Homo sapiens Gene: HLA-C
Summary
InnateDB Gene IDBG-77290.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HLA-C
Gene Name major histocompatibility complex, class I, C
Synonyms D6S204; HLA-JY3; HLC-C; PSORS1;
Species Homo sapiens
Ensembl Gene ENSG00000204525
Encoded Proteins
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
major histocompatibility complex, class I, C
Protein Structure
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:31268749-31357158
Strand Reverse strand
Band p21.33
Transcripts
ENST00000376237 ENSP00000365412
ENST00000376228 ENSP00000365402
ENST00000383329 ENSP00000372819
ENST00000415537 ENSP00000400410
ENST00000487245
ENST00000470363
ENST00000466892
ENST00000495835
ENST00000484378
ENST00000620806 ENSP00000480331
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
Experimentally validated
Total 29 [view]
Protein-Protein 29 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042605 peptide antigen binding
Biological Process
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
GO:0006955 immune response
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0019882 antigen processing and presentation
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087 innate immune response
GO:0050776 regulation of immune response
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060337 type I interferon signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0031901 early endosome membrane
GO:0042612 MHC class I protein complex
GO:0070062 extracellular vesicular exosome
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Interferon alpha/beta signaling pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC pathway
Cytokine Signaling in Immune system pathway
Endosomal/Vacuolar pathway pathway
ER-Phagosome pathway pathway
Interferon Signaling pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Antigen processing-Cross presentation pathway
Adaptive Immune System pathway
Immune System pathway
Interferon gamma signaling pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Endocytosis pathway
Phagosome pathway
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
Type I diabetes mellitus pathway
Autoimmune thyroid disease pathway
Allograft rejection pathway
Graft-versus-host disease pathway
Viral myocarditis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P10321
