Q8N307 (MUC20_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 72.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Mucin-20 Short name=MUC-20 | ||||||
| Gene names |
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| 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 | 709 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 regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression. Ref.7 |
| Subunit structure | Interacts with MET; oligomerization increases affinity for MET. Ref.7 |
| Subcellular location | Secreted Potential. Apical cell membrane. Basolateral cell membrane. Cell projection › microvillus membrane Ref.1. |
| Tissue specificity | Highly expressed in kidney, moderately in placenta, lung, prostate, liver, and digestive system. In the kidney, localized in the proximal tubules but not in the glomerulus or distal tubules. Detected in most of the male urogenital tract epithelia, with the exception of epididymis. Ref.1 Ref.9 |
| Polymorphism | The region encoding the tandem repeats is highly polymorphic. Divergence of the number of tandem repeats was seen in different cDNA libraries. |
| Sequence caution | The sequence AAQ88814.1 differs from that shown. Reason: Frameshift at position 638. The sequence BAA92597.1 differs from that shown. Reason: Dubious isoform. Probable cloning artifact. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N307-1) Also known as: hMUC20-L; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8N307-3) Also known as: hMUC20-S; The sequence of this isoform differs from the canonical sequence as follows: 1-35: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 25 | 25 | Potential | ||||||
| Chain | 26 – 709 | 684 | Mucin-20 | PRO_0000317469 | |||||
Regions | |||||||||
| Repeat | 173 – 192 | 20 | 1 | ||||||
| Repeat | 193 – 211 | 19 | 2 | ||||||
| Repeat | 212 – 230 | 19 | 3 | ||||||
| Repeat | 231 – 249 | 19 | 4 | ||||||
| Repeat | 250 – 268 | 19 | 5 | ||||||
| Repeat | 269 – 287 | 19 | 6 | ||||||
| Repeat | 288 – 306 | 19 | 7 | ||||||
| Repeat | 307 – 325 | 19 | 8 | ||||||
| Repeat | 326 – 344 | 19 | 9 | ||||||
| Repeat | 345 – 363 | 19 | 10 | ||||||
| Repeat | 364 – 382 | 19 | 11 | ||||||
| Repeat | 383 – 400 | 18 | 12; approximate | ||||||
| Region | 173 – 400 | 228 | 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A | ||||||
| Region | 450 – 656 | 207 | Involved in oligomerization | ||||||
| Region | 657 – 709 | 53 | Interaction with MET | ||||||
| Compositional bias | 173 – 389 | 217 | Ser-rich | ||||||
| Compositional bias | 585 – 652 | 68 | Thr-rich | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 423 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 616 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 622 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 35 | 35 | Missing in isoform 2. | VSP_030980 | |||||
| Natural variant | 3 | 1 | C → S. Corresponds to variant rs7627924 [ dbSNP | Ensembl ]. | VAR_038536 | |||||
| Natural variant | 18 | 1 | V → G. Corresponds to variant rs1811139 [ dbSNP | Ensembl ]. | VAR_038537 | |||||
| Natural variant | 130 – 376 | 247 | Missing. | VAR_054139 | |||||
| Natural variant | 184 – 354 | 171 | Missing. | VAR_054140 | |||||
| Natural variant | 203 – 354 | 152 | Missing. | VAR_054141 | |||||
| Natural variant | 241 – 354 | 114 | Missing. | VAR_054142 | |||||
| Natural variant | 442 | 1 | T → I. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs2550232 [ dbSNP | Ensembl ]. | VAR_038538 | |||||
| Natural variant | 483 – 533 | 51 | Missing. | VAR_054143 | |||||
| Natural variant | 514 | 1 | G → R. Corresponds to variant rs3828410 [ dbSNP | Ensembl ]. | VAR_056641 | |||||
