Aliases for HLA-C Gene
Aliases for HLA-C Gene
- Major Histocompatibility Complex, Class I, C 2 3 5
- HLA-JY3 3 4
- D6S204 3 4
- HLAC 3 4
- HLA Class I Histocompatibility Antigen, Cw-1 Alpha Chain 3
- HLA Class I Histocompatibility Antigen, C Alpha Chain 3
- Major Histocompatibility Antigen HLA-C 3
- MHC Class I Antigen Heavy Chain HLA-C 3
- Human Leukocyte Antigen-C Alpha Chain 3
- Psoriasis Susceptibility 1 2
- MHC Class I Antigen Cw*12 4
- MHC Class I Antigen Cw*14 4
- MHC Class I Antigen Cw*15 4
- MHC Class I Antigen Cw*16 4
- MHC Class I Antigen Cw*17 4
- MHC Class I Antigen Cw*18 4
- MHC Class I Antigen Cw*1 4
- MHC Class I Antigen Cw*2 4
- MHC Class I Antigen Cw*3 4
- MHC Class I Antigen Cw*4 4
- MHC Class I Antigen Cw*5 4
- MHC Class I Antigen Cw*6 4
- MHC Class I Antigen Cw*7 4
- MHC Class I Antigen Cw*8 4
- HLA-C Alpha Chain 3
- HLA-C Antigen 3
- PSORS1 3
- HLC-C 3
- MHC 3
External Ids for HLA-C Gene
- HGNC: 4933
- Entrez Gene: 3107
- Ensembl: ENSG00000204525
- OMIM: 142840
- UniProtKB: P30499
- UniProtKB: P30501
- UniProtKB: P04222
- UniProtKB: P30504
- UniProtKB: Q9TNN7
- UniProtKB: Q29963
- UniProtKB: P10321
- UniProtKB: P30505
- UniProtKB: P30508
- UniProtKB: P30510
- UniProtKB: Q07000
- UniProtKB: Q29960
- UniProtKB: Q95604
- UniProtKB: Q29865
Previous HGNC Symbols for HLA-C Gene
- HLA-JY3
- D6S204
- PSORS1
Previous GeneCards Identifiers for HLA-C Gene
- GC06M031290
- GC06M031007
- GC06M031341
- GC06M031344
- GC06M031236
Summaries for HLA-C 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 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]
GeneCards Summary for HLA-C Gene
HLA-C (Major Histocompatibility Complex, Class I, C) is a Protein Coding gene. Diseases associated with HLA-C include Psoriasis 1 and Human Immunodeficiency Virus Type 1. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and HTLV-I infection. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and TAP binding. An important paralog of this gene is HLA-B.
UniProtKB/Swiss-Prot for HLA-C Gene
-
Involved in the presentation of foreign antigens to the immune system.
Additional gene information for HLA-C Gene
- HGNC(4933)
- Entrez Gene(3107)
- Ensembl(ENSG00000204525)
- OMIM(142840)
- UniProtKB(P30499)
- UniProtKB(P30501)
- UniProtKB(P04222)
- UniProtKB(P30504)
- UniProtKB(Q9TNN7)
- UniProtKB(Q29963)
- UniProtKB(P10321)
- UniProtKB(P30505)
- UniProtKB(P30508)
- UniProtKB(P30510)
- UniProtKB(Q07000)
- UniProtKB(Q29960)
- UniProtKB(Q95604)
- UniProtKB(Q29865)
- Monarch Initiative
- Search for HLA-C at DataMed
- Search for HLA-C at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-C Gene
Genomics for HLA-C Gene
GeneHancer (GH) Regulatory Elements for HLA-C Gene
Promoters and enhancers for HLA-C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around HLA-C on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HLA-C gene promoter:
-
- AP-1
- c-Jun
- ATF-2
- ARP-1
- AP-2gamma
- CUTL1
- USF-1
- USF1
- ATF6
- POU2F1
Regulatory Element Products
Genomic Locations for HLA-C Gene
Genomic Locations for HLA-C Gene
- chr6:31,268,749-31,272,136
- (GRCh38/hg38)
- Size:
- 3,388 bases
- Orientation:
- Minus strand
- chr6:31,236,526-31,239,907
- (GRCh37/hg19)
- Size:
- 3,382 bases
- Orientation:
- Minus strand
Genomic View for HLA-C Gene
Genes around HLA-C on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.33 by Entrez Gene
- 6p21.33 by HGNC
- 6p21.33 by Ensembl
HLA-C Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HLA-C Gene
Proteins for HLA-C Gene
-
Protein details for HLA-C Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P04222-1C03_HUMAN
- Recommended name:
- HLA class I histocompatibility antigen, Cw-3 alpha chain
- Protein Accession:
- P04222
- O62883
- O78060
- O78068
- O78069
- P30503
- Q29743
- Q29992
- Q29993
- Q9GIK8
- Q9TQB4
Protein attributes for HLA-C Gene
- Size:
- 366 amino acids
- Molecular mass:
- 40861 Da
- Quaternary structure:
-
- Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity).
