GenomeNet

Database: UniProt
Entry: Q9H3R2
LinkDB: Q9H3R2
Original site: Q9H3R2 
ID   MUC13_HUMAN             Reviewed;         512 AA.
AC   Q9H3R2; Q6UWD9; Q9NXT5;
DT   19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT   14-MAY-2014, sequence version 3.
DT   10-APR-2019, entry version 158.
DE   RecName: Full=Mucin-13;
DE            Short=MUC-13;
DE   AltName: Full=Down-regulated in colon cancer 1;
DE   Flags: Precursor;
GN   Name=MUC13; Synonyms=DRCC1, RECC; ORFNames=UNQ6194/PRO20221;
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 [MRNA].
RA   Masayoshi I., Furukawa Y., Akashi H., Han H., Nakajima Y., Sugano S.,
RA   Ogawa M., Nakamura Y.;
RT   "Isolation and characterization of a novel human gene DRCC1 encoding a
RT   mucin-like glycoprotein, homologous to murine cell surface antigen
RT   114/A10, and its reduced expression in colorectal cancers.";
RL   Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], INTRACELLULAR CLEAVAGE, SUBUNIT,
RP   SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND GLYCOSYLATION.
RX   PubMed=11278439; DOI=10.1074/jbc.M008850200;
RA   Williams S.J., Wreschner D.H., Tran M., Eyre H.J., Sutherland G.R.,
RA   McGuckin M.A.;
RT   "Muc13, a novel human cell surface mucin expressed by epithelial and
RT   hemopoietic cells.";
RL   J. Biol. Chem. 276:18327-18336(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-503.
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.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
RA   Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
RA   Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
RA   Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
RA   Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
RA   Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
RA   Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
RA   Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
RA   Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
RA   Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
RA   Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
RA   Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
RA   Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
RA   Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
RA   Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
RA   Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-512.
RC   TISSUE=Colon;
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).
CC   -!- FUNCTION: Epithelial and hemopoietic transmembrane mucin that may
CC       play a role in cell signaling.
CC   -!- SUBUNIT: Homodimer of beta subunits.
CC       {ECO:0000269|PubMed:11278439}.
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11278439};
CC       Single-pass type I membrane protein {ECO:0000269|PubMed:11278439}.
CC       Apical cell membrane {ECO:0000269|PubMed:11278439}. Secreted
CC       {ECO:0000269|PubMed:11278439}. Note=Also exists as a soluble form.
CC   -!- TISSUE SPECIFICITY: Highly expressed in epithelial tissues,
CC       particularly those of the gastrointestinal and respiratory tracts,
CC       such as large intestine and trachea, followed by kidney, small
CC       intestine, appendix and stomach. {ECO:0000269|PubMed:11278439}.
CC   -!- PTM: Cleaved into two subunits, alpha and beta, probably between
CC       the first EGF domain and the SEA domain. Beta subunit contains the
CC       cytoplasmic tail and alpha subunit the extracellular tail. The
CC       homooligomerization into dimers is dependent on intrachain
CC       disulfide bonds.
CC   -!- PTM: Highly N-glycosylated. {ECO:0000269|PubMed:11278439}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA90925.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=Mucin database;
CC       URL="http://www.medkem.gu.se/mucinbiology/databases/";
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/MUC13ID41454ch3q21.html";
DR   EMBL; AB035807; BAB19651.1; -; mRNA.
DR   EMBL; AF286113; AAK56861.1; -; mRNA.
DR   EMBL; AY358831; AAQ89190.1; -; mRNA.
DR   EMBL; AC026342; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK000070; BAA90925.1; ALT_INIT; mRNA.
DR   CCDS; CCDS33839.2; -.
DR   RefSeq; NP_149038.3; NM_033049.3.
DR   UniGene; Hs.5940; -.
DR   ProteinModelPortal; Q9H3R2; -.
DR   BioGrid; 121177; 17.
DR   IntAct; Q9H3R2; 15.
DR   STRING; 9606.ENSP00000485028; -.
DR   iPTMnet; Q9H3R2; -.
DR   PhosphoSitePlus; Q9H3R2; -.
DR   BioMuta; MUC13; -.
DR   DMDM; 296438300; -.
DR   jPOST; Q9H3R2; -.
DR   MaxQB; Q9H3R2; -.
DR   PaxDb; Q9H3R2; -.
DR   PeptideAtlas; Q9H3R2; -.
DR   PRIDE; Q9H3R2; -.
DR   ProteomicsDB; 80744; -.
DR   Ensembl; ENST00000616727; ENSP00000485028; ENSG00000173702.
DR   GeneID; 56667; -.
DR   KEGG; hsa:56667; -.
DR   UCSC; uc032sai.1; human.
DR   CTD; 56667; -.
DR   DisGeNET; 56667; -.
DR   EuPathDB; HostDB:ENSG00000173702.7; -.
DR   GeneCards; MUC13; -.
DR   HGNC; HGNC:7511; MUC13.
DR   HPA; HPA045163; -.
DR   MIM; 612181; gene.
DR   neXtProt; NX_Q9H3R2; -.
DR   OpenTargets; ENSG00000173702; -.
DR   PharmGKB; PA31312; -.
DR   eggNOG; ENOG410IXVD; Eukaryota.
DR   eggNOG; ENOG410XXX6; LUCA.
DR   GeneTree; ENSGT00940000154419; -.
DR   HOGENOM; HOG000168414; -.
DR   HOVERGEN; HBG052532; -.
DR   InParanoid; Q9H3R2; -.
DR   KO; K17298; -.
DR   OMA; RCDYYGC; -.
DR   OrthoDB; 1023611at2759; -.
DR   TreeFam; TF335941; -.
DR   Reactome; R-HSA-5083625; Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
DR   Reactome; R-HSA-5083632; Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
DR   Reactome; R-HSA-5083636; Defective GALNT12 causes colorectal cancer 1 (CRCS1).
DR   Reactome; R-HSA-5621480; Dectin-2 family.
DR   Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR   Reactome; R-HSA-977068; Termination of O-glycan biosynthesis.
DR   ChiTaRS; MUC13; human.
DR   GenomeRNAi; 56667; -.
DR   PRO; PR:Q9H3R2; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   Bgee; ENSG00000173702; Expressed in 138 organ(s), highest expression level in jejunal mucosa.
DR   ExpressionAtlas; Q9H3R2; baseline and differential.
DR   Genevisible; Q9H3R2; HS.
DR   GO; GO:0016324; C:apical plasma membrane; IDA:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IMP:UniProtKB.
DR   GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
DR   GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR   GO; GO:0030277; P:maintenance of gastrointestinal epithelium; IMP:UniProtKB.
DR   GO; GO:0016266; P:O-glycan processing; TAS:Reactome.
DR   GO; GO:0002223; P:stimulatory C-type lectin receptor signaling pathway; TAS:Reactome.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR000082; SEA_dom.
DR   Pfam; PF01390; SEA; 1.
DR   SMART; SM00181; EGF; 3.
DR   SUPFAM; SSF57184; SSF57184; 1.
DR   PROSITE; PS01186; EGF_2; 2.
DR   PROSITE; PS50026; EGF_3; 1.
DR   PROSITE; PS50024; SEA; 1.
PE   1: Evidence at protein level;
KW   Cell membrane; Complete proteome; Disulfide bond; EGF-like domain;
KW   Glycoprotein; Membrane; Polymorphism; Reference proteome; Repeat;
KW   Secreted; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL        1     18       {ECO:0000255}.
FT   CHAIN        19    512       Mucin-13.
FT                                /FTId=PRO_0000019284.
FT   TOPO_DOM     19    421       Extracellular. {ECO:0000255}.
FT   TRANSMEM    422    442       Helical. {ECO:0000255}.
FT   TOPO_DOM    443    512       Cytoplasmic. {ECO:0000255}.
FT   DOMAIN      173    211       EGF-like 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      212    336       SEA. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00188}.
FT   DOMAIN      322    361       EGF-like 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      363    404       EGF-like 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   COMPBIAS     29    171       Thr-rich.
FT   CARBOHYD    151    151       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    169    169       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    193    193       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    206    206       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    284    284       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    332    332       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    177    188       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    182    197       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    199    210       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    326    338       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    331    344       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    346    360       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    367    378       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    371    389       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    391    403       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   VARIANT      18     18       A -> V (in dbSNP:rs4679394).
FT                                /FTId=VAR_056589.
FT   VARIANT     100    100       I -> T (in dbSNP:rs4679392).
FT                                /FTId=VAR_063124.
FT   VARIANT     364    364       S -> G (in dbSNP:rs16836185).
FT                                /FTId=VAR_056590.
FT   VARIANT     503    503       R -> S (in dbSNP:rs1127233).
FT                                {ECO:0000269|PubMed:12975309}.
FT                                /FTId=VAR_056591.
FT   CONFLICT    196    196       F -> I (in Ref. 5; BAA90925).
FT                                {ECO:0000305}.
SQ   SEQUENCE   512 AA;  54604 MW;  17D34E17B1637581 CRC64;
     MKAIIHLTLL ALLSVNTATN QGNSADAVTT TETATSGPTV AAADTTETNF PETASTTANT
     PSFPTATSPA PPIISTHSSS TIPTPAPPII STHSSSTIPI PTAADSESTT NVNSLATSDI
     ITASSPNDGL ITMVPSETQS NNEMSPTTED NQSSGPPTGT ALLETSTLNS TGPSNPCQDD
     PCADNSLCVK LHNTSFCLCL EGYYYNSSTC KKGKVFPGKI SVTVSETFDP EEKHSMAYQD
     LHSEITSLFK DVFGTSVYGQ TVILTVSTSL SPRSEMRADD KFVNVTIVTI LAETTSDNEK
     TVTEKINKAI RSSSSNFLNY DLTLRCDYYG CNQTADDCLN GLACDCKSDL QRPNPQSPFC
     VASSLKCPDA CNAQHKQCLI KKSGGAPECA CVPGYQEDAN GNCQKCAFGY SGLDCKDKFQ
     LILTIVGTIA GIVILSMIIA LIVTARSNNK TKHIEEENLI DEDFQNLKLR STGFTNLGAE
     GSVFPKVRIT ASRDSQMQNP YSRHSSMPRP DY
//
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