HLA-C (major histocompatibility complex, class I, C)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3107 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Major histocompatibility complex, class I, C |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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HLA-C |
SynonymsGene synonyms aliases
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D6S204, HLA-JY3, HLAC, HLC-C, MHC, PSORS1 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p21.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000139 |
Component |
Golgi membrane |
TAS |
|
GO:0002250 |
Process |
Adaptive immune response |
IEA |
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GO:0002474 |
Process |
Antigen processing and presentation of peptide antigen via MHC class I |
TAS |
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GO:0002479 |
Process |
Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
TAS |
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GO:0002480 |
Process |
Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent |
TAS |
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GO:0002486 |
Process |
Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent |
IDA |
22031944 |
GO:0005515 |
Function |
Protein binding |
IPI |
18322206, 18624290, 19858347, 27649529, 28546555, 28685972 |
GO:0005783 |
Component |
Endoplasmic reticulum |
IDA |
20946353 |
GO:0005794 |
Component |
Golgi apparatus |
IDA |
20946353 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
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GO:0005887 |
Component |
Integral component of plasma membrane |
NAS |
1384166, 2708822, 2787363, 2843461 |
GO:0006955 |
Process |
Immune response |
NAS |
1384166, 2708822, 2787363, 2843461 |
GO:0009986 |
Component |
Cell surface |
IDA |
9754572, 22031944 |
GO:0012507 |
Component |
ER to Golgi transport vesicle membrane |
TAS |
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GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016032 |
Process |
Viral process |
IEA |
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GO:0030667 |
Component |
Secretory granule membrane |
TAS |
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GO:0030670 |
Component |
Phagocytic vesicle membrane |
TAS |
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GO:0031901 |
Component |
Early endosome membrane |
TAS |
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GO:0042605 |
Function |
Peptide antigen binding |
IDA |
22031944 |
GO:0042612 |
Component |
MHC class I protein complex |
IDA |
22031944 |
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
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GO:0046977 |
Function |
TAP binding |
IDA |
8617941, 8805302 |
GO:0050776 |
Process |
Regulation of immune response |
TAS |
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GO:0055038 |
Component |
Recycling endosome membrane |
TAS |
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GO:0060333 |
Process |
Interferon-gamma-mediated signaling pathway |
TAS |
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GO:0060337 |
Process |
Type I interferon signaling pathway |
TAS |
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GO:0070062 |
Component |
Extracellular exosome |
HDA |
20458337 |
GO:0071556 |
Component |
Integral component of lumenal side of endoplasmic reticulum membrane |
TAS |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P10321 |
Protein name |
HLA class I histocompatibility antigen, C alpha chain (HLA-C) (HLA-Cw) (Human leukocyte antigen C) |
Protein function |
Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:11172028, PubMed:20104487, PubMed:20439706, PubMed:20972337, PubMed:24091323, PubMed:28649982, PubM |
PDB |
1EFX
,
1IM9
,
1QQD
,
3BZF
,
4NT6
,
5VGD
,
5VGE
,
5W67
,
5W69
,
5W6A
,
6JTO
,
6PA1
,
6PAG
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00129 |
MHC_I |
25 → 203 |
Class I Histocompatibility antigen, domains alpha 1 and 2 |
Domain |
PF07654 |
C1-set |
211 → 290 |
Immunoglobulin C1-set domain |
Domain |
PF06623 |
MHC_I_C |
338 → 365 |
MHC_I C-terminus |
Family |
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Sequence |
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Sequence length |
366 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Arthritis |
Arthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
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Burkitt`s lymphoma |
Burkitt Lymphoma |
rs28933407, rs121918683, rs121918684 |
25163702 |
Glioma |
Glioma, mixed gliomas, Malignant Glioma |
rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 |
14511464 |
Lymphoblastic leukemia |
Precursor B-cell lymphoblastic leukemia, Precursor B-cell acute lymphoblastic leukemia |
rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 |
25163702 |
Psoriasis |
Psoriasis |
rs281875215, rs587777763, rs281875213, rs281875212 |
19169254, 20953190 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
21156761 |
Sarcoidosis |
Sarcoidosis |
rs2076530 |
22952805 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
24365204, 22883433 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Palmoplantar pustules |
Pustulosis of Palms and Soles |
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19169254, 20953190 |
Psoriasiform eczema |
Psoriasiform eczema |
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Psoriatic arthritis |
Arthritis, Psoriatic |
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20953186 |
Stevens-johnson syndrome |
Toxic Epidermal Necrolysis, Stevens-Johnson Syndrome, Drug-Induced Stevens Johnson Syndrome, Mycoplasma-Induced Stevens-Johnson Syndrome, Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum |
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19629158 |
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