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Entry version 125 (16 Oct 2019)
Sequence version 3 (05 Oct 2010)
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Protein

KICSTOR complex protein SZT2

Gene

SZT2

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

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity).By similarity2 Publications

<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 - Biological processi

<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:
KICSTOR complex protein SZT2Curated
Alternative name(s):
Seizure threshold 2 protein homologImported
<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:SZT2Imported
Synonyms:C1orf84Imported, KIAA0467Imported
<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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29040 SZT2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615463 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5T011

<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

<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>Keywords - Cellular componenti

Lysosome, Membrane, Peroxisome

<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

Epileptic encephalopathy, early infantile, 18 (EIEE18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging.
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_07857325 – 3432Missing in EIEE18. 1 PublicationAdd BLAST3408
Natural variantiVAR_078574499S → I in EIEE18; alters splice sites and probably alternative splicing. 1 PublicationCorresponds to variant dbSNP:rs886041034EnsemblClinVar.1
Natural variantiVAR_078575698 – 3432Missing in EIEE18. 1 PublicationAdd BLAST2735

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
23334

MalaCards human disease database

More...
MalaCardsi
SZT2
MIMi615476 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198198

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

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Orphaneti
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671628

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q5T011

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SZT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153547

<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_00002758981 – 3432KICSTOR complex protein SZT2Add BLAST3432

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1276PhosphoserineCombined sources1
Modified residuei1416PhosphoserineCombined sources1
Modified residuei1641PhosphothreonineCombined sources1
Modified residuei1651PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5T011

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5T011

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q5T011

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5T011

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

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PaxDbi
Q5T011

PeptideAtlas

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PeptideAtlasi
Q5T011

PRoteomics IDEntifications database

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PRIDEi
Q5T011

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
64109 [Q5T011-1]
64110 [Q5T011-4]
64111 [Q5T011-5]
64112 [Q5T011-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5T011

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

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PhosphoSitePlusi
Q5T011

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the brain, predominantly in the parietal and frontal cortex, as well as in dorsal root ganglia. Expressed in peripheral white blood cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198198 Expressed in 188 organ(s), highest expression level in left lobe of thyroid gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5T011 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5T011 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029012

<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

Part of the KICSTOR complex composed of KPTN, ITFG2, C12orf66 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and mediates the direct interaction with the GATOR1 complex.

2 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116921, 26 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q5T011

Protein interaction database and analysis system

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IntActi
Q5T011, 23 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000457168

<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

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>Regioni1083 – 1189Mediates interaction with the GATOR1 complex1 PublicationAdd BLAST107

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IE3I Eukaryota
ENOG410XTCX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018402

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5T011

KEGG Orthology (KO)

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KOi
K23298

Identification of Orthologs from Complete Genome Data

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OMAi
RCPVYVY

Database of Orthologous Groups

More...
OrthoDBi
347778at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5T011

