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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| HLA-C | 3107 | major histocompatibility complex, class I, C | 6 | - |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 17197922 | 2007 | Cell line : - Source : - Sample Type : CRC tumor and normal tissues No. of Sample : 291 stages II and III CRC and 126 normal tissue Stage : TNM stage II ,III. | - | Down-regulation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Histocompatibility complex, "Immunoglobulin superfamily / C1-set domain containing" |
| Description | 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] | Chromosome | 6 |
| Location | 6p21.3 |
| Start | 31236526 |
| End | 31239913 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 3388 |
| OMIM ID | 142840 |
| HGNC ID | HGNC:4933 |
| Unigene ID | Hs.656020 |
| Ensembl ID | ENSG00000204525 |
| PharmGKB ID | PA35057 |
mRNA Information
| mRNA ID | NM_002117.5 |
|---|---|
| Exon | join(1..138,269..538,789..1064,1652..1927,2052..2171, 2612..2644,2752..2799,2964..3388) | mRNA Sequence | Download Select all |
| Length | 1586 |
Protein Information
| Protein ID | NP_002108.4 |
|---|---|
| Protein Name | major histocompatibility complex, class I, C |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 366 |
| Uniprot ID | O15444 |
| Ensembl Protein ID | ENSP00000253451 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| N | Glycosylation | 110 |
| N | Glycosylation | 109 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 567 | B2M | 189 | NP_004039.1 | in vitro | 2450918 |
| 811 | CALR | 169 | NP_004334.1 | in vivo | 8769474 |
| 3309 | HSPA5 | 682 | NP_005338.1 | in vivo | 7957306 |
| 3802 | KIR2DL1 | 12000 | NP_055033.2 | in vitro | 10 429 675 937 897 500 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 000 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Allograft rejection | hsa05330 |
| Antigen processing and presentation | hsa04612 |
| Autoimmune thyroid disease | hsa05320 |
| Cell adhesion molecules (CAMs) | hsa04514 |
| Endocytosis | hsa04144 |
| Epstein-Barr virus infection | hsa05169 |
| Graft-versus-host disease | hsa05332 |
| Herpes simplex infection | hsa05168 |
| HTLV-I infection | hsa05166 |
| Natural killer cell mediated cytotoxicity | hsa04650 |
| Phagosome | hsa04145 |
| Type I diabetes mellitus | hsa04940 |
| Viral carcinogenesis | hsa05203 |
| Viral myocarditis | hsa05416 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd07698 | 207-299 | IgC_MHC_I_alpha3 |
| cl11960 | 207-299 | Ig superfamily |
| pfam00129 | 26-203 | MHC_I |
| cl08246 | 26-203 | MHC_I superfamily |
| pfam07654 | 214-295 | C1-set |
| smart00407 | 222-293 | IGc1 |
| cd00098 | 216-299 | IgC |
| cd05766 | 208-300 | IgC_MHC_II_beta |
| cd05767 | 208-299 | IgC_MHC_II_alpha |
| cd05770 | 208-299 | IgC_beta2m |
| cd05768 | 209-297 | IgC_CH4 |
| cd07699 | 223-297 | IgC_L |
| cd05771 | 207-297 | IgC_Tapasin_R |
| cd05772 | 205-294 | IgC_SIRP |
| cd00096 | 223-289 | Ig |
| cd04985 | 217-296 | IgC_CH1 |
| cd05769 | 223-260 | IgC_TCR_beta |
Ontology Information
| HPRD ID | 5329 |
|---|---|
| Molecular Class | MHC complex protein |
| Molecular Function | Chemokine activity (GO:0008009) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.