TrEMBL A2AEA2 B0JF23 B1PQ27 B2YG95 B5BLP2 B8Y6A8 B9WPN5 C0KJZ4 C5IZU6 C5IZU8 C5J031 C6JSX9 C6K4M5 C6K4N7 C6K4N9 C6K4P2 C7C4Z5 C7EDP3 C7FDT6 C7FDU2 C7FDU3 C8CH96 C8CHA9 C9WER2 C9WER5 C9WER9 C9WES3 C9WEU1 C9WEV1 C9WEV2 D2DKH1 D3U3P6 D3U3P8 D3U733 D3U748 D3U749 D5FZM4 D5FZR1 D5M8B1 D6C6C3 D6C6D4 D6C6D5 D6C6F9 D6MJH9 D6MJI1 D6MJJ2 D6MKV1 D6ML93 D6MLD2 D6MLE9 D7NP34 D7NQZ6 D7RJ45 D9UAZ7 E0WBV8 E0WBV9 E0X9L4 E0YTN9 E0YTP0 E1U661 E1Y7F7 E2DHB8 E2GJH5 E2GJI9 E3Q1I6 E3SGA4 E3SGA7 E3SGA8 E3SWK0 F1CCJ3 F1CCK3 F1CCL2 F2VNQ1 F2VNQ5 F2VNR5 F2VNS0 F4YU76 F4YU88 F6IQJ9 F6IQK1 F6IQK2 F6IQK3 F6IQK4 F6IQK5 F6IQK7 F6IQL2 F6IQL4 F6IQL6 F6IQL8 F6KRW3 F6KRW4 F6KRX3 F6KRX9 F6KRY0 F6KRY2 F6KRY5 F6KS07 F6KS09 F6KS10 F6KS12 F6KVT8 F8R1B3 F8R8K2 F8SKY8 F8SKZ4 F8SKZ5 F8SKZ7 F8SL01 F8SL02 F8SY67 F8W9Z8 G0WVC4 G0X8S7 G0ZMJ9 G0ZMM1 G1EMQ7 G1EMR0 G1EMR4 G1EMR6 G1EMR7 G1EMS2 G1EMS4 G1EMT2 G1EMT3 G1EMT7 G1EMT8 G1EMU5 G1EMU8 G1ENT0 G1ENT1 G1ENT3 G1ENT7 G1ENT9 G1ENV2 G1ENV3 G1ENV4 G1ENW0 G1ENW1 G1ENX1 G1ENX4 G1ENX7 G1EQ55 G1EQ80 G1EQD5 G1EQH0 G1EQI3 G1EQI7 G3D6E6 G3D6F5 G3D6F7 G3D6G8 G3D6H6 G9HW51 G9HW96 G9HWA8 G9HWA9 G9I2N2 G9I2N5 G9I2N8 G9I2P1 H2BE96 H2DMJ8 H2DMK4 H6A2G1 H6V083 H9BQ94 H9BQ96 I2GUK7 I6M569 I6M570 I6MHJ6 I6NN86 I6NS49 I6NXH6 I6NXM6 I6SJ94 I6TF01 I6TN19 I6TRX6 I6TRY5 I7A4F1 I7APJ0 J7JHR0 J7JWN4 J7K040 J9PVC3 J9PVD3 J9PVP1 K9L7E8 K9L7R5 K9L7R8 K9L7Z3 K9L8F4 M9P8K5 M9P8L0 M9P8L2 M9P8L4 M9P8L7 M9P8L8 M9P8L9 M9P8M1 M9P944 M9P955 M9P959 M9P961 M9P962 M9P965 M9P971 M9P9A7 M9P9D8 M9P9F2 M9P9F8 M9P9H2 M9P9H8 M9P9L0 M9P9L6 M9P9M9 M9P9N1 M9P9P5 M9P9R9 M9P9U4 M9P9U9 M9P9V5 M9P9W3 M9P9W6 M9PA33 M9PAC6 M9PAF2 M9PAF4 M9PAF5 M9PAF9 M9PAG2 M9PAG3 M9PAG6 M9PAK7 M9PAK8 M9XMB2 N0A4B4 O19579 O19638 Q0MT77 Q29752 Q5C9P9 Q5QR62 Q5QR69 Q5QR73 Q5QR76 Q5QR83 Q5QR84 Q5QR85 Q5QR86 Q5QR87 Q5QR88 Q6R739 Q7JGR7 Q8HWG1 Q8HWM5 Q95HC2 Q9MY32 Q9TNT2 Q9TQC2 Q9TQC5 S5DHQ4 S5DHQ8 S5DI31 S5DI32 S5DLF2 S5DLG2 S5DN70 S5DU09 U5IQN8 U5IT70 U5YC31 U5YD47 U5YF11 U5YF35 V5NQ93 V5NQV6 V5NQY7 V5NSW9 V5NWD5 V5NWG6 V5NXV7 W0NTJ5 W8FKE1 W8YSA8
UniProt Splice Variant
Entrez Gene 3107
UniGene Hs.732433
RefSeq NM_002117
HUGO HGNC:4933
OMIM 142840
CCDS CCDS34393
HPRD 00829
IMGT
EMBL AB679917 AB679918 AB774958 AF002273 AF011546 AF011549 AF017330 AH006132 AH012202 AJ001977 AJ010749 AJ278043 AJ291815 AJ293016 AJ293017 AJ507797 AJ850138 AJ850139 AJ850140 AJ850141 AJ850142 AJ850143 AJ850150 AJ850153 AJ850157 AJ850164 AL671883 AM934701 AY509618 AY603356 BC007814 D38526 D49552 D49819 DQ847464 EU484047 EU522471 FJ392188 FJ392191 FJ392195 FJ392199 FJ392217 FJ392227 FJ392228 FJ489879 FJ515904 FJ538258 FJ594512 FJ614612 FJ619429 FJ619430 FJ765755 FJ765757 FJ785731 FJ792489 FJ792504 FJ792505 FJ811898 FJ875583 FJ875623 FJ976787 FJ976789 FJ976872 FJ997956 