Q6W4X9 (MUC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Mucin-6 Short name=MUC-6 Alternative name(s): Gastric mucin-6 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 2439 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.10 Ref.11 Ref.12 |
| Subunit structure | Multimer; disulfide-linked. Ref.8 |
| Subcellular location | |
| 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. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 |
| 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. Ref.10 Ref.11 |
| Induction | Up-regulated by NFKB1. Repressed by mithramycin A which is an inhibitor of binding of transcription factors. Ref.14 |
| Post-translational modification | O-glycosylated. Ref.12 |
| Polymorphism | The number of repeats is highly polymorphic and varies among different alleles. These repeats are very similar but not identical. |
| Sequence similarities | Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 TIL (trypsin inhibitory-like) domain. Contains 3 VWFD domains. |
| Sequence caution | The sequence AK092533 differs from that shown. Reason: Erroneous termination at position 2357. Translated as Glu. The sequence BAC04860.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat Signal |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | O-glycan processing Traceable author statement. Source: Reactome maintenance of gastrointestinal epitheliumNon-traceable author statement Ref.5. Source: UniProtKB post-translational protein modificationTraceable author statement. Source: Reactome |
| Cellular_component | Golgi lumen Traceable author statement. Source: Reactome extracellular regionNon-traceable author statement. Source: UniProtKB |
| Molecular_function | extracellular matrix structural constituent Non-traceable author statement Ref.5. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||||
| Chain | 23 – 2439 | 2417 | Mucin-6 | PRO_0000259496 | |||||||
Regions | |||||||||||
| Domain | 44 – 246 | 203 | VWFD 1 | ||||||||
| Domain | 302 – 357 | 56 | TIL | ||||||||
| Domain | 396 – 608 | 213 | VWFD 2 | ||||||||
| Domain | 867 – 1075 | 209 | VWFD 3 | ||||||||
| Repeat | 1561 – 1738 | 178 | 1; truncated | ||||||||
| Repeat | 1785 – 1953 | 169 | 2 | ||||||||
| Domain | 2349 – 2438 | 90 | CTCK | ||||||||
| Region | 1607 – 1953 | 347 | Approximate repeats | ||||||||
| Compositional bias | 1241 – 1664 | 424 | Pro-rich | ||||||||
| Compositional bias | 1246 – 2344 | 1099 | Thr-rich | ||||||||
| Compositional bias | 2069 – 2275 | 207 | Ser-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 268 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 486 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 659 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 975 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1179 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 67 ↔ 75 | By similarity | |||||||||
| Disulfide bond | 2349 ↔ 2396 | By similarity | |||||||||
| Disulfide bond | 2363 ↔ 2410 | By similarity | |||||||||
| Disulfide bond | 2372 ↔ 2430 | By similarity | |||||||||
| Disulfide bond | 2376 ↔ 2432 | By similarity | |||||||||
| Disulfide bond | ? ↔ 2437 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 1578 | 1 | P → S. Corresponds to variant rs10736904 [ dbSNP | Ensembl ]. | VAR_059542 | |||||||
| Natural variant | 1794 | 1 | P → T. Ref.5 Corresponds to variant rs35549382 [ dbSNP | Ensembl ]. | VAR_061488 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 81 | 1 | T → S in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 231 | 1 | I → G in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 271 | 1 | C → Y in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 289 – 291 | 3 | RRW → AL in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 322 – 323 | 2 | PQ → SE in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 341 | 1 | V → D in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 569 | 1 | A → D in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 614 | 1 | F → I in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 619 | 1 | V → M in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 757 | 1 | P → L in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 818 | 1 | D → Y in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 903 | 1 | D → Y in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 1472 | 1 | T → S in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 1544 | 1 | T → S in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 1558 | 1 | V → M in AAQ82434. Ref.2 | ||||||||
| Sequence conflict | 1806 – 1807 | 2 | TT → SS in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1815 | 1 | V → M in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1833 | 1 | H → E in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1842 | 1 | S → P in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1857 | 1 | I → T in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1861 | 1 | T → A in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1872 | 1 | M → T in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1880 – 1885 | 6 | PTTIKA → LTTLMN in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1895 | 1 | M → V in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1905 – 1906 | 2 | SP → AA in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1919 – 1920 | 2 | PY → HS in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1934 | 1 | S → A in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1937 – 1951 | 15 | NITPK…TRTPV → KITTNPTSIGSSTPM in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1940 | 1 | P → F in BAC04860. Ref.6 | ||||||||
| Sequence conflict | 1958 | 1 | S → T in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1963 | 1 | P → T in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 1972 | 1 | P → S in AAA35866. Ref.5 | ||||||||
| Sequence conflict | 2091 | 1 | S → SSWS in AAC51370. Ref.8 | ||||||||
