Tbio Q29865 HLA class I histocompatibility antigen, Cw-18 alpha chain

Protein Summary

Description

Involved in the presentation of foreign antigens to the immune system. HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q29865
• O78203
• P79498

Gene Name

• HLA-C

Ensembl ID

• ENST00000420206
• ENSP00000410214
• ENSG00000228299

Symbol

• HLAC
• MHC
• HLAC
• HLC-C
• D6S204
• PSORS1
• HLA-JY3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0
biological term	0
cell line	0
cell type or tissue	0
cellular component	0

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1553.1   (req: < 5)

Gene RIFs: 304   (req: <= 3)

Antibodies: 0   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1553.1   (req: >= 5)

Gene RIFs: 304   (req: > 3)

Antibodies: 0   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (290)

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1 – 10 of 290

• See Interactions on String-DB

B2M

Tbio

Novelty:  0.00011248

Score:  0.999

Data Source:  STRINGDB

KIR2DL3

Tbio

Novelty:  0.00599644

Score:  0.995

Data Source:  STRINGDB

KIR2DL1

Tbio

Novelty:  0.00523657

Score:  0.994

Data Source:  STRINGDB

Q09160

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P30450

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P01892

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P30455

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P13746

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P16188

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

P01891

Tbio

Novelty:  0.00270731

Score:  0.984

Data Source:  STRINGDB

Nearest Tclin Targets (2)

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Downstream (2)

1 – 2 of 2

MAP2K1

Tclin

Family:  Kinase

KEGG Distance:  6

Common Pathways:  7

1: Kaposi sarcoma-associated herpesvirus infection

2: Human T-cell leukemia virus 1 infection

3: Natural killer cell mediated cytotoxicity

4: Human papillomavirus infection

more:  3 more common pathways

MAP2K2

Tclin

Family:  Kinase

KEGG Distance:  6

Common Pathways:  7

1: Kaposi sarcoma-associated herpesvirus infection

2: Human T-cell leukemia virus 1 infection

3: Natural killer cell mediated cytotoxicity

4: Human papillomavirus infection

more:  3 more common pathways

Pathways (40)

Reactome (15)

KEGG (19)

WikiPathways (6)

Adaptive Immune System (R-HSA-1280218)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Adaptive Immune System	894 targets	R-HSA-1280218
Reactome	Antigen Presentation: Folding, assembly and peptide loading of class I MHC	92 targets	R-HSA-983170
Reactome	Antigen processing-Cross presentation	169 targets	R-HSA-1236975
Reactome	Class I MHC mediated antigen processing & presentation	437 targets	R-HSA-983169
Reactome	Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Name	Explore in Pharos	Explore in Source
Adaptive Immune System	894 targets	R-HSA-1280218
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	92 targets	R-HSA-983170
Antigen processing-Cross presentation	169 targets	R-HSA-1236975
Class I MHC mediated antigen processing & presentation	437 targets	R-HSA-983169
Cytokine Signaling in Immune system	922 targets	R-HSA-1280215

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (18)

Functions (1)

Components (11)

Processes (6)

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10

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GO Term	Evidence	Assigned by
peptide antigen binding	Inferred from Sequence or structural Similarity (ISS)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (700)

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5

1 – 5 of 700

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	ENSG00000204525	4	9	10		99.7
lymphocyte count	EFO_0004587	ENSG00000225691	4	9	10		99.7
lymphocyte count	EFO_0004587	ENSG00000237022	4	9	30		99.7
lymphocyte count	EFO_0004587	ENSG00000206435	4	9	50		99.7
lymphocyte count	EFO_0004587	ENSG00000206452	4	9	50		99.7

Items per page:

5

1 – 5 of 700

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	10		99.7
lymphocyte count	EFO_0004587	10		99.7
lymphocyte count	EFO_0004587	30		99.7
lymphocyte count	EFO_0004587	50		99.7
lymphocyte count	EFO_0004587	50		99.7

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UniProt Keyword Find Similar Targets

No Header	No Header
Complete proteome
Disulfide bond
Glycoprotein
Immunity
Membrane
MHC I
Polymorphism
Reference proteome
Signal
Transmembrane

GWAS Trait Find Similar Targets

No Header	No Header
adrenomedullin measurement
adult onset asthma
age at diagnosis
age at onset
aging
albumin:globulin ratio measurement
allergic rhinitis
allergy
angiopoietin-1 receptor measurement
ankylosing spondylitis

IDG Resources

No IDG generated resources found

Orthologs (1)

1 – 1 of 1

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	major histocompatibility complex, class I, C		471962

Species	Name	OMA	EggNOG	Inparanoid
Chimp	major histocompatibility complex, class I, C

Publication Statistics

PubMed Score 1553.10

PubMed score by year

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PubTator Score 2752.35

PubTator score by year

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Related Publications

Text Mined References (805)

GeneRif Annotations (304)

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PMID	Year	Title