ID   MUC7_HUMAN              Reviewed;         377 AA.
AC   Q8TAX7; Q9UCD7; Q9UCD8;
DT   30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   05-OCT-2010, entry version 60.
DE   RecName: Full=Mucin-7;
DE            Short=MUC-7;
DE   AltName: Full=Apo-MG2;
DE   AltName: Full=Salivary mucin-7;
DE   Flags: Precursor;
GN   Name=MUC7; Synonyms=MG2;
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], SUBCELLULAR LOCATION, AND TISSUE
RP   SPECIFICITY.
RC   TISSUE=Submandibular gland;
RX   PubMed=7690757;
RA   Bobek L.A., Tsai H., Biesbrock A.R., Levine M.J.;
RT   "Molecular cloning, sequence, and specificity of expression of the
RT   gene encoding the low molecular weight human salivary mucin (MUC7).";
RL   J. Biol. Chem. 268:20563-20569(1993).
RN   [2]
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.,
RA   Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA   Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA   Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA   Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA   Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA   Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA   Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA   Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA   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.,
RA   Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA   Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA   Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA   Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA   Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA   Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA   Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA   Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA   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.,
RA   Waterston R.H., Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2
RT   and 4.";
RL   Nature 434:724-731(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   PROTEIN SEQUENCE OF 70-92 AND 143-168, AND TISSUE SPECIFICITY.
RC   TISSUE=Saliva;
RX   MEDLINE=93075006; PubMed=1445223;
RA   Reddy M.S., Bobek L.A., Haraszthy G.G., Biesbrock A.R., Levine M.J.;
RT   "Structural features of the low-molecular-mass human salivary mucin.";
RL   Biochem. J. 287:639-643(1992).
RN   [5]
RP   PROTEIN SEQUENCE OF 93-112 AND 143-168, FUNCTION, AND GLYCOSYLATION.
RC   TISSUE=Saliva;
RX   PubMed=8104046;
RA   Reddy M.S., Levine M.J., Paranchych W.;
RT   "Low-molecular-mass human salivary mucin, MG2: structure and binding
RT   of Pseudomonas aeruginosa.";
RL   Crit. Rev. Oral Biol. Med. 4:315-323(1993).
RN   [6]
RP   FUNCTION, POLYMORPHISM, AND INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA.
RX   PubMed=11378823; DOI=10.1038/sj.ejhg.5200642;
RA   Kirkbride H.J., Bolscher J.G., Nazmi K., Vinall L.E., Nash M.W.,
RA   Moss F.M., Mitchell D.M., Swallow D.M.;
RT   "Genetic polymorphism of MUC7: allele frequencies and association with
RT   asthma.";
RL   Eur. J. Hum. Genet. 9:347-354(2001).
CC   -!- FUNCTION: May function in a protective capacity by promoting the
CC       clearance of bacteria in the oral cavity and aiding in
CC       mastication, speech, and swallowing. Binds P.aeruginosa pili.
CC   -!- SUBUNIT: Monomer.
CC   -!- INTERACTION:
CC       P04745:AMY1A; NbExp=1; IntAct=EBI-738582, EBI-738586;
CC       P15515:HTN1; NbExp=1; IntAct=EBI-738582, EBI-738638;
CC       P15516:HTN3; NbExp=1; IntAct=EBI-738582, EBI-738783;
CC       P02810:PRH1; NbExp=1; IntAct=EBI-738582, EBI-738601;
CC       P02808:STATH; NbExp=1; IntAct=EBI-738582, EBI-738687;
CC   -!- SUBCELLULAR LOCATION: Secreted.
CC   -!- TISSUE SPECIFICITY: Expressed in salivary gland tissues and only
CC       in those that contain mucous acinar cells (e.g. sublingual and
CC       submandibular glands) and not in salivary glands containing only
CC       serous acinar cells (e.g. parotid gland).
CC   -!- PTM: N- and O-glycosylated. Contains fucose, mannose, galactose,
CC       N-acetylglucosamine and N-acetylgalactosamine.
CC   -!- POLYMORPHISM: The most common allele, MUC7*6, contains a tandem
CC       repeat domain comprising 6 repeats (shown here) each composed of
CC       23 amino acids. These repeats are very similar but not identical.
CC       In a large cohort of 375 individuals from a variety of ethnic
CC       backgrounds, three different alleles were detected, MUC7*6 being
CC       the most common, in all populations studied, followed by MUC7*5 (5
CC       repeats), with frequency varying from 0.05 in Africans to 0.22 in
CC       East Asians. The MUC7*5 allele is less prevalent in patients with
CC       asthma than in controls, and seems to have a protective role in
CC       respiratory function. MUC7*8 (8 repeats), a novel rare allele, was
CC       identified in 1 Northern European individual.