| Natural variant | 590 | 1 | P → L. Ref.5 Corresponds to variant rs3828408 [ dbSNP | Ensembl ]. | VAR_038539 | |||||
| Natural variant | 666 | 1 | R → W. Corresponds to variant rs11923495 [ dbSNP | Ensembl ]. | VAR_038540 | |||||
| Natural variant | 671 | 1 | S → C. Corresponds to variant rs3762739 [ dbSNP | Ensembl ]. | VAR_038541 | |||||
Experimental info | |||||||||
| Sequence conflict | 75 | 1 | I → V in AAH29267. Ref.5 | ||||||
| Sequence conflict | 136 | 1 | R → E in BAD06718. Ref.1 | ||||||
| Sequence conflict | 136 | 1 | R → E in BAD06720. Ref.1 | ||||||
| Sequence conflict | 136 | 1 | R → E in AAQ88814. Ref.2 | ||||||
| Sequence conflict | 136 | 1 | R → E in BAB55035. Ref.3 | ||||||
| Sequence conflict | 136 | 1 | R → E in AAH29267. Ref.5 | ||||||
| Sequence conflict | 136 | 1 | R → E in AAH44243. Ref.5 | ||||||
| Sequence conflict | 182 | 1 | S → G in BAD06718. Ref.1 | ||||||
| Sequence conflict | 182 | 1 | S → G in BAD06720. Ref.1 | ||||||
| Sequence conflict | 182 | 1 | S → G in AAQ88814. Ref.2 | ||||||
| Sequence conflict | 182 | 1 | S → G in BAB55035. Ref.3 | ||||||
| Sequence conflict | 182 | 1 | S → G in AAH29267. Ref.5 | ||||||
| Sequence conflict | 182 | 1 | S → G in AAH44243. Ref.5 | ||||||
| Sequence conflict | 221 | 1 | P → L in BAA92597. Ref.6 | ||||||
| Sequence conflict | 407 | 1 | T → A in BAB55035. Ref.3 | ||||||
| Sequence conflict | 433 | 1 | T → A in BAC11428. Ref.3 | ||||||
| Sequence conflict | 444 | 1 | L → P in AAH29267. Ref.5 | ||||||
| Sequence conflict | 493 | 1 | D → H in BAD06718. Ref.1 | ||||||
| Sequence conflict | 493 | 1 | D → H in BAD06720. Ref.1 | ||||||
| Sequence conflict | 493 | 1 | D → H in AAQ88814. Ref.2 | ||||||
| Sequence conflict | 493 | 1 | D → H in BAC11428. Ref.3 | ||||||
| Sequence conflict | 493 | 1 | D → H in AAH44243. Ref.5 | ||||||
| Sequence conflict | 496 | 1 | V → I in AAH29267. Ref.5 | ||||||
| Sequence conflict | 505 – 506 | 2 | AT → TI in AAH29267. Ref.5 | ||||||
| Sequence conflict | 523 – 527 | 5 | VTVSR → ATG in AAH29267. Ref.5 | ||||||
| Sequence conflict | 592 | 1 | M → T in AAH29267. Ref.5 | ||||||
| Sequence conflict | 654 | 1 | V → M in AAH29267. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning, genomic structure, and expression analysis of MUC20, a novel mucin protein, up-regulated in injured kidney." Higuchi T., Orita T., Nakanishi S., Katsuya K., Watanabe H., Yamasaki Y., Waga I., Nanayama T., Yamamoto Y., Munger W., Sun H.-W., Falk R.J., Jennette J.C., Alcorta D.A., Li H., Yamamoto T., Saito Y., Nakamura M. J. Biol. Chem. 279:1968-1979(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANTS 184-HIS--LEU-354 DEL; 241-HIS--LEU-354 DEL AND ILE-442, POLYMORPHISM, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Kidney. |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS 184-HIS--LEU-354 DEL AND ILE-442. |
| [3] | "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] (ISOFORM 1), VARIANTS 184-HIS--LEU-354 DEL; ILE-442 AND 483-THR--THR-533 DEL. Tissue: Embryo and Placenta. |
| [4] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS 184-HIS--LEU-354 DEL; 203-HIS--LEU-354; DEL ILE-442 AND LEU-590. Tissue: Brain and Colon. |
| [6] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-638 (ISOFORM 1), VARIANT 241-HIS--LEU-354 DEL. Tissue: Brain. |
| [7] | "MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras pathway by binding to a multifunctional docking site of met." Higuchi T., Orita T., Katsuya K., Yamasaki Y., Akiyama K., Li H., Yamamoto T., Saito Y., Nakamura M. Mol. Cell. Biol. 24:7456-7468(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH MET. |
| [8] | "Tandem repeats polymorphism of MUC20 is an independent factor for the progression of immunoglobulin A nephropathy." Li G., Zhang H