HLA-C Gene
protein-coding GIFtS: 64
GCID: GC06M031236
|
|
major histocompatibility complex, class I, C (Previous symbols: HLA-JY3, D6S204)
| |
Aliases for HLA-C gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Major Histocompatibility Complex, Class I, C1 2 | | MHC Class I Antigen Cw*143 | | D6S2041 2 3 | | MHC Class I Antigen Cw*153 | | HLA-JY31 2 3 | | MHC Class I Antigen Cw*163 | | PSORS12 5 | | MHC Class I Antigen Cw*173 | | HLC-C2 | | MHC Class I Antigen Cw*183 | | HLA Class I Histocompatibility Antigen, C Alpha Chain2 | | MHC Class I Antigen Cw*23 | | HLA Class I Histocompatibility Antigen, Cw-1 Alpha Chain2 | | MHC Class I Antigen Cw*33 | | Human Leukocyte Antigen-C Alpha Chain2 | | MHC Class I Antigen Cw*43 | | Major Histocompatibility Antigen HLA-C2 | | MHC Class I Antigen Cw*53 | | MHC Class I Antigen Heavy Chain HLA-C2 | | MHC Class I Antigen Cw*63 | | HLAC3 | | MHC Class I Antigen Cw*73 | | MHC Class I Antigen Cw*13 | | MHC Class I Antigen Cw*83 | | MHC Class I Antigen Cw*123 | | |
Export aliases for HLA-C gene to outside databasesPrevious GC identifers: GC06M031290 GC06M031007 GC06M031341 GC06M031344 |
Summaries for HLA-C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for HLA-C: HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavychain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play acentral role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressedin nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes theleader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes thealpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphismswithin exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing forthese polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles havebeen described (provided by RefSeq, Jul 2008) UniProtKB/ace: 1C01_HUMAN, P30499 (see all)Function: Involved in the presentation of foreign antigens to the immune system Gene Wiki entry for HLA-C
|
Genomic Views for HLA-C 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
| RefSeq DNA sequence:- NC_018917.1 NT_113891.2 NC_000006.11 NT_007592.15 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1
- NT_167249.1
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HLA-C gene promoter: USF1 AP-1 ATF-2 CUTL1 AP-2gamma POU2F1 USF-1 ARP-1 c-Jun ATF6 Other transcription factors
Search SABiosciences Chromatin IP Primers for HLA-C
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-C |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.3HLA-C Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M031236: view genomic region
(about GC identifiers)
Start:
|
31,236,526 bp from pter |
End:
|
31,239,907 bp from pter |
Size:
|
3,382 bases |
Orientation:
|
minus strand |
3 alternative locations:
| Chr6-,ALT_REF_LOCI_4 31,203,083-31,206,399 | Chr6-,ALT_REF_LOCI_2 31,227,577-31,270,094 | Chr6-,ALT_REF_LOCI_5 31,228,489-31,231,805 | |
|
Proteins for HLA-C 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: 1C01_HUMAN, P30499 (See
protein sequence)Recommended Name: HLA class I histocompatibility antigen, Cw-1 alpha chain precursor Size: 366 amino acids; 40965 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: O02865 O19676 P30500 Q29986 Q9UQS9UniProtKB/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: 1C03_HUMAN, P04222 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-3 alpha chain precursor Size: 366 amino acids; 40861 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
1 PDB 3D structure from and Proteopedia for HLA-C:1EFX (3D)
 
Secondary accessions: O62883 O78060 O78068 O78069 P30503 Q29743 Q29992 Q29993 Q9GIK8 Q9TQB4UniProtKB/Swiss-Prot: 1C04_HUMAN, P30504 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-4 alpha chain precursor Size: 366 amino acids; 40995 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1protein (By similarity). Interacts with HTLV-1 p12I accessory protein
Subcellular location: Membrane; Single-pass type I membrane protein
2 PDB 3D structures from and Proteopedia for HLA-C:1IM9 (3D)
  1QQD (3D)
 
Secondary accessions: O78067 O78072 O78090 O78149 Q29921 Q9UM42UniProtKB/Swiss-Prot: 1C05_HUMAN, Q9TNN7 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-5 alpha chain precursor Size: 366 amino acids; 40912 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: O02866 O62888 Q9TPV8 Q9TPX2UniProtKB/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: 1C07_HUMAN, P10321 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-7 alpha chain precursor Size: 366 amino acids; 40649 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
1 PDB 3D structure from and Proteopedia for HLA-C:3BZF (3D)
 
