ID SEM3E_HUMAN Reviewed; 775 AA. AC O15041; B4E1P1; Q75M94; Q75M97; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 01-JAN-1998, sequence version 1. DT 13-FEB-2019, entry version 170. DE RecName: Full=Semaphorin-3E; DE Flags: Precursor; GN Name=SEMA3E; Synonyms=KIAA0331, SEMAH; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; RX PubMed=9205841; DOI=10.1093/dnares/4.2.141; RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., RA Tanaka A., Kotani H., Nomura N., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. VII. RT The complete sequences of 100 new cDNA clones from brain which can RT code for large proteins in vitro."; RL DNA Res. 4:141-150(1997). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Trachea; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [4] RP VARIANTS PRO-208; CYS-619; LEU-703 AND VAL-717. RX PubMed=15235037; RA Lalani S.R., Safiullah A.M., Molinari L.M., Fernbach S.D., RA Martin D.M., Belmont J.W.; RT "SEMA3E mutation in a patient with CHARGE syndrome."; RL J. Med. Genet. 41:E94-E94(2004). CC -!- FUNCTION: Plays an important role in signaling via the cell CC surface receptor PLXND1. Mediates reorganization of the actin CC cytoskeleton, leading to the retraction of cell projections. CC Promotes focal adhesion disassembly and inhibits adhesion of CC endothelial cells to the extracellular matrix. Regulates CC angiogenesis, both during embryogenesis and after birth. Can down- CC regulate sprouting angiogenesis. Required for normal vascular CC patterning during embryogenesis. Plays an important role in CC ensuring the specificity of synapse formation (By similarity). CC {ECO:0000250}. CC -!- SUBUNIT: Interacts with PLXND1. {ECO:0000250}. CC -!- INTERACTION: CC Q9Y4D7:PLXND1; NbExp=2; IntAct=EBI-7283693, EBI-310731; CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=O15041-1; Sequence=Displayed; CC Name=2; CC IsoId=O15041-2; Sequence=VSP_046237; CC Note=No experimental confirmation available.; CC -!- SIMILARITY: Belongs to the semaphorin family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA20789.2; Type=Erroneous initiation; Evidence={ECO:0000305}; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AB002329; BAA20789.2; ALT_INIT; mRNA. DR EMBL; AK303925; BAG64853.1; -; mRNA. DR EMBL; AC004954; AAC69513.1; -; Genomic_DNA. DR EMBL; AC006204; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC079799; AAS07488.1; -; Genomic_DNA. DR EMBL; AC079987; AAS07487.1; -; Genomic_DNA. DR CCDS; CCDS34674.1; -. [O15041-1] DR CCDS; CCDS55121.1; -. [O15041-2] DR RefSeq; NP_001171600.1; NM_001178129.1. [O15041-2] DR RefSeq; NP_036563.1; NM_012431.2. [O15041-1] DR UniGene; Hs.440730; -. DR UniGene; Hs.528721; -. DR ProteinModelPortal; O15041; -. DR SMR; O15041; -. DR BioGrid; 115072; 1. DR IntAct; O15041; 1. DR MINT; O15041; -. DR STRING; 9606.ENSP00000303212; -. DR iPTMnet; O15041; -. DR PhosphoSitePlus; O15041; -. DR BioMuta; SEMA3E; -. DR