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CD1C Gene

protein-coding   GIFtS: 57
GCID: GC01P158259

CD1c Molecule

(Previous names: CD1C antigen, c polypeptide, CD1c antigen)
(Previous symbol: CD1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CD1c Molecule1 2     CD1A2
CD11 2     R72
CD1C Antigen, C Polypeptide1 2     Cortical Thymocyte Antigen CD1C2
CD1c Antigen1 3     Differentiation Antigen CD1-Alpha-32
BDCA12     T-Cell Surface Glycoprotein CD1c2

External Ids:    HGNC: 16361   Entrez Gene: 9112   Ensembl: ENSG000001584817   OMIM: 1883405   UniProtKB: P290173   

Export aliases for CD1C gene to outside databases

Previous GC identifers: GC01P156052 GC01P153993 GC01P155037 GC01P155476 GC01P155072 GC01P156526 GC01P129617


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CD1C Gene:
This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the
major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins
mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The
human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are
thought to differ in their cellular localization and specificity for particular lipid ligands. The protein
encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the
cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their
full-length nature is not known. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD1C Gene:
CD1C (CD1c molecule) is a protein-coding gene. Diseases associated with CD1C include mycobacterium malmoense, and langerhans-cell histiocytosis. GO annotations related to this gene include lipopeptide binding and beta-2-microglobulin binding. An important paralog of this gene is CD1A.

UniProtKB/Swiss-Prot: CD1C_HUMAN, P29017
Function: Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them
to T-cell receptors on natural killer T-cells




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD1C gene promoter:
         Bach1   AP-1   LCR-F1   Evi-1   MEF-2A   S8   Chx10   aMEF-2   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CD1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD1C


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

Entrez Gene cytogenetic band: 1q23.1   Ensembl cytogenetic band:  1q23.1   HGNC cytogenetic band: 1q23.1

CD1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD1C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P158259:  view genomic region     (about GC identifiers)

Start:
158,259,563 bp from pter      End:
158,264,564 bp from pter
Size:
5,002 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CD1C_HUMAN, P29017 (See protein sequence)
Recommended Name: T-cell surface glycoprotein CD1c precursor  
Size: 333 amino acids; 37654 Da
Subunit: Heterodimer with B2M (beta-2-microglobulin)
Miscellaneous: During protein synthesis and maturation, CD1 family members bind endogenous lipids that are
replaced by lipid or glycolipid antigens when the proteins are internalized and pass through endosomes or
lysosomes, before trafficking back to the cell surface
1 PDB 3D structure from and Proteopedia for CD1C:
3OV6 (3D)    
Secondary accessions: Q5TDJ7 Q6IAS4 Q9UMM0 Q9UN96

Explore the universe of human proteins at neXtProt for CD1C: NX_P29017

Explore proteomics data for CD1C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys197
  • Glycosylation2 at Asn38, Asn70, Asn75, Asn78, Asn146

  • See CD1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001756.2  
    ENSEMBL proteins: 
     ENSP00000357152   ENSP00000408755  

    CD1C Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Novus Biologicals CD1C Proteins
    Novus Biologicals CD1C Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CD1C Antibody Products:

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    Novus Biologicals CD1C Antibodies
    Abcam antibodies for CD1C (P06126, P29017, P29016)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CD1C
    LSBio Antibodies in human, mouse, rat for CD1C

    CD1C Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CD1C
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5 InterPro protein domains:
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR011161 MHC_I-like_Ag-recog

    Graphical View of Domain Structure for InterPro Entry P29017

    ProtoNet protein and cluster: P29017

    1 Blocks protein domain: IPB003597 Immunoglobulin C-type

    UniProtKB/Swiss-Prot: CD1C_HUMAN, P29017
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain


    CD1C 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD1C_HUMAN, P29017
    Function: Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them
    to T-cell receptors on natural killer T-cells

         Genatlas biochemistry entry for CD1C:
    cell differentiation antigen CD1C,43kDa,membrane glycoprotein,B2M associated,identified by monoclonal antibodies
    L161,7C6,PHM3 (see CD1@)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030881beta-2-microglobulin binding IBA--
    GO:0030883endogenous lipid antigen binding IDA--
    GO:0030884exogenous lipid antigen binding IDA--
    GO:0051861glycolipid binding IDA--
         
    CD1C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CD1C:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD1C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD1C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD1C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD1C

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CD1C using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CD1C:
    hsa-miR-550a
    SwitchGear 3'UTR luciferase reporter plasmidCD1C 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD1C
    Predesigned siRNA for gene silencing in human, mouse, rat CD1C