| Sequence conflict | 2129 | 1 | S → F in BAC04860. Ref.6 | ||||||||
| Sequence conflict | 2190 – 2192 | 3 | ASV → GSG in AAC51370. Ref.8 | ||||||||
| Sequence conflict | 2272 | 1 | R → G in AAC51370. Ref.8 | ||||||||
| Sequence conflict | 2318 | 1 | F → S in AAC51370. Ref.8 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "The complete genomic organization of the human MUC6 and MUC2 mucin genes." Rousseau K., Byrne C., Kim Y.S., Gum J.R. Jr., Swallow D.M., Toribara N.W. Genomics 83:936-939(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1570. |
| [3] | "Muc6 mucin exon1-exon3." van Seuningen I. Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-119. |
| [4] | "Promotor characterization of the human MUC6." van Seuningen I., Desseyn J.-L. Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 10-116. |
| [5] | "Human gastric mucin. Identification of a unique species by expression cloning." Toribara N.W., Roberton A.M., Ho S.B., Kuo W.-L., Gum E., Hicks J.W., Gum J.R. Jr., Byrd J.C., Siddiki B., Kim Y.S. J. Biol. Chem. 268:5879-5885(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1785-1998, VARIANT THR-1794. Tissue: Stomach. |
| [6] | Toribara N.W., Roberton A.M., Ho S.B., Kuo W.-L., Gum E., Hicks J.W., Gum J.R. Jr., Byrd J.C., Siddiki B., Kim Y.S. Submitted (SEP-2007) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO 1954-1998. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1843-2439. Tissue: Prostate. |
| [8] | "The carboxyl-terminal sequence of the human secretory mucin, MUC6. Analysis of the primary amino acid sequence." Toribara N.W., Ho S.B., Gum E., Gum J.R. Jr., Lau P., Kim Y.S. J. Biol. Chem. 272:16398-16403(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2022-2439, SUBUNIT. |
| [9] | "Human mucin genes MUC2, MUC3, MUC4, MUC5AC, MUC5B, and MUC6 express stable and extremely large mRNAs and exhibit a variable length polymorphism. An improved method to analyze large mRNAs." Debailleul V., Laine A., Huet G., Mathon P., d'Hooghe M.C., Aubert J.-P., Porchet N. J. Biol. Chem. 273:881-890(1998) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, POLYMORPHISM. |
| [10] | "The MUC6 secretory mucin gene is expressed in a wide variety of epithelial tissues." Bartman A.E., Buisine M.-P., Aubert J.-P., Niehans G.A., Toribara N.W., Kim Y.S., Kelly E.J., Crabtree J.E., Ho S.B. J. Pathol. 186:398-405(1998) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, FUNCTION, DEVELOPMENTAL STAGE. |
| [11] | "Expression of the MUC 6 mucin gene in development of the human kidney and male genital ducts." Reid C.J., Harris A. J. Histochem. Cytochem. 47:817-822(1999) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. |
| [12] | "Gastric MUC5AC and MUC6 are large oligomeric mucins that differ in size, glycosylation and tissue distribution." Nordman H., Davies J.R., Lindell G., de Bolos C., Real F., Carlstedt I. Biochem. J. 364:191-200(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, GLYCOSYLATION. |
| [13] | "Aberrant epithelial expression of trefoil family factor 2 and mucin 6 in Helicobacter pylori infected gastric antrum, incisura, and body and its association with antralisation." Xia H.H.-X., Yang Y., Lam S.K., Wong W.M., Leung S.Y., Yuen S.T., Elia G., Wright N.A., Wong B.C.-Y. J. Clin. Pathol. 57:861-866(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [14] | "Upregulation of MUC6 mucin gene expression by NFkappaB and Sp factors." Sakai H., Jinawath A., Yamaoka S., Yuasa Y. Biochem. Biophys. Res. Commun. 333:1254-1260(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AC139749 Genomic DNA. No translation available. AY312160 mRNA. Translation: AAQ82434.1. AY458429 mRNA. Translation: AAS13634.1. AY500284 Genomic DNA. Translation: AAS76674.1. L07517 mRNA. Translation: AAA35866.2. AK092533 mRNA. No translation available. AK096772 mRNA. Translation: BAC04860.1. Different initiation. U97698 mRNA. Translation: AAC51370.1. |
| IPI | IPI00941125. |
| PIR | A46629. |
| RefSeq | NP_005952.2. NM_005961.2. |
| UniGene | Hs.528432. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1CCV based on UniProtKB P56682. |
| ProteinModelPortal | Q6W4X9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000406861. |
Protein family/group databases | |
| MEROPS | I08.952. |
PTM databases | |
| PhosphoSite | Q6W4X9. |
Polymorphism databases | |
| DMDM | 117949606. |
Proteomic databases | |
| PaxDb | Q6W4X9. |
| PRIDE | Q6W4X9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000421673; ENSP00000406861; ENSG00000184956. |
| GeneID | 4588. |
| KEGG | hsa:4588. |
| UCSC | uc001lsw.2. human. |
Organism-specific databases | |
| CTD | 4588. |
| GeneCards | GC11M001002. |
| H-InvDB | HIX0023085. |
| HGNC | HGNC:7517. MUC6. |
| HPA | CAB002165. |
| MIM | 158374. gene. |
| neXtProt | NX_Q6W4X9. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOVERGEN | HBG081998. |
| InParanoid | Q6W4X9. |
| OMA | HTPLTSH. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
Gene expression databases | |
| ArrayExpress | Q6W4X9. |
| Bgee | Q6W4X9. |
| CleanEx | HS_MUC6. |
| Genevestigator | Q6W4X9. |
| GermOnline | ENSG00000184956. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006207. Cys_knot_C. IPR002919. TIL_dom. IPR014853. Unchr_dom_Cys-rich. IPR001846. VWF_type-D. [Graphical view] |
| Pfam | PF08742. C8. 3 hits. PF01826. TIL. 3 hits. PF00094. VWD. 3 hits. [Graphical view] |
| SMART | SM00832. C8. 3 hits. SM00041. CT. 1 hit. SM00216. VWD. 3 hits. [Graphical view] |
| SUPFAM | SSF57567. Cysrich_TIL. 3 hits. |
| PROSITE | PS01225. CTCK_2. 1 hit. PS51233. VWFD. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 4588. |
| NextBio | 17636. |
| SOURCE | Search... |
Entry information
| Entry name | MUC6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6W4X9 Secondary accession number(s): O15329 Q8NAK1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
