UniProtKB - P33076 (C2TA_HUMAN)
MHC class II transactivator
CIITA
Functioni
Catalytic activityi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 420 – 427 | GTP | 8 |
GO - Molecular functioni
- activating transcription factor binding Source: BHF-UCL
- ATP binding Source: UniProtKB-KW
- GTP binding Source: UniProtKB-KW
- protein-containing complex binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
- protein serine kinase activity Source: UniProtKB-EC
- protein threonine kinase activity Source: UniProtKB-EC
- transcription coactivator activity Source: ProtInc
- transcription regulatory region sequence-specific DNA binding Source: BHF-UCL
- transferase activity, transferring acyl groups Source: UniProtKB-KW
GO - Biological processi
- immune response Source: ProtInc
- inflammatory response Source: GO_Central
- interferon-gamma-mediated signaling pathway Source: Reactome
- negative regulation of collagen biosynthetic process Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: BHF-UCL
- negative regulation of viral entry into host cell Source: UniProtKB
- positive regulation of MHC class I biosynthetic process Source: BHF-UCL
- positive regulation of MHC class II biosynthetic process Source: GO_Central
- positive regulation of transcription, DNA-templated Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- response to antibiotic Source: MGI
- response to interferon-gamma Source: UniProtKB
Keywordsi
Molecular function | Activator, Acyltransferase, Kinase, Transferase |
Biological process | Transcription, Transcription regulation |
Ligand | ATP-binding, GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P33076 |
Reactomei | R-HSA-877300, Interferon gamma signaling |
SIGNORi | P33076 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7067, CIITA |
MIMi | 600005, gene |
neXtProti | NX_P33076 |
VEuPathDBi | HostDB:ENSG00000179583.17 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- PML body Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Bare lymphocyte syndrome 2 (BLS2)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005127 | 120 | K → IE in BLS2. | 1 | |
Natural variantiVAR_015551 | 469 | L → P in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity. 1 Publication | 1 | |
Natural variantiVAR_005129 | 940 – 963 | Missing in BLS2. 1 PublicationAdd BLAST | 24 | |
Natural variantiVAR_015553 | 962 | F → S in BLS2. 1 Publication | 1 | |
Natural variantiVAR_015554 | 964 – 991 | Missing in BLS2. Add BLAST | 28 | |
Natural variantiVAR_015555 | 1027 | Missing in BLS2. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 420 – 421 | Missing : Strongly reduces GTP-binding and abolishes transactivation at MHC promoters. 1 Publication | 2 | |
Mutagenesisi | 561 | D → A: Strongly reduces GTP-binding and abolishes transactivation at MHC promoters. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, SCIDOrganism-specific databases
DisGeNETi | 4261 |
MalaCardsi | CIITA |
MIMi | 209920, phenotype |
OpenTargetsi | ENSG00000179583 |
Orphaneti | 572, Immunodeficiency by defective expression of MHC class II |
PharmGKBi | PA30795 |
Miscellaneous databases
Pharosi | P33076, Tbio |
Genetic variation databases
BioMutai | CIITA |
DMDMi | 317373472 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089241 | 1 – 1130 | MHC class II transactivatorAdd BLAST | 1130 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P33076 |
MassIVEi | P33076 |
MaxQBi | P33076 |
PaxDbi | P33076 |
PeptideAtlasi | P33076 |
PRIDEi | P33076 |
ProteomicsDBi | 20081 54897 [P33076-1] |
PTM databases
iPTMneti | P33076 |
PhosphoSitePlusi | P33076 |
Expressioni
Gene expression databases
Bgeei | ENSG00000179583, Expressed in spleen and 163 other tissues |
ExpressionAtlasi | P33076, baseline and differential |
Organism-specific databases
HPAi | ENSG00000179583, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Interacts with ZXDA and ZXDC.
Interacts with PML (isoform PML-2).
