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ENSG00000228299 Gene

protein-coding   GIFtS: 16
GCID: GC06Mk31228          (predicted)

ENSG00000228299


  See related diseases
at  

(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
HLAC3
MHC Class I Antigen Cw*123
MHC Class I Antigen Cw*183
MHC Class I Antigen Cw*23
MHC Class I Antigen Cw*63

External Ids:    Ensembl: ENSG000002282997   UniProtKB: Q299633   UniProtKB: P305083   UniProtKB: Q298653   UniProtKB: P305013   

Export aliases for ENSG00000228299 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000228299 Gene:
ENSG00000228299 is a protein-coding gene. Diseases associated with ENSG00000228299 include choriocarcinoma, and psoriasis.

UniProtKB/Swiss-Prot: 1C06_HUMAN, Q29963 (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000228299
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENSG00000228299

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000228299


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_DBBp21.33   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mk31228:       (about GC identifiers)

Start:
31,228,737 bp from start of contig ALT_REF_LOCI_3      End:
31,232,108 bp from start of contig ALT_REF_LOCI_3
Size:
3,372 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 1C06_HUMAN, Q29963 (See protein sequence)
Recommended Name: HLA class I histocompatibility antigen, Cw-6 alpha chain precursor  
Size: 366 amino acids; 40969 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8
MIR1 protein (By similarity)
Secondary accessions: O19505 O78063 Q29989

UniProtKB/Swiss-Prot: 1C12_HUMAN, P30508 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-12 alpha chain precursor  
Size: 366 amino acids; 40886 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8
MIR1 protein (By similarity)
Secondary accessions: O02863 O19652 O62882 O78062 O78166 O78211 O78214 P30509 Q29768 Q31627
Q860R1 Q860R2 Q99528 Q9GIK4 Q9TPS4 Q9UM32 Q9UM33

UniProtKB/Swiss-Prot: 1C18_HUMAN, Q29865 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-18 alpha chain precursor  
Size: 366 amino acids; 40933 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8
MIR1 protein (By similarity)
Secondary accessions: O78203 P79498

UniProtKB/Swiss-Prot: 1C02_HUMAN, P30501 (See protein sequence)

Recommended Name: HLA class I histocompatibility antigen, Cw-2 alpha chain precursor  
Size: 366 amino acids; 41095 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8
MIR1 protein (By similarity)
Secondary accessions: P30502

Explore the universe of human proteins at neXtProt for ENSG00000228299: NX_P30501

Explore proteomics data for ENSG00000228299 at MOPED

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
  • Polyubiquitinated in a post ER compartment through interaction with human herpesvirus 8 MIR1 protein. This targets
    the protein for rapid degradation via the ubiquitin system (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000228299 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000404526   ENSP00000397867   ENSP00000393458   ENSP00000433088   ENSP00000410214  
     ENSP00000391250  
    Reactome Protein details: Q29963 P30508 Q29865 P30501

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS
     IPR011161 MHC_I-like_Ag-recog
     IPR011162 MHC_I/II-like_Ag-recog
     IPR001039 MHC_I_a_a1/a2

    Graphical View of Domain Structure for InterPro Entry Q29963
    Graphical View of Domain Structure for InterPro Entry P30508
    Graphical View of Domain Structure for InterPro Entry Q29865
    Graphical View of Domain Structure for InterPro Entry P30501

    ProtoNet protein and cluster: Q29963

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


    UniProtKB/Swiss-Prot: 1C06_HUMAN, Q29963
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C12_HUMAN, P30508
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C18_HUMAN, Q29865
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain

    UniProtKB/Swiss-Prot: 1C02_HUMAN, P30501
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    ENSG00000228299 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: 1C06_HUMAN, Q29963 (see all)
    Function: Involved in the presentation of foreign antigens to the immune system

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005515protein binding ----
    GO:0042605peptide antigen binding ----
         
