| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili. SUBUNIT: Monomer. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed in salivary gland tissues and only in those that contain mucous acinar cells (e.g. sublingual and submandibular glands) and not in salivary glands containing only serous acinar cells (e.g. parotid gland). PTM: N- and O-glycosylated. Contains fucose, mannose, galactose, N-acetylglucosamine and N-acetylgalactosamine. POLYMORPHISM: The most common allele, MUC7*6, contains a tandem repeat domain comprising 6 repeats (shown here) each composed of 23 amino acids. These repeats are very similar but not identical. In a large cohort of 375 individuals from a variety of ethnic backgrounds, three different alleles were detected, MUC7*6 being the most common, in all populations studied, followed by MUC7*5 (5 repeats), with frequency varying from 0.05 in Africans to 0.22 in East Asians. The MUC7*5 allele is less prevalent in patients with asthma than in controls, and seems to have a protective role in respiratory function. MUC7*8 (8 repeats), a novel rare allele, was identified in 1 Northern European individual. DISEASE: Genetic variations in MUC7 are associated with susceptibility to asthma (ASTHMA) [MIM:600807]. The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with weezing due to spasmodic contraction of the bronchi. WEB RESOURCE: Name=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/"; GENE SYNONYMS:MUC7 MG2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 377 AA; 39159 MW; 1BF92D1855C13F4A CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:7518,
urn:biopax:RelationshipXref:NCBI GENE_4589,
urn:biopax:RelationshipXref:REFSEQ_NP_001138478,
urn:biopax:RelationshipXref:REFSEQ_NP_001138479,
urn:biopax:RelationshipXref:REFSEQ_NP_689504,
urn:biopax:UnificationXref:UNIPROT_Q8TAX7,
urn:biopax:UnificationXref:UNIPROT_Q9UCD7,
urn:biopax:UnificationXref:UNIPROT_Q9UCD8
|
| biopax3:displayName |
MUC7_HUMAN
|
| biopax3:name |
Apo-MG2,
MUC-7,
MUC7,
Salivary mucin-7
|
| biopax3:organism | |
| biopax3:sequence |
MKTLPLFVCICALSACFSFSEGRERDHELRHRRHHHQSPKSHFELPHYPGLLAHQKPFIRKSYKCLHKRCRPKLPPSPNNPPKFPNPHQPPKHPDKNSSVVNPTLVATTQIPSVTFPSASTKITTLPNVTFLPQNATTISSRENVNTSSSVATLAPVNSPAPQDTTAAPPTPSATTPAPPSSSAPPETTAAPPTPSATTQAPPSSSAPPETTAAPPTPPATTPAPPSSSAPPETTAAPPTPSATTPAPLSSSAPPETTAVPPTPSATTLDPSSASAPPETTAAPPTPSATTPAPPSSPAPQETTAAPITTPNSSPTTLAPDTSETSAAPTHQTTTSVTTQTTTTKQPTSAPGQNKISRFLLYMKNLLNRIIDDMVEQ
|
| biopax3:standardName |
Mucin-7
|