3 PublicationsBinary interactionsi
Hide detailsP33076
With | #Exp. | IntAct |
---|---|---|
SIRT1 [Q96EB6] | 4 | EBI-1538819,EBI-1802965 |
ZXDA [P98168] | 4 | EBI-1538819,EBI-1538980 |
ZXDC [Q2QGD7] | 6 | EBI-1538819,EBI-1538838 |
GO - Molecular functioni
- activating transcription factor binding Source: BHF-UCL
- protein C-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110416, 29 interactors |
ELMi | P33076 |
IntActi | P33076, 3 interactors |
STRINGi | 9606.ENSP00000485010 |
Miscellaneous databases
RNActi | P33076, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 414 – 724 | NACHTPROSITE-ProRule annotationAdd BLAST | 311 | |
Repeati | 985 – 1008 | LRR 1Add BLAST | 24 | |
Repeati | 1016 – 1037 | LRR 2Add BLAST | 22 | |
Repeati | 1045 – 1066 | LRR 3Add BLAST | 22 | |
Repeati | 1073 – 1093 | LRR 4Add BLAST | 21 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 94 – 132 | Required for acetyltransferase activityAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 52 – 137 | Asp/Glu-rich (acidic)Add BLAST | 86 |
Domaini
Keywords - Domaini
Leucine-rich repeat, RepeatPhylogenomic databases
eggNOGi | KOG4308, Eukaryota |
GeneTreei | ENSGT00940000161578 |
HOGENOMi | CLU_498699_0_0_1 |
InParanoidi | P33076 |
OrthoDBi | 28098at2759 |
PhylomeDBi | P33076 |
TreeFami | TF352118 |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf IPR008095, MHC_II_transact IPR007111, NACHT_NTPase IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF13516, LRR_6, 3 hits PF05729, NACHT, 1 hit |
PRINTSi | PR01719, MHCIIACTVATR |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51450, LRR, 4 hits PS50837, NACHT, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRCLAPRPAG SYLSEPQGSS QCATMELGPL EGGYLELLNS DADPLCLYHF
60 70 80 90 100
YDQMDLAGEE EIELYSEPDT DTINCDQFSR LLCDMEGDEE TREAYANIAE
110 120 130 140 150
LDQYVFQDSQ LEGLSKDIFK HIGPDEVIGE SMEMPAEVGQ KSQKRPFPEE
160 170 180 190 200
LPADLKHWKP AEPPTVVTGS LLVRPVSDCS TLPCLPLPAL FNQEPASGQM
210 220 230 240 250
RLEKTDQIPM PFSSSSLSCL NLPEGPIQFV PTISTLPHGL WQISEAGTGV
260 270 280 290 300
SSIFIYHGEV PQASQVPPPS GFTVHGLPTS PDRPGSTSPF APSATDLPSM
310 320 330 340 350
PEPALTSRAN MTEHKTSPTQ CPAAGEVSNK LPKWPEPVEQ FYRSLQDTYG
360 370 380 390 400
AEPAGPDGIL VEVDLVQARL ERSSSKSLER ELATPDWAER QLAQGGLAEV
410 420 430 440 450
LLAAKEHRRP RETRVIAVLG KAGQGKSYWA GAVSRAWACG RLPQYDFVFS
460 470 480 490 500
VPCHCLNRPG DAYGLQDLLF SLGPQPLVAA DEVFSHILKR PDRVLLILDG
510 520 530 540 550
FEELEAQDGF LHSTCGPAPA EPCSLRGLLA GLFQKKLLRG CTLLLTARPR
560 570 580 590 600
GRLVQSLSKA DALFELSGFS MEQAQAYVMR YFESSGMTEH QDRALTLLRD
610 620 630 640 650
RPLLLSHSHS PTLCRAVCQL SEALLELGED AKLPSTLTGL YVGLLGRAAL
660 670 680 690 700
DSPPGALAEL AKLAWELGRR HQSTLQEDQF PSADVRTWAM AKGLVQHPPR
710 720 730 740 750
AAESELAFPS FLLQCFLGAL WLALSGEIKD KELPQYLALT PRKKRPYDNW
760 770 780 790 800
LEGVPRFLAG LIFQPPARCL GALLGPSAAA SVDRKQKVLA RYLKRLQPGT
810 820 830 840 850
LRARQLLELL HCAHEAEEAG IWQHVVQELP GRLSFLGTRL TPPDAHVLGK
860 870 880 890 900
ALEAAGQDFS LDLRSTGICP SGLGSLVGLS CVTRFRAALS DTVALWESLQ
910 920 930 940 950
QHGETKLLQA AEEKFTIEPF KAKSLKDVED LGKLVQTQRT RSSSEDTAGE
960 970 980 990 1000
LPAVRDLKKL EFALGPVSGP QAFPKLVRIL TAFSSLQHLD LDALSENKIG
1010 1020 1030 1040 1050
DEGVSQLSAT FPQLKSLETL NLSQNNITDL GAYKLAEALP SLAASLLRLS
1060 1070 1080 1090 1100
LYNNCICDVG AESLARVLPD MVSLRVMDVQ YNKFTAAGAQ QLAASLRRCP
1110 1120 1130
HVETLAMWTP TIPFSVQEHL QQQDSRISLR
The sequence of this isoform differs from the canonical sequence as follows:
161-210: AEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPM → V
336-350: EPVEQFYRSLQDTYG → GLAWSPCLGLRPSLH
351-885: Missing.