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR033228 SZT2

The PANTHER Classification System

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PANTHERi
PTHR14918 PTHR14918, 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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T011-1) [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
MASERPEPEV EEAGQVFLLM KKDYRISRNV RLAWFLSHLH QTVQATPQEM
60 70 80 90 100
LLQSEQELEV LSVLPPGWQP DEPVVPRPFL LVPSTRVTFL AWQYRFVIEL
110 120 130 140 150
DLSPSTGIVD DSTGEILFDE VFHALSRCLG GLLRPFRVPG SCIDFQPEIY
160 170 180 190 200
VTIQAYSSII GLQSHQVLVQ GCLLDPSQRE VFLQQIYEQL CLFEDKVATM
210 220 230 240 250
LQQQYDPQSQ AEDQSPDSGD LLGRKVGVSM VTADLGLVSM IRQGILALQL
260 270 280 290 300
LPSNSSAGII VITDGVTSVP DVAVCETLLN QLRSGTVACS FVQVGGVYSY
310 320 330 340 350
DCSFGHVPNV ELMKFIAMAT FGSYLSTCPE PEPGNLGLTV YHRAFLLYSF
360 370 380 390 400
LRSGEALNPE YYCGSQHRLF NEHLVSASSN PALALRRKKH TEKEVPADLV
410 420 430 440 450
STVSVRLREG YSVREVTLAK GGSQLEVKLV LLWKHNMRIE YVAMAPWPLE
460 470 480 490 500
PEGPRVTRVE VTMEGGYDIL HDVSCALRQP IRSLYRTHVI RRFWNTLQSI
510 520 530 540 550
NQTDQMLAHL QSFSSVPEHF TLPDSTKSGV PLFYIPPGST TPVLSLQPSG
560 570 580 590 600
SDSSHAQFAA YWKPVLSMDA NSWQRWLHMH RLVLILEHDT PIPKHLHTPG
610 620 630 640 650
SNGRYSTIQC RISHSSLTSL LRDWSSFVLV EGYSYVKLLS SAPDQPPNSF
660 670 680 690 700
YMVRIISKAP CMVLRLGFPI GTPAPARHKI VSGLREEILR LRFPHRVQSK
710 720 730 740 750
EPTPKVKRKG LGGAGGGSSP SKSPPVLGPQ QALSDRPCLV VLHKPLDKLL
760 770 780 790 800
IRYEKLPLDY RAPFLLTLEP PGPLPLVSGR SASSSLASLS RYLYHQRWLW
810 820 830 840 850
SVPSGLAPAL PLSAIAQLLS ILTEVRLSEG FHFACSGEGI INMVLELPIQ
860 870 880 890 900
NEPPGQAAAE EKHTCVVQYI LFPPHSTSTK DSFSTDDDND VEVEALEGDS
910 920 930 940 950
ELNLVTEVWV EPQYGRVGPG PGIWKHLQDL TYSEIPQALH PRDAACIGSM
960 970 980 990 1000
LSFEYLIQLC QSKEWGPLPP EPRVSDGLDQ GGDTCVHEIP FHFDLMGLLP
1010 1020 1030 1040 1050
QCQQLQMFFL LLAREPEGVP FAEGSCPAND MVLCLLHSCL GQELSDREIP
1060 1070 1080 1090 1100
LTPVDQAAFL SEVLRRTCHV PGAEGPLLGV HGIPKEQAVG STQATGDSAF
1110 1120 1130 1140 1150
TSLSVGLPET LKPLISAQPP QWRCYARLVN PQHVFLTFLP ATFSDVQRLA
1160 1170 1180 1190 1200
ACGLEGPPQE ETKPKFGDWS GAPSLKDLGG TGIKATKSHV PVLSVTLASD
1210 1220 1230 1240 1250
NAQNQGELSP PFRRDLQAYA GRQASQTESA DGPRTRCPVY IYSCSLEALR
1260 1270 1280 1290 1300
EQMVGMQPPQ APRDLIFRTQ FLDHPSPSSA WMEPRYKEAA NHCALLQEHA
1310 1320 1330 1340 1350
QRCYVRGLFR SLQQAQSVTS QDLLTAVDAC EELLQEIDIT PFLLALCGHT
1360 1370 1380 1390 1400
WGLPHAPPSP GPLSPGPFSS SMEEGAEPRE RAILASESSI ETEDLSEPEF
1410 1420 1430 1440 1450
QSTRVPGIPD PGPEISLTDV CQLRGEAHGA LHSVIQEKFL EISRLHFRTV
1460 1470 1480 1490 1500
PSNPHYFFYC PPSSRREDEG PRDTVDRKIS DLEFSEAELM GEEGDTSACC
1510 1520 1530 1540 1550
VVTESDPELE VEYRESRESD LGPAGLDSAS LSDVDTVNPD EDSFSILGGD
1560 1570 1580 1590 1600
SPTGPESFLH DLPPLFLHLT CSVRLRGQHS SVPVCSLPTC LGQVLSSLEG
1610 1620 1630 1640 1650
PPVGGRVPLR DLSVTLDVFM LTLPLEVELP TASDPQHHRS TSESSASFPR
1660 1670 1680 1690 1700
SPGQPSSLRS DDGLGPPLPP PEEERHPGLS NLATPHRLAI ETTMNEIRWL
1710 1720 1730 1740 1750
LEDEMVGALR RGGIPQSPAL HRAAAHIHSS PGRSTCLRQT LPLSFVFGPE
1760 1770 1780 1790 1800
RSLTQFKEEF RRLHLPGHVL LEDPDSGFFF VAAGQQPGGS HGEPSSAAWA
1810 1820 1830 1840 1850
