ENSG00000228299 Gene
protein-coding GIFtS: 17
GCID: GC06Mk31228 (predicted)
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ENSG00000228299
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Aliases
for ENSG00000228299 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
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 |
Export aliases for ENSG00000228299 gene to outside databases |
Summaries
for ENSG00000228299 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/: 1C02_HUMAN, P30501 (see all)Function: Involved in the presentation of foreign antigens to the immune system
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Genomic Views
for ENSG00000228299 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 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 ENSG00000228299
Other transcription factors
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: view genomic region
(about GC identifiers)
Start:
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31,228,737 bp from pter |
End:
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31,232,108 bp from pter |
Size:
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3,372 bases |
Orientation:
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minus strand |
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Proteins
for ENSG00000228299 gene
(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: 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 MIR1protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: P30502UniProtKB/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 MIR1protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O19505 O78063 Q29989UniProtKB/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 MIR1protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O02863 O19652 O62882 O78062 O78166 O78211 O78214 P30509 Q29768 Q31627 Q860R1Q860R2 Q99528 Q9GIK4 Q9TPS4 Q9UM32 Q9UM33UniProtKB/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 MIR1protein (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: O78203 P79498Explore the universe of human proteins at neXtProt for ENSG00000228299: NX_Q29865
Post-translational modifications:
Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets theprotein 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 theprotein for rapid degradation via the ubiquitin system (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q29865
ENSG00000228299 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000404526 ENSP00000397867 ENSP00000393458 ENSP00000433088 ENSP00000410214 ENSP00000391250 Reactome Protein details: Q29963 P30508 Q29865 P30501
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
ENSG00000228299 for ontologies About GeneDecksing
ENSG00000228299 Antibody Products:
Assay Products for ENSG00000228299: |
Protein
Domains /
Families
for ENSG00000228299 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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ENSG00000228299 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P30501Graphical View of Domain Structure for InterPro Entry Q29963Graphical View of Domain Structure for InterPro Entry P30508Graphical View of Domain Structure for InterPro Entry Q29865ProtoNet protein and cluster: P30501 3 Blocks protein families: IPB001039 MHC class I signature IPB003597 Immunoglobulin C-type IPB010579 MHC_I
UniProtKB/Swiss-Prot: 1C02_HUMAN, P30501Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C06_HUMAN, Q29963Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C12_HUMAN, P30508Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C18_HUMAN, Q29865Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain |
Function
for ENSG00000228299 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Function Summary:
UniProtKB/: 1C02_HUMAN, P30501 (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 ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0032393 | MHC class I receptor activity |
-- | -- |
ENSG00000228299 for ontologies About GeneDecksing
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Pathways & Interactions
for ENSG00000228299 gene
(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
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Pathway sources
See GeneCards unified pathways
Show all pathways
5/19 
Reactome Pathways for ENSG00000228299 (see all 19)
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)About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
-- | -- | | GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
-- | -- | | GO:0002480 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent |
-- | -- | | GO:0006955 | immune response |
-- | -- | | GO:0019221 | cytokine-mediated signaling pathway |
-- | -- |
ENSG00000228299 for ontologies About GeneDecksing
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Drugs & Compounds
for ENSG00000228299 gene(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 Tocris compounds for ENSG00000228299
Search CenterWatch for drugs/clinical trials and news about ENSG00000228299 / 1C18 
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Transcripts
for ENSG00000228299 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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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
GeneLoc Exon Structure
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Expression
for ENSG00000228299 gene
(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
CGAP TAG: --
About this image
See ENSG00000228299 Protein Expression from SPIRE MOPED and PaxDB SABiosciences Custom PCR Arrays for ENSG00000228299
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat ENSG00000228299 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENSG00000228299 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENSG00000228299 |
Orthologs
for ENSG00000228299 gene
(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
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--
ENSEMBL Gene Tree for ENSG00000228299 (if available)
TreeFam Gene Tree for ENSG00000228299 (if available) |
Paralogs
for ENSG00000228299 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ENSG00000228299 gene(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: 1C18_HUMAN, Q29865Polymorphism: The following alleles of Cw-2 are known: Cw*02:01 (Cw2.1) and Cw*02:02 (Cw2.2). The sequence shown isthat of Cw*02:01Polymorphism: The following alleles of Cw-6 are known: Cw*06:02 Cw*06:03 and Cw*06:04. Allele Cw*062 is a risk factorthat confers susceptibility to psoriasis. The sequence shown is that of Cw*06:02Polymorphism: 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*12:02Polymorphism: The following alleles of Cw-18 are known: Cw*18:01 (Cw*04GB) and Cw*18:02 (Cw*18GB). The sequence shownis that of Cw*18:01
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for ENSG00000228299 gene
(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
|
ENSG00000228299 for disorders About GeneDecksing
UniProtKB/Swiss-Prot: 1C18_HUMAN, Q29865
Genetic variations in HLA-C are a cause of susceptibility to psoriasis type 1 (PSORS1) [MIM:177900]. Psoriasisis a common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scalyplaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferationand infiltration of inflammatory cells into the dermis and epidermis
2  diseases for ENSG00000228299: About MalaCardschoriocarcinoma psoriasis
Export disorders for ENSG00000228299 gene to outside databases
|
Publications
for ENSG00000228299 gene (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
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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 |
- Cloning and sequencing full-length HLA-B and -C genes. (PubMed id 12622774)2 Cox S.T.... Little A.-M. (2003)
- Sequence of four new HLA-Cw alleles: a possible role of interallelic recombination. (PubMed id 9459506)2 Grundschober C....Tiercy J.-M. (1998)
- The novel HLA-Cw*1802 allele is associated with B*5703 in the Bubi population from Equatorial Guinea. (PubMed id 9234488)2 Vilches C....Kreisler M. (1997)
- Molecular cloning of two new HLA-C alleles: Cw*1801 and Cw*0706. (PubMed id 9008313)2 Vilches C.... Kreisler M. (1996)
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External Searches for ENSG00000228299 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing ENSG00000228299 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ENSG00000228299 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ENSG00000228299 gene(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
|
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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
|
Products
for ENSG00000228299 gene(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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ENSG00000228299 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ENSG00000228299 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENSG00000228299 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ENSG00000228299 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ENSG00000228299 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ENSG00000228299 |
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 | | | | |  |  |  | | | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ENSG00000228299 |
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