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X2I7 | A0A087X2I7_HUMAN | MHC class II transactivator | CIITA | 1,131 | Annotation score: | ||
A0A0B4J1S1 | A0A0B4J1S1_HUMAN | MHC class II transactivator | CIITA | 1,130 | Annotation score: | ||
Q29704 | Q29704_HUMAN | Class II MHC mutant RJ2.2.5 | CIITA | 353 | Annotation score: | ||
A0A1B0GUQ8 | A0A1B0GUQ8_HUMAN | MHC class II transactivator | CIITA | 139 | Annotation score: | ||
I3L2E5 | I3L2E5_HUMAN | MHC class II transactivator | CIITA | 177 | Annotation score: | ||
I3L2P7 | I3L2P7_HUMAN | MHC class II transactivator | CIITA | 172 | Annotation score: | ||
A0A1B0GU01 | A0A1B0GU01_HUMAN | MHC class II transactivator | CIITA | 260 | Annotation score: | ||
A0A2R8Y7F5 | A0A2R8Y7F5_HUMAN | MHC class II transactivator | CIITA | 81 | Annotation score: | ||
A0A2R8YFU9 | A0A2R8YFU9_HUMAN | MHC class II transactivator | CIITA | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1020 – 1021 | LN → RS in ABK41930 (PubMed:12859996).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029270 | 45 | L → V. Corresponds to variant dbSNP:rs2229317EnsemblClinVar. | 1 | |
Natural variantiVAR_005127 | 120 | K → IE in BLS2. | 1 | |
Natural variantiVAR_047907 | 174 | R → G4 PublicationsCorresponds to variant dbSNP:rs8046121Ensembl. | 1 | |
Natural variantiVAR_015551 | 469 | L → P in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity. 1 Publication | 1 | |
Natural variantiVAR_005128 | 500 | G → A3 PublicationsCorresponds to variant dbSNP:rs4774EnsemblClinVar. | 1 | |
Natural variantiVAR_015552 | 658 | A → G. Corresponds to variant dbSNP:rs2229319EnsemblClinVar. | 1 | |
Natural variantiVAR_060104 | 781 | S → L. Corresponds to variant dbSNP:rs13330686EnsemblClinVar. | 1 | |
Natural variantiVAR_057711 | 782 | V → A. Corresponds to variant dbSNP:rs13336804EnsemblClinVar. | 1 | |
Natural variantiVAR_047908 | 900 | Q → R4 PublicationsCorresponds to variant dbSNP:rs7197779EnsemblClinVar. | 1 | |
Natural variantiVAR_005129 | 940 – 963 | Missing in BLS2. 1 PublicationAdd BLAST | 24 | |
Natural variantiVAR_015553 | 962 | F → S in BLS2. 1 Publication | 1 | |
Natural variantiVAR_015554 | 964 – 991 | Missing in BLS2. Add BLAST | 28 | |
Natural variantiVAR_015555 | 1027 | Missing in BLS2. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055099 | 161 – 210 | AEPPT…DQIPM → V in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 50 | |
Alternative sequenceiVSP_055100 | 336 – 350 | EPVEQ…QDTYG → GLAWSPCLGLRPSLH in isoform 3. 1 PublicationAdd BLAST | 15 | |
Alternative sequenceiVSP_055101 | 351 – 885 | Missing in isoform 3. 1 PublicationAdd BLAST | 535 | |
Alternative sequenceiVSP_055102 | 887 – 930 | AALSD…KDVED → WGEGLGRDILVLGINCGLGA KPSALWGPFSMQSSRVGQNG FSPF in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 44 | |
Alternative sequenceiVSP_055103 | 931 – 1128 | Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 198 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X74301 mRNA Translation: CAA52354.1 U18259 mRNA Translation: AAA88861.1 U18288 mRNA Translation: AAA88862.1 AY084054 mRNA Translation: AAM15723.1 AF410154 mRNA Translation: AAL04118.1 EF064747 Genomic DNA Translation: ABK41930.1 AC133065 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85169.1 CH471112 Genomic DNA Translation: EAW85172.1 CH471112 Genomic DNA Translation: EAW85173.1 |
CCDSi | CCDS10544.1 [P33076-1] CCDS66943.1 [P33076-3] |
PIRi | A48843 |
RefSeqi | NP_000237.2, NM_000246.3 NP_001273332.1, NM_001286403.1 [P33076-3] |
