SBSN_HUMAN
ID SBSN_HUMAN Reviewed; 590 AA.
AC Q6UWP8; A8K5J0; E9PBV3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2013, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Suprabasin;
DE Flags: Precursor;
GN Name=SBSN; ORFNames=UNQ698/PRO1343;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLY-419.
RC TISSUE=Cervix;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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 [6]
RP TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=12228223; DOI=10.1074/jbc.m205380200;
RA Park G.T., Lim S.E., Jang S.-I., Morasso M.I.;
RT "Suprabasin, a novel epidermal differentiation marker and potential
RT cornified envelope precursor.";
RL J. Biol. Chem. 277:45195-45202(2002).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- INTERACTION:
CC Q6UWP8-2; P61601: NCALD; NbExp=3; IntAct=EBI-18282351, EBI-749635;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6UWP8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWP8-2; Sequence=VSP_044973;
CC -!- TISSUE SPECIFICITY: Detected in thymus, uterus and esophagus.
CC {ECO:0000269|PubMed:12228223}.
CC -!- INDUCTION: Up-regulated in differentiating keratinocytes.
CC {ECO:0000269|PubMed:12228223}.
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DR EMBL; AY358701; AAQ89064.1; -; mRNA.
DR EMBL; AK291305; BAF83994.1; -; mRNA.
DR EMBL; BX648076; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC002389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC063640; AAH63640.1; -; mRNA.
DR CCDS; CCDS12464.1; -. [Q6UWP8-2]
DR CCDS; CCDS54253.1; -. [Q6UWP8-1]
DR RefSeq; NP_001159506.1; NM_001166034.1. [Q6UWP8-1]
DR RefSeq; NP_001159507.1; NM_001166035.1.
DR RefSeq; NP_940940.1; NM_198538.3. [Q6UWP8-2]
DR AlphaFoldDB; Q6UWP8; -.
DR BioGRID; 131933; 134.
DR IntAct; Q6UWP8; 27.
DR MINT; Q6UWP8; -.
DR STRING; 9606.ENSP00000430242; -.
DR GlyGen; Q6UWP8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6UWP8; -.
DR PhosphoSitePlus; Q6UWP8; -.
DR BioMuta; SBSN; -.
DR DMDM; 449081282; -.
DR EPD; Q6UWP8; -.
DR jPOST; Q6UWP8; -.
DR MassIVE; Q6UWP8; -.
DR PaxDb; Q6UWP8; -.
DR PeptideAtlas; Q6UWP8; -.
DR PRIDE; Q6UWP8; -.
DR ProteomicsDB; 19302; -.
DR ProteomicsDB; 67511; -. [Q6UWP8-1]
DR Antibodypedia; 54088; 90 antibodies from 16 providers.
DR DNASU; 374897; -.
DR Ensembl; ENST00000452271.7; ENSP00000430242.1; ENSG00000189001.11. [Q6UWP8-1]
DR Ensembl; ENST00000518157.1; ENSP00000428771.1; ENSG00000189001.11. [Q6UWP8-2]
DR GeneID; 374897; -.
DR KEGG; hsa:374897; -.
DR MANE-Select; ENST00000452271.7; ENSP00000430242.1; NM_001166034.2; NP_001159506.1.
DR UCSC; uc002oad.3; human. [Q6UWP8-1]
DR CTD; 374897; -.
DR DisGeNET; 374897; -.
DR GeneCards; SBSN; -.
DR HGNC; HGNC:24950; SBSN.
DR HPA; ENSG00000189001; Tissue enhanced (esophagus, skin, vagina).
DR MIM; 609969; gene.
DR neXtProt; NX_Q6UWP8; -.
DR OpenTargets; ENSG00000189001; -.
DR PharmGKB; PA144596385; -.
DR VEuPathDB; HostDB:ENSG00000189001; -.
DR eggNOG; ENOG502SGZY; Eukaryota.
DR GeneTree; ENSGT00440000039148; -.
DR HOGENOM; CLU_033163_0_0_1; -.
DR InParanoid; Q6UWP8; -.
DR OMA; HHAFGQG; -.
DR OrthoDB; 1272498at2759; -.
DR PhylomeDB; Q6UWP8; -.
DR TreeFam; TF351767; -.
DR PathwayCommons; Q6UWP8; -.
DR SignaLink; Q6UWP8; -.
DR BioGRID-ORCS; 374897; 8 hits in 1066 CRISPR screens.
DR ChiTaRS; SBSN; human.
DR GenomeRNAi; 374897; -.
DR Pharos; Q6UWP8; Tbio.
DR PRO; PR:Q6UWP8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6UWP8; protein.
DR Bgee; ENSG00000189001; Expressed in upper arm skin and 102 other tissues.
DR ExpressionAtlas; Q6UWP8; baseline and differential.
DR Genevisible; Q6UWP8; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Secreted; Signal.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..590
FT /note="Suprabasin"
FT /id="PRO_0000317120"
FT REGION 182..213
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 242..266
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 297..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..570
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 125..467
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_044973"
FT VARIANT 419
FT /note="A -> G (in dbSNP:rs10775583)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_069027"
FT CONFLICT 298
FT /note="Q -> L (in Ref. 3; BX648076)"
FT /evidence="ECO:0000305"
FT CONFLICT 372
FT /note="V -> A (in Ref. 3; BX648076)"
FT /evidence="ECO:0000305"
FT CONFLICT 406
FT /note="Q -> R (in Ref. 3; BX648076)"
FT /evidence="ECO:0000305"
FT CONFLICT 533
FT /note="G -> W (in Ref. 2; BAF83994)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 590 AA; 60541 MW; CC3391C48A409DEA CRC64;
MHLARLVGSC SLLLLLGALS GWAASDDPIE KVIEGINRGL SNAEREVGKA LDGINSGITH
AGREVEKVFN GLSNMGSHTG KELDKGVQGL NHGMDKVAHE INHGIGQAGK EAEKLGHGVN
NAAGQVGKEA DKLIHHGVHH GANQAGSEAG KFGQGVDNAA GQAGNEAGRF GQGVHHAAGQ
AGNEAGRFGQ GVHHAAGQAG NEAGRFGQGA HHGLSEGWKE TEKFGQGIHH AAGQVGKEAE
KFGQGAHHAA GQAGNEAGRF GQGVHHGLSE GWKETEKFGQ GVHHTAGQVG KEAEKFGQGA
HHAAGQAGNE AGRFGQGAHH AAGQAGNEAG RFGQGVHHGL SEGWKETEKF GQGVHHAASQ
FGKETEKLGH GVHHGVNEAW KEAEKFGQGV HHAASQVGKE EDRVVQGLHH GVSQAGREAG
QFGHDIHHTA GQAGKEGDIA VHGVQPGVHE AGKEAGQFGQ GVHHTLEQAG KEADKAVQGF
HTGVHQAGKE AEKLGQGVNH AADQAGKEVE KLGQGAHHAA GQAGKELQNA HNGVNQASKE
ANQLLNGNHQ SGSSSHQGGA TTTPLASGAS VNTPFINLPA LWRSVANIMP