Protein Expression for HLA-C Gene
Post-translational modifications for HLA-C Gene
- Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system (By similarity).
- Polyubiquitinated in a post ER compartment through interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system (By similarity).
- Glycosylation at Asn110
- Glycosylation at isoforms=110
- Ubiquitination at Lys210
- Glycosylation at isoforms=2110
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HLA-C Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HLA-C
- Invitrogen Antibodies for HLA-C (AFLGC-HLA-C)
- antibodies-online: Search results for 66 available HLAC Antibodies ranked by validation data
- Compare Top HLAC Antibodies
-
Recommended
- GeneTex HLA-C Antibody for HLA-C
-
Boster Bio Antibodies for HLA-C
-
Santa Cruz Biotechnology (SCBT) Antibodies for HLA-C
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HLA-C
- Origene Custom Protein Services for HLA-C
- ProSpec Recombinant Proteins for HLA-C
- Search GeneTex for Proteins for HLA-C
Assay Products
No data available for DME Specific Peptides for HLA-C Gene
Domains & Families for HLA-C Gene
Gene Families for HLA-C Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for HLA-C Gene
Suggested Antigen Peptide Sequences for HLA-C Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P30499- Family:
-
- Belongs to the MHC class I family.
Function for HLA-C Gene
Molecular function for HLA-C Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the presentation of foreign antigens to the immune system.
- GENATLAS Biochemistry:
- HLA-C,alpha chain,44kDa,class Ia (see MHC1)
Phenotypes From GWAS Catalog for HLA-C Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IBA | -- |
| GO:0005515 | protein binding | IPI | 18322206 |
| GO:0042605 | peptide antigen binding | ISS | -- |
Phenotypes for HLA-C Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HLA-C
-
CRISPR Products
- Browse CRISPR knockouts for HLA-C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HLA-C
- genomics-online: gRNA clones - Search results for available HLAC gene related products
- Applied Biological Materials CRISPR for HLA-C
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HLA-C
- GenScript: Design CRISPR guide RNA sequences for HLA-C
miRNA for HLA-C Gene
- miRTarBase miRNAs that target HLA-C
-
- hsa-mir-484 (MIRT041720)
- hsa-mir-423-3p (MIRT042611)
- hsa-let-7e-5p (MIRT051644)
- hsa-mir-3672 (MIRT487931)
- hsa-mir-6864-3p (MIRT487932)
- hsa-mir-4660 (MIRT487933)
- hsa-mir-767-5p (MIRT487934)
- hsa-mir-4524a-3p (MIRT487935)
- hsa-mir-152-3p (MIRT487936)
- hsa-mir-148b-3p (MIRT487937)
- hsa-mir-148a-3p (MIRT487938)
- hsa-mir-6854-5p (MIRT487939)
- hsa-mir-1249-5p (MIRT736435)
- hsa-mir-1299 (MIRT737243)
- hsa-mir-149-3p (MIRT737736)
- hsa-mir-3144-5p (MIRT740214)
- hsa-mir-3151-5p (MIRT740351)
- hsa-mir-3183 (MIRT740841)
- hsa-mir-3191-3p (MIRT740981)
- hsa-mir-3191-5p (MIRT740999)
- hsa-mir-326 (MIRT741270)
- hsa-mir-330-5p (MIRT741328)
- hsa-mir-4302 (MIRT743866)
- hsa-mir-4447 (MIRT744646)
- hsa-mir-4472 (MIRT744972)
- hsa-mir-4652-5p (MIRT746595)
- hsa-mir-4697-3p (MIRT747220)
- hsa-mir-4723-3p (MIRT747634)
- hsa-mir-4728-5p (MIRT747832)
