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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MANSC1 Gene

protein-coding GIFtS: 41
GCID: GC12M012482

MANSC domain containing 1

Search for MANSC1
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
MANSC Domain Containing 1¹ ²
LOH12CR3¹ ² ³
Loss Of Heterozygosity 12 Chromosomal Region 3 Protein² ³
FLJ10298¹
9130403P13Rik²
MANSC Domain-Containing Protein 1²

External Ids:	HGNC: 25505¹	Entrez Gene: 54682²	Ensembl: ENSG00000111261⁷	UniProtKB: Q9H8J5³

Export aliases for MANSC1 gene to outside databases

Previous GC identifers: GC12M012374 GC12M012375 GC12M012247

(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_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MANSC1 gene promoter:
Sp1 HTF FOXD1 MyoD LCR-F1 RORalpha1 FOXJ2 (long isoform) c-Myb ZID FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MANSC1 promoter sequence

Search SABiosciences Chromatin IP Primers for MANSC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MANSC1

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

Entrez Gene cytogenetic band: 12p13.2 Ensembl cytogenetic band: 12p13.2 HGNC cytogenetic band: 12p13.2

MANSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MANSC1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M012482: view genomic region (about GC identifiers)

Start:	12,482,198 bp from pter	End:	12,503,475 bp from pter
Size:	21,278 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: MANS1_HUMAN, Q9H8J5 (See protein sequence)

Recommended Name: MANSC domain-containing protein 1 precursor

Size: 431 amino acids; 46810 Da

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Secondary accessions: Q8NEC1

Explore the universe of human proteins at neXtProt for MANSC1: NX_Q9H8J5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H8J5

MANSC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060520.2

ENSEMBL proteins:

ENSP00000438205 ENSP00000379638 ENSP00000347765 ENSP00000445303 ENSP00000437624

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	Uscn Proteins for MANSC1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

MANSC1 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

MANSC1 for domains About GeneDecksing

2 InterPro domains/families:

IPR013980 MANSC

IPR011106 MANSC_N

Graphical View of Domain Structure for InterPro Entry Q9H8J5

ProtoNet protein and cluster: Q9H8J5

1 Blocks protein family: IPB011106 Seven cysteines

UniProtKB/Swiss-Prot: MANS1_HUMAN, Q9H8J5

Similarity: Contains 1 MANSC domain

(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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Animal Models:
Mouse knock-out Mansc1^tm1Lex for MANSC1
1 MGI phenotypic allele

for Mansc1 (no phenotypes)

MANSC1 for phenotypes About GeneDecksing

(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 MANSC1

(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

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Browse drugs & compounds from Enzo Life Sciences

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(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,
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About This Section

REFSEQ mRNAs for MANSC1 gene:

NM_018050.2

Unigene Cluster for MANSC1:

MANSC domain containing 1

Hs.591145 [show with all ESTs]

Unigene Representative Sequence: BC032998

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

ENST00000535902(uc001rai.1) ENST00000396349(uc001raj.1) ENST00000355566(uc010shm.1)

ENST00000545735 ENST00000543314

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Additional cDNA sequence:

AK001160.1 AK023622.1 AK298681.1 AY358563.1 BC032998.2

7 DOTS entries:

DT.108798 DT.121179967 DT.99928403 DT.95332769 DT.100755346 DT.121179953 DT.91985485

24/76 AceView cDNA sequences (see all 76):

NM_018050 AU138119 AW087232 BP375799 BM753270 CR621081 H60061 AW057870

CK300688 AK023622 AU279841 F10587 BM828071 BP375432 BF312571 BG720669

AU123305 BX100624 AI612764 BF432736 BU789700 CA397415 BX953184 AL525390

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for MANSC1 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c
SP1:					-						-
SP2:					-						-
SP3:											-
SP4:
SP5:

ECgene alternative splicing isoforms for MANSC1

(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

MANSC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MANSC1 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 SM22 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MANSC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MANSC1

SOURCE GeneReport for Unigene cluster: Hs.591145

UniProtKB/Swiss-Prot: MANS1_HUMAN, Q9H8J5

Tissue specificity: Widely expressed

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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 chordates.

Orthologs for MANSC1 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mansc1^{1 , 5}	MANSC domain containing 1^{1, 5}	70.61(n)¹ 62.32(a)¹		6 (65.75 cM)⁵ 67729¹ NM_026345.4¹ NP_080621.1¹ 134609210⁵
chicken (Gallus gallus)	Aves	MANSC1¹	MANSC domain containing 1	44.75(n) 34.25(a)		426428 NM_001031381.1 NP_001026552.1

ENSEMBL Gene Tree for MANSC1 (if available)
TreeFam Gene Tree for MANSC1 (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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71433474^1,2	C,	--	12481791(+)	`TTGGCA/GGGCGC`	1	--	ds500¹		2		NA	4
rs11054816^1,2	C,	--	12481814(+)	`CTACTC/TGGGAG`	1	--	ds500¹		6		NA WA CSA	11
rs111747493^1,2	C,	--	12481870(+)	`TGAGCC/TGAGAT`	1	--	ds500¹		1		CSA	2
rs181137440^1,2		--	12481903(+)	`GGTGAC/GAGAGC`	1	--	ds500¹		0	--	--	--	--
rs186399673^1,2		--	12481961(+)	`ACACAA/CGTTAA`	1	--	ds500¹		0	--	--	--	--
rs150687186^1,2		--	12482042(+)	`ATTCCA/GCTAGA`	1	--	ds500¹		0	--	--	--	--
rs191714268^1,2		--	12482158(+)	`AATGGA/CAAGTT`	1	--	ds500¹		0	--	--	--	--
rs140204909^1,2		--	12482191(+)	`TGAGAA/GCACTA`	1	--	ds500¹		0	--	--	--	--
rs115180957^1,2	C,F,	--	12482263(+)	`TAAAGG/AAATCC`	1	--	ut3¹		1		WA	118
rs1043383^1,2	C,F,O,A,H,	--	12482448(-)	`TAGCTA/GAAAAC`	1	--	ut3¹		20		MN NS EA NA CSA WA	2528

HapMap Linkage Disequilibrium report for MANSC1 (12482198 - 12503475 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for MANSC1
5 CNVs: 75961 75959 86224 75960 75957
Human Gene Mutation Database (HGMD): MANSC1

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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

MANSC1 for disorders About MalaCards

MANSC1 for disorders About GeneDecksing

Export disorders for MANSC1 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 MANSC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MANSC1)

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

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2, 3} Clark H.F.... Gray A.M. (2003)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. (PubMed id 11896457)² Montpetit A.... Sinnett D. (2002)
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: 54682	HGNC: 25505	AceView: MANSC1	Ensembl:ENSG00000111261	euGenes: HUgn54682
ECgene: MANSC1	H-InvDB: MANSC1

(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 MANSC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MANSC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MANSC1 gene:
Search GeneIP for patents involving MANSC1

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 MANSC1

	SwitchGear 3'UTR luciferase reporter plasmids for MANSC1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANSC1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 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 MANSC1 gene at Home site.

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MANSC1 Gene

MANSC domain containing 1

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MANSC1 Gene

MANSC domain containing 1

Aliasesfor MANSC1 gene

Summariesfor MANSC1 gene

Genomic Viewsfor MANSC1 gene

Proteinsfor MANSC1 gene

Protein Domains /Familiesfor MANSC1 gene

Functionfor MANSC1 gene

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Specialized Databases showing MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene

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for MANSC1 gene