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

MANSC1 Gene

protein-coding   GIFtS: 44
GCID: GC12M012482

MANSC Domain Containing 1

  Search for MANSC1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MANSC Domain Containing 11 2
Loss Of Heterozygosity 12 Chromosomal Region 3 Protein2 3
LOH12CR32 3
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

GeneCards Summary for MANSC1 Gene: 
MANSC1 (MANSC domain containing 1) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
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 plasmidMANSC1 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MANSC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H8J5

  • MANSC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MANSC1 Protein Expression
    REFSEQ proteins: NP_060520.2  
    ENSEMBL proteins: 
     ENSP00000438205   ENSP00000379638   ENSP00000445303   ENSP00000437624  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    MANSC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013980 MANSC
     IPR011106 MANSC_N

    Graphical View of Domain Structure for InterPro Entry Q9H8J5

    ProtoNet protein and cluster: Q9H8J5

    1 Blocks protein domain: IPB011106 Seven cysteines

    UniProtKB/Swiss-Prot: MANS1_HUMAN, Q9H8J5
    Similarity: Contains 1 MANSC domain


    MANSC1 for domains           About GeneDecksing


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

    Phenotypes:
         1 MGI phenotypic allele for Mansc1 (no phenotypes)

    MANSC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mansc1tm1Lex for MANSC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MANSC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MANSC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MANSC1 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MANSC1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 MANSC1 (MANS1)

    Search CenterWatch for drugs/clinical trials and news about MANSC1 / MANS1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535902(uc001rai.1) ENST00000396349(uc001raj.1) ENST00000545735
    ENST00000543314
    miRNA
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    hsa-miR-3163 hsa-miR-875-3p hsa-miR-1303 hsa-miR-3202 hsa-miR-1252 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidMANSC1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MANSC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANSC1
    Sirion Biotech Customized lentivirus for stable overexpression of MANSC1 
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    Additional mRNA 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):

    AK023622 AU279841 AU138119 NM_018050 BM828071 AW057870 AW087232 CR621081 
    BM753270 H60061 BP375799 CK300688 F10587 BX350141 BM846209 CN485040 
    BF793997 AK001160 BM828163 BM790877 AI979095 BM480099 BI031814 BQ325584 

    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)      MANSC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MANSC1 Expression
    About this image


    MANSC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Stem Bronchi
             Human Pulmonary Artery Smooth Muscle Cells (HPASMC)   
             trachea   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina
     
     Smooth Muscle (Muscoskeletal System)
             Human Pulmonary Artery Smooth Muscle Cells (HPASMC)   

    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

        SABiosciences Custom PCR Arrays for MANSC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANSC1

    (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 Mansc11 , 5 MANSC domain containing 11, 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, 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) 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

    10/590 SNPs in MANSC1 are shown (see all 590)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs574296801,2
    C--12355640(+) GAGACC/-CCCCC 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs714334741,2
    C,F--12481791(+) TTGGCA/GGGCGC 1 -- ds50012Minor allele frequency- G:0.00NA 4
    rs110548161,2
    C--12481814(+) CTACTC/TGGGAG 1 -- ds50016Minor allele frequency- T:0.09NA WA CSA 11
    rs1117474931,2
    C,F--12481870(+) TGAGCC/TGAGAT 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1811374401,2
    --12481903(+) GGTGAC/GAGAGC 1 -- ds50010--------
    rs1863996731,2
    --12481961(+) ACACAA/CGTTAA 1 -- ds50010--------
    rs1506871861,2
    C--12482042(+) ATTCCA/GCTAGA 1 -- ds50010--------
    rs1917142681,2
    --12482158(+) AATGGA/CAAGTT 1 -- ds50010--------
    rs1402049091,2
    C--12482191(+) TGAGAA/GCACTA 1 -- ds50010--------
    rs1151809571,2
    C,F--12482263(+) TAAAGG/AAATCC 1 -- ut311Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for MANSC1 (12482198 - 12503475 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MANSC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745567CNV Deletion23290073
    nsv832332CNV Loss17160897
    nsv898807CNV Gain21882294
    nsv898809CNV Gain21882294
    nsv898808CNV Gain21882294


    Human Gene Mutation Database (HGMD): MANSC1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MANSC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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

    1. 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)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    5. A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. (PubMed id 11896457)2 Montpetit A.... Sinnett D. (2002)
    6. 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: 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
    NameDescription
    PharmGKB entry for MANSC1 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 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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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 


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