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

ENSG00000206435 Gene

protein-coding   GIFtS: 20
GCID: GC06Mo31229          (predicted)

ENSG00000206435


 Explore 3 diseases affiliated with
ENSG00000206435 via our new
 Human Malady Compendium 
Biological research products
for ENSG00000206435
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
D6S2043     MHC Class I Antigen Cw*173
HLA-JY33     MHC Class I Antigen Cw*43
HLAC3     MHC Class I Antigen Cw*53
MHC Class I Antigen Cw*153     MHC Class I Antigen Cw*83

External Ids:    Ensembl: ENSG000002064357   UniProtKB: Q956043   UniProtKB: Q070003   UniProtKB: Q9TNN73   UniProtKB: P305043   
UniProtKB: P305053   

Export aliases for ENSG00000206435 gene to outside databases

Previous GC identifer: GC06Mc31374


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/: 1C17_HUMAN, Q95604 (see all)
Function: Involved in the presentation of foreign antigens to the immune system




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ENSG00000206435
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ENSG00000206435

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENSG00000206435


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_SSTOp21.33   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mo31229:  view genomic region     (about GC identifiers)

Start:
31,229,147 bp from pter      End:
31,232,539 bp from pter
Size:
3,393 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: 1C17_HUMAN, Q95604 (See protein sequence)
Recommended Name: HLA class I histocompatibility antigen, Cw-17 alpha chain precursor  
Size: 372 amino acids; 41238 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1
protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O02864 O02958 Q29643 Q9MY30

UniProtKB/Swiss-Prot: 1C15_HUMAN, Q07000 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-15 alpha chain precursor  
Size: 366 amino acids; 40863 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1
protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O78165 Q29864 Q29991 Q31605 Q9BD28 Q9GJ33 Q9MY49

UniProtKB/Swiss-Prot: 1C05_HUMAN, Q9TNN7 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-5 alpha chain precursor  
Size: 366 amino acids; 40912 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1
protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O02866 O62888 Q9TPV8 Q9TPX2

UniProtKB/Swiss-Prot: 1C04_HUMAN, P30504 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-4 alpha chain precursor  
Size: 366 amino acids; 40995 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1
protein (By similarity). Interacts with HTLV-1 p12I accessory protein
Subcellular location: Membrane; Single-pass type I membrane protein
2 PDB 3D structures from and Proteopedia for ENSG00000206435:
1IM9 (3D)        1QQD (3D)    
Secondary accessions: O78067 O78072 O78090 O78149 Q29921 Q9UM42

UniProtKB/Swiss-Prot: 1C08_HUMAN, P30505 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-8 alpha chain precursor  
Size: 366 amino acids; 40773 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1
protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: P30506 P30507

Explore the universe of human proteins at neXtProt for ENSG00000206435: NX_P30505

Post-translational modifications:

  • Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets the
  • protein for rapid degradation via the ubiquitin system (By similarity)1
  • View neXtProt modification sites for NX_P30505

  • ENSG00000206435 Protein expression data from MOPED and PaxDb:    About this image 
    ENSG00000206435 Protein Expression

    ENSEMBL proteins: 
     ENSP00000372979   ENSP00000372975   ENSP00000403541   ENSP00000431141   ENSP00000383195  
     ENSP00000436842   ENSP00000411867  
    Reactome Protein details: P30505 Q95604 Q07000 Q9TNN7 P30504
    Human Recombinant Protein Products for ENSG00000206435: 
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    Uscn Proteins for ENSG00000206435

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005886plasma membrane ----
    GO:0012507ER to Golgi transport vesicle membrane ----
    GO:0016021integral to membrane ----
    GO:0030670phagocytic vesicle membrane ----

    ENSG00000206435 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

    ENSG00000206435 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR007110 Ig-like_dom
     IPR013783 Ig-like_fold
     IPR010579 MHC_I_a_C
     IPR003006 Ig/MHC_CS
     IPR011161 MHC_I-like_Ag-recog

    Graphical View of Domain Structure for InterPro Entry Q95604
    Graphical View of Domain Structure for InterPro Entry Q07000
    Graphical View of Domain Structure for InterPro Entry Q9TNN7
    Graphical View of Domain Structure for InterPro Entry P30504
    Graphical View of Domain Structure for InterPro Entry P30505