Secondary accessions: O78061 O78083 Q29631 Q29652 Q29867 Q29990 Q95463 Q95603 Q9MY31 Q9TQP9UniProtKB/Swiss-Prot: 1C08_HUMAN, P30505 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-8 alpha chain precursor Size: 366 amino acids; 40773 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: P30506 P30507UniProtKB/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: 1C14_HUMAN, P30510 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-14 alpha chain precursor Size: 366 amino acids; 40838 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: O62879 O78178 Q29641 Q30192 Q9MY35 Q9TQJ5UniProtKB/Swiss-Prot: 1C15_HUMAN, Q07000 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-15 alpha chain precursor Size: 366 amino acids; 40863 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: O78165 Q29864 Q29991 Q31605 Q9BD28 Q9GJ33 Q9MY49UniProtKB/Swiss-Prot: 1C16_HUMAN, Q29960 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-16 alpha chain precursor Size: 366 amino acids; 40753 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1protein (By similarity)
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform 2: Secreted
Secondary accessions: O78091 O78202 Q29862 Q29959 Q9MY74 Q9MYI3 Q9TNZ8Alternative splicing: 2 isoforms: Q29960-1 Q29960-2 UniProtKB/Swiss-Prot: 1C17_HUMAN, Q95604 (See
protein sequence) Recommended Name: HLA class I histocompatibility antigen, Cw-17 alpha chain precursor Size: 372 amino acids; 41238 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: O02864 O02958 Q29643 Q9MY30Alternative splicing: 2 isoforms: Q29960-1 Q29960-2 UniProtKB/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 P79498Alternative splicing: 2 isoforms: Q29960-1 Q29960-2 Explore the universe of human proteins at neXtProt for HLA-C: 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 HLA-C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001229971.1 NP_002108.4 ENSEMBL proteins: ENSP00000365402 ENSP00000372819 ENSP00000379553 ENSP00000365412 ENSP00000400410 ENSP00000440406 Reactome Protein details: Q95604 P30499 Q07000 P30508 Q9TNN7 P30501 P30510 P30504 Q29963 P30505 Q29865 P10321 Q29960 P04222 Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
HLA-C for ontologies About GeneDecksing
HLA-C Antibody Products: Assay Products for HLA-C: |
Protein
Domains / Families for HLA-C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HLA-C for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P30499Graphical View of Domain Structure for InterPro Entry P30501Graphical View of Domain Structure for InterPro Entry P04222Graphical View of Domain Structure for InterPro Entry P30504Graphical View of Domain Structure for InterPro Entry Q9TNN7Graphical View of Domain Structure for InterPro Entry Q29963Graphical View of Domain Structure for InterPro Entry P10321Graphical View of Domain Structure for InterPro Entry P30505Graphical View of Domain Structure for InterPro Entry P30508Graphical View of Domain Structure for InterPro Entry P30510Graphical View of Domain Structure for InterPro Entry Q07000Graphical View of Domain Structure for InterPro Entry Q29960Graphical View of Domain Structure for InterPro Entry Q95604Graphical View of Domain Structure for InterPro Entry Q29865ProtoNet protein and cluster: P30499 3 Blocks protein families: IPB001039 MHC class I signature IPB003597 Immunoglobulin C-type IPB010579 MHC_I
UniProtKB/Swiss-Prot: 1C01_HUMAN, P30499Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C02_HUMAN, P30501Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C03_HUMAN, P04222Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C04_HUMAN, P30504Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C05_HUMAN, Q9TNN7Similarity: 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: 1C07_HUMAN, P10321Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C08_HUMAN, P30505Similarity: 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: 1C14_HUMAN, P30510Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C15_HUMAN, Q07000Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C16_HUMAN, Q29960Similarity: Belongs to the MHC class I familySimilarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainUniProtKB/Swiss-Prot: 1C17_HUMAN, Q95604Similarity: 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 HLA-C 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
| Function Summary: UniProtKB/ace: 1C01_HUMAN, P30499 (see all)Function: Involved in the presentation of foreign antigens to the immune system Genatlas biochemistry entry for HLA-C:HLA-C,alpha chain,44kDa,class Ia (see MHC1)
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HLA-C (NM_002117) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-C  |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0032393 | MHC class I receptor activity |
NAS | 1384166 |
HLA-C for ontologies About GeneDecksing
|
Pathways & Interactions for HLA-C 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
| Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Translocation of peptide bound MHC class I complex to cell surface | | | 2 | Immune System | | | 3 | Ubiquitinated Orc1 is degraded by the proteasome | | | 4 | Cytokine Signaling in Immune system | | | 5 | Expression of IFN-induced genes | |
Pathway sources See GeneCards unified pathways Show all pathways
2 EMD Millipore Pathways for HLA-C 2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-C 2 GeneGo (Thomson Reuters) Pathways for HLA-C 1 BioSystems Pathway for HLA-C 
5/21
Reactome Pathways for HLA-C (see all 21)
5/10
Kegg Pathways (Kegg details for HLA-C) (see all 10):
HLA-C for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HLA-C
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/72 Interacting proteins for HLA-C (Q070002, 3 ENSP000003654024 P305042, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 72)About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I |
TAS | -- | | GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent |
TAS | -- | | GO:0002480 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent |
TAS | -- | | GO:0006955 | immune response |
NAS | 1384166 | | GO:0019048 | virus-host interaction |
IEA | -- |
HLA-C for ontologies About GeneDecksing
|
Drugs & Compounds for HLA-C 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
|
HLA-C for compounds About GeneDecksing
Browse Tocris compounds for HLA-C 1 PharmGKB related drug/compound annotation for HLA-C gene
| Drug/compound |
PharmGKB Annotation | | nevirapine | CA   | About this table
Search CenterWatch for drugs/clinical trials and news about HLA-C / 1C18 
|
Transcripts for HLA-C 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
| REFSEQ mRNAs for HLA-C gene (2 alternative transcripts): NM_001243042.1 NM_002117.5 Unigene Clusters for HLA-C: Major histocompatibility complex, class I, C Hs.656020 [show with all ESTs], Hs.743218 [show with all ESTs]Unigene Representative Sequences: NR_027822, BM45514012 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000466892 ENST00000470363 ENST00000487245(uc011dnj.2) ENST00000376228 ENST00000383329(uc021yuk.1) ENST00000396254 ENST00000376237(uc003nsy.3 uc011dnl.2) ENST00000458701 ENST00000415537 ENST00000495835 ENST00000484378 ENST00000539307
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HLA-C (NM_002117) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HLA-C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-C  |
Additional cDNA sequence: AF168611.1 AF196489.1 AF405691.1 AJ005199.1 AJ010748.1 AJ010749.1 AJ440716.2 AJ537578.1 AK024836.1 AK130592.1 AK301283.1 AK304527.1 AM237285.2 AY732487.1 BC002463.1 BC004489.2 BC007814.2 BC008457.1 BC010542.1 BC033293.1 BC041078.1 D12471.1 D31817.1 D38526.1 D49552.1 D49819.1 D49820.1 D50852.1 D50853.1 D50854.1 D64145.1 D64146.1 D64147.1 D64148.1 D64149.1 D64150.1 D64151.1 D64152.1 D83029.1 D83030.1 D83031.1 D83741.1 FN662479.1 JN887337.1 L20091.1 L38251.1 M11886.1 M12679.1 M21963.1 M24031.1 M24096.1 M24097.1 M26429.1 M26430.1 M26431.1 M26712.1 M28160.1 M28206.1 M28207.1 M84171.1 M84172.1 M84173.1 M84174.1 M84386.1 M99388.1 M99389.1 M99390.1 U06487.1 U06695.1 U06696.1 U06835.1 U07230.1 U09853.1 U41386.1 U41420.1 U57028.1 U62824.1 X58536.1 X67818.1 X70856.1 X70857.1 X73518.1 X76189.1 X78343.1 X82122.1 X83394.1 X87841.1 X96582.1 X97321.1 X98742.1 X99704.1 Y09156.1 Y10520.1 Y11843.1 Z15144.1 Z33459.1 Z46809.1 Z46810.1 Z47377.1 Z83247.1 Z83803.1 24/156 DOTS entries (see all 156): DT.95331860 DT.95331815 DT.91783964 DT.97870100 DT.100869596 DT.87018278 DT.121310580 DT.100039972 DT.100802354 DT.91877609 DT.85100906 DT.100860136 DT.100046108 DT.91783937 DT.95331704 DT.87013257 DT.121310323 DT.100857890 DT.87011008 DT.85100728 DT.100866176 DT.100870293 DT.100046124 DT.121310455 24/251 AceView cDNA sequences (see all 251): BX459241 BM917107 BI906452 BQ892338 AL553833 CN480960 BQ719235 AW401719 BX378406 AW402264 CD620604 BM148269 BM561565 AW239462 BQ716678 AL537877 BQ720232 BI912419 BG744129 BM918142 BU788986 F00565 BG327758 BG898693 GeneLoc Exon Structure
|
Expression for HLA-C 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
| HLA-C expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CTGCAGTGTG
About this image See HLA-C Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HLA-C
SOURCE GeneReport for Unigene clusters: Hs.656020 Hs.743218 SABiosciences Custom PCR Arrays for HLA-C
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-C Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat HLA-C | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HLA-C | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-C |
Orthologs for HLA-C 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
|
This gene was present in the common ancestor of chordates.