FJ997969 FJ997970 FJ997994 FM201491 FM994937 FN430610 FR675921 FR694927 FR716510 FR870831 FR870833 FR870834 FR870835 FR870836 FR870837 FR870839 FR870844 FR870846 FR870848 FR870850 GQ121344 GQ149305 GQ149307 GQ149318 GQ161056 GQ161068 GQ161070 GQ161073 GQ180240 GQ180390 GQ180429 GQ180446 GQ240475 GQ254376 GQ266700 GQ345069 GQ345075 GQ345076 GQ401205 GQ401218 GQ900572 GQ994089 GU017939 GU017942 GU017943 GU128018 GU376471 GU551860 GU551864 GU551874 GU551879 HE806312 HG794393 HG934781 HM004248 HM068544 HM125859 HM125871 HM159351 HM159352 HM362831 HM362845 HM467551 HM543702 HM562321 HM768857 HQ011352 HQ214996 HQ215005 HQ215007 HQ215018 HQ215026 HQ230498 HQ230508 HQ230517 HQ590470 HQ590471 HQ590480 HQ590486 HQ590487 HQ590489 HQ590492 HQ590514 HQ590516 HQ590517 HQ590519 HQ641387 HQ644398 HQ644404 HQ644405 HQ644407 HQ644411 HQ644412 HQ700658 HQ879820 JF292501 JF309414 JF309436 JN119435 JN119438 JN119442 JN119444 JN119445 JN119450 JN119452 JN119460 JN119461 JN119465 JN119466 JN119473 JN119476 JN123923 JN123924 JN123926 JN123930 JN123932 JN123945 JN123946 JN123947 JN123953 JN123954 JN123964 JN123967 JN123970 JN124398 JN124423 JN124478 JN124513 JN124526 JN124530 JN159891 JN159892 JN182993 JN205234 JN205235 JN406421 JN406466 JN406478 JN406479 JN418839 JN418840 JN561749 JN561752 JN561755 JN561758 JN629058 JN629064 JN644978 JN644979 JN675291 JN786898 JQ048686 JQ048688 JQ277306 JQ277309 JQ277310 JQ277311 JQ277312 JQ824443 JQ824494 JQ824496 JQ824528 JQ824551 JQ824592 JQ824600 JQ824624 JQ824625 JQ824626 JQ824632 JQ824633 JQ824634 JQ824635 JQ824639 JQ824641 JQ824645 JQ824647 JQ824652 JQ824653 JQ824657 JQ824659 JQ824660 JQ824661 JQ824665 JQ824667 JQ824670 JQ824674 JQ824679 JQ824680 JQ824686 JQ824692 JQ824693 JQ824694 JQ824696 JQ824698 JQ867336 JQ867339 JQ867340 JQ867342 JQ867349 JQ911919 JQ911921 JQ911923 JQ911926 JQ935226 JQ964654 JQ964669 JQ997143 JQ997147 JX174627 JX198689 JX228035 KC185442 KC185443 KC503873 KC748252 KF175454 KF175457 KF175460 KF175461 KF175462 KF175463 KF175464 KF175465 KF420838 KF420866 KF420884 KF420912 KF527724 KF527781 KF527785 KF527788 KF531572 KF531596 KF531602 KF944429 KF947527 M11886 M28207 U09853 U60217 X83394 X97321 Y16418 Y18499 Y18533 Y18534 Y18535 Y18536 Z46810