    ProtoNet protein and cluster: Q95604

    3 Blocks protein families:
    IPB001039 MHC class I signature
    IPB003597 Immunoglobulin C-type
    IPB010579 MHC_I


    UniProtKB/Swiss-Prot: 1C17_HUMAN, Q95604
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C15_HUMAN, Q07000
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C05_HUMAN, Q9TNN7
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C04_HUMAN, P30504
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C08_HUMAN, P30505
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    (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

    Molecular Function:
    UniProtKB/ Summary: 1C17_HUMAN, Q95604 (see all)
    Function: Involved in the presentation of foreign antigens to the immune system

    Animal Models:

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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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/21        Reactome Pathways for ENSG00000206435 (see all 21)
        Endosomal/Vacuolar pathway
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Interferon alpha/beta signaling
    Expression of IFN-induced genes
    ER-Phagosome pathway



    ENSG00000206435 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSG00000206435

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/164 Interacting proteins for ENSG00000206435 (P305042, 3 ENSP000003729754) via UniProtKB, MINT, STRING, and/or I2D (see all 164)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MP617692, ENSP000003408584MINT-24804 STRING: ENSP00000340858
    CALRENSP000003208664STRING: ENSP00000320866
    CANXENSP000002474614STRING: ENSP00000247461
    CD44ENSP000002783854STRING: ENSP00000278385
    CD8AENSP000002836354STRING: ENSP00000283635
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I ----
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent ----
    GO:0002480antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent ----
    GO:0006955immune response ----
    GO:0019221cytokine-mediated signaling pathway ----

    ENSG00000206435 for ontologies           About GeneDecksing



    (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 ENSG00000206435
    Search CenterWatch for drugs/clinical trials and news about ENSG00000206435 / 1C08 

    (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,
    RNAi Products from EMD Millipore,
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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

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488240 ENST00000486729 ENST00000461470 ENST00000383487 ENST00000383483
    ENST00000458668 ENST00000485321 ENST00000400341(uc011jhy.2 uc011jia.2 uc011jib.2)
    ENST00000461937 ENST00000449884 ENST00000470176(uc011jig.1) ENST00000464623


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    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

    ENSG00000206435 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    ENSG00000206435 Expression
    About this image
    See ENSG00000206435 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for ENSG00000206435

    Primer
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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
      --

    ENSEMBL Gene Tree for ENSG00000206435 (if available)
    TreeFam Gene Tree for ENSG00000206435 (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

    UniProtKB/Swiss-Prot: 1C08_HUMAN, P30505
    Polymorphism: The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that of
    Cw*17:01
    Polymorphism: The following alleles of Cw-15 are known: Cw*15:02, Cw*15:03, Cw*15:04, Cw*15:05, Cw*15:10 and Cw*15:11.
    The sequence shown is that of Cw*15:02
    Polymorphism: The following alleles of Cw-5 are known: Cw*05:01 Cw*0502, Cw*05:03 and Cw*05:04. The sequence shown is
    that of Cw*05:01
    Polymorphism: The following alleles of Cw-4 are known: Cw*04:01 Cw*04:03, Cw*04:04, Cw*04:05 and Cw*04:06. The sequence
    shown is that of Cw*04:01
    Polymorphism: The following alleles of Cw-8 are known: Cw*08:01 (Cw8.1), Cw*08:02 (Cw8.2) and Cw*08:03. The sequence
    shown is that of Cw*08:01

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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

    ENSG00000206435 for disorders           About GeneDecksing

    3 diseases for ENSG00000206435:    About MalaCards
    t-cell leukemia    immunodeficiency    leukemia


    Export disorders for ENSG00000206435 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 ENSG00000206435 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ENSG00000206435)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Unusual HLA-B alleles in two tribes of Brazilian Indians. (PubMed id 1317015)2 Belich M.P.... Parham P. (1992)
    2. The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes. (PubMed id 1384166)2 Zemmour J.... Parham P. (1992)

    (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
    Ensembl:ENSG00000206435

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ENSG00000206435 gene:
    Search GeneIP for patents involving ENSG00000206435

    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 , 26 Apr 2013 , 13 May 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 


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