11P111287 GC11P111255 GC11P107673


(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 C11orf1 Gene:
C11orf1 (chromosome 11 open reading frame 1) is a protein-coding gene.

Gene Wiki entry for C11orf1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the C11orf1 gene promoter:
         RP58   p53   Nkx2-2   NF-AT   FOXL1   Gfi-1   POU2F1   POU2F1a   NF-AT1   En-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C11orf1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C11orf1


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

C11orf1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111749:  view genomic region     (about GC identifiers)

Start:
111,749,659 bp from pter      End:
111,756,699 bp from pter
Size:
7,041 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CK001_HUMAN, Q9H5F2 (See protein sequence)
Recommended Name: UPF0686 protein C11orf1  
Size: 150 amino acids; 17785 Da
Secondary accessions: Q6I9X7 Q9NQC6

Explore the universe of human proteins at neXtProt for C11orf1: NX_Q9H5F2

Explore proteomics data for C11orf1 at MOPED


See C11orf1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_073598.1  
ENSEMBL proteins: 
 ENSP00000433224   ENSP00000260276   ENSP00000435864   ENSP00000432128   ENSP00000431180  

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antibodies-online peptides for C11orf1

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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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1 InterPro protein domain:
 IPR009524 UPF0686

Graphical View of Domain Structure for InterPro Entry Q9H5F2

ProtoNet protein and cluster: Q9H5F2

UniProtKB/Swiss-Prot: CK001_HUMAN, Q9H5F2
Similarity: Belongs to the UPF0686 family


Find genes that share domains with C11orf1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
Find genes that share ontologies with C11orf1           About GenesLikeMe


Phenotypes:
     3 GenomeRNAi human phenotypes for C11orf1:
 Decreased homologous recombina  G0/1 arrest  Increased G1 DNA content 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C11orf1

miRNA
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hsa-mir-1226-3p (MIRT036485)

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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 UniProtKB/Swiss-Prot
CK001_HUMAN, Q9H5F2: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
mitochondrion2
cytosol1
extracellular1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus NAS10873569

Find genes that share ontologies with C11orf1           About GenesLikeMe


(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 C11orf1
Interactions:

    Search GeneGlobe Interaction Network for C11orf1

1 Interacting protein for C11orf1 (Q9H5F22, 3) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
SETDB1Q150472, 3MINT-65498 I2D: score=5 
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

Find genes that share ontologies with C11orf1           About GenesLikeMe



(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 C11orf1 (CK001)



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C11orf1 gene: 
NM_022761.2  

Unigene Cluster for C11orf1:

Chromosome 11 open reading frame 1
Hs.17546  [show with all ESTs]
Unigene Representative Sequence: BC036892
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000528125 ENST00000260276(uc001pmd.3) ENST00000530214 ENST00000530799
ENST00000529270(uc001pme.3)
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  QuantiFast Probe-based Assays in human, mouse, rat C11orf1

Additional mRNA sequence: 

AJ250229.1 BC020628.1 BC036892.1 CR457378.1 

6 DOTS entries:

DT.91645367  DT.442967  DT.99928408  DT.95069623  DT.120750594  DT.99980981 

Selected AceView cDNA sequences (see all 103):

W92083 AI150481 AI056306 AA977371 BC020628 BU169598 AA995558 AA769483 
AI301347 BI759761 AI041912 AI631261 AA494433 AI222999 AI718812 AI283564 
AA027851 BM749417 AA515261 AI077960 AI860975 BQ007460 AI079123 AI304452 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C11orf1    About this scheme

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


ECgene alternative splicing isoforms for C11orf1

(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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C11orf1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATAGCTATT
C11orf1 Expression
About this image

C11orf1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C11orf1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.17546
    Custom PCR Arrays for C11orf1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf1

(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 C11orf1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1110032A03Rik1 , 5 RIKEN cDNA 1110032A03 gene1, 5 83.67(n)1
79.19(a)1
  9 (27.75 cM)5
687211  NM_023483.31  NP_075972.21 
 507628285 
chicken
(Gallus gallus)
Aves C24H11ORF11 chromosome 24 open reading frame, human C11orf1 65.55(n)
64.71(a)
  419799  XM_417936.4  XP_417936.1 
lizard
(Anolis carolinensis)
Reptilia C11orf16
chromosome 11 open reading frame 1
58(a)
1 ↔ 1
GL343521.1(34797-37053)
zebrafish
(Danio rerio)
Actinopterygii LOC7972031 UPF0686 protein C11orf1 homolog 57.07(n)
52.27(a)
  797203  XM_005165565.1  XP_005165622.1 


ENSEMBL Gene Tree for C11orf1 (if available)
TreeFam Gene Tree for C11orf1 (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 C11orf1 (see all 90)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1431455291,2
C--111752358(+) AAGTC-/AGGGGGC 1 -- int10--------
rs1922006231,2
--111752418(+) AAAAAA/GATGAA 1 -- int10--------
rs1823824581,2
--111752445(+) CTGGTA/GTATGC 1 -- int10--------
rs1386199021,2
--111752547(+) GGAGAC/TATAAT 1 -- int10--------
rs1507258191,2
--111752738(+) GTTCTC/TTTTGA 1 -- int10--------
rs1383102701,2
--111752854(+) TTCACA/GGGGCC 1 -- int10--------
rs2006070831,2
--111753071(+) GCTTTA/TCTATT 1 -- int10--------
rs3763480161,2
C--111753122(+) CAAACA/CCACAC 2 T P mis10--------
rs92801,2,,4
H--111753165(+) TGAAGT/CGTGGA 2 /A /V mis1 ese310Minor allele frequency- C:0.00NA EA MN NS 846
rs115407211,2,,4
C,F,H--111753191(-) AAACTT/GGGACA 2 /K /Q mis17Minor allele frequency- G:0.01NS EA NA EU 6397

HapMap Linkage Disequilibrium report for C11orf1 (111749659 - 111756699 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C11orf1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv832269CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for C11orf1

(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.)
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OMIM gene information: 609191    OMIM disorders: --


Find genes that share disorders with C11orf1           About GenesLikeMe


Export disorders for C11orf1 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 C11orf1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C11orf1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of five novel human genes in the 11q13-q22 region. (PubMed id 10873569)1, 2, 3 O'Brien K.P....Dumanski J.P. (Biochem. Biophys. Res. Commun. 2000)
  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. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
  5. 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)
  6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 64776 HGNC: 1163 AceView: C11orf1 Ensembl:ENSG00000137720 euGenes: HUgn64776
ECgene: C11orf1 H-InvDB: C11orf1

(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 C11orf1 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 C11orf1 gene:
Search GeneIP for patents involving C11orf1

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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