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HLA-C (major histocompatibility complex, class I, C)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3107
Gene nameGene Name - the full gene name approved by the HGNC.
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.
HLA-C
SynonymsGene synonyms aliases
D6S204, HLA-JY3, HLAC, HLC-C, MHC, PSORS1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT051644 hsa-let-7e-5p CLASH 23622248
MIRT042611 hsa-miR-423-3p CLASH 23622248
MIRT041720 hsa-miR-484 CLASH 23622248
MIRT487939 hsa-miR-6854-5p PAR-CLIP 23592263
MIRT487938 hsa-miR-148a-3p PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
CIITA Activation 11053628
HIVEP2 Unknown 1409593
MYC Activation 8206526
MYCN Unknown 8895520
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0002250 Process Adaptive immune response IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
GO:0002480 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Sequence
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.
 
KEGG
 
Reactome
  Endocytosis
Phagosome
Cellular senescence
Cell adhesion molecules
Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Viral carcinogenesis
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease
Viral myocarditis
  ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
Neutrophil degranulation
Interferon gamma signaling
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
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
Unknown
Disease name Disease term dbSNP ID References
Palmoplantar pustules Pustulosis of Palms and Soles 19169254, 20953190
Psoriasiform eczema Psoriasiform eczema
Psoriatic arthritis Arthritis, Psoriatic 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 19629158

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