GenPept AAA50217 AAA52665 AAA53259 AAB03578 AAB70296 AAC14582 AAC17722 AAD46382 AAD46385 AAH07814 AAN84536 AAR99594 AAV39503 ABH10663 ACA51861 ACC97178 ACL34372 ACL37148 ACM78934 ACN81052 ACN81054 ACN90998 ACN91013 ACN91014 ACN97197 ACO37269 ACP27910 ACP27947 ACR54361 ACR54364 ACR54368 ACR54372 ACR54390 ACR54400 ACR54401 ACS27605 ACS27607 ACS27690 ACS36192 ACS36437 ACS36449 ACS36451 ACS36454 ACT66300 ACT76245 ACU02002 ACU27288 ACU27294 ACU27295 ACU78147 ACU78148 ACV40722 ACV40735 ACX81385 ACX81388 ACX81389 ADC32180 ADC32191 ADC32192 ADC32216 ADC45456 ADC45458 ADC45469 ADC79687 ADC79855 ADC79997 ADC80036 ADC80053 ADE58709 ADE58713 ADE58723 ADE58728 ADE72959 ADE73165 ADE73245 ADE73336 ADE73388 ADE73736 ADI75496 ADM72788 ADM72789 ADN92617 ADN92631 ADU18054 ADZ05549 ADZ05559 ADZ05568 ADZ73133 ADZ73145 AEF13128 AEF13908 AEF13909 AEF13918 AEF13924 AEF13925 AEF13927 AEF13930 AEF13952 AEF13954 AEF13955 AEF13957 AEF32518 AEI01061 AEI30813 AEI30819 AEI30820 AEI30822 AEI30826 AEI30827 AEI87638 AEJ22102 AEJ22103 AEJ90521 AEK94891 AEK95016 AEK95068 AEK95090 AEK95166 AEK95169 AEK95173 AEK95175 AEK95176 AEK95181 AEK95183 AEK95191 AEK95192 AEK95196 AEK95197 AEK95204 AEK95207 AEK95333 AEK95363 AEK95417 AEK95426 AEK95428 AEK95439 AEK95447 AEK95661 AEK95662 AEK95664 AEK95668 AEK95670 AEK95683 AEK95684 AEK95685 AEK95691 AEK95692 AEK95702 AEK95705 AEK95708 AEK96136 AEK96161 AEK96216 AEK96251 AEK96264 AEK96268 AEW23042 AEW23087 AEW23099 AEW23100 AEW90696 AEW90699 AEW90702 AEW90705 AEY80113 AEY80119 AFA42434 AFA42490 AFA42491 AFA42511 AFA42686 AFA42687 AFA42772 AFA42773 AFD36913 AFD36915 AFD37009 AFD37012 AFD37013 AFD37014 AFD37015 AFM77813 AFM77816 AFM77817 AFM77819 AFM77826 AFN88165 AFN88169 AFQ55482 AFQ62749 AFQ90230 AFZ93986 AFZ94037 AFZ94039 AFZ94071 AFZ94094 AFZ94135 AFZ94143 AFZ94167 AFZ94168 AFZ94169 AFZ94175 AFZ94176 AFZ94177 AFZ94178 AFZ94182 AFZ94184 AFZ94188 AFZ94190 AFZ94195 AFZ94196 AFZ94200 AFZ94202 AFZ94203 AFZ94204 AFZ94208 AFZ94210 AFZ94213 AFZ94217 AFZ94222 AFZ94223 AFZ94229 AFZ94235 AFZ94236 AFZ94237 AFZ94239 AFZ94241 AFZ94440 AFZ94442 AFZ94444 AFZ94447 AFZ94475 AFZ94505 AFZ94520 AGG79907 AGG79908 AGK07572 AGK44327 AGQ16948 AGQ16951 AGQ16954 AGQ16955 AGQ16956 AGQ16957 AGQ16958 AGQ16959 AGZ87735 AGZ87763 AGZ87781 AGZ87809 AHA90710 AHA90767 AHA90771 AHA90774 AHA93024 AHA93048 AHA93054 AHG55094 AHK05785 BAA07531 BAA08500 BAA08625 BAM66325 BAM66326 BAN59804 CAA05125 CAA09341 CAA58313 CAA65986 CAA76206 CAA86840 CAB71315 CAB71800 CAB92313 CAC04321 CAC04322 CAC19191 CAD47827 CAH61726 CAH61727 CAH61728 CAH61729 CAH61730 CAH61731 CAH61738 CAH61741 CAH61745 CAH61752 CAP72284 CAR31393 CAX33876 CAZ86762 CBW44109 CBX25669 CBX45594 CCB84366 CCB84368 CCB84369 CCB84370 CCB84371 CCB84372 CCB84374 CCB84379 CCB84381 CCB84383 CCB84385 CCH57809 CDK41202 CDN33434
ImmGen HLA-C (murine)
RNA Seq Atlas 3107