Orthologs for HLA-C gene from 3/7 species (see all 7) About this table
ENSEMBL Gene Tree for HLA-C (if available) TreeFam Gene Tree for HLA-C (if available)  |
Paralogs for HLA-C gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HLA-C gene
- HLA-F2 MR12 HFE2 HLA-B2 FCGRT2 HLA-E2 HLA-A2 HLA-G2
18/140 SIMAP similar genes for HLA-C using alignment to 3826 protein entries: 1C01_HUMAN (see all proteins)
(see all similar genes):MHC class I Cw*08 HLA-Cw3 HLA-A*0201V3 HLA-Cw*15P Cw HLA-Cw*02023 HLAC HLA-Cw*0707 HLA-Cw*07 MHC HLA-Cw* HLA-Cw*03MAC HLA-Cw HLA-Cw2 HLC-C HLA-Cw*03 HLA-CW
HLA-C for paralogs About GeneDecksing
|
Genomic Variants for HLA-C 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-1 are known: Cw*01:01 (Cw1.1), Cw*01:02 (Cw1.2), Cw*01:03 and Cw*01:04. Thesequence shown is that of Cw*01:01Polymorphism: 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-3 are known: Cw*03:02 (Cw3.2), Cw*03:03, Cw*03:04 (Cw3.1), Cw*03:05,Cw*03:06, Cw*03:07, Cw*03:08, Cw*03:09 and Cw*03:13. The sequence shown is that of Cw*03:04Polymorphism: The following alleles of Cw-4 are known: Cw*04:01 Cw*04:03, Cw*04:04, Cw*04:05 and Cw*04:06. The sequenceshown is that of Cw*04:01Polymorphism: The following alleles of Cw-5 are known: Cw*05:01 Cw*0502, Cw*05:03 and Cw*05:04. The sequence shown isthat of Cw*05:01Polymorphism: 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-7 are known: Cw*07:01, Cw*07:02, Cw*07:03, Cw*07:04, Cw*07:06, Cw*07:09 andCw*07:11. The sequence shown is that of Cw*07:02Polymorphism: The following alleles of Cw-8 are known: Cw*08:01 (Cw8.1), Cw*08:02 (Cw8.2) and Cw*08:03. The sequenceshown is that of Cw*08:01Polymorphism: 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-14 are known: Cw*14:02 (CB-1), Cw*14:03 (CX44) and Cw*14:04. The sequenceshown is that of Cw*14:02Polymorphism: The following alleles of Cw-15 are known: Cw*15:02, Cw*15:03, Cw*15:04, Cw*15:05, Cw*15:10 and Cw*15:11.The sequence shown is that of Cw*15:02Polymorphism: The following alleles of Cw-16 are known: Cw*16:01, Cw*16:02 (CW*CL10V) and Cw*16:04. The sequence shownis that of Cw*16:01Polymorphism: The following alleles of Cw-17 are known: Cw*17:01, Cw*17:02 and Cw*17:03. The sequence shown is that ofCw*17:01Polymorphism: 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
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 6 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HLA-C (31236526 - 31239907 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 10 variations for HLA-C 10 CNVs: 7561 3601 99487 31272 69375 32779 5387 69376 31273 8508 Human Gene Mutation Database (HGMD): HLA-C
Locus Specific Mutation Databases (LSDB): HLA-C
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HLA-C |
|
Disorders
/ Diseases for HLA-C gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HLA-C for disorders About GeneDecksing
OMIM gene information: 142840 OMIM disorders: 177900 609423 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 20/157 diseases for HLA-C (see all 157): About MalaCardsvogt-koyanagi-harada disease hiv-1 viremia htlv-1 associated myelopathy relapsing-remitting multiple sclerosis paroxysmal nocturnal hemoglobinuria toxic epidermal necrolysis stevens-johnson syndrome birdshot chorioretinopathy hypersensitivity reaction type ii disease sympathetic ophthalmia tropical spastic paraparesis pityriasis rosea age related macular degeneration human immunodeficiency virus infectious disease hemolytic-uremic syndrome neuromyelitis optica graft versus host disease sclerosing cholangitis spastic paraparesis lichen planus