Genome annotation databases
Ensembli | ENST00000381835; ENSP00000371257; ENSG00000179583 [P33076-3] |
GeneIDi | 4261 |
KEGGi | hsa:4261 |
UCSCi | uc002dak.5, human [P33076-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
CIITAbase CIITA mutation db |
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X74301 mRNA Translation: CAA52354.1 U18259 mRNA Translation: AAA88861.1 U18288 mRNA Translation: AAA88862.1 AY084054 mRNA Translation: AAM15723.1 AF410154 mRNA Translation: AAL04118.1 EF064747 Genomic DNA Translation: ABK41930.1 AC133065 Genomic DNA No translation available. CH471112 Genomic DNA Translation: EAW85169.1 CH471112 Genomic DNA Translation: EAW85172.1 CH471112 Genomic DNA Translation: EAW85173.1 |
CCDSi | CCDS10544.1 [P33076-1] CCDS66943.1 [P33076-3] |
PIRi | A48843 |
RefSeqi | NP_000237.2, NM_000246.3 NP_001273332.1, NM_001286403.1 [P33076-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 110416, 29 interactors |
ELMi | P33076 |
IntActi | P33076, 3 interactors |
STRINGi | 9606.ENSP00000485010 |
PTM databases
iPTMneti | P33076 |
PhosphoSitePlusi | P33076 |
Genetic variation databases
BioMutai | CIITA |
DMDMi | 317373472 |
Proteomic databases
jPOSTi | P33076 |
MassIVEi | P33076 |
MaxQBi | P33076 |
PaxDbi | P33076 |
PeptideAtlasi | P33076 |
PRIDEi | P33076 |
ProteomicsDBi | 20081 54897 [P33076-1] |
Protocols and materials databases
Antibodypediai | 4234, 188 antibodies |
DNASUi | 4261 |
Genome annotation databases
Ensembli | ENST00000381835; ENSP00000371257; ENSG00000179583 [P33076-3] |
GeneIDi | 4261 |
KEGGi | hsa:4261 |
UCSCi | uc002dak.5, human [P33076-1] |
Organism-specific databases
CTDi | 4261 |
DisGeNETi | 4261 |
GeneCardsi | CIITA |
HGNCi | HGNC:7067, CIITA |
HPAi | ENSG00000179583, Tissue enhanced (lymphoid) |
MalaCardsi | CIITA |
MIMi | 209920, phenotype 600005, gene |
neXtProti | NX_P33076 |
OpenTargetsi | ENSG00000179583 |
Orphaneti | 572, Immunodeficiency by defective expression of MHC class II |
PharmGKBi | PA30795 |
VEuPathDBi | HostDB:ENSG00000179583.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4308, Eukaryota |
GeneTreei | ENSGT00940000161578 |
HOGENOMi | CLU_498699_0_0_1 |
InParanoidi | P33076 |
OrthoDBi | 28098at2759 |
PhylomeDBi | P33076 |
TreeFami | TF352118 |
Enzyme and pathway databases
PathwayCommonsi | P33076 |
Reactomei | R-HSA-877300, Interferon gamma signaling |
SIGNORi | P33076 |
Miscellaneous databases
BioGRID-ORCSi | 4261, 4 hits in 985 CRISPR screens |
ChiTaRSi | CIITA, human |
GeneWikii | CIITA |
GenomeRNAii | 4261 |
Pharosi | P33076, Tbio |
PROi | PR:P33076 |
RNActi | P33076, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000179583, Expressed in spleen and 163 other tissues |
ExpressionAtlasi | P33076, baseline and differential |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf IPR008095, MHC_II_transact IPR007111, NACHT_NTPase IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF13516, LRR_6, 3 hits PF05729, NACHT, 1 hit |
PRINTSi | PR01719, MHCIIACTVATR |
SUPFAMi | SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS51450, LRR, 4 hits PS50837, NACHT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C2TA_HUMAN | |
Accessioni | P33076Primary (citable) accession number: P33076 Secondary accession number(s): A0N0N9 Q96KL4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | January 11, 2011 | |
Last modified: | April 7, 2021 | |
This is version 198 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot