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KICSTOR complex protein SZT2 (Seizure threshold 2 protein homolog)

 SZT2_HUMAN              Reviewed;        3432 AA.
Q5T011; A0PJK5; A7E2X4; O75055; Q5JUY7; Q5T012; Q5XKC7; Q6ZNI8;
Q6ZT24; Q7Z636; Q8NAY9; Q9H5H7; Q9UFQ8;
06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
05-OCT-2010, sequence version 3.
25-OCT-2017, entry version 109.
RecName: Full=KICSTOR complex protein SZT2 {ECO:0000305};
AltName: Full=Seizure threshold 2 protein homolog {ECO:0000312|HGNC:HGNC:29040};
Name=SZT2 {ECO:0000312|HGNC:HGNC:29040};
Synonyms=C1orf84 {ECO:0000312|HGNC:HGNC:29040},
KIAA0467 {ECO:0000312|EMBL:BAA32312.2};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 2797-3432 (ISOFORM 1), AND NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 689-3432 (ISOFORM 3).
TISSUE=Lung, Spleen, and Urinary bladder;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 142-330 (ISOFORM 1).
PubMed=15028280; DOI=10.1016/j.ygeno.2003.07.003;
Xie H., Diber A., Pollock S., Nemzer S., Safer H., Meloon B.,
Olson A., Hwang J.J., Endress G.A., Savitsky K., Gill-More R.;
"Bridging expressed sequence alignments through targeted cDNA
sequencing.";
Genomics 83:572-576(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-369 (ISOFORM 1).
PubMed=10737800; DOI=10.1073/pnas.97.7.3491;
Dias Neto E., Correa R.G., Verjovski-Almeida S., Briones M.R.S.,
Nagai M.A., da Silva W. Jr., Zago M.A., Bordin S., Costa F.F.,
Goldman G.H., Carvalho A.F., Matsukuma A., Baia G.S., Simpson D.H.,
Brunstein A., de Oliveira P.S.L., Bucher P., Jongeneel C.V.,
O'Hare M.J., Soares F., Brentani R.R., Reis L.F.L., de Souza S.J.,
Simpson A.J.G.;
"Shotgun sequencing of the human transcriptome with ORF expressed
sequence tags.";
Proc. Natl. Acad. Sci. U.S.A. 97:3491-3496(2000).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 424-3432 (ISOFORM 2).
TISSUE=Spleen;
Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
"The nucleotide sequence of a long cDNA clone isolated from human
spleen.";
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 689-3432 (ISOFORM 3).
TISSUE=Brain;
PubMed=9455484; DOI=10.1093/dnares/4.5.345;
Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D.,
Nomura N., Ohara O.;
"Characterization of cDNA clones in size-fractionated cDNA libraries
from human brain.";
DNA Res. 4:345-349(1997).
[7]
SEQUENCE REVISION.
Ohara O., Nagase T., Kikuno R.;
Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2849-3432 (ISOFORM 1).
TISSUE=Lung;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3099-3432 (ISOFORM 1).
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[10]
TISSUE SPECIFICITY.
PubMed=20045724; DOI=10.1016/j.freeradbiomed.2009.12.023;
Toutzaris D., Lewerenz J., Albrecht P., Jensen L.T., Letz J.,
Geerts A., Golz S., Methner A.;
"A novel giant peroxisomal superoxide dismutase motif-containing
protein.";
Free Radic. Biol. Med. 48:811-820(2010).
[11]
INVOLVEMENT IN EIEE18, VARIANTS EIEE18 25-ARG--LEU-3432 DEL; ILE-499
AND 698-GLN--LEU-3432 DEL, AND TISSUE SPECIFICITY.
PubMed=23932106; DOI=10.1016/j.ajhg.2013.07.005;
Basel-Vanagaite L., Hershkovitz T., Heyman E., Raspall-Chaure M.,
Kakar N., Smirin-Yosef P., Vila-Pueyo M., Kornreich L., Thiele H.,
Bode H., Lagovsky I., Dahary D., Haviv A., Hubshman M.W.,
Pasmanik-Chor M., Nurnberg P., Gothelf D., Kubisch C., Shohat M.,
Macaya A., Borck G.;
"Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy
and dysmorphic corpus callosum.";
Am. J. Hum. Genet. 93:524-529(2013).
[12]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1276 AND SER-1651, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[13]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1416 AND THR-1641, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[14]
FUNCTION, IDENTIFICATION IN THE KICSTOR COMPLEX, AND SUBCELLULAR
LOCATION.
PubMed=28199306; DOI=10.1038/nature21423;
Wolfson R.L., Chantranupong L., Wyant G.A., Gu X., Orozco J.M.,
Shen K., Condon K.J., Petri S., Kedir J., Scaria S.M.,
Abu-Remaileh M., Frankel W.N., Sabatini D.M.;
"KICSTOR recruits GATOR1 to the lysosome and is necessary for
nutrients to regulate mTORC1.";
Nature 543:438-442(2017).
[15]
FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, AND REGION.
PubMed=28199315; DOI=10.1038/nature21378;
Peng M., Yin N., Li M.O.;
"SZT2 dictates GATOR control of mTORC1 signalling.";
Nature 543:433-437(2017).
[16]
VARIANT PHE-1458 DEL.
PubMed=24324832; DOI=10.1371/journal.pone.0082810;
Falcone M., Yariz K.O., Ross D.B., Foster J. II, Menendez I.,
Tekin M.;
"An amino acid deletion inSZT2 in a family with non-syndromic
intellectual disability.";
PLoS ONE 8:E82810-E82810(2013).
-!- FUNCTION: 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).
{ECO:0000250|UniProtKB:A2A9C3, ECO:0000269|PubMed:28199306,
ECO:0000269|PubMed:28199315}.
-!- SUBUNIT: 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.
{ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}.
-!- INTERACTION:
O43186:CRX; NbExp=3; IntAct=EBI-10245139, EBI-748171;
Q04864:REL; NbExp=3; IntAct=EBI-10245139, EBI-307352;
P15884:TCF4; NbExp=3; IntAct=EBI-10245139, EBI-533224;
-!- SUBCELLULAR LOCATION: Lysosome membrane
{ECO:0000269|PubMed:28199306, ECO:0000269|PubMed:28199315}.
Peroxisome {ECO:0000250|UniProtKB:A2A9C3}. Note=Localization to
lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306,
ECO:0000269|PubMed:28199315}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q5T011-1; Sequence=Displayed;
Note=Gene prediction based on similarity to mouse ortholog. No
experimental confirmation available.;
Name=2;
IsoId=Q5T011-4; Sequence=VSP_034456, VSP_034457;
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.;
Name=3;
IsoId=Q5T011-5; Sequence=VSP_039916;
Name=4;
IsoId=Q5T011-7; Sequence=VSP_039913, VSP_039914, VSP_039915;
-!- TISSUE SPECIFICITY: Expressed in the brain, predominantly in the
parietal and frontal cortex, as well as in dorsal root ganglia.
Expressed in peripheral white blood cells.
{ECO:0000269|PubMed:20045724, ECO:0000269|PubMed:23932106}.
-!- DISEASE: Epileptic encephalopathy, early infantile, 18 (EIEE18)
[MIM:615476]: A 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. {ECO:0000269|PubMed:23932106}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=AAH52802.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAI51233.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAB15649.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=BAC03755.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Sequence=BAC86771.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Sequence=BF926328; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};
Sequence=BF926328; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
Sequence=BU101724; Type=Frameshift; Positions=287; Evidence={ECO:0000305};
Sequence=CAI14886.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence=CAI23384.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; AL139289; CAI23384.1; ALT_SEQ; Genomic_DNA.
EMBL; AL139289; CAI23383.1; -; Genomic_DNA.
