STH_HUMAN
ID STH_HUMAN Reviewed; 128 AA.
AC Q8IWL8; A1L3X7;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=Saitohin;
GN Name=STH;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-7, AND TISSUE SPECIFICITY.
RX PubMed=12032355; DOI=10.1073/pnas.112194599;
RA Conrad C., Vianna C., Freeman M., Davies P.;
RT "A polymorphic gene nested within an intron of the tau gene: implications
RT for Alzheimer's disease.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:7751-7756(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH PRDX6.
RX PubMed=16186110; DOI=10.1074/jbc.m506116200;
RA Gao L., Tse S.-W., Conrad C., Andreadis A.;
RT "Saitohin, which is nested in the tau locus and confers allele-specific
RT susceptibility to several neurodegenerative diseases, interacts with
RT peroxiredoxin 6.";
RL J. Biol. Chem. 280:39268-39272(2005).
RN [4]
RP VARIANT ARG-7.
RX PubMed=12402275; DOI=10.1002/ana.10362;
RA Cook L., Brayne C.E., Easton D., Evans J.G., Xuereb J., Cairns N.J.,
RA Rubinsztein D.C.;
RT "No evidence for an association between Saitohin Q7R polymorphism and
RT Alzheimer's disease.";
RL Ann. Neurol. 52:690-691(2002).
RN [5]
RP VARIANT ARG-7.
RX PubMed=12913211; DOI=10.1212/01.wnl.0000073140.25533.90;
RA de Silva R., Hope A., Pittman A., Weale M.E., Morris H.R., Wood N.W.,
RA Lees A.J.;
RT "Strong association of the Saitohin gene Q7 variant with progressive
RT supranuclear palsy.";
RL Neurology 61:407-409(2003).
CC -!- SUBUNIT: Interacts with PRDX6. {ECO:0000269|PubMed:16186110}.
CC -!- INTERACTION:
CC Q8IWL8; P05067: APP; NbExp=3; IntAct=EBI-12843506, EBI-77613;
CC Q8IWL8; P33240: CSTF2; NbExp=3; IntAct=EBI-12843506, EBI-711360;
CC Q8IWL8; Q9H0L4: CSTF2T; NbExp=5; IntAct=EBI-12843506, EBI-747012;
CC Q8IWL8; O43559: FRS3; NbExp=3; IntAct=EBI-12843506, EBI-725515;
CC Q8IWL8; Q13064: MKRN3; NbExp=3; IntAct=EBI-12843506, EBI-2340269;
CC Q8IWL8; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-12843506, EBI-741158;
CC Q8IWL8; Q9UBV8: PEF1; NbExp=3; IntAct=EBI-12843506, EBI-724639;
CC Q8IWL8; P78337: PITX1; NbExp=3; IntAct=EBI-12843506, EBI-748265;
CC Q8IWL8; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-12843506, EBI-1389308;
CC Q8IWL8; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-12843506, EBI-358489;
CC Q8IWL8; P09234: SNRPC; NbExp=3; IntAct=EBI-12843506, EBI-766589;
CC Q8IWL8; Q5JUK2: SOHLH1; NbExp=3; IntAct=EBI-12843506, EBI-12288855;
CC Q8IWL8; P51687: SUOX; NbExp=3; IntAct=EBI-12843506, EBI-3921347;
CC Q8IWL8; Q92734: TFG; NbExp=3; IntAct=EBI-12843506, EBI-357061;
CC Q8IWL8; O43711: TLX3; NbExp=5; IntAct=EBI-12843506, EBI-3939165;
CC Q8IWL8; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-12843506, EBI-2559305;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16186110}. Nucleus
CC {ECO:0000269|PubMed:16186110}.
CC -!- TISSUE SPECIFICITY: Highest expression in placenta, muscle, fetal
CC brain, and adult brain, with lower expression in heart, kidney,
CC stomach, testis, and adrenal gland. In the central nervous system,
CC highest expression is in temporal lobe, hypothalamus, medulla and
CC spinal cord, with lower expression in other brain regions.
CC {ECO:0000269|PubMed:12032355}.
CC -!- POLYMORPHISM: The Arg-7 polymorphism may be associated with progressive
CC supranuclear palsy. {ECO:0000269|PubMed:12913211}.
CC -!- MISCELLANEOUS: Was called 'saitohin' in honor of the late Tsuanao
CC Saitoh and his laboratory.
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DR EMBL; AY179170; AAO03577.1; -; mRNA.
DR EMBL; BC130319; AAI30320.1; -; mRNA.
DR EMBL; BC130321; AAI30322.1; -; mRNA.
DR CCDS; CCDS54136.1; -.
DR RefSeq; NP_001007533.1; NM_001007532.2.
DR AlphaFoldDB; Q8IWL8; -.
DR BioGRID; 128918; 17.
DR IntAct; Q8IWL8; 16.
DR STRING; 9606.ENSP00000443168; -.
DR GlyGen; Q8IWL8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8IWL8; -.
DR PhosphoSitePlus; Q8IWL8; -.
DR BioMuta; STH; -.
DR MassIVE; Q8IWL8; -.
DR PaxDb; Q8IWL8; -.
DR PeptideAtlas; Q8IWL8; -.
DR PRIDE; Q8IWL8; -.
DR Antibodypedia; 57558; 73 antibodies from 8 providers.
DR DNASU; 246744; -.
DR Ensembl; ENST00000537309.1; ENSP00000443168.1; ENSG00000256762.1.
DR GeneID; 246744; -.
DR KEGG; hsa:246744; -.
DR MANE-Select; ENST00000537309.1; ENSP00000443168.1; NM_001007532.3; NP_001007533.1.
DR UCSC; uc002ijy.2; human.
DR CTD; 246744; -.
DR DisGeNET; 246744; -.
DR GeneCards; STH; -.
DR HGNC; HGNC:18839; STH.
DR HPA; ENSG00000256762; Tissue enriched (brain).
DR MIM; 607067; gene.
DR neXtProt; NX_Q8IWL8; -.
DR OpenTargets; ENSG00000256762; -.
DR PharmGKB; PA162405011; -.
DR VEuPathDB; HostDB:ENSG00000256762; -.
DR eggNOG; ENOG502TEQ0; Eukaryota.
DR GeneTree; ENSGT00910000148294; -.
DR HOGENOM; CLU_1958835_0_0_1; -.
DR InParanoid; Q8IWL8; -.
DR OMA; WMIQVAR; -.
DR OrthoDB; 1468898at2759; -.
DR PhylomeDB; Q8IWL8; -.
DR PathwayCommons; Q8IWL8; -.
DR SignaLink; Q8IWL8; -.
DR BioGRID-ORCS; 246744; 11 hits in 1057 CRISPR screens.
DR GeneWiki; STH_(gene); -.
DR GenomeRNAi; 246744; -.
DR Pharos; Q8IWL8; Tbio.
DR PRO; PR:Q8IWL8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8IWL8; protein.
DR Bgee; ENSG00000256762; Expressed in corpus callosum and 50 other tissues.
DR Genevisible; Q8IWL8; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0048026; P:positive regulation of mRNA splicing, via spliceosome; IGI:UniProtKB.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..128
FT /note="Saitohin"
FT /id="PRO_0000072272"
FT REGION 77..128
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 77..102
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 7
FT /note="Q -> R (in dbSNP:rs62063857)"
FT /evidence="ECO:0000269|PubMed:12032355,
FT ECO:0000269|PubMed:12402275, ECO:0000269|PubMed:12913211"
FT /id="VAR_019548"
SQ SEQUENCE 128 AA; 13652 MW; 6D14C8BE6C540F0D CRC64;
MSEGGGQVSC IFAAPTRLCR WPALIECGVN LTQPLCEWMI QVARDRTLSL AWEVASLLTL
SSSEVGLEGV GTIWPSSYSS EESSRNGAEQ GRQLSIEGPF QGQNCPSHPA AALPLPMRGE
SQATSCQV
