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Database: UniProt
Entry: Q9H195
LinkDB: Q9H195
Original site: Q9H195 
ID   MUC3B_HUMAN             Reviewed;        1237 AA.
AC   Q9H195; Q6W762; Q7LDU5; Q9GZZ2; Q9UN95;
DT   28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT   29-MAY-2013, sequence version 2.
DT   16-JAN-2019, entry version 108.
DE   RecName: Full=Mucin-3B {ECO:0000305};
DE            Short=MUC-3B {ECO:0000305};
DE   AltName: Full=Intestinal mucin-3B {ECO:0000305|PubMed:9334251};
DE   Flags: Precursor; Fragments;
GN   Name=MUC3B {ECO:0000312|HGNC:HGNC:13384};
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] OF 1-336.
RX   PubMed=12958310; DOI=10.1074/jbc.M305769200;
RA   Gum J.R. Jr., Hicks J.W., Crawley S.C., Dahl C.M., Yang S.C.,
RA   Roberton A.M., Kim Y.S.;
RT   "Initiation of transcription of the MUC3A human intestinal mucin from
RT   a TATA-less promoter and comparison with the MUC3B amino terminus.";
RL   J. Biol. Chem. 278:49600-49609(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 337-1237, AND TISSUE SPECIFICITY.
RX   PubMed=10973822; DOI=10.1006/bbrc.2000.3406;
RA   Pratt W.S., Crawley S., Hicks J., Ho J., Nash M., Kim Y.S., Gum J.R.,
RA   Swallow D.M.;
RT   "Multiple transcripts of MUC3: evidence for two genes, MUC3A and
RT   MUC3B.";
RL   Biochem. Biophys. Res. Commun. 275:916-923(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 360-1237, AND TISSUE
RP   SPECIFICITY.
RC   TISSUE=Small intestine;
RX   PubMed=11289722; DOI=10.1007/s100380170118;
RA   Kyo K., Muto T., Nagawa H., Lathrop G.M., Nakamura Y.;
RT   "Associations of distinct variants of the intestinal mucin gene MUC3A
RT   with ulcerative colitis and Crohn's disease.";
RL   J. Hum. Genet. 46:5-20(2001).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 859-881.
RC   TISSUE=Intestine;
RX   PubMed=9334251; DOI=10.1074/jbc.272.42.26678;
RA   Gum J.R. Jr., Ho J.J.L., Pratt W.S., Hicks J.W., Hill A.S.,
RA   Vinall L.E., Roberton A.M., Swallow D.M., Kim Y.S.;
RT   "MUC3 human intestinal mucin. Analysis of gene structure, the carboxyl
RT   terminus, and a novel upstream repetitive region.";
RL   J. Biol. Chem. 272:26678-26686(1997).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 872-1237, AND VARIANTS VAL-1034 AND
RP   TYR-1213.
RC   TISSUE=Colon mucosa;
RX   PubMed=10405327; DOI=10.1006/bbrc.1999.1001;
RA   Williams S.J., Munster D.J., Quin R.J., Gotley D.C., McGuckin M.A.;
RT   "The MUC3 gene encodes a transmembrane mucin and is alternatively
RT   spliced.";
RL   Biochem. Biophys. Res. Commun. 261:83-89(1999).
CC   -!- FUNCTION: Major glycoprotein component of a variety of mucus gels.
CC       Thought to provide a protective, lubricating barrier against
CC       particles and infectious agents at mucosal surfaces (By
CC       similarity). {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC       protein {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Fetal and adult small intestine and fetal and
CC       adult colon. {ECO:0000269|PubMed:10973822,
CC       ECO:0000269|PubMed:11289722}.
CC   -!- PTM: Highly O-glycosylated and probably also N-glycosylated.
CC       {ECO:0000250}.
CC   -!- CAUTION: This gene is not currently present in the reference
CC       genome assembly (GRCh38/hg38) and is probably the result of a gene
CC       duplication of MUC3A. {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Mucin database;
CC       URL="http://www.medkem.gu.se/mucinbiology/databases/";
DR   EMBL; AY307931; AAQ73825.1; -; mRNA.
DR   EMBL; AJ291390; CAC19572.1; -; Genomic_DNA.
DR   EMBL; AB038781; BAB12115.1; -; Genomic_DNA.
DR   EMBL; AB038783; BAB12117.1; -; mRNA.
DR   EMBL; AF007195; AAB84382.1; -; Genomic_DNA.
DR   EMBL; AF143371; AAD45882.1; -; mRNA.
DR   UniGene; Hs.703577; -.
DR   UniGene; Hs.723567; -.
DR   UniGene; Hs.744422; -.
DR   UniGene; Hs.744530; -.
DR   SMR; Q9H195; -.
DR   iPTMnet; Q9H195; -.
DR   PhosphoSitePlus; Q9H195; -.
DR   BioMuta; HGNC:13384; -.
DR   DMDM; 510120772; -.
DR   jPOST; Q9H195; -.
DR   PeptideAtlas; Q9H195; -.
DR   PRIDE; Q9H195; -.
DR   ProteomicsDB; 80381; -.
DR   DisGeNET; 57876; -.
DR   GeneCards; MUC3B; -.
DR   HGNC; HGNC:13384; MUC3B.
DR   HPA; HPA010871; -.
DR   MIM; 605633; gene.
DR   neXtProt; NX_Q9H195; -.
DR   HOVERGEN; HBG099390; -.
DR   InParanoid; Q9H195; -.
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   Proteomes; UP000005640; Unplaced.
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:0016266; P:O-glycan processing; TAS:Reactome.
DR   GO; GO:0002223; P:stimulatory C-type lectin receptor signaling pathway; TAS:Reactome.
DR   Gene3D; 3.30.70.960; -; 1.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR000082; SEA_dom.
DR   InterPro; IPR036364; SEA_dom_sf.
DR   Pfam; PF01390; SEA; 1.
DR   SMART; SM00181; EGF; 2.
DR   SMART; SM00200; SEA; 1.
DR   SUPFAM; SSF82671; SSF82671; 1.
DR   PROSITE; PS00022; EGF_1; 2.
DR   PROSITE; PS01186; EGF_2; 1.
DR   PROSITE; PS50026; EGF_3; 1.
DR   PROSITE; PS50024; SEA; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; Disulfide bond; EGF-like domain; Glycoprotein;
KW   Membrane; Polymorphism; Reference proteome; Signal; Transmembrane;
KW   Transmembrane helix.
FT   SIGNAL        1     21       {ECO:0000255}.
FT   CHAIN        22   1237       Mucin-3B.
FT                                /FTId=PRO_0000262551.
FT   TRANSMEM   1141   1161       Helical. {ECO:0000255}.
FT   DOMAIN      890    923       EGF-like. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      932   1057       SEA. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00188}.
FT   COMPBIAS     77    336       Thr-rich.
FT   COMPBIAS    338    661       Ser-rich.
FT   COMPBIAS    345    871       Thr-rich.
FT   COMPBIAS   1151   1159       Poly-Leu.
FT   DISULFID    894    900       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   DISULFID    913    922       {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   VARIANT    1034   1034       A -> V. {ECO:0000269|PubMed:10405327}.
FT                                /FTId=VAR_029507.
FT   VARIANT    1213   1213       H -> Y. {ECO:0000269|PubMed:10405327}.
FT                                /FTId=VAR_029508.
FT   CONFLICT    362    362       H -> Y (in Ref. 3; BAB12115/BAB12117).
FT                                {ECO:0000305}.
FT   CONFLICT    835    835       Q -> E (in Ref. 3; BAB12115/BAB12117).
FT                                {ECO:0000305}.
FT   CONFLICT    850    850       C -> R (in Ref. 3; BAB12115/BAB12117).
FT                                {ECO:0000305}.
FT   CONFLICT   1042   1042       A -> T (in Ref. 3; BAB12115/BAB12117 and
FT                                5; AAD45882). {ECO:0000305}.
FT   CONFLICT   1063   1063       E -> A (in Ref. 5; AAD45882).
FT                                {ECO:0000305}.
FT   CONFLICT   1097   1097       L -> V (in Ref. 3; BAB12115/BAB12117 and
FT                                5; AAD45882). {ECO:0000305}.
FT   CONFLICT   1116   1116       A -> T (in Ref. 5; AAD45882).
FT                                {ECO:0000305}.
FT   CONFLICT   1135   1135       T -> A (in Ref. 3; BAB12115/BAB12117 and
FT                                5; AAD45882). {ECO:0000305}.
FT   CONFLICT   1167   1167       E -> G (in Ref. 3; BAB12115/BAB12117 and
FT                                5; AAD45882). {ECO:0000305}.
FT   CONFLICT   1171   1171       R -> G (in Ref. 3; BAB12115/BAB12117 and
FT                                5; AAD45882). {ECO:0000305}.
FT   NON_CONS    336    337       {ECO:0000305}.
SQ   SEQUENCE   1237 AA;  131402 MW;  964AEE628DDCE01D CRC64;
     MQLLGLLSIL WMLKSSPGAT GTLSTATSTS HVTFPRAEAT RTALSNSPHS RYLAEWPQGV
     PQLASPAPGH RENAPMTLTT SPHDTLISET LLSSLVSSNT STTPTSKFAF KVETTPPTVL
     VYSATTECVY PTSFIITISH STSICVTTTQ VTFTSSYTPT PVTQKPVTTV TRTYPMTTTE
     KGTSAMISSP STTTARETPI VTVTPSSSVS ATDTTFHTTI SSTTRTTERT PLPTGSIHTT
     MSPTPVFTTL KTAVTSTSPI TSTITSTNTV TSMTTTTSRP TATNTLSSLT SSILSSTPAP
     NTEVITSHTT TTTPPSTLVT TLPTAIARST PTSETTPSFM SSIITTETTS HSTPSFSSST
     IHSTVSSSTT AITSPFTTAE TGVTSTPSSP SSLSTDIPTT SLRTLTPLSL STSTSLTTTT
     DLPSIPTDIS SLPTPIHIIS SSPSIQSTET SSLVGTTSPT MSTVRATLRS TENTPISSFS
     TSIVVTPETP TTQAPPVLMS ATGTQTSPVP TTVTFGSMDS STSTLHTLTP STALSKIMST
     SQFPIPSTHS STLQTTPSIP SLQTSLTSTS EFTTESFTRG STSTNAILTS FSTIIWSSTP
     TIIMSSSPSS ASITPVFATT IHSVPSSPYI FSTENVGSAS ITAFPSLSSS STTSTSPTSS
     SLTTALTEIT PFSYISLPST TPCPGTITIT IVPASPTDPC VEMDPSTEAT SPPTTPLTVF
     PFTTEMVTCP SSISMQTTLA THMDTSSMTP ESESSIIPNA SSSTGTGTVP TNTVFTSTRL
     PTSETWLSNN SVIPTPLPGV STIPLTMKPS SSLPTILRTS SKSTHPSPPT ARTSQTSVAT
     TQTPTTLTTC RTTPITSWMT TQSTLTTTAG TCDNGGTWEQ GQCACLPGFS GDRCQLQTRC
     QNGGQWDGLK CQCPSTFYGS SCEFAVEQVD LDVVETEVGM EVSVDQQFSP DLNDNTSQAY
     RDFNKTFWNQ MQKIFADMQG FTFKGVEILS LRNGSIVVDY LVLLEMPFSP QLESEYEQVK
     TTLKEGLQNA SQDANSCQDS QALCFKPDSI KVNNNSKTEL TPEAICRRAA PTGYEEFYFP
     LVEATRLRCV TKCTSGLDNA IDCHQGQCVL ETSGPACRCY STDTHWFSGP RCEVTVHWRA
     LVGGLTAGAA LLVLLLLALG VRAVRSEWWG RQRRGRSWDQ DRKWFETWDE EVVGTFSNWG
     FEDDGTDKDT NFHVALENVD TTMKVHIKRP EMTSSSV
//
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