EMBL; AL583862; CAI14886.2; ALT_SEQ; Genomic_DNA.
EMBL; BC017576; AAH17576.1; -; mRNA.
EMBL; BC041069; AAH41069.1; -; mRNA.
EMBL; BC052802; AAH52802.1; ALT_INIT; mRNA.
EMBL; BC082968; AAH82968.1; -; mRNA.
EMBL; BC151232; AAI51233.1; ALT_INIT; mRNA.
EMBL; BU101724; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; BF926328; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; AK131107; BAC85157.1; -; mRNA.
EMBL; AB007936; BAA32312.2; -; mRNA.
EMBL; AK027078; BAB15649.1; ALT_INIT; mRNA.
EMBL; AK091821; BAC03755.1; ALT_SEQ; mRNA.
EMBL; AK126972; BAC86771.1; ALT_SEQ; mRNA.
EMBL; AL117402; CAB55903.1; -; mRNA.
CCDS; CCDS30694.2; -. [Q5T011-5]
PIR; T00093; T00093.
PIR; T17213; T17213.
RefSeq; NP_056099.3; NM_015284.3. [Q5T011-5]
RefSeq; XP_006710564.1; XM_006710501.3. [Q5T011-1]
UniGene; Hs.643560; -.
ProteinModelPortal; Q5T011; -.
BioGrid; 116921; 12.
CORUM; Q5T011; -.
IntAct; Q5T011; 4.
MINT; MINT-5003883; -.
STRING; 9606.ENSP00000457168; -.
iPTMnet; Q5T011; -.
PhosphoSitePlus; Q5T011; -.
BioMuta; SZT2; -.
DMDM; 308153547; -.
EPD; Q5T011; -.
MaxQB; Q5T011; -.
PaxDb; Q5T011; -.
PeptideAtlas; Q5T011; -.
PRIDE; Q5T011; -.
Ensembl; ENST00000372450; ENSP00000361528; ENSG00000198198. [Q5T011-7]
Ensembl; ENST00000562955; ENSP00000457168; ENSG00000198198. [Q5T011-5]
Ensembl; ENST00000634258; ENSP00000489255; ENSG00000198198. [Q5T011-1]
GeneID; 23334; -.
KEGG; hsa:23334; -.
UCSC; uc001cjh.4; human. [Q5T011-1]
CTD; 23334; -.
DisGeNET; 23334; -.
EuPathDB; HostDB:ENSG00000198198.14; -.
GeneCards; SZT2; -.
H-InvDB; HIX0159961; -.
HGNC; HGNC:29040; SZT2.
HPA; HPA029012; -.
MalaCards; SZT2; -.
MIM; 615463; gene.
MIM; 615476; phenotype.
neXtProt; NX_Q5T011; -.
OpenTargets; ENSG00000198198; -.
Orphanet; 369894; Early infantile epileptic encephalopathy without suppression burst.
PharmGKB; PA142671628; -.
PharmGKB; PA142672532; -.
eggNOG; ENOG410IE3I; Eukaryota.
eggNOG; ENOG410XTCX; LUCA.
GeneTree; ENSGT00390000018402; -.
HOVERGEN; HBG080139; -.
InParanoid; Q5T011; -.
OMA; DYRAPFL; -.
OrthoDB; EOG091G0OT8; -.
PhylomeDB; Q5T011; -.
ChiTaRS; SZT2; human.
GenomeRNAi; 23334; -.
PRO; PR:Q5T011; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000198198; -.
CleanEx; HS_KIAA0467; -.
ExpressionAtlas; Q5T011; baseline and differential.
Genevisible; Q5T011; HS.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0140007; C:KICSTOR complex; IDA:UniProtKB.
GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
GO; GO:0005777; C:peroxisome; ISS:UniProtKB.
GO; GO:0034198; P:cellular response to amino acid starvation; IMP:UniProtKB.