CC   -!- DISEASE: Genetic variations in MUC7 are associated with
CC       susceptibility to asthma (ASTHMA) [MIM:600807]. The most common
CC       chronic disease affecting children and young adults. It is a
CC       complex genetic disorder with a heterogeneous phenotype, largely
CC       attributed to the interactions among many genes and between these
CC       genes and the environment. It is characterized by recurrent
CC       attacks of paroxysmal dyspnea, with weezing due to spasmodic
CC       contraction of the bronchi.
CC   -!- WEB RESOURCE: Name=Mucin database;
CC       URL="http://www.medkem.gu.se/mucinbiology/databases/";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; AC106884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC108518; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC025688; AAH25688.1; -; mRNA.
DR   IPI; IPI00152154; -.
DR   PIR; A48018; A48018.
DR   RefSeq; NP_001138478.1; -.
DR   RefSeq; NP_001138479.1; -.
DR   RefSeq; NP_689504.2; -.
DR   UniGene; Hs.631946; -.
DR   IntAct; Q8TAX7; 14.
DR   STRING; Q8TAX7; -.
DR   PRIDE; Q8TAX7; -.
DR   Ensembl; ENST00000304887; ENSP00000302021; ENSG00000171195.
DR   Ensembl; ENST00000413702; ENSP00000407422; ENSG00000171195.
DR   Ensembl; ENST00000456088; ENSP00000400585; ENSG00000171195.
DR   GeneID; 4589; -.
DR   KEGG; hsa:4589; -.
DR   UCSC; uc003hfj.1; human.
DR   CTD; 4589; -.
DR   GeneCards; GC04P071372; -.
DR   H-InvDB; HIX0004265; -.
DR   HGNC; HGNC:7518; MUC7.
DR   HPA; HPA006411; -.
DR   MIM; 158375; gene.
DR   MIM; 600807; phenotype.
DR   PharmGKB; PA31323; -.
DR   eggNOG; prNOG21375; -.
DR   InParanoid; Q8TAX7; -.
DR   NextBio; 17644; -.
DR   PMAP-CutDB; Q8TAX7; -.
DR   ArrayExpress; Q8TAX7; -.
DR   Bgee; Q8TAX7; -.
DR   CleanEx; HS_MUC7; -.
DR   Genevestigator; Q8TAX7; -.
DR   GermOnline; ENSG00000171195; Homo sapiens.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
PE   1: Evidence at protein level;
KW   Asthma; Complete proteome; Direct protein sequencing; Glycoprotein;
KW   Polymorphism; Repeat; Secreted; Signal.
FT   SIGNAL        1     22       Potential.
FT   CHAIN        23    377       Mucin-7.
FT                                /FTId=PRO_0000239228.
FT   REPEAT      165    187       1.
FT   REPEAT      188    210       2.
FT   REPEAT      211    233       3.
FT   REPEAT      234    256       4.
FT   REPEAT      257    279       5.
FT   REPEAT      280    302       6.
FT   COMPBIAS    104    348       Thr-rich.
FT   CARBOHYD     97     97       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    128    128       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    135    135       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    146    146       N-linked (GlcNAc...) (Potential).
FT   VARIANT      80     80       N -> K (in dbSNP:rs6826961).
FT                                /FTId=VAR_050451.
FT   CONFLICT     70     70       C -> S (in Ref. 4; AA sequence).
FT   CONFLICT     92     92       K -> P (in Ref. 4; AA sequence).
FT   CONFLICT    162    162       P -> A (in Ref. 4; AA sequence and 5; AA
FT                                sequence).
FT   CONFLICT    334    334       T -> I (in Ref. 3; AAH25688).
SQ   SEQUENCE   377 AA;  39159 MW;  1BF92D1855C13F4A CRC64;
     MKTLPLFVCI CALSACFSFS EGRERDHELR HRRHHHQSPK SHFELPHYPG LLAHQKPFIR
     KSYKCLHKRC RPKLPPSPNN PPKFPNPHQP PKHPDKNSSV VNPTLVATTQ IPSVTFPSAS
     TKITTLPNVT FLPQNATTIS SRENVNTSSS VATLAPVNSP APQDTTAAPP TPSATTPAPP
     SSSAPPETTA APPTPSATTQ APPSSSAPPE TTAAPPTPPA TTPAPPSSSA PPETTAAPPT
     PSATTPAPLS SSAPPETTAV PPTPSATTLD PSSASAPPET TAAPPTPSAT TPAPPSSPAP
     QETTAAPITT PNSSPTTLAP DTSETSAAPT HQTTTSVTTQ TTTTKQPTSA PGQNKISRFL
     LYMKNLLNRI IDDMVEQ
//