SHSA2_HUMAN
ID SHSA2_HUMAN Reviewed; 295 AA.
AC Q6UWI4; B9EH70; Q5W0G8;
DT 09-NOV-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Protein shisa-2 homolog;
DE AltName: Full=Transmembrane protein 46;
DE Flags: Precursor;
GN Name=SHISA2; Synonyms=C13orf13, TMEM46; ORFNames=UNQ9166/PRO28631;
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].
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 GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, and Testis;
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 [5]
RP PROTEIN SEQUENCE OF 34-47.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- FUNCTION: Plays an essential role in the maturation of presomitic
CC mesoderm cells by individual attenuation of both FGF and WNT signaling.
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q6UWI4; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-11343474, EBI-8624731;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Single-pass type I membrane protein {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the shisa family. {ECO:0000305}.
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DR EMBL; AY358775; AAQ89135.1; -; mRNA.
DR EMBL; AL139004; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08378.1; -; Genomic_DNA.
DR EMBL; BC132898; AAI32899.1; -; mRNA.
DR EMBL; BC137092; AAI37093.1; -; mRNA.
DR CCDS; CCDS31951.1; -.
DR RefSeq; NP_001007539.1; NM_001007538.1.
DR AlphaFoldDB; Q6UWI4; -.
DR SMR; Q6UWI4; -.
DR BioGRID; 132503; 19.
DR IntAct; Q6UWI4; 8.
DR MINT; Q6UWI4; -.
DR STRING; 9606.ENSP00000313079; -.
DR iPTMnet; Q6UWI4; -.
DR PhosphoSitePlus; Q6UWI4; -.
DR SwissPalm; Q6UWI4; -.
DR BioMuta; SHISA2; -.
DR DMDM; 55583902; -.
DR EPD; Q6UWI4; -.
DR MassIVE; Q6UWI4; -.
DR PaxDb; Q6UWI4; -.
DR PeptideAtlas; Q6UWI4; -.
DR PRIDE; Q6UWI4; -.
DR ProteomicsDB; 67483; -.
DR Antibodypedia; 53427; 57 antibodies from 10 providers.
DR DNASU; 387914; -.
DR Ensembl; ENST00000319420.4; ENSP00000313079.3; ENSG00000180730.5.
DR GeneID; 387914; -.
DR KEGG; hsa:387914; -.
DR MANE-Select; ENST00000319420.4; ENSP00000313079.3; NM_001007538.2; NP_001007539.1.
DR UCSC; uc001uqm.2; human.
DR CTD; 387914; -.
DR DisGeNET; 387914; -.
DR GeneCards; SHISA2; -.
DR HGNC; HGNC:20366; SHISA2.
DR HPA; ENSG00000180730; Tissue enhanced (breast, skeletal muscle, thyroid gland).
DR MIM; 617324; gene.
DR neXtProt; NX_Q6UWI4; -.
DR OpenTargets; ENSG00000180730; -.
DR PharmGKB; PA162403292; -.
DR VEuPathDB; HostDB:ENSG00000180730; -.
DR eggNOG; ENOG502QWT7; Eukaryota.
DR GeneTree; ENSGT00940000157443; -.
DR HOGENOM; CLU_085916_0_0_1; -.
DR InParanoid; Q6UWI4; -.
DR OMA; YAHPVSP; -.
DR OrthoDB; 1325567at2759; -.
DR PhylomeDB; Q6UWI4; -.
DR TreeFam; TF330800; -.
DR PathwayCommons; Q6UWI4; -.
DR SignaLink; Q6UWI4; -.
DR BioGRID-ORCS; 387914; 9 hits in 1071 CRISPR screens.
DR GenomeRNAi; 387914; -.
DR Pharos; Q6UWI4; Tbio.
DR PRO; PR:Q6UWI4; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q6UWI4; protein.
DR Bgee; ENSG00000180730; Expressed in ventricular zone and 125 other tissues.
DR Genevisible; Q6UWI4; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0040037; P:negative regulation of fibroblast growth factor receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0030178; P:negative regulation of Wnt signaling pathway; IBA:GO_Central.
DR InterPro; IPR026910; Shisa.
DR PANTHER; PTHR31395; PTHR31395; 1.
DR Pfam; PF13908; Shisa; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Direct protein sequencing; Endoplasmic reticulum;
KW Membrane; Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..33
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 34..295
FT /note="Protein shisa-2 homolog"
FT /id="PRO_0000022615"
FT TOPO_DOM 34..110
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 111..131
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 132..295
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 87..108
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 168..205
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 295 AA; 31375 MW; 180416B9D6490803 CRC64;
MWGARRSSVS SSWNAASLLQ LLLAALLAAG ARASGEYCHG WLDAQGVWRI GFQCPERFDG
GDATICCGSC ALRYCCSSAE ARLDQGGCDN DRQQGAGEPG RADKDGPDGS AVPIYVPFLI
VGSVFVAFII LGSLVAACCC RCLRPKQDPQ QSRAPGGNRL METIPMIPSA STSRGSSSRQ
SSTAASSSSS ANSGARAPPT RSQTNCCLPE GTMNNVYVNM PTNFSVLNCQ QATQIVPHQG
QYLHPPYVGY TVQHDSVPMT AVPPFMDGLQ PGYRQIQSPF PHTNSEQKMY PAVTV
