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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C17orf53 Gene

protein-coding GIFtS: 43
GCID: GC17P042219

chromosome 17 open reading frame 53

Search for C17orf53
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 17 Open Reading Frame 53¹ ²
MGC3130¹
Uncharacterized Protein C17orf53²

External Ids:	HGNC: 28460¹	Entrez Gene: 78995²	Ensembl: ENSG00000125319⁷	UniProtKB: Q8N3J3³

Export aliases for C17orf53 gene to outside databases

Previous GC identifers: GC17P039575 GC17P037983

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C17orf53 gene promoter:
MEF-2A aMEF-2 RSRFC4
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C17orf53

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf53

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

Entrez Gene cytogenetic band: 17q21.31 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31

C17orf53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf53 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P042219: view genomic region (about GC identifiers)

Start:	42,219,274 bp from pter	End:	42,239,844 bp from pter
Size:	20,571 bases	Orientation:	plus 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: CQ053_HUMAN, Q8N3J3 (See protein sequence)

Recommended Name: Uncharacterized protein C17orf53

Size: 647 amino acids; 69771 Da

Secondary accessions: Q9BWM9 Q9HAI1

Alternative splicing: 3 isoforms: Q8N3J3-1 Q8N3J3-2 Q8N3J3-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C17orf53: NX_Q8N3J3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N3J3

C17orf53 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001164722.1 NP_076937.2

ENSEMBL proteins:

ENSP00000313500 ENSP00000466618 ENSP00000245382

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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: Q8N3J3

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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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 C17orf53

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for C17orf53 (ENSP00000313500⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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 C17orf53
Search CenterWatch for drugs/clinical trials and news about C17orf53 / CQ053

(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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About This Section

REFSEQ mRNAs for C17orf53 gene (2 alternative transcripts):

NM_001171251.1 NM_024032.3

Unigene Cluster for C17orf53:

Chromosome 17 open reading frame 53

Hs.437059 [show with all ESTs]

Unigene Representative Sequence: NM_024032

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

ENST00000319977(uc010czq.2 uc002ifi.2 uc002ifk.1) ENST00000585683

ENST00000245382(uc002ifj.2) ENST00000588434 ENST00000588073

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Additional cDNA sequence:

AK021656.1 AK291924.1 AL834295.1 BC000121.1

8 DOTS entries:

DT.410200 DT.102823877 DT.120949243 DT.75193016 DT.100738561 DT.100783064 DT.92032043 DT.426024

24/57 AceView cDNA sequences (see all 57):

AL834295 BX343006 AA814766 AA749347 BI829278 BQ420279 AA933995 BE896134

AF039239 AA526897 BX280827 CD644012 NM_024032 BI907713 AA131006 BC000121

BX283513 BX343005 BG760304 BX328299 BX331104 BG194937 BE747252 CA423137

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf53 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b
SP1:					-								-		-								-
SP2:
SP3:													-		-
SP4:
SP5:															-

ECgene alternative splicing isoforms for C17orf53

(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

C17orf53 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCAAGGTTC

About this image

C17orf53 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C17orf53 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C17orf53

SOURCE GeneReport for Unigene cluster: Hs.437059

SABiosciences Custom PCR Arrays for C17orf53

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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 C17orf53 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	BC030867^{1 , 5}	cDNA sequence BC030867^{1, 5}	76.53(n)¹ 68.43(a)¹		11 (66.21 cM)⁵ 217216¹ NM_153544.3¹ NP_705772.3¹ 102248882⁵
lizard (Anolis carolinensis)	Reptilia	C17orf53⁶	--	64(a)	1 ↔ 1	6(66634783-66645869)
zebrafish (Danio rerio)	Actinopterygii	wufd15b08²	Transcribed sequence with weak similarity to protein more	73.86(n)		BM777633.1

ENSEMBL Gene Tree for C17orf53 (if available)
TreeFam Gene Tree for C17orf53 (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

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201278031^1,2	C,	unknown	42222638(+)	`TTGATA/GATCAG`	2	--	int¹		0	--	--	--	--
rs185815872^1,2		--	42217550(+)	`TCCGGA/GTTCAT`	2	--	us2k¹		0	--	--	--	--
rs190341525^1,2		--	42217671(+)	`AGGATA/GGTCTC`	2	--	us2k¹		0	--	--	--	--
rs181069758^1,2		--	42217676(+)	`GGTCTC/GGATCT`	2	--	us2k¹		0	--	--	--	--
rs8078174^1,2	C,F,A,H,	--	42217724(+)	`TGCTGG/AGATTA`	2	--	us2k¹ tfbs³		8		NA WA CSA	14
rs185964088^1,2		--	42217784(+)	`ACTCCC/TTCCTG`	2	--	us2k¹		0	--	--	--	--
rs115263827^1,2	C,F,	--	42217787(+)	`CCCTCC/TTGACA`	2	--	us2k¹		1		WA	118
rs78673779^1,2	C,	--	42217936(+)	`CGGGAG/AGCCAA`	2	--	us2k¹		4		CSA WA NA EA	360
rs188123484^1,2		--	42218262(+)	`AGTTCA/GAGACC`	2	--	us2k¹		0	--	--	--	--
rs181327516^1,2		--	42218309(+)	`AAATAC/TAAAAA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C17orf53 (42219274 - 42239844 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C17orf53
1 CNV: 5008
Human Gene Mutation Database (HGMD): C17orf53

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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

C17orf53 for disorders About MalaCards

C17orf53 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C17orf53 (1 document)

Export disorders for C17orf53 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 C17orf53 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C17orf53)

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)
Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)¹ Emanuele M.J....Elledge S.J. (2011)
New sequence variants associated with bone mineral density. (PubMed id 19079262)¹ Styrkarsdottir U....Stefansson K. (2009)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
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)
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

		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: 78995	HGNC: 28460	AceView: MGC3130	Ensembl:ENSG00000125319	euGenes: HUgn78995
ECgene: C17orf53	H-InvDB: C17orf53

(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 C17orf53	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C17orf53 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C17orf53 gene:
Search GeneIP for patents involving C17orf53

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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf53

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ThermoFisher Antibody for C17orf53

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C17orf53

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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 C17orf53 gene at Home site.

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C17orf53 Gene

chromosome 17 open reading frame 53

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C17orf53 Gene

chromosome 17 open reading frame 53

Aliasesfor C17orf53 gene

Summariesfor C17orf53 gene

Genomic Viewsfor C17orf53 gene

Proteinsfor C17orf53 gene

Protein Domains /Familiesfor C17orf53 gene

Functionfor C17orf53 gene

Pathways & Interactionsfor C17orf53 gene

Drugs & Compoundsfor C17orf53 gene

Transcriptsfor C17orf53 gene

Expression for C17orf53 gene

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External Searches for C17orf53 gene

Genome Databases showing C17orf53 gene

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Specialized Databases showing C17orf53 gene

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Aliases
for C17orf53 gene

Summaries
for C17orf53 gene

Genomic Views
for C17orf53 gene

Proteins
for C17orf53 gene

Protein Domains /
Families
for C17orf53 gene

Function
for C17orf53 gene

Pathways & Interactions
for C17orf53 gene

Drugs & Compounds
for C17orf53 gene

Transcripts
for C17orf53 gene

Expression
for C17orf53 gene

Orthologs
for C17orf53 gene

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for C17orf53 gene

Genomic Variants
for C17orf53 gene

Disorders / Diseases
for C17orf53 gene

Publications
for C17orf53 gene

Intellectual Property
for C17orf53 gene

Products
for C17orf53 gene