MUC3B_HUMAN
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 25-MAY-2022, entry version 120.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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 a
RT 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 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 with
RT 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., Vinall L.E.,
RA 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 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 particles
CC and infectious agents at mucosal surfaces (By similarity).
CC {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 adult
CC colon. {ECO:0000269|PubMed:10973822, 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 genome
CC assembly (GRCh38/hg38) and is probably the result of a gene duplication
CC of MUC3A. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Mucin database;
CC URL="http://www.medkem.gu.se/mucinbiology/databases/";
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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 AlphaFoldDB; Q9H195; -.
DR MEROPS; S71.002; -.
DR iPTMnet; Q9H195; -.
DR PhosphoSitePlus; Q9H195; -.
DR BioMuta; HGNC:13384; -.
DR DMDM; 510120772; -.
DR MassIVE; Q9H195; -.
DR PeptideAtlas; Q9H195; -.
DR PRIDE; Q9H195; -.
DR ProteomicsDB; 80381; -.
DR GeneCards; MUC3B; -.
DR HGNC; HGNC:13384; MUC3B.
DR MIM; 605633; gene.
DR neXtProt; NX_Q9H195; -.
DR InParanoid; Q9H195; -.
DR PathwayCommons; Q9H195; -.
DR Reactome; R-HSA-5083625; Defective GALNT3 causes HFTC.
DR Reactome; R-HSA-5083632; Defective C1GALT1C1 causes TNPS.
DR Reactome; R-HSA-5083636; Defective GALNT12 causes 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 Pharos; Q9H195; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q9H195; protein.
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 CDD; cd00055; EGF_Lam; 1.
DR Gene3D; 3.30.70.960; -; 1.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR002049; LE_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 Disulfide bond; EGF-like domain; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..1237
FT /note="Mucin-3B"
FT /id="PRO_0000262551"
FT TRANSMEM 1141..1161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 890..923
FT /note="EGF-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 932..1057
FT /note="SEA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00188"
FT REGION 219..243
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 291..318
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 378..400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 441..460
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..565
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 745..771
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 812..846
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 894..900
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 913..922
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT VARIANT 1034
FT /note="A -> V"
FT /evidence="ECO:0000269|PubMed:10405327"
FT /id="VAR_029507"
FT VARIANT 1213
FT /note="H -> Y"
FT /evidence="ECO:0000269|PubMed:10405327"
FT /id="VAR_029508"
FT CONFLICT 362
FT /note="H -> Y (in Ref. 3; BAB12115/BAB12117)"
FT /evidence="ECO:0000305"
FT CONFLICT 835
FT /note="Q -> E (in Ref. 3; BAB12115/BAB12117)"
FT /evidence="ECO:0000305"
FT CONFLICT 850
FT /note="C -> R (in Ref. 3; BAB12115/BAB12117)"
FT /evidence="ECO:0000305"
FT CONFLICT 1042
FT /note="A -> T (in Ref. 3; BAB12115/BAB12117 and 5;
FT AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1063
FT /note="E -> A (in Ref. 5; AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1097
FT /note="L -> V (in Ref. 3; BAB12115/BAB12117 and 5;
FT AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1116
FT /note="A -> T (in Ref. 5; AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1135
FT /note="T -> A (in Ref. 3; BAB12115/BAB12117 and 5;
FT AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1167
FT /note="E -> G (in Ref. 3; BAB12115/BAB12117 and 5;
FT AAD45882)"
FT /evidence="ECO:0000305"
FT CONFLICT 1171
FT /note="R -> G (in Ref. 3; BAB12115/BAB12117 and 5;
FT AAD45882)"
FT /evidence="ECO:0000305"
FT NON_CONS 336..337
FT /evidence="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