jPOST; O15041; -. DR PaxDb; O15041; -. DR PeptideAtlas; O15041; -. DR PRIDE; O15041; -. DR ProteomicsDB; 48396; -. DR Ensembl; ENST00000307792; ENSP00000303212; ENSG00000170381. [O15041-1] DR Ensembl; ENST00000427262; ENSP00000405052; ENSG00000170381. [O15041-2] DR Ensembl; ENST00000643230; ENSP00000496491; ENSG00000170381. [O15041-1] DR GeneID; 9723; -. DR KEGG; hsa:9723; -. DR UCSC; uc003uhy.3; human. [O15041-1] DR CTD; 9723; -. DR DisGeNET; 9723; -. DR EuPathDB; HostDB:ENSG00000170381.12; -. DR GeneCards; SEMA3E; -. DR GeneReviews; SEMA3E; -. DR HGNC; HGNC:10727; SEMA3E. DR HPA; HPA029419; -. DR HPA; HPA063804; -. DR MalaCards; SEMA3E; -. DR MIM; 608166; gene. DR neXtProt; NX_O15041; -. DR OpenTargets; ENSG00000170381; -. DR Orphanet; 138; CHARGE syndrome. DR PharmGKB; PA35649; -. DR eggNOG; KOG3611; Eukaryota. DR eggNOG; ENOG410XQZC; LUCA. DR GeneTree; ENSGT00940000158437; -. DR HOGENOM; HOG000039964; -. DR HOVERGEN; HBG055071; -. DR InParanoid; O15041; -. DR KO; K06840; -. DR OMA; YWGRDAA; -. DR OrthoDB; 158418at2759; -. DR PhylomeDB; O15041; -. DR TreeFam; TF352628; -. DR Reactome; R-HSA-416700; Other semaphorin interactions. DR ChiTaRS; SEMA3E; human. DR GenomeRNAi; 9723; -. DR PRO; PR:O15041; -. DR Proteomes; UP000005640; Chromosome 7. DR Bgee; ENSG00000170381; Expressed in 144 organ(s), highest expression level in lung. DR ExpressionAtlas; O15041; baseline and differential. DR Genevisible; O15041; HS. DR GO; GO:0005576; C:extracellular region; TAS:Reactome. DR GO; GO:0005615; C:extracellular space; IBA:GO_Central. DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central. DR GO; GO:0045499; F:chemorepellent activity; IBA:GO_Central. DR GO; GO:0038191; F:neuropilin binding; IBA:GO_Central. DR GO; GO:0030215; F:semaphorin receptor binding; IBA:GO_Central. DR GO; GO:0001569; P:branching involved in blood vessel morphogenesis; ISS:UniProtKB. DR GO; GO:0050919; P:negative chemotaxis; IBA:GO_Central. DR GO; GO:0016525; P:negative regulation of angiogenesis; ISS:UniProtKB. DR GO; GO:0048843; P:negative regulation of axon extension involved in axon guidance; IBA:GO_Central. DR GO; GO:0001953; P:negative regulation of cell-matrix adhesion; ISS:UniProtKB. DR GO; GO:0001755; P:neural crest cell migration; IBA:GO_Central. DR GO; GO:0030335; P:positive regulation of cell migration; IBA:GO_Central. DR GO; GO:2000249; P:regulation of actin cytoskeleton reorganization; ISS:UniProtKB. DR GO; GO:0008360; P:regulation of cell shape; ISS:UniProtKB. DR GO; GO:0071526; P:semaphorin-plexin signaling pathway; ISS:UniProtKB. DR GO; GO:0002040; P:sprouting angiogenesis; ISS:UniProtKB. DR GO; GO:0050808; P:synapse organization; ISS:UniProtKB. DR Gene3D; 2.130.10.10; -; 1. DR Gene3D; 2.60.40.10; -; 1. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR013151; Immunoglobulin. DR InterPro; IPR016201; PSI. DR InterPro; IPR001627; Semap_dom. DR InterPro; IPR036352; Semap_dom_sf. DR InterPro; IPR027231; Semaphorin. DR InterPro; IPR015513; Semaphorin_3E. DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf. DR PANTHER; PTHR11036; PTHR11036; 1. DR PANTHER; PTHR11036:SF22; PTHR11036:SF22; 1. DR Pfam; PF00047; ig; 1. DR Pfam; PF01403; Sema; 1. DR SMART; SM00423; PSI; 1. DR SMART; SM00630; Sema; 1. DR SUPFAM; SSF101912; SSF101912; 1. DR SUPFAM; SSF48726; SSF48726; 1. DR PROSITE; PS50835; IG_LIKE; 1. DR PROSITE; PS51004; SEMA; 1. PE 1: Evidence at protein level; KW Alternative splicing; Angiogenesis; Complete proteome; KW Developmental protein; Differentiation; Disulfide bond; Glycoprotein; KW Immunoglobulin domain; Neurogenesis; Polymorphism; Reference proteome; KW Secreted; Signal. FT SIGNAL 1 25 {ECO:0000255}. FT CHAIN 26 775 Semaphorin-3E. FT /FTId=PRO_0000032317. FT DOMAIN 32 516 Sema. {ECO:0000255|PROSITE- FT ProRule:PRU00352}. FT DOMAIN 581 669 Ig-like C2-type. FT COMPBIAS 737 770 Arg/Lys-rich (basic). FT CARBOHYD 44 44 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 126 126 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 330 330 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 595 595 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 596 596 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 105 115 {ECO:0000250}. FT DISULFID 133 142 {ECO:0000250}. FT DISULFID 270 382 {ECO:0000250}. FT DISULFID 294 342 {ECO:0000250}. FT DISULFID 519 537 {ECO:0000250}. FT DISULFID 654 729 {ECO:0000250}. FT VAR_SEQ 1 60 Missing (in isoform 2). FT {ECO:0000303|PubMed:14702039}. FT /FTId=VSP_046237. FT VARIANT 208 208 R -> P (in dbSNP:rs61729612). FT {ECO:0000269|PubMed:15235037}. FT /FTId=VAR_080476. FT VARIANT 619 619 R -> C (in dbSNP:rs143631464). FT {ECO:0000269|PubMed:15235037}. FT /FTId=VAR_080477. FT VARIANT 703 703 S -> L (found in a patient with CHARGE FT syndrome; unknown pathological FT significance; dbSNP:rs121918341). FT {ECO:0000269|PubMed:15235037}. FT /FTId=VAR_080478. FT VARIANT 717 717 I -> V (in dbSNP:rs61729610). FT {ECO:0000269|PubMed:15235037}. FT /FTId=VAR_080479. SQ SEQUENCE 775 AA; 89228 MW; CD6079C1AE48F779 CRC64; MASAGHIITL LLWGYLLELW TGGHTADTTH PRLRLSHKEL LNLNRTSIFH SPFGFLDLHT MLLDEYQERL FVGGRDLVYS LSLERISDGY KEIHWPSTAL KMEECIMKGK DAGECANYVR VLHHYNRTHL LTCGTGAFDP VCAFIRVGYH LEDPLFHLES PRSERGRGRC PFDPSSSFIS TLIGSELFAG LYSDYWSRDA AIFRSMGRLA HIRTEHDDER LLKEPKFVGS YMIPDNEDRD DNKVYFFFTE KALEAENNAH AIYTRVGRLC VNDVGGQRIL VNKWSTFLKA RLVCSVPGMN GIDTYFDELE DVFLLPTRDH KNPVIFGLFN TTSNIFRGHA ICVYHMSSIR AAFNGPYAHK EGPEYHWSVY EGKVPYPRPG SCASKVNGGR YGTTKDYPDD AIRFARSHPL MYQAIKPAHK KPILVKTDGK YNLKQIAVDR VEAEDGQYDV LFIGTDNGIV LKVITIYNQE MESMEEVILE ELQIFKDPVP IISMEISSKR QQLYIGSASA VAQVRFHHCD MYGSACADCC LARDPYCAWD GISCSRYYPT GTHAKRRFRR QDVRHGNAAQ QCFGQQFVGD ALDKTEEHLA YGIENNSTLL ECTPRSLQAK VIWFVQKGRE TRKEEVKTDD RVVKMDLGLL FLRLHKSDAG TYFCQTVEHS FVHTVRKITL EVVEEEKVED MFNKDDEEDR HHRMPCPAQS SISQGAKPWY KEFLQLIGYS NFQRVEEYCE KVWCTDRKRK KLKMSPSKWK YANPQEKKLR SKPEHYRLPR HTLDS //