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

C11orf75 Gene

protein-coding   GIFtS: 44
GCID: GC11M093211

chromosome 11 open reading frame 75

 Explore 1 disease affiliated with
C11orf75 via our new
 Human Malady Compendium 
Biological research products
for C11orf75
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 11 Open Reading Frame 751 2
FN51 2 3
UPF0443 Protein C11orf752
Protein FN53

External Ids:    HGNC: 248101   Entrez Gene: 569352   Ensembl: ENSG000001660027   OMIM: 6094775   UniProtKB: Q9NRQ53   

Export aliases for C11orf75 gene to outside databases

Previous GC identifers: GC11M092852 GC11M089289


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

  --

(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_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C11orf75 gene promoter:
         Nkx3-1   ISGF-3   Nkx3-1 v4   AP-1   AML1a   Pax-6   Nkx3-1 v1   GATA-1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC11orf75 promoter sequence
   Search SABiosciences Chromatin IP Primers for C11orf75

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C11orf75


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

C11orf75 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf75 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M093211:  view genomic region     (about GC identifiers)

Start:
93,211,638 bp from pter      End:
93,276,674 bp from pter
Size:
65,037 bases      Orientation:
minus strand

(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: CK075_HUMAN, Q9NRQ5 (See protein sequence)
Recommended Name: UPF0443 protein C11orf75  
Size: 59 amino acids; 6738 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for C11orf75: NX_Q9NRQ5

C11orf75 Protein expression data from MOPED and PaxDb:    About this image 
C11orf75 Protein Expression

REFSEQ proteins: NP_064564.1  
ENSEMBL proteins: 
 ENSP00000431781   ENSP00000298966   ENSP00000433555   ENSP00000432581   ENSP00000435827  

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Uscn Proteins for C11orf75

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0016021integral to membrane IEA--

C11orf75 for ontologies           About GeneDecksing



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

ProtoNet protein and cluster: Q9NRQ5

UniProtKB/Swiss-Prot: CK075_HUMAN, Q9NRQ5
Similarity: Belongs to the UPF0443 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
C11orf75 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for C11orf75:
 Increased TP53 protein express  Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C11orf75 

miRNA
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SwitchGear 3'UTR luciferase reporter plasmidC11orf75 3' UTR sequence
Inhib. RNA
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In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf75


(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 C11orf75

1 Interacting protein for C11orf75 (Q9NRQ53) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
BNIP3LO602383I2D: 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:0008150biological_process ND--

C11orf75 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 C11orf75
Search CenterWatch for drugs/clinical trials and news about C11orf75 / CK075 

(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,
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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 C11orf75 gene: 
NM_020179.2  

Unigene Cluster for C11orf75:

Chromosome 11 open reading frame 75
Hs.438064  [show with all ESTs]
Unigene Representative Sequence: BM911813
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000525141 ENST00000298966(uc001pds.4) ENST00000527149 ENST00000529714
ENST00000526869

miRNA
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8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate C11orf75 (see all 20):
hsa-miR-607 hsa-miR-3938 hsa-miR-181c hsa-miR-3616-5p hsa-miR-488 hsa-miR-124 hsa-miR-204 hsa-miR-3613-3p
SwitchGear 3'UTR luciferase reporter plasmidC11orf75 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C11orf75 (see all 4)
OriGene shRNA RFP: C11orf75
OriGene siRNA: C11orf75
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C11orf75
Sirion Biotech Custom design and validation of potent shRNA sequences against C11orf75 
Clone
Products:
     
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C11orf75 (see all 2)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector: C11orf75 (NM_020179)
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C11orf75

Additional cDNA sequence: 

AF197137.1 BC031564.1 

8 DOTS entries:

DT.98131890  DT.92474815  DT.95273436  DT.95344395  DT.100656641  DT.120713915  DT.91755096  DT.100727163 

24/67 AceView cDNA sequences (see all 67):