- hsa-mir-491-5p (MIRT749210)
- hsa-mir-518c-5p (MIRT749902)
- hsa-mir-542-5p (MIRT750421)
- hsa-mir-6128 (MIRT752144)
- hsa-mir-6733-3p (MIRT754090)
- hsa-mir-6742-5p (MIRT754381)
- hsa-mir-6750-5p (MIRT754573)
- hsa-mir-6764-3p (MIRT755042)
- hsa-mir-6768-5p (MIRT755161)
- hsa-mir-6769b-3p (MIRT755217)
- hsa-mir-6777-5p (MIRT755387)
- hsa-mir-6785-5p (MIRT755827)
- hsa-mir-6796-5p (MIRT756157)
- hsa-mir-6797-5p (MIRT756195)
- hsa-mir-6800-3p (MIRT756356)
- hsa-mir-6810-5p (MIRT756653)
- hsa-mir-6817-3p (MIRT756826)
- hsa-mir-6822-5p (MIRT756905)
- hsa-mir-6824-3p (MIRT756934)
- hsa-mir-6825-5p (MIRT756983)
- hsa-mir-6883-5p (MIRT758412)
- hsa-mir-6889-5p (MIRT758636)
- hsa-mir-8089 (MIRT760271)
- hsa-mir-875-3p (MIRT760353)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HLA-C
- Browse OriGene Inhibitory RNA Products For HLA-C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-C
- genomics-online: shRNA clones - Search results for available HLAC gene related products
Clone Products
- Sino Biological Human cDNA Clone for HLA-C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HLA-C
- genomics-online: cdna clones - Search results for available HLAC gene related products
- orf clones - Search results for available HLAC gene related products
- Applied Biological Materials Clones for HLA-C
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HLA-C
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-C Gene
Localization for HLA-C Gene
Subcellular locations from UniProtKB/Swiss-Prot for HLA-C Gene
- Membrane; Single-pass type I membrane protein.
- Isoform 1: Cell membrane; Single-pass type I membrane protein.
- Isoform 2: Secreted.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| endosome | 4 |
| mitochondrion | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005783 | endoplasmic reticulum | ISS | -- |
| GO:0005794 | Golgi apparatus | ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009986 | cell surface | IDA,ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HLA-C Gene
Pathways & Interactions for HLA-C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Allograft rejection | ||
| 2 | Antigen processing-Cross presentation | ||
| 3 | Innate Immune System |
.61
|
|
| 4 | Immune response Role of DAP12 receptors in NK cells | ||
| 5 | Class I MHC mediated antigen processing and presentation | ||
Pathways by source for HLA-C Gene
2 BioSystems pathways for HLA-C Gene
15 Reactome pathways for HLA-C Gene
17 KEGG pathways for HLA-C Gene
2 GeneGo (Thomson Reuters) pathways for HLA-C Gene
2 Qiagen pathways for HLA-C Gene
Interacting Proteins for HLA-C Gene
Selected Interacting proteins:
Q9TNN7-1C05_HUMAN
P30505-1C08_HUMAN
P04222-1C03_HUMAN
P30504-1C04_HUMAN
ENSP00000365402
P10321-1C07_HUMAN
Q95604-1C17_HUMAN
Q29865-1C18_HUMAN
Q07000-1C15_HUMAN
P30508-1C12_HUMAN
P30501-1C02_HUMAN
Q29960-1C16_HUMAN
Q29963-1C06_HUMAN
P30499-1C01_HUMAN
P30510-1C14_HUMAN
for HLA-C Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for HLA-C
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002376 | immune system process | IEA | -- |
| GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | IEA,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 | IEA | -- |