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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C11orf48 Gene

protein-coding GIFtS: 40
GCID: GC11M062468

chromosome 11 open reading frame 48

Search for C11orf48
in

MalaCards

our new
Human Malady Compendium

(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 48¹ ²
MGC2477¹
Uncharacterized Protein C11orf48²

External Ids:	HGNC: 28351¹	Entrez Gene: 79081²	Ensembl: ENSG00000162194⁷	UniProtKB: Q9BQE6³

Export aliases for C11orf48 gene to outside databases

Previous GC identifers: GC11M062187 GC11M062433 GC11M058759 GC11M062438 GC11M062440 GC11M062446 GC11M062450

(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 C11orf48 gene promoter:
TBP E2F-4 E2F-3a NF-1/L E2F-5 NF-1 Sp1 E2F-2 E2F E2F-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C11orf48

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C11orf48

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

Entrez Gene cytogenetic band: 11q12.3 Ensembl cytogenetic band: 11q12.3 HGNC cytogenetic band: 11q12.3

C11orf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C11orf48 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M062468: view genomic region (about GC identifiers)

Start:	62,430,287 bp from pter	End:	62,439,727 bp from pter
Size:	9,441 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: CK048_HUMAN, Q9BQE6 (See protein sequence)

Recommended Name: Uncharacterized protein C11orf48

Size: 289 amino acids; 31565 Da

Secondary accessions: Q96NA4

Alternative splicing: 2 isoforms: Q9BQE6-1 Q9BQE6-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C11orf48: NX_Q9BQE6

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BQE6

C11orf48 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_077004.2

ENSEMBL proteins:

ENSP00000432523 ENSP00000346600 ENSP00000416856 ENSP00000436848 ENSP00000432316

ENSP00000410979 ENSP00000431887 ENSP00000434489 ENSP00000437582 ENSP00000431471

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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: Q9BQE6

(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

Phenotypes:
1 GenomeRNAi human phenotype for C11orf48:

Increased gamma-H2AX phosphory

Animal Models:

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In Situ Assay
Products:

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(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 Central^TM Interacting Genes and Proteins Networks for C11orf48

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/7 Interacting proteins for C11orf48 (Q9BQE6³ ENSP00000346600⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
LYAR	Q9NX58³, ENSP00000345917⁴	I2D: score=1 STRING: ENSP00000345917
AMBRA1	Q9C0C7³	I2D: score=1
PDPK1	O15530³	I2D: score=1
PRKAA1	Q13131³	I2D: score=1

About this table

(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 C11orf48
Search CenterWatch for drugs/clinical trials and news about C11orf48 / CK048

(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,
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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 C11orf48 gene:

NM_024099.3

Unigene Cluster for C11orf48:

Chromosome 11 open reading frame 48

Hs.9061 [show with all ESTs]

Unigene Representative Sequence: BC001434

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000532786 ENST00000524958 ENST00000354588(uc001nuf.3) ENST00000431002

ENST00000532208 ENST00000525675 ENST00000415855 ENST00000527679(uc010rmd.1)

ENST00000524759 ENST00000528115 ENST00000528862 ENST00000377954 ENST00000526490

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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate C11orf48:
		hsa-miR-3158-3p hsa-miR-3140-3p hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-556-3p
		SwitchGear 3'UTR luciferase reporter plasmid: C11orf48 3' UTR sequence

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Additional cDNA sequence:

AK302538.1 BC001434.2

18 DOTS entries:

DT.120710065 DT.92434727 DT.87046070 DT.40120328 DT.120709909 DT.120709950 DT.100794150 DT.120710087

DT.95280228 DT.92055921 DT.100794151 DT.92434726 DT.120710014 DT.95100039 DT.95280221 DT.100776698

DT.40304578 DT.91821358

24/318 AceView cDNA sequences (see all 318):

CR623757 AI493877 BE743768 F37288 BG681685 BC001434 BC060841 BM707514

BM716337 BM914482 AA451751 AA311811 AI811165 BC000271 CR612336 AA112415

BQ277735 BM931781 BQ676864 AI802787 CA454134 AW298706 BM708935 BU552979

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™, 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

C11orf48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

C11orf48 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

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C11orf48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C11orf48

SOURCE GeneReport for Unigene cluster: Hs.9061

SABiosciences Custom PCR Arrays for C11orf48

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In Situ
Assay Products:

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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 human and mouse.

Orthologs for C11orf48 gene from 1/3 species (see all 3) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	1810009A15Rik⁵	RIKEN cDNA 1810009A15 gene	--		19 (5.93 cM) 8888903

ENSEMBL Gene Tree for C11orf48 (if available)
TreeFam Gene Tree for C11orf48 (if available)

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

Paralogs for C11orf48 gene

C11orf48 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for C11orf48
PGOHUM00000258151 PGOHUM00000243421 PGOHUM00000236400

(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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80337571^1,2	C	--	62429925(+)	`ACCCCG/AGTAGG`	1	--	int¹		2		NA	122
rs199912128^1,2		--	62429925(+)	`ACCCC-/GGTAGG`	1	--	int¹		0	--	--	--	--
rs11819891^1,2	H	--	62430022(+)	`aatttA/Tttgta`	1	--	int¹		0	--	--	--	--
rs115111785^1,2	C	--	62430042(+)	`GAAACA/GGGGTT`	1	--	int¹		0	--	--	--	--
rs191879394^1,2		--	62430069(+)	`AACTTA/GTGACC`	1	--	int¹		0	--	--	--	--
rs184075304^1,2		--	62430095(+)	`GCCTCA/GGCCTC`	1	--	int¹		0	--	--	--	--
rs567069^1,2	C,A,H	--	62430118(-)	`CGCCTA/CTAATG`	1	--	int¹		9		NA WA CSA	16
rs189009588^1,2		--	62430122(+)	`AGAGGC/TGTGAG`	1	--	int¹		0	--	--	--	--
rs142702463^1,2		--	62430166(+)	`GGGCAA/GAGGCT`	1	--	int¹		0	--	--	--	--
rs76217138^1,2	C,F	--	62430252(+)	`TTTCAT/GGACCC`	1	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for C11orf48 (62430287 - 62439727 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C11orf48
1 CNV: 4749

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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

(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 C11orf48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C11orf48)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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. (2002)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
Mammalian small nucleolar RNAs are mobile genetic elements. (PubMed id 17154719)¹ Weber M.J. (2006)
Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)¹ Matsumoto M....Nakayama K.I. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 79081	HGNC: 28351	AceView: MGC2477andKIAA1698	Ensembl:ENSG00000162194	euGenes: HUgn79081
ECgene: C11orf48	H-InvDB: C11orf48

(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

Name	Description
PharmGKB entry for C11orf48	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C11orf48 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C11orf48 gene:
Search GeneIP for patents involving C11orf48

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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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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Category			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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C11orf48 gene at Home site.

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C11orf48 Gene

chromosome 11 open reading frame 48

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C11orf48 Gene

chromosome 11 open reading frame 48

Aliasesfor C11orf48 gene

Summariesfor C11orf48 gene

Genomic Viewsfor C11orf48 gene

Proteinsfor C11orf48 gene

Protein Domains /Familiesfor C11orf48 gene

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Expression for C11orf48 gene

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for C11orf48 gene

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for C11orf48 gene

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for C11orf48 gene

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