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Protein

MHC class II transactivator

Gene

CIITA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi420 – 427GTP8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • activating transcription factor binding Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • GTP binding Source: UniProtKB-KW
  • kinase activity Source: UniProtKB-KW
  • protein-containing complex binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • transcription coactivator activity Source: ProtInc
  • transcription regulatory region DNA binding Source: BHF-UCL
  • transferase activity, transferring acyl groups Source: UniProtKB-KW

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Acyltransferase, Kinase, Transferase
Biological processTranscription, Transcription regulation
LigandATP-binding, GTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-877300 Interferon gamma signaling

SIGNOR Signaling Network Open Resource

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SIGNORi
P33076

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
MHC class II transactivator (EC:2.3.1.-, EC:2.7.11.1)
Short name:
CIITA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CIITA
Synonyms:MHC2TA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000179583.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7067 CIITA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600005 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P33076

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bare lymphocyte syndrome 2 (BLS2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
See also OMIM:209920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_005127120K → IE in BLS2. 1
Natural variantiVAR_015551469L → P in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity. 1 Publication1
Natural variantiVAR_005129940 – 963Missing in BLS2. 1 PublicationAdd BLAST24
Natural variantiVAR_015553962F → S in BLS2. 1 Publication1
Natural variantiVAR_015554964 – 991Missing in BLS2. Add BLAST28
Natural variantiVAR_0155551027Missing in BLS2. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi420 – 421Missing : Strongly reduces GTP-binding and abolishes transactivation at MHC promoters. 1 Publication2
Mutagenesisi561D → A: Strongly reduces GTP-binding and abolishes transactivation at MHC promoters. 1 Publication1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

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DisGeNETi
4261

MalaCards human disease database

More...
MalaCardsi
CIITA
MIMi209920 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000179583

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
572 Immunodeficiency by defective expression of HLA class 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30795

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CIITA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373472

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000892411 – 1130MHC class II transactivatorAdd BLAST1130

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autophosphorylated, affecting interaction with TAF7.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

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MaxQBi
P33076

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P33076

PeptideAtlas

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PeptideAtlasi
P33076

PRoteomics IDEntifications database

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PRIDEi
P33076

ProteomicsDB human proteome resource

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ProteomicsDBi
54897

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P33076

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P33076

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000179583 Expressed in 146 organ(s), highest expression level in tendon

CleanEx database of gene expression profiles

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CleanExi
HS_CIITA

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P33076 baseline and differential

Organism-specific databases

Human Protein Atlas

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HPAi
CAB016084

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ZXDA and ZXDC. Interacts with PML (isoform PML-2).3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110416, 28 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P33076

Protein interaction database and analysis system

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IntActi
P33076, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000316328

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P33076

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini414 – 724NACHTPROSITE-ProRule annotationAdd BLAST311
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati985 – 1008LRR 1Add BLAST24
Repeati1016 – 1037LRR 2Add BLAST22
Repeati1045 – 1066LRR 3Add BLAST22
Repeati1073 – 1093LRR 4Add BLAST21

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni94 – 132Required for acetyltransferase activityAdd BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi52 – 137Asp/Glu-rich (acidic)Add BLAST86

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The acetyltransferase domain is necessary for activation of both class I and class II transcription.
The GTP-binding motif doesn't confer GTPase activity but promotes nuclear localization.

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4308 Eukaryota
ENOG410ZBX3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161578

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000107439

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000174

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P33076

KEGG Orthology (KO)

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KOi
K08060

Database for complete collections of gene phylogenies

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PhylomeDBi
P33076

TreeFam database of animal gene trees

More...
TreeFami
TF352118

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR008095 MHC_II_transact
IPR007111 NACHT_NTPase
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13516 LRR_6, 3 hits
PF05729 NACHT, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01719 MHCIIACTVATR

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51450 LRR, 4 hits
PS50837 NACHT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P33076-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,130
Mass (Da):123,514
Last modified:January 11, 2011 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7A61CAA4F3FFECE0
GO
Isoform 2 (identifier: P33076-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-210: AEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPM → V
     887-930: AALSDTVALW...KAKSLKDVED → WGEGLGRDIL...RVGQNGFSPF
     931-1128: Missing.

Show »
Length:883
Mass (Da):96,429
Checksum:iC2D59921C3D5F6C5
GO
Isoform 3 (identifier: P33076-3) [UniParc]FASTAAdd to basket
Also known as: hCIITA'

The sequence of this isoform differs from the canonical sequence as follows:
     161-210: AEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPM → V
     336-350: EPVEQFYRSLQDTYG → GLAWSPCLGLRPSLH
     351-885: Missing.

Note: Exhibits dominant-negative suppression of MHC class II gene expression.
Show »
Length:546
Mass (Da):59,641
Checksum:i95471F528074C11A
GO
Isoform 4 (identifier: P33076-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     887-930: AALSDTVALW...KAKSLKDVED → WGEGLGRDIL...RVGQNGFSPF
     931-1128: Missing.

