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UniProtKB - P33076 (C2TA_HUMAN)

Entry version 190 (11 Dec 2019)
Sequence version 3 (11 Jan 2011)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function_section">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

More...Reactomei		R-HSA-877300 Interferon gamma signaling

SIGNOR Signaling Network Open Resource

More...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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...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 & Seán O’Donoghue; 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.
Related information in OMIM
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

More...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

More...Orphaneti		572 Immunodeficiency by defective expression of MHC class II

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30795

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P33076 Tbio

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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P33076

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P33076

MaxQB - The MaxQuant DataBase

More...MaxQBi		P33076

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

More...PaxDbi		P33076

PeptideAtlas

More...PeptideAtlasi		P33076

PRoteomics IDEntifications database

More...PRIDEi		P33076

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20081
54897 [P33076-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P33076

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

More...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

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

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P33076 baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB016084
HPA054757

<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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110416, 28 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P33076

Protein interaction database and analysis system

More...IntActi		P33076, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000485010

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P33076 protein

<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

More...eggNOGi		KOG4308 Eukaryota
ENOG410ZBX3 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161578

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000107439

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P33076

KEGG Orthology (KO)

More...KOi		K08060

Database of Orthologous Groups

More...OrthoDBi		1454876at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P33076

TreeFam database of animal gene trees

More...TreeFami		TF352118

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR008095 MHC_II_transact
IPR007111 NACHT_NTPase
IPR041267 NLRC_HD2
IPR027417 P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13516 LRR_6, 3 hits
PF05729 NACHT, 1 hit
PF17776 NLRC4_HD2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01719 MHCIIACTVATR

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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:3 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: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>
Q29704Q29704_HUMAN
Class II MHC mutant RJ2.2.5
CIITA
353Annotation 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>
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>
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>
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>
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>
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.<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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4261

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4261

UCSC genome browser

More...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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi110416, 28 interactors
ELMiP33076
IntActiP33076, 3 interactors
STRINGi9606.ENSP00000485010

PTM databases

iPTMnetiP33076
PhosphoSitePlusiP33076

Polymorphism and mutation databases

BioMutaiCIITA
DMDMi317373472

Proteomic databases

jPOSTiP33076
MassIVEiP33076
MaxQBiP33076
PaxDbiP33076
PeptideAtlasiP33076
PRIDEiP33076
ProteomicsDBi20081
54897 [P33076-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4261

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
HPA054757
MalaCardsiCIITA
MIMi209920 phenotype
600005 gene
neXtProtiNX_P33076
OpenTargetsiENSG00000179583
Orphaneti572 Immunodeficiency by defective expression of MHC class II
PharmGKBiPA30795

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4308 Eukaryota
ENOG410ZBX3 LUCA
GeneTreeiENSGT00940000161578
HOGENOMiHOG000107439
InParanoidiP33076
KOiK08060
OrthoDBi1454876at2759
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
PharosiP33076 Tbio

Protein Ontology

More...PROi		PR:P33076
RNActiP33076 protein

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
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
IPR041267 NLRC_HD2
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF13516 LRR_6, 3 hits
PF05729 NACHT, 1 hit
PF17776 NLRC4_HD2, 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 11, 2019
This is version 190 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

Reference proteome

Documents

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