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

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)
About This Section

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

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 73), 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 ENSG00000228299
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 pter      End:
31,232,108 bp from pter
Size:
3,372 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: 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)
Subcellular location: Membrane; Single-pass type I membrane protein
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)
Subcellular location: Membrane; Single-pass type I membrane protein
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)
Subcellular location: Membrane; Single-pass type I membrane protein
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)
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • UniProtKB: 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)
  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30501

  • ENSG00000228299 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENSG00000228299 Protein Expression

    ENSEMBL proteins: 
     ENSP00000404526   ENSP00000397867   ENSP00000393458   ENSP00000433088   ENSP00000410214  
     ENSP00000391250  
    Reactome Protein details: Q29963 P30508 Q29865 P30501
    Human Recombinant Protein Products for ENSG00000228299: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

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

    ENSG00000228299 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
    5/8 InterPro protein domains (see all 8):
     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,
    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

    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ENSG00000228299 for ontologies           About GeneDecksing


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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

    Pathways by sourceSee SuperPaths
    Show all pathways


    5/12        Reactome Pathways for ENSG00000228299 (see all 12)
        Endosomal/Vacuolar pathway
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Interferon alpha/beta signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system



    ENSG00000228299 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ENSG00000228299

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

    5/126 Interacting proteins for ENSG00000228299 (ENSP000003978674) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MENSP000003408584STRING: 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:0019048modulation by virus of host morphology or physiology ----

    ENSG00000228299 for ontologies           About GeneDecksing



    (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 ENSG00000228299 (1C02)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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

    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

    miRNA
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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

    ENSG00000228299 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ENSG00000228299 Expression
    About this image


    See ENSG00000228299 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for ENSG00000228299
    Primer
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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)
    About This Section
      --

    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)
    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

    UniProtKB/Swiss-Prot: 1C02_HUMAN, P30501
    Polymorphism: 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
    Polymorphism: 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
    Polymorphism: 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
    Polymorphism: 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

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    (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
    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

  • 2 diseases for ENSG00000228299:    About MalaCards
    choriocarcinoma    psoriasis


    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)
    About This Section

    PubMed articles for ENSG00000228299 gene integrated from 9 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. (2009)
    2. Diversity and diversification of HLA-A,B,C alleles. (PubMed id 2715640)2 Parham P.... Ennis P.D. (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. (1989)

    (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:ENSG00000228299

    (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 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, 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: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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