WHSHEDRAEG IEGETLTASP QAPGSPEDSE GVPLISLPRV PQGGSQPGPS
1860 1870 1880 1890 1900
RGLSLMSSQG SVDSDHLGYD GGSSGSDSEG PNDTLGEKAP FTLRTPPGPA
1910 1920 1930 1940 1950
PPQPSLSGLP GPCLPDFWLI VRVLQDRVEV YAHARSLIRE DGGPGTECRH
1960 1970 1980 1990 2000
LQQLLVRRVG EICREVNQRL LLQDLHDSHV CNSLLVAESE EDLWRSETPF
2010 2020 2030 2040 2050
HSRQRAPLPS DDYAADESCA PRGYLAATMQ FVPGHFSCDV VWGTVIRVHS
2060 2070 2080 2090 2100
RLKMGPSMGV SRAIQALRSV LNAFSVVNRK NMFVYQERAT KAVYYLRLLE
2110 2120 2130 2140 2150
TSCSDRPWKG DALPPSLALS RSQEPIYSEE ASGPRSPLDM VSSRSSDAAR
2160 2170 2180 2190 2200
PVGQVDRHIQ LLVHGVGQAG PEITDELVRV LCRRLDEATL DVITVMLVRN
2210 2220 2230 2240 2250
CKLTPADVEF IQPPGSLPSE VLHLALPTSC RPWLPALAWY LRQNLLIFLH
2260 2270 2280 2290 2300
SPKYTDSNSR NHFQHPLPPQ GGLPDLDIYL YNKPGGQGTG GKGVACITLA
2310 2320 2330 2340 2350
FVDEGGAPLS LALWPPSSPG PPDPLREEEF EQLTQVIRCP VVVDSSSAQN
2360 2370 2380 2390 2400
GAPRLRLDVW EKGNISIVQL EEKLRGAARQ ALADAIIELQ LLPASLCTED
2410 2420 2430 2440 2450
TPTGSLRNGS LETKSSAGRA STFPPAPVPG EPVTPPSKAG RRSFWDMLSK
2460 2470 2480 2490 2500
TECGDLGSPK TTDDIVLDRP EDTRGRRRHK TESVRTPGGA ERAPGSDSGA
2510 2520 2530 2540 2550
QRQKRRTTQL EEGEVGTLHP VFARVAQRWM EFMVQIGCAS VSRSSAHMVS
2560 2570 2580 2590 2600
RFLLPSILSE FTALVTSMAG DTSVRIFEQH LGSEPEIFGP CSPGQLGPSP
2610 2620 2630 2640 2650
RPAAERHLLL LGRNFLQWRR PTQQAAKAMQ RFEPGGDGSS GRNAPRQRLL
2660 2670 2680 2690 2700
LLEVVDKKLQ LLTYNWAPDL GAALGRALVR LVQWQNARAH LIFCLLSQKL
2710 2720 2730 2740 2750
GLFHHYGQLD FPVRDEKEPN PFLLPTMEVE TLIRSASPPL SREQGRLSGS
2760 2770 2780 2790 2800
SRGGGPLPLD TFPFDEALRD ITAARPSSVL GPVPRPPDPV TYHGQQFLEI
2810 2820 2830 2840 2850
KMAERRELER QMKMENLFVT WQQRSTPATM PISAGELETL KQSSRLVHYC
2860 2870 2880 2890 2900
ATAMLFDPAA WLHGPPETSG PPDGQRRHRP ESGSGSREAP TSCESLDVSP
2910 2920 2930 2940 2950
PGAREEPWLK ELSLAFLQQY VQYLQSIGFV LVPLRPPSPA RSTSRPRAMA
2960 2970 2980 2990 3000
ILGTEGRGSF SCPKTKTDGS PKSTSSPVTT YHLQRALPGG IILMELAFQG
3010 3020 3030 3040 3050
CYFCVKQFAL ECSRIPMGQA VNSQLSMLFT EECDKVRDLM HVHSFSYDFH
3060 3070 3080 3090 3100
LRLVHQHVLG AHLVLRHGYH LTTFLRHFLA HHPDGPHFGR NHIYQGTLEL
3110 3120 3130 3140 3150
PTPLIAAHQL YNYVADHASS YHMKPLRMAR PGGPEHNEYA LVSAWHSSGS
3160 3170 3180 3190 3200
YLDSEGLRHQ DDFDVSLLVC HCAAPFEEQG EAERHVLRLQ FFVVLTSQRE
3210 3220 3230 3240 3250
LFPRLTADMR RFRKPPRLPP EPEAPGSSAG SPGEASGLIL APGPAPLFPP
3260 3270 3280 3290 3300
LAAEVGMARA RLAQLVRLAG GHCRRDTLWK RLFLLEPPGP DRLRLGGRLA
3310 3320 3330 3340 3350
LAELEELLEA VHAKSIGDID PQLDCFLSMT VSWYQSLIKV LLSRFPQSCR
3360 3370 3380 3390 3400
HFQSPDLGTQ YLVVLNQKFT DCFVLVFLDS HLGKTSLTVV FREPFPVQPQ
3410 3420 3430
DSESPPAQLV STYHHLESVI NTACFTLWTR LL
Note: Gene prediction based on similarity to mouse ortholog. No experimental confirmation available.
Length:3,432
Mass (Da):378,029
Last modified:October 5, 2010 - 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:iE65E415FA8C55BC1
GO
Isoform 2 (identifier: Q5T011-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1015-1020: EPEGVP → AAWGRS
     1021-3432: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:1,020
Mass (Da):113,485
Checksum:iD5E0DC50CF82F336
GO
Isoform 3 (identifier: Q5T011-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1015-1071: Missing.