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CD1C (NM_001765)
    Sino Biological Human cDNA Clone for CD1C
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD1C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD1C

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD1C


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD1C_HUMAN, P29017: Cell membrane; Single-pass type I membrane protein. Endosome membrane. Note=Subject to
    intracellular trafficking between the cell membrane and endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    extracellular3
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS2447586
    GO:0005887integral component of plasma membrane TAS1702817
    GO:0010008endosome membrane IEA--

    CD1C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CD1C About    
    See pathways by source

    SuperPathContained pathways About
    1Hematopoietic cell lineage
    Hematopoietic cell lineage

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for CD1C):
        Hematopoietic cell lineage


    CD1C for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD1C: 
              Cell Surface Markers in human mouse rat
              Antigen Presenting Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD1C

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002286T cell activation involved in immune response IDA--
    GO:0048007antigen processing and presentation, exogenous lipid antigen via MHC class Ib IBA--

    CD1C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD1C

    Selected HMDB Compounds for CD1C (see all 519)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--

    2 Novoseek inferred chemical compound relationships for CD1C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycolipid 71.4 8 9820479 (1), 12391186 (1), 15185366 (1), 15493902 (1) (see all 6)
    lipid 53.1 52 11145857 (3), 19374905 (3), 14551186 (3), 10899914 (3) (see all 25)



    CD1C for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CD1C gene: 
    NM_001765.2  

    Unigene Cluster for CD1C:

    CD1c molecule
    Hs.132448  [show with all ESTs]
    Unigene Representative Sequence: NM_001765
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368170(uc001fru.3 uc021pbl.1) ENST00000443761
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CD1C using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CD1C:
    hsa-miR-550a
    SwitchGear 3'UTR luciferase reporter plasmidCD1C 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CD1C
    Predesigned siRNA for gene silencing in human, mouse, rat CD1C
    Clone
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    OriGene clones in human, mouse for CD1C (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CD1C (NM_001765)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD1C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD1C
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CD1C
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CD1C
      QuantiTect SYBR Green Assays in human, mouse, rat CD1C
      QuantiFast Probe-based Assays in human, mouse, rat CD1C

    Additional mRNA sequence: 

    AK226024.1 AK298234.1 AK310577.1 AK310710.1 BC126465.1 BC126467.1 CR457080.1 M28827.1 
    X79311.1 

    7 DOTS entries:

    DT.211442  DT.121377686  DT.75102006  DT.121377698  DT.92418900  DT.95158096  DT.121377680 

    Selected AceView cDNA sequences (see all 55):

    AI707712 CR615066 CA436720 CB162552 CB161588 AV714702 M28827 X79311 
    AV715961 AA380406 NM_001765 BQ006118 BP340167 BU682739 AI735106 BX401817 
    T28587 AI523463 BI523941 AI290786 BM804892 AW574786 CD709187 AV713814 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CD1C    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7
    SP1:        -           -                                 
    SP2:                                            -         
    SP3:                                                      


    ECgene alternative splicing isoforms for CD1C

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD1C Expression
    About this image


    CD1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Mature B-Cells Peripheral Blood
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 3 Thymocytes Thymus
    CD1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132448

    UniProtKB/Swiss-Prot: CD1C_HUMAN, P29017
    Tissue specificity: Expressed on cortical thymocytes, on certain T-cell leukemias, and in various other tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD1C: 
              Cell Surface Markers in human mouse rat
              Antigen Presenting Cells in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CD1C
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat CD1C
    QuantiTect SYBR Green Assays in human, mouse, rat CD1C
    QuantiFast Probe-based Assays in human, mouse, rat CD1C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD1C

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CD1C gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CD1C1 CD1c molecule 73.41(n)
    67.07(a)
      488609  NM_001128836.1  NP_001122308.1 
    chicken
    (Gallus gallus)
    Aves CD1A16
    CD1.26
    Gallus gallus CD1b molecule (CD1B), mRNA.
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    16(2102-4938)
    16(5769-8509)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    1 → many
    2(189404875-189415760)


    ENSEMBL Gene Tree for CD1C (if available)
    TreeFam Gene Tree for CD1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD1C gene
    CD1A2  CD1D2  CD1B2  CD1E2  
    15 SIMAP similar genes for CD1C using alignment to 2 protein entries:     CD1C_HUMAN (see all proteins):
    CDIE    CD1b    CD1B    CD1A    CD1E    CD1D
    HLA-DQB1    HLA-DRB1    HLA-DRB4    HLA DRB4    HLA-DRB4*0102    MICA
    HFE    HLA-DRB5    HLA-DQB

