Description: Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. RefSeq Summary (NM_005961): This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]. Sequence Note: The RefSeq transcript was derived from genomic sequence based on transcript alignments and the published description of the gene structure (PubMed ID 15081123). Transcript (Including UTRs) Position: hg19 chr11:1,012,824-1,036,706 Size: 23,883 Total Exon Count: 33 Strand: - Coding Region Position: hg19 chr11:1,013,456-1,036,655 Size: 23,200 Coding Exon Count: 33
ID:MUC6_HUMAN DESCRIPTION: RecName: Full=Mucin-6; Short=MUC-6; AltName: Full=Gastric mucin-6; Flags: Precursor; FUNCTION: May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis. SUBUNIT: Multimer; disulfide-linked. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed in the regenerative zone of gastric antrum, gastric body mucosa and gastric incisura mucosa. Expressed in the deeper mucous glands of gastric antrum. Overexpressed in Helicobacter pylori infected gastric epithelium. Highly expressed in duodenal Brunner's glands, gall bladder, seminal vesicle, pancreatic centroacinar cells and ducts, and periductal glands of the common bile duct. DEVELOPMENTAL STAGE: Early expressed in fetal development and was observed in Brunner's glands and pancreatic ducts at 18-19 weeks and in gastric glands at 20 weeks of gestation. Expressed transiently in the nephrogenic zone of the kidney in the early mid-trimester of development. Detected in the epithelium of ureteric buds at 13 weeks and at lower levels from 17 to 23 weeks of gestation. INDUCTION: Up-regulated by NFKB1. Repressed by mithramycin A which is an inhibitor of binding of transcription factors. PTM: O-glycosylated. POLYMORPHISM: The number of repeats is highly polymorphic and varies among different alleles. These repeats are very similar but not identical. SIMILARITY: Contains 1 CTCK (C-terminal cystine knot-like) domain. SIMILARITY: Contains 1 TIL (trypsin inhibitory-like) domain. SIMILARITY: Contains 3 VWFD domains. SEQUENCE CAUTION: Sequence=AK092533; Type=Erroneous termination; Positions=2357; Note=Translated as Glu; Sequence=BAC04860.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MUC6 CDC HuGE Published Literature: MUC6 Positive Disease Associations: Alcoholism
, H. pylori infection Related Studies:
H. pylori infection Nguyen, T. V. et al. 2006, Short mucin 6 alleles are associated with H pylori infection, World J Gastroenterol 2006 12(37) 6021-5.
[PubMed 17009402]
Short MUC6 alleles are associated with H pylori infection.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6W4X9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK092533 - Homo sapiens cDNA FLJ35214 fis, clone PROST1000512. AK098503 - Homo sapiens cDNA FLJ25637 fis, clone STM04420. U97698 - Homo sapiens secretory mucin MUC6 (MUC6) mRNA, partial cds. AK096772 - Homo sapiens cDNA FLJ39453 fis, clone PROST2010046, highly similar to Homo sapiens secretory mucin MUC6 (MUC6) mRNA. JD170375 - Sequence 151399 from Patent EP1572962. JD475174 - Sequence 456198 from Patent EP1572962. JD515327 - Sequence 496351 from Patent EP1572962. JD492696 - Sequence 473720 from Patent EP1572962. JD079213 - Sequence 60237 from Patent EP1572962. JD369096 - Sequence 350120 from Patent EP1572962. JD085953 - Sequence 66977 from Patent EP1572962. JD332109 - Sequence 313133 from Patent EP1572962. JD065799 - Sequence 46823 from Patent EP1572962. JD096238 - Sequence 77262 from Patent EP1572962. JD535212 - Sequence 516236 from Patent EP1572962. JD432308 - Sequence 413332 from Patent EP1572962. JD530024 - Sequence 511048 from Patent EP1572962. JD154899 - Sequence 135923 from Patent EP1572962. JD439017 - Sequence 420041 from Patent EP1572962. JD383062 - Sequence 364086 from Patent EP1572962. JD411443 - Sequence 392467 from Patent EP1572962. JD068763 - Sequence 49787 from Patent EP1572962. JD276213 - Sequence 257237 from Patent EP1572962. JD487267 - Sequence 468291 from Patent EP1572962. JD051406 - Sequence 32430 from Patent EP1572962. JD412885 - Sequence 393909 from Patent EP1572962. AY312160 - Homo sapiens mucin glycoprotein (MUC6) mRNA, partial cds. AY458429 - Homo sapiens MUC6 mucin (MUC6) mRNA, partial cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q6W4X9 (Reactome details) participates in the following event(s):
R-HSA-913675 GALNTs transfer GalNAc from UDP-GalNAc to mucins to form Tn antigens R-HSA-914018 Addition of GlcNAc to Core 3 forms a Core 4 glycoprotein R-HSA-5694487 A4GNT transfers GlcNAc to core 2 mucins R-HSA-6786012 CHST4 transfers SO4(2-) from PAPS to Core 2 mucins R-HSA-914012 GCNTs transfer GlcNAc from UDP-GlcNAc to Core 1 mucins R-HSA-1964501 Addition of galactose to Core 6 glycoprotein R-HSA-914010 Addition of GlcNAc to the Tn antigen forms a Core 3 glycoprotein R-HSA-977228 Sialyltransferase I can add sialic acid to the T antigen at the alpha 6 position R-HSA-981497 ST3GAL1-4 can add a sialic acid to the T antigen at the alpha 3 position R-HSA-981814 GalNAc alpha-2,6-sialyltransferase II can add a sialic acid to the T antigen at the alpha 6 position R-HSA-1964505 C1GALT1 transfers Galactose to the Tn antigen forming Core 1 glycoproteins (T antigens) R-HSA-977071 Sialyltransferase I can add sialic acid to the Tn antigen at the alpha 6 position R-HSA-981809 ST6GALNAC3/4 can add a sialic acid to the sialyl T antigen to form the disialyl T antigen R-HSA-8858500 CLEC10A binds Tn-MUC1 R-HSA-913709 O-linked glycosylation of mucins R-HSA-5083636 Defective GALNT12 causes colorectal cancer 1 (CRCS1) R-HSA-5083625 Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) R-HSA-977068 Termination of O-glycan biosynthesis R-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) R-HSA-5621480 Dectin-2 family R-HSA-5173105 O-linked glycosylation R-HSA-3906995 Diseases associated with O-glycosylation of proteins R-HSA-5621481 C-type lectin receptors (CLRs) R-HSA-597592 Post-translational protein modification R-HSA-3781865 Diseases of glycosylation R-HSA-168249 Innate Immune System R-HSA-392499 Metabolism of proteins R-HSA-1643685 Disease R-HSA-168256 Immune System
US Server