Show »
Length:3,375
Mass (Da):371,855
Checksum:iA0656FB4AD15B05E
GO
Isoform 4 (identifier: Q5T011-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-53: Missing.
     167-180: VLVQGCLLDPSQRE → RQGFTMLARLPSNF
     181-3432: Missing.

Show »
Length:178
Mass (Da):20,286
Checksum:i18612FFDFD9FE130
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRY5A0A1W2PRY5_HUMAN
KICSTOR complex protein SZT2
SZT2
597Annotation 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>
A0A0C4DG05A0A0C4DG05_HUMAN
Protein SZT2
SZT2
168Annotation 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>
A0A1W2PQY2A0A1W2PQY2_HUMAN
KICSTOR complex protein SZT2
SZT2
315Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH52802 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI51233 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15649 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC03755 differs from that shown. Probable cloning artifact.Curated
The sequence BAC86771 differs from that shown. Probable cloning artifact.Curated
The sequence BF926328 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence BF926328 differs from that shown. Reason: Frameshift.Curated
The sequence BU101724 differs from that shown. Reason: Frameshift.Curated

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 conflicti167V → G in BU101724 (PubMed:15028280).Curated1
Sequence conflicti309N → H in BU101724 (PubMed:15028280).Curated1
Sequence conflicti315F → L in BU101724 (PubMed:15028280).Curated1
Sequence conflicti323S → A in BU101724 (PubMed:15028280).Curated1
Sequence conflicti446P → S in BAC85157 (Ref. 5) Curated1
Sequence conflicti3332S → P in BAB15649 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07857325 – 3432Missing in EIEE18. 1 PublicationAdd BLAST3408
Natural variantiVAR_078574499S → I in EIEE18; alters splice sites and probably alternative splicing. 1 PublicationCorresponds to variant dbSNP:rs886041034EnsemblClinVar.1
Natural variantiVAR_078575698 – 3432Missing in EIEE18. 1 PublicationAdd BLAST2735
Natural variantiVAR_0785761458Missing Found in patients with intellectual disability; unknown pathological significance. 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_03991352 – 53Missing in isoform 4. 1 Publication2
Alternative sequenceiVSP_039914167 – 180VLVQG…PSQRE → RQGFTMLARLPSNF in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_039915181 – 3432Missing in isoform 4. 1 PublicationAdd BLAST3252
Alternative sequenceiVSP_0399161015 – 1071Missing in isoform 3. 2 PublicationsAdd BLAST57
Alternative sequenceiVSP_0344561015 – 1020EPEGVP → AAWGRS in isoform 2. 1 Publication6
Alternative sequenceiVSP_0344571021 – 3432Missing in isoform 2. 1 PublicationAdd BLAST2412

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
AL139289 Genomic DNA No translation available.
AL583862 Genomic DNA No translation available.
BC017576 mRNA Translation: AAH17576.1
BC041069 mRNA Translation: AAH41069.1
BC052802 mRNA Translation: AAH52802.1 Different initiation.
BC082968 mRNA Translation: AAH82968.1
BC151232 mRNA Translation: AAI51233.1 Different initiation.
BU101724 mRNA No translation available.
BF926328 mRNA No translation available.
AK131107 mRNA Translation: BAC85157.1
AB007936 mRNA Translation: BAA32312.2
AK027078 mRNA Translation: BAB15649.1 Different initiation.
AK091821 mRNA Translation: BAC03755.1 Sequence problems.
AK126972 mRNA Translation: BAC86771.1 Sequence problems.
AL117402 mRNA Translation: CAB55903.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30694.2 [Q5T011-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00093
T17213