20/25 diseases from the University of Copenhagen DISEASES database for HLA-C (see all 25):Hypersensitivity reaction type II disease Leukemia Psoriasis Diabetes mellitus Ankylosing spondylitis Arthritis Multiple sclerosis Liver disease Melanoma Uveitis Hyperthyroidism Lung disease Bone marrow disease Stevens-Johnson syndrome Anemia Vascular disease Psoriatic arthritis Hepatitis B Lymphoma Connective tissue disease
10/11 Novoseek disease relationships for HLA-C gene (see all 11) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| psoriasis |
65.8 |
24 |
10773694 (3), 10545595 (3), 17666781 (2), 10888604 (2) (see all 12) |
| behcet disease |
43.7 |
9 |
8872174 (3), 8896070 (1) |
| skin diseases |
43.3 |
1 |
10888604 (1) |
| arthritis psoriatic |
38.5 |
6 |
15539411 (2), 16313304 (2), 20476959 (1) |
| miscarriage |
29.4 |
1 |
1471708 (1) |
| cholangitis primary sclerosing |
26.4 |
2 |
9731555 (2) |
| hepatitis c |
7.61 |
2 |
16571411 (1), 20456039 (1) |
| leukemia |
0 |
2 |
10366797 (1), 10715516 (1) |
| aids |
0 |
2 |
19115949 (1) |
| tumors |
0 |
3 |
9788622 (1), 12714638 (1), 17023986 (1) |
Genetic Association Database (GAD): HLA-C Human Genome Epidemiology (HuGE) Navigator: HLA-C (2858 documents) Export disorders for HLA-C gene to outside databases
|
Publications for HLA-C 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
|
PubMed articles for HLA-C gene, integrated from 9 sources (see all 826): (articles sorted by number of sources associating them with HLA-C) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort. (PubMed id 15539411)1, 4, 9 Lascorz J....Reis A. (2005)
- The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene. (PubMed id 11348465)1, 4, 9 O'Brien K.P.... Staahle-Baeckdahl M. (2001)
- Association of HLA class I alleles with aloplecia areata in Chinese Hans. (PubMed id 16185849)1, 4 Xiao F.L....Zhang X.J. (2006)
- HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis. (PubMed id 16365741)1, 4 Campillo J.A....Alvarez-Lopez M.R. (2006)
- Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population. (PubMed id 15853898)1, 4 Lee K.W....Yang S.Y. (2005)
- The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis. (PubMed id 15654960)1, 4 Allen M.H....Barker J.N. (2005)
- Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis. (PubMed id 16019679)1, 4 Kaminagayoshi T....Sakamoto T. (2005)
- HLA-Cw*0602 associates more strongly to psoriasis in the Swedish population than variants of the novel 6p21.3 gene PSORS1C3. (PubMed id 15848982)1, 4 Holm S.J....O'Brien K.P. (2005)
- MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies. (PubMed id 16029431)1, 4 Malkki M....Petersdorf E. (2005)
- The region of 150 kb telometic to HLA-C is associated with psoriasis in the Jewish population. (PubMed id 16297191)1, 4 Martinez-Borra J....Lopez-Larrea C. (2005)
|
External Searches for HLA-C gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HLA-C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HLA-C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HLA-C 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
|
|
About This Section
| Patent Information for HLA-C gene: Search GeneIP for patents involving HLA-C
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for HLA-C 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
|
 | |
 | |
 |
| | | | OriGene Antibodies for HLA-C | | OriGene shRNA RFP for HLA-C | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HLA-C | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HLA-C | | OriGene Protein Over-expression Lysate for HLA-C | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for HLA-C | | OriGene 3'-UTR Clone for HLA-C | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HLA-C | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for HLA-C | | OriGene Custom Protein Services for HLA-C | | OriGene Custom Immunoassay Development | | |
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