MUCEN_HUMAN
ID MUCEN_HUMAN Reviewed; 261 AA.
AC Q9ULC0; A8K716; B4E347; Q8NEY5; Q8WWE7; Q9NRM8;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Endomucin;
DE AltName: Full=Endomucin-2;
DE AltName: Full=Gastric cancer antigen Ga34;
DE AltName: Full=Mucin-14;
DE Short=MUC-14;
DE Flags: Precursor;
GN Name=EMCN; Synonyms=EMCN2, MUC14;
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] (ISOFORM 1), GLYCOSYLATION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Vascular endothelial cell;
RX PubMed=11418125; DOI=10.1016/s0014-5793(01)02520-0;
RA Kinoshita M., Nakamura T., Ihara M., Haraguchi T., Hiraoka Y., Tashiro K.,
RA Noda M.;
RT "Identification of human endomucin-1 and -2 as membrane-bound O-
RT sialoglycoproteins with anti-adhesive activity.";
RL FEBS Lett. 499:121-126(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Umbilical vein endothelial cell;
RX PubMed=12485444; DOI=10.1046/j.1523-1747.2002.19647.x;
RA Kuhn A., Brachtendorf G., Kurth F., Sonntag M., Samulowitz U., Metze D.,
RA Vestweber D.;
RT "Expression of endomucin, a novel endothelial sialomucin, in normal and
RT diseased human skin.";
RL J. Invest. Dermatol. 119:1388-1393(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Uterus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lung;
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 [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 42-261 (ISOFORM 1).
RC TISSUE=Gastric adenocarcinoma;
RX PubMed=14722670; DOI=10.1007/s00262-003-0471-y;
RA Li G., Miles A., Line A., Rees R.C.;
RT "Identification of tumour antigens by serological analysis of cDNA
RT expression cloning.";
RL Cancer Immunol. Immunother. 53:139-143(2004).
CC -!- FUNCTION: Endothelial sialomucin, also called endomucin or mucin-like
CC sialoglycoprotein, which interferes with the assembly of focal adhesion
CC complexes and inhibits interaction between cells and the extracellular
CC matrix.
CC -!- INTERACTION:
CC Q9ULC0-2; Q96EQ0: SGTB; NbExp=5; IntAct=EBI-12164849, EBI-744081;
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane; Single-pass type I
CC membrane protein. Membrane; Single-pass type I membrane protein.
CC Note=Consistently localized to the plasma membrane and less abundantly
CC to Golgi-like perinuclear stacks.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9ULC0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9ULC0-2; Sequence=VSP_010826;
CC Name=3;
CC IsoId=Q9ULC0-3; Sequence=VSP_043264;
CC -!- TISSUE SPECIFICITY: Expressed in heart, kidney and lung.
CC {ECO:0000269|PubMed:11418125, ECO:0000269|PubMed:12485444}.
CC -!- PTM: Highly O-glycosylated. Sialic acid-rich glycoprotein.
CC {ECO:0000269|PubMed:11418125}.
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DR EMBL; AB034695; BAA86228.1; -; mRNA.
DR EMBL; AF205940; AAF76295.1; -; mRNA.
DR EMBL; AK291831; BAF84520.1; -; mRNA.
DR EMBL; AK304568; BAG65359.1; -; mRNA.
DR EMBL; AC034150; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097459; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC115623; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC116174; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC138606; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001964; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX06122.1; -; Genomic_DNA.
DR EMBL; BC017781; AAH17781.1; -; mRNA.
DR EMBL; AY039241; AAK68660.1; -; mRNA.
DR CCDS; CCDS3655.1; -. [Q9ULC0-1]
DR CCDS; CCDS54782.1; -. [Q9ULC0-3]
DR RefSeq; NP_001153166.1; NM_001159694.1. [Q9ULC0-3]
DR RefSeq; NP_057326.2; NM_016242.3. [Q9ULC0-1]
DR RefSeq; XP_011530326.1; XM_011532024.2. [Q9ULC0-1]
DR AlphaFoldDB; Q9ULC0; -.
DR BioGRID; 119689; 10.
DR IntAct; Q9ULC0; 1.
DR STRING; 9606.ENSP00000296420; -.
DR GlyGen; Q9ULC0; 18 sites, 7 O-linked glycans (12 sites).
DR iPTMnet; Q9ULC0; -.
DR PhosphoSitePlus; Q9ULC0; -.
DR BioMuta; EMCN; -.
DR DMDM; 50400693; -.
DR MassIVE; Q9ULC0; -.
DR PaxDb; Q9ULC0; -.
DR PeptideAtlas; Q9ULC0; -.
DR PRIDE; Q9ULC0; -.
DR ProteomicsDB; 84972; -. [Q9ULC0-1]
DR ProteomicsDB; 84973; -. [Q9ULC0-2]
DR ProteomicsDB; 84974; -. [Q9ULC0-3]
DR TopDownProteomics; Q9ULC0-2; -. [Q9ULC0-2]
DR Antibodypedia; 989; 218 antibodies from 32 providers.
DR DNASU; 51705; -.
DR Ensembl; ENST00000296420.9; ENSP00000296420.4; ENSG00000164035.10. [Q9ULC0-1]
DR Ensembl; ENST00000305864.7; ENSP00000304780.3; ENSG00000164035.10. [Q9ULC0-2]
DR Ensembl; ENST00000511970.5; ENSP00000422432.1; ENSG00000164035.10. [Q9ULC0-3]
DR GeneID; 51705; -.
DR KEGG; hsa:51705; -.
DR MANE-Select; ENST00000296420.9; ENSP00000296420.4; NM_016242.4; NP_057326.2.
DR UCSC; uc003hvr.3; human. [Q9ULC0-1]
DR CTD; 51705; -.
DR DisGeNET; 51705; -.
DR GeneCards; EMCN; -.
DR HGNC; HGNC:16041; EMCN.
DR HPA; ENSG00000164035; Low tissue specificity.
DR MIM; 608350; gene.
DR neXtProt; NX_Q9ULC0; -.
DR OpenTargets; ENSG00000164035; -.
DR PharmGKB; PA144596436; -.
DR VEuPathDB; HostDB:ENSG00000164035; -.
DR eggNOG; ENOG502S6VA; Eukaryota.
DR GeneTree; ENSGT00390000012139; -.
DR HOGENOM; CLU_092835_0_0_1; -.
DR InParanoid; Q9ULC0; -.
DR OMA; XPQSDKE; -.
DR PhylomeDB; Q9ULC0; -.
DR TreeFam; TF337783; -.
DR PathwayCommons; Q9ULC0; -.
DR SignaLink; Q9ULC0; -.
DR BioGRID-ORCS; 51705; 10 hits in 1061 CRISPR screens.
DR ChiTaRS; EMCN; human.
DR GeneWiki; EMCN; -.
DR GenomeRNAi; 51705; -.
DR Pharos; Q9ULC0; Tbio.
DR PRO; PR:Q9ULC0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9ULC0; protein.
DR Bgee; ENSG00000164035; Expressed in calcaneal tendon and 168 other tissues.
DR ExpressionAtlas; Q9ULC0; baseline and differential.
DR Genevisible; Q9ULC0; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0061484; P:hematopoietic stem cell homeostasis; IEA:Ensembl.
DR InterPro; IPR010740; Endomucin.
DR PANTHER; PTHR15869; PTHR15869; 1.
DR Pfam; PF07010; Endomucin; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Glycoprotein; Membrane;
KW Phosphoprotein; Reference proteome; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..261
FT /note="Endomucin"
FT /id="PRO_0000019290"
FT TOPO_DOM 19..190
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 191..211
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 212..261
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 118..183
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 237
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9R0H2"
FT CARBOHYD 19
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 28
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 98
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 104
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 164
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 178
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 126..139
FT /note="TETQSSIKTTEIPG -> S (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043264"
FT VAR_SEQ 140..222
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_010826"
FT CONFLICT 172
FT /note="G -> D (in Ref. 1; BAA86228)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 261 AA; 27452 MW; 6C88C34F7A81F7D2 CRC64;
MELLQVTILF LLPSICSSNS TGVLEAANNS LVVTTTKPSI TTPNTESLQK NVVTPTTGTT
PKGTITNELL KMSLMSTATF LTSKDEGLKA TTTDVRKNDS IISNVTVTSV TLPNAVSTLQ
SSKPKTETQS SIKTTEIPGS VLQPDASPSK TGTLTSIPVT IPENTSQSQV IGTEGGKNAS
TSATSRSYSS IILPVVIALI VITLSVFVLV GLYRMCWKAD PGTPENGNDQ PQSDKESVKL
LTVKTISHES GEHSAQGKTK N