    ENSG00000228299 for ontologies           About GeneDecksing


    Animal Models:
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    (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
    1C06_HUMAN, Q29963: Membrane; Single-pass type I membrane protein
    1C12_HUMAN, P30508: Membrane; Single-pass type I membrane protein
    1C18_HUMAN, Q29865: Membrane; Single-pass type I membrane protein
    1C02_HUMAN, P30501: Membrane; Single-pass type I membrane protein

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane ----
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ----
    GO:0012507ER to Golgi transport vesicle membrane ----
    GO:0016020membrane ----

    ENSG00000228299 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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    Pathways by sourceSee SuperPaths
    Show all pathways


    Selected Reactome Pathways for ENSG00000228299 (see all 6)
        Endosomal/Vacuolar pathway
    Interferon alpha/beta signaling
    Interferon gamma signaling
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell



    ENSG00000228299 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000228299
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000228299

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

    Selected Interacting proteins for ENSG00000228299 (ENSP000003978674) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MENSP000003408584STRING: ENSP00000340858
    CALRENSP000003208664STRING: ENSP00000320866
    CANXENSP000002474614STRING: ENSP00000247461
    CD44ENSP000002783854STRING: ENSP00000278385
    CD8AENSP000002836354STRING: ENSP00000283635
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity ----
    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 ----

    ENSG00000228299 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 ENSG00000228299 (1C02)



    (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,
    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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    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468663 ENST00000474724 ENST00000495635 ENST00000458192(uc011gar.1)
    ENST00000422921 ENST00000456487 ENST00000479595(uc011gat.1) ENST00000420206(uc011gap.2 uc011gas.2)
    ENST00000495725 ENST00000454033 ENST00000494823(uc011gau.1) ENST00000482179

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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™, 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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000228299 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000228299 Protein Expression
        Custom PCR Arrays for ENSG00000228299
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ENSG00000228299

    (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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      --

    ENSEMBL Gene Tree for ENSG00000228299 (if available)
    TreeFam Gene Tree for ENSG00000228299 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    1C06_HUMAN, Q29963: The following alleles of Cw-6 are known: Cw*06:02 Cw*06:03 and Cw*06:04. Allele Cw*062 is a risk
    factor that confers susceptibility to psoriasis. The sequence shown is that of Cw*06:02
    1C12_HUMAN, P30508: The following alleles of Cw-12 are known: Cw*12:02, Cw*12:03, Cw*12:04, Cw*12:05, Cw*12:06,
    Cw*12:07, Cw*12:08 and Cw*12:09. The sequence shown is that of Cw*12:02
    1C18_HUMAN, Q29865: The following alleles of Cw-18 are known: Cw*18:01 (Cw*04GB) and Cw*18:02 (Cw*18GB). The sequence
    shown is that of Cw*18:01
    1C02_HUMAN, P30501: The following alleles of Cw-2 are known: Cw*02:01 (Cw2.1) and Cw*02:02 (Cw2.2). The sequence shown
    is that of Cw*02:01

    Site Specific Mutation Identification with PCR Assays
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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.)
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    UniProtKB/Swiss-Prot: 1C02_HUMAN, P30501
  • Psoriasis 1 (PSORS1) [MIM:177900]: A common, chronic inflammatory disease of the skin with multifactorial
    etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions
    are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and
    epidermis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 4 diseases for ENSG00000228299:    
    About MalaCards
    choriocarcinoma    psoriasis    multiple myeloma    myeloma


    ENSG00000228299 for disorders           About GeneDecksing


    Export disorders for ENSG00000228299 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 ENSG00000228299 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ENSG00000228299)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    2. Diversity and diversification of HLA-A,B,C alleles. (PubMed id 2715640)2 Parham P.... Ennis P.D. (J. Immunol. 1989)
    3. Complete nucleotide sequence of a unique HLA class I C locus product expressed on the human choriocarcinoma cell line BeWo. (PubMed id 2708822)2 Ellis S.A.... McMichael A.J. (J. Immunol. 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Ensembl:ENSG00000228299

    (According to HUGE)
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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)
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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000228299 gene:
    Search GeneIP for patents involving ENSG00000228299

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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