Show »
Length:932
Mass (Da):101,661
Checksum:i1C9D9F9BF43DD142
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X2I7A0A087X2I7_HUMAN
MHC class II transactivator
CIITA
1,131Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J1S1A0A0B4J1S1_HUMAN
MHC class II transactivator
CIITA
1,130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q29704Q29704_HUMAN
Class II MHC mutant RJ2.2.5
CIITA
353Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2P7I3L2P7_HUMAN
MHC class II transactivator
CIITA
172Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2E5I3L2E5_HUMAN
MHC class II transactivator
CIITA
177Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU01A0A1B0GU01_HUMAN
MHC class II transactivator
CIITA
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUQ8A0A1B0GUQ8_HUMAN
MHC class II transactivator
CIITA
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7F5A0A2R8Y7F5_HUMAN
MHC class II transactivator
CIITA
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFU9A0A2R8YFU9_HUMAN
MHC class II transactivator
CIITA
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1020 – 1021LN → RS in ABK41930 (PubMed:12859996).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02927045L → V. Corresponds to variant dbSNP:rs2229317EnsemblClinVar.1
Natural variantiVAR_005127120K → IE in BLS2. 1
Natural variantiVAR_047907174R → G4 PublicationsCorresponds to variant dbSNP:rs8046121Ensembl.1
Natural variantiVAR_015551469L → P in BLS2; mild immunodeficiency; has residual MHC class II trans activation activity. 1 Publication1
Natural variantiVAR_005128500G → A3 PublicationsCorresponds to variant dbSNP:rs4774EnsemblClinVar.1
Natural variantiVAR_015552658A → G. Corresponds to variant dbSNP:rs2229319EnsemblClinVar.1
Natural variantiVAR_060104781S → L. Corresponds to variant dbSNP:rs13330686EnsemblClinVar.1
Natural variantiVAR_057711782V → A. Corresponds to variant dbSNP:rs13336804EnsemblClinVar.1
Natural variantiVAR_047908900Q → R4 PublicationsCorresponds to variant dbSNP:rs7197779EnsemblClinVar.1
Natural variantiVAR_005129940 – 963Missing in BLS2. 1 PublicationAdd BLAST24
Natural variantiVAR_015553962F → S in BLS2. 1 Publication1
Natural variantiVAR_015554964 – 991Missing in BLS2. Add BLAST28
Natural variantiVAR_0155551027Missing in BLS2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055099161 – 210AEPPT…DQIPM → V in isoform 2 and isoform 3. 2 PublicationsAdd BLAST50
Alternative sequenceiVSP_055100336 – 350EPVEQ…QDTYG → GLAWSPCLGLRPSLH in isoform 3. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_055101351 – 885Missing in isoform 3. 1 PublicationAdd BLAST535
Alternative sequenceiVSP_055102887 – 930AALSD…KDVED → WGEGLGRDILVLGINCGLGA KPSALWGPFSMQSSRVGQNG FSPF in isoform 2 and isoform 4. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_055103931 – 1128Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST198

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10544.1 [P33076-1]
CCDS66943.1 [P33076-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A48843

NCBI Reference Sequences

More...
RefSeqi
NP_000237.2, NM_000246.3
NP_001273332.1, NM_001286403.1 [P33076-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.592051
Hs.701991

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000381835; ENSP00000371257; ENSG00000179583 [P33076-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4261

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4261

UCSC genome browser

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UCSCi
uc002dak.5 human [P33076-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS10544.1 [P33076-1]
CCDS66943.1 [P33076-3]
PIRiA48843
RefSeqiNP_000237.2, NM_000246.3
NP_001273332.1, NM_001286403.1 [P33076-3]
UniGeneiHs.592051
Hs.701991

3D structure databases

ProteinModelPortaliP33076
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110416, 28 interactors
ELMiP33076
IntActiP33076, 3 interactors
STRINGi9606.ENSP00000316328

PTM databases

iPTMnetiP33076
PhosphoSitePlusiP33076

Polymorphism and mutation databases

BioMutaiCIITA
DMDMi317373472

Proteomic databases

MaxQBiP33076
PaxDbiP33076
PeptideAtlasiP33076
PRIDEiP33076
ProteomicsDBi54897

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4261
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381835; ENSP00000371257; ENSG00000179583 [P33076-3]
GeneIDi4261
KEGGihsa:4261
UCSCiuc002dak.5 human [P33076-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4261
DisGeNETi4261
EuPathDBiHostDB:ENSG00000179583.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CIITA
HGNCiHGNC:7067 CIITA
HPAiCAB016084
MalaCardsiCIITA
MIMi209920 phenotype
600005 gene
neXtProtiNX_P33076
OpenTargetsiENSG00000179583
Orphaneti572 Immunodeficiency by defective expression of HLA class 2
PharmGKBiPA30795

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4308 Eukaryota
ENOG410ZBX3 LUCA
GeneTreeiENSGT00940000161578
HOGENOMiHOG000107439
HOVERGENiHBG000174
InParanoidiP33076
KOiK08060
PhylomeDBiP33076
TreeFamiTF352118

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling
SIGNORiP33076

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CIITA human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CIITA

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4261

Protein Ontology

More...
PROi
PR:P33076

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000179583 Expressed in 146 organ(s), highest expression level in tendon
CleanExiHS_CIITA
ExpressionAtlasiP33076 baseline and differential

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR008095 MHC_II_transact
IPR007111 NACHT_NTPase
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF13516 LRR_6, 3 hits
PF05729 NACHT, 1 hit
PRINTSiPR01719 MHCIIACTVATR
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 4 hits
PS50837 NACHT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiC2TA_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P33076
Secondary accession number(s): A0N0N9
, D3DUG0, E9PFE0, Q29675, Q8SNB8, Q96KL4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: January 11, 2011
Last modified: December 5, 2018
This is version 182 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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