NCBI Reference Sequences

More...
RefSeqi
NP_056099.3, NM_015284.3 [Q5T011-5]
XP_006710564.1, XM_006710501.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372450; ENSP00000361528; ENSG00000198198 [Q5T011-7]
ENST00000562955; ENSP00000457168; ENSG00000198198 [Q5T011-5]
ENST00000634258; ENSP00000489255; ENSG00000198198 [Q5T011-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23334

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23334

UCSC genome browser

More...
UCSCi
uc001cjh.4 human [Q5T011-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL139289 Genomic DNA No translation available.
AL583862 Genomic DNA No translation available.
BC017576 mRNA Translation: AAH17576.1
BC041069 mRNA Translation: AAH41069.1
BC052802 mRNA Translation: AAH52802.1 Different initiation.
BC082968 mRNA Translation: AAH82968.1
BC151232 mRNA Translation: AAI51233.1 Different initiation.
BU101724 mRNA No translation available.
BF926328 mRNA No translation available.
AK131107 mRNA Translation: BAC85157.1
AB007936 mRNA Translation: BAA32312.2
AK027078 mRNA Translation: BAB15649.1 Different initiation.
AK091821 mRNA Translation: BAC03755.1 Sequence problems.
AK126972 mRNA Translation: BAC86771.1 Sequence problems.
AL117402 mRNA Translation: CAB55903.1
CCDSiCCDS30694.2 [Q5T011-5]
PIRiT00093
T17213
RefSeqiNP_056099.3, NM_015284.3 [Q5T011-5]
XP_006710564.1, XM_006710501.3

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

BioGridi116921, 26 interactors
CORUMiQ5T011
IntActiQ5T011, 23 interactors
STRINGi9606.ENSP00000457168

PTM databases

iPTMnetiQ5T011
PhosphoSitePlusiQ5T011

Polymorphism and mutation databases

BioMutaiSZT2
DMDMi308153547

Proteomic databases

EPDiQ5T011
jPOSTiQ5T011
MassIVEiQ5T011
MaxQBiQ5T011
PaxDbiQ5T011
PeptideAtlasiQ5T011
PRIDEiQ5T011
ProteomicsDBi64109 [Q5T011-1]
64110 [Q5T011-4]
64111 [Q5T011-5]
64112 [Q5T011-7]

Genome annotation databases

EnsembliENST00000372450; ENSP00000361528; ENSG00000198198 [Q5T011-7]
ENST00000562955; ENSP00000457168; ENSG00000198198 [Q5T011-5]
ENST00000634258; ENSP00000489255; ENSG00000198198 [Q5T011-1]
GeneIDi23334
KEGGihsa:23334
UCSCiuc001cjh.4 human [Q5T011-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23334
DisGeNETi23334

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SZT2
HGNCiHGNC:29040 SZT2
HPAiHPA029012
MalaCardsiSZT2
MIMi615463 gene
615476 phenotype
neXtProtiNX_Q5T011
OpenTargetsiENSG00000198198
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA142671628

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE3I Eukaryota
ENOG410XTCX LUCA
GeneTreeiENSGT00390000018402
InParanoidiQ5T011
KOiK23298
OMAiRCPVYVY
OrthoDBi347778at2759
PhylomeDBiQ5T011

Miscellaneous databases

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

More...
ChiTaRSi
SZT2 human

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

More...
GenomeRNAii
23334
PharosiQ5T011

Protein Ontology

More...
PROi
PR:Q5T011

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198198 Expressed in 188 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ5T011 baseline and differential
GenevisibleiQ5T011 HS

Family and domain databases

InterProiView protein in InterPro
IPR033228 SZT2
PANTHERiPTHR14918 PTHR14918, 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 nameiSZT2_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: Q5T011
Secondary accession number(s): A0PJK5
, A7E2X4, O75055, Q5JUY7, Q5T012, Q5XKC7, Q6ZNI8, Q6ZT24, Q7Z636, Q8NAY9, Q9H5H7, Q9UFQ8
<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: February 6, 2007
Last sequence update: October 5, 2010
Last modified: October 16, 2019
This is version 125 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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