BI091033 BG698163 BG676605 AA384878 CR624699 BF846816 BF849191 BX487934 
AW152094 NM_020179 T36056 BQ674950 W95754 BU855610 AW440429 AA485088 
BC031564 BQ049161 AW512036 AI952281 CD370631 AV752109 AI815614 T25513 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C11orf75    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1:                                    
SP2:        -           -               


ECgene alternative splicing isoforms for C11orf75

(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

C11orf75 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCTTTCCA
C11orf75 Expression
About this image

C11orf75 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)
LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See C11orf75 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C11orf75

SOURCE GeneReport for Unigene cluster: Hs.438064
    SABiosciences Custom PCR Arrays for C11orf75
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C11orf75

(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 C11orf75 gene from 6/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia BC0176121 , 5 cDNA sequence BC0176121, 5 89.27(n)1
96.61(a)1
  9 (4.95 cM)5
1707481  NM_133214.21  NP_573477.21 
 155054875 
chicken
(Gallus gallus)
Aves C1H11orf751 chromosome 1 open reading frame, human C11orf75 76.84(n)
94.92(a)
  772206  NM_001164340.1  NP_001157812.1 
lizard
(Anolis carolinensis)
Reptilia C11orf756
--
95(a)
1 ↔ 1
3(196298673-196298849)
African clawed frog
(Xenopus laevis)
Amphibia AW634164.12   -- 83.73(n)    AW634164.1 
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11102 Oncorhynchus mykiss transcribed sequence with moderate more 79.58(n)    BX078254.1 
fruit fly
(Drosophila melanogaster)
Insecta CG331696
--
55(a)
1 ↔ 1
3L(22856964-22857596)


ENSEMBL Gene Tree for C11orf75 (if available)
TreeFam Gene Tree for C11orf75 (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

10/1206 NCBI SNPs in C11orf75 are shown (see all 1206    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1148907591,2
--93211351(+) ATACCG/AAGTTG 1 -- int11Minor allele frequency- A:0.01WA 118
rs2019901701,2
--93211446(+) TACCC-/TTTTTCT 1 -- int10--------
rs1421730961,2
C--93211475(+) ATTAT-/CGGTCA 1 -- int10--------
rs1909320671,2
--93211476(+) TTATCA/GGTCAA 1 -- int10--------
rs800237521,2
F--93211523(+) AGTGCT/CGGGGA 1 -- int11Minor allele frequency- C:0.03EA 120
rs1168788671,2
C,F--93211736(+) CCCTTT/CGGAGA 1 -- ut311Minor allele frequency- C:0.05EA 120
rs73651,2
C,F,A,H--93211764(+) AAAGAG/AGCATG 1 -- ut31 ese316Minor allele frequency- A:0.36MN NS EA NA WA CSA 1153
rs1813781091,2
--93211847(+) GTGGAA/GCTACT 1 -- ut310--------
rs585259711,2
C--93211880(+) ACACA-/CACA  
        
TGCGC
1 -- ut311Minor allele frequency- CACA:0.00NA 2
rs1129430701,2
C--93211880(+) AGAAG-/CACACA
        
CACAC
1 -- ut311Minor allele frequency- CACACA:0.50CSA 2

HapMap Linkage Disequilibrium report for C11orf75 (93211638 - 93276674 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for C11orf75
     3 CNVs: 48918 48919 4991

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C11orf75
DNA2.0 Custom Variant and Variant Library Synthesis for C11orf75

(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

C11orf75 for disorders           About GeneDecksing

OMIM gene information: 609477    OMIM disorders: --

1 disease for C11orf75:    About MalaCards
neurofibromatosis


Export disorders for C11orf75 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 C11orf75 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C11orf75)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. (PubMed id 10863097)1, 2, 3 Kehrer-Sawatzki H....Krone W. (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. (2004)
  3. 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)
  4. 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. (2002)

(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: 56935 HGNC: 24810 AceView: FN5 Ensembl:ENSG00000166002 euGenes: HUgn56935
ECgene: C11orf75 H-InvDB: C11orf75

(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 C11orf75 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 C11orf75 gene:
Search GeneIP for patents involving C11orf75

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

 
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Sirion Biotech Customized:
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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VWF
(GIFTS: 73)
von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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