GO; GO:0042149; P:cellular response to glucose starvation; IMP:UniProtKB.
GO; GO:0007417; P:central nervous system development; ISS:UniProtKB.
GO; GO:0021540; P:corpus callosum morphogenesis; IMP:UniProtKB.
GO; GO:1904262; P:negative regulation of TORC1 signaling; IMP:UniProtKB.
GO; GO:0043473; P:pigmentation; IEA:Ensembl.
GO; GO:0009791; P:post-embryonic development; ISS:UniProtKB.
GO; GO:0061462; P:protein localization to lysosome; IMP:UniProtKB.
GO; GO:1901668; P:regulation of superoxide dismutase activity; ISS:UniProtKB.
InterPro; IPR033228; SZT2.
PANTHER; PTHR14918; PTHR14918; 2.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Disease mutation; Epilepsy;
Lysosome; Membrane; Peroxisome; Phosphoprotein; Reference proteome.
CHAIN 1 3432 KICSTOR complex protein SZT2.
/FTId=PRO_0000275898.
REGION 1083 1189 Mediates interaction with the GATOR1
complex. {ECO:0000269|PubMed:28199315}.
MOD_RES 1276 1276 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 1416 1416 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 1641 1641 Phosphothreonine.
{ECO:0000244|PubMed:24275569}.
MOD_RES 1651 1651 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 52 53 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_039913.
VAR_SEQ 167 180 VLVQGCLLDPSQRE -> RQGFTMLARLPSNF (in
isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_039914.
VAR_SEQ 181 3432 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_039915.
VAR_SEQ 1015 1071 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9455484}.
/FTId=VSP_039916.
VAR_SEQ 1015 1020 EPEGVP -> AAWGRS (in isoform 2).
{ECO:0000303|Ref.5}.
/FTId=VSP_034456.
VAR_SEQ 1021 3432 Missing (in isoform 2).
{ECO:0000303|Ref.5}.
/FTId=VSP_034457.
VARIANT 25 3432 Missing (in EIEE18).
{ECO:0000269|PubMed:23932106}.
/FTId=VAR_078573.
VARIANT 499 499 S -> I (in EIEE18; alters splice sites
and probably alternative splicing).
{ECO:0000269|PubMed:23932106}.
/FTId=VAR_078574.
VARIANT 698 3432 Missing (in EIEE18).
{ECO:0000269|PubMed:23932106}.
/FTId=VAR_078575.
VARIANT 1458 1458 Missing (found in patients with
intellectual disability; unknown
pathological significance).
{ECO:0000269|PubMed:24324832}.
/FTId=VAR_078576.
CONFLICT 167 167 V -> G (in Ref. 3; BU101724).
{ECO:0000305}.
CONFLICT 309 309 N -> H (in Ref. 3; BU101724).
{ECO:0000305}.
CONFLICT 315 315 F -> L (in Ref. 3; BU101724).
{ECO:0000305}.
CONFLICT 323 323 S -> A (in Ref. 3; BU101724).
{ECO:0000305}.
CONFLICT 446 446 P -> S (in Ref. 5; BAC85157).
{ECO:0000305}.
CONFLICT 3332 3332 S -> P (in Ref. 8; BAB15649).
{ECO:0000305}.
SEQUENCE 3432 AA; 378029 MW; E65E415FA8C55BC1 CRC64;
MASERPEPEV EEAGQVFLLM KKDYRISRNV RLAWFLSHLH QTVQATPQEM LLQSEQELEV
LSVLPPGWQP DEPVVPRPFL LVPSTRVTFL AWQYRFVIEL DLSPSTGIVD DSTGEILFDE
VFHALSRCLG GLLRPFRVPG SCIDFQPEIY VTIQAYSSII GLQSHQVLVQ GCLLDPSQRE
VFLQQIYEQL CLFEDKVATM LQQQYDPQSQ AEDQSPDSGD LLGRKVGVSM VTADLGLVSM
IRQGILALQL LPSNSSAGII VITDGVTSVP DVAVCETLLN QLRSGTVACS FVQVGGVYSY
DCSFGHVPNV ELMKFIAMAT FGSYLSTCPE PEPGNLGLTV YHRAFLLYSF LRSGEALNPE
YYCGSQHRLF NEHLVSASSN PALALRRKKH TEKEVPADLV STVSVRLREG YSVREVTLAK
GGSQLEVKLV LLWKHNMRIE YVAMAPWPLE PEGPRVTRVE VTMEGGYDIL HDVSCALRQP
IRSLYRTHVI RRFWNTLQSI NQTDQMLAHL QSFSSVPEHF TLPDSTKSGV PLFYIPPGST
TPVLSLQPSG SDSSHAQFAA YWKPVLSMDA NSWQRWLHMH RLVLILEHDT PIPKHLHTPG
SNGRYSTIQC RISHSSLTSL LRDWSSFVLV EGYSYVKLLS SAPDQPPNSF YMVRIISKAP
CMVLRLGFPI GTPAPARHKI VSGLREEILR LRFPHRVQSK EPTPKVKRKG LGGAGGGSSP
SKSPPVLGPQ QALSDRPCLV VLHKPLDKLL IRYEKLPLDY RAPFLLTLEP PGPLPLVSGR
SASSSLASLS RYLYHQRWLW SVPSGLAPAL PLSAIAQLLS ILTEVRLSEG FHFACSGEGI
INMVLELPIQ NEPPGQAAAE EKHTCVVQYI LFPPHSTSTK DSFSTDDDND VEVEALEGDS
ELNLVTEVWV EPQYGRVGPG PGIWKHLQDL TYSEIPQALH PRDAACIGSM LSFEYLIQLC
QSKEWGPLPP EPRVSDGLDQ GGDTCVHEIP FHFDLMGLLP QCQQLQMFFL LLAREPEGVP
FAEGSCPAND MVLCLLHSCL GQELSDREIP LTPVDQAAFL SEVLRRTCHV PGAEGPLLGV
HGIPKEQAVG STQATGDSAF TSLSVGLPET LKPLISAQPP QWRCYARLVN PQHVFLTFLP
ATFSDVQRLA ACGLEGPPQE ETKPKFGDWS GAPSLKDLGG TGIKATKSHV PVLSVTLASD
NAQNQGELSP PFRRDLQAYA GRQASQTESA DGPRTRCPVY IYSCSLEALR EQMVGMQPPQ
APRDLIFRTQ FLDHPSPSSA WMEPRYKEAA NHCALLQEHA QRCYVRGLFR SLQQAQSVTS
QDLLTAVDAC EELLQEIDIT PFLLALCGHT WGLPHAPPSP GPLSPGPFSS SMEEGAEPRE
RAILASESSI ETEDLSEPEF QSTRVPGIPD PGPEISLTDV CQLRGEAHGA LHSVIQEKFL
EISRLHFRTV PSNPHYFFYC PPSSRREDEG PRDTVDRKIS DLEFSEAELM GEEGDTSACC
VVTESDPELE VEYRESRESD LGPAGLDSAS LSDVDTVNPD EDSFSILGGD SPTGPESFLH
DLPPLFLHLT CSVRLRGQHS SVPVCSLPTC LGQVLSSLEG PPVGGRVPLR DLSVTLDVFM
LTLPLEVELP TASDPQHHRS TSESSASFPR SPGQPSSLRS DDGLGPPLPP PEEERHPGLS
NLATPHRLAI ETTMNEIRWL LEDEMVGALR RGGIPQSPAL HRAAAHIHSS PGRSTCLRQT
LPLSFVFGPE RSLTQFKEEF RRLHLPGHVL LEDPDSGFFF VAAGQQPGGS HGEPSSAAWA
WHSHEDRAEG IEGETLTASP QAPGSPEDSE GVPLISLPRV PQGGSQPGPS RGLSLMSSQG
SVDSDHLGYD GGSSGSDSEG PNDTLGEKAP FTLRTPPGPA PPQPSLSGLP GPCLPDFWLI
VRVLQDRVEV YAHARSLIRE DGGPGTECRH LQQLLVRRVG EICREVNQRL LLQDLHDSHV
CNSLLVAESE EDLWRSETPF HSRQRAPLPS DDYAADESCA PRGYLAATMQ FVPGHFSCDV
VWGTVIRVHS RLKMGPSMGV SRAIQALRSV LNAFSVVNRK NMFVYQERAT KAVYYLRLLE
TSCSDRPWKG DALPPSLALS RSQEPIYSEE ASGPRSPLDM VSSRSSDAAR PVGQVDRHIQ
LLVHGVGQAG PEITDELVRV LCRRLDEATL DVITVMLVRN CKLTPADVEF IQPPGSLPSE
VLHLALPTSC RPWLPALAWY LRQNLLIFLH SPKYTDSNSR NHFQHPLPPQ GGLPDLDIYL
YNKPGGQGTG GKGVACITLA FVDEGGAPLS LALWPPSSPG PPDPLREEEF EQLTQVIRCP
VVVDSSSAQN GAPRLRLDVW EKGNISIVQL EEKLRGAARQ ALADAIIELQ LLPASLCTED
TPTGSLRNGS LETKSSAGRA STFPPAPVPG EPVTPPSKAG RRSFWDMLSK TECGDLGSPK
TTDDIVLDRP EDTRGRRRHK TESVRTPGGA ERAPGSDSGA QRQKRRTTQL EEGEVGTLHP
VFARVAQRWM EFMVQIGCAS VSRSSAHMVS RFLLPSILSE FTALVTSMAG DTSVRIFEQH
LGSEPEIFGP CSPGQLGPSP RPAAERHLLL LGRNFLQWRR PTQQAAKAMQ RFEPGGDGSS
GRNAPRQRLL LLEVVDKKLQ LLTYNWAPDL GAALGRALVR LVQWQNARAH LIFCLLSQKL
GLFHHYGQLD FPVRDEKEPN PFLLPTMEVE TLIRSASPPL SREQGRLSGS SRGGGPLPLD
TFPFDEALRD ITAARPSSVL GPVPRPPDPV TYHGQQFLEI KMAERRELER QMKMENLFVT
WQQRSTPATM PISAGELETL KQSSRLVHYC ATAMLFDPAA WLHGPPETSG PPDGQRRHRP
ESGSGSREAP TSCESLDVSP PGAREEPWLK ELSLAFLQQY VQYLQSIGFV LVPLRPPSPA
RSTSRPRAMA ILGTEGRGSF SCPKTKTDGS PKSTSSPVTT YHLQRALPGG IILMELAFQG
CYFCVKQFAL ECSRIPMGQA VNSQLSMLFT EECDKVRDLM HVHSFSYDFH LRLVHQHVLG
AHLVLRHGYH LTTFLRHFLA HHPDGPHFGR NHIYQGTLEL PTPLIAAHQL YNYVADHASS
YHMKPLRMAR PGGPEHNEYA LVSAWHSSGS YLDSEGLRHQ DDFDVSLLVC HCAAPFEEQG
EAERHVLRLQ FFVVLTSQRE LFPRLTADMR RFRKPPRLPP EPEAPGSSAG SPGEASGLIL
APGPAPLFPP LAAEVGMARA RLAQLVRLAG GHCRRDTLWK RLFLLEPPGP DRLRLGGRLA
LAELEELLEA VHAKSIGDID PQLDCFLSMT VSWYQSLIKV LLSRFPQSCR HFQSPDLGTQ
YLVVLNQKFT DCFVLVFLDS HLGKTSLTVV FREPFPVQPQ DSESPPAQLV STYHHLESVI
NTACFTLWTR LL


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