    CD1C for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD1C (see all 187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1181195001,2
    F--158257730(+) CAGGAC/TTGGAG 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs107970061,2
    C,F,A,H--158257838(+) TAGGAA/CCATGG 1 -- us2k124Minor allele frequency- C:0.45NS EA NA WA CSA 2508
    rs1810379961,2
    --158257931(+) AAGATG/TAGCAA 1 -- us2k10--------
    rs66899831,2
    C,F--158257979(+) TTTGAA/CCTGGG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1493233921,2
    --158258121(+) AAGTAC/TCATGT 1 -- us2k10--------
    rs1442554681,2
    C--158258140(+) GTAAAC/TACATA 1 -- us2k10--------
    rs172737621,2
    C,F,H--158258188(+) ATGGGA/GTTTTC 1 -- us2k1 tfbs310Minor allele frequency- G:0.06NA NS EA WA CSA 676
    rs1483018381,2
    --158258276(+) TTCAGG/TGCTCA 1 -- us2k10--------
    rs1413906351,2
    --158258341(+) CACATA/TTGGCC 1 -- us2k10--------
    rs1143322211,2
    F--158258350(+) CCAACT/CTTTTA 1 -- us2k11Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for CD1C (158259563 - 158264564 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CD1C:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv393n71CNV Gain21882294
    nsv831692CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD1C
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 188340    OMIM disorders: --

    Selected diseases for CD1C (see all 23):    
    About MalaCards
    mycobacterium malmoense    langerhans-cell histiocytosis    guillain-barre syndrome    histiocytosis
    skin disease    b-cell chronic lymphocytic leukemia    mycosis fungoides    sickle cell disease
    pertussis    chronic lymphocytic leukemia    periodontal disease    tuberculosis
    periodontitis    graves' disease    psoriasis    coronary artery disease
    t-cell leukemia    asthma    hepatitis b    leukemia


    CD1C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    6 Novoseek inferred disease relationships for CD1C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmunity 27.6 1 14734115 (1)
    infectious disease 24.9 1 18989404 (1)
    autoimmune diseases 23.5 5 18989404 (1), 15749918 (1), 12213347 (1)
    skin diseases 6.57 1 11564162 (1)
    tumors 0 6 18989404 (1), 19428084 (1), 12213347 (1), 14734115 (1)
    tuberculosis 0 2 16034117 (2)

    Genetic Association Database (GAD): CD1C
    Human Genome Epidemiology (HuGE) Navigator: CD1C (4 documents)

    Export disorders for CD1C 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)
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    PubMed articles for CD1C gene, integrated from 10 sources (see all 112):
    (articles sorted by number of sources associating them with CD1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression of the human thymocyte antigens CD1a, CD1b, and CD1c. (PubMed id 2447586)1, 2, 3 Martin L.H.... Milstein C. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    2. Human CD1b and CD1c isoforms survey different intracellular compartments for the presentation of microbial lipid antigens. (PubMed id 10899914)1, 2, 9 Briken V.... Porcelli S.A. (J. Exp. Med. 2000)
    3. CD1c-mediated T-cell recognition of isoprenoid glycolipids in Mycobacterium tuberculosis infection. (PubMed id 10786796)1, 2, 9 Moody D.B....Porcelli S.A. (Nature 2000)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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. (Genome Res. 2004)
    6. CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease. (PubMed id 11580851)1, 4 Jones D.C....Bunce M. (Tissue Antigens 2001)
    7. CD1c molecules broadly survey the endocytic system. (PubMed id 10890914)1, 2 Sugita M.... Brenner M.B. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    8. Polymorphism of human CD1 genes. (PubMed id 10488738)1, 2 Han M.... Robinson M.A. (Tissue Antigens 1999)
    9. Expression of cDNA clones encoding the thymocyte antigens CD1a, b, c demonstrates a hierarchy of exclusion in fibroblasts. (PubMed id 2701945)1, 2 Aruffo A. and Seed B. (J. Immunol. 1989)
    10. Isolation of CD1 genes: a family of major histocompatibility complex- related differentiation antigens. (PubMed id 3097645)1, 2 Martin L.H.... Milstein C. (Proc. Natl. Acad. Sci. U.S.A. 1986)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 911 HGNC: 1636 AceView: CD1C Ensembl:ENSG00000158481 euGenes: HUgn911
    ECgene: CD1C Kegg: 911 H-InvDB: CD1C

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CD1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CD1C gene:
    Search GeneIP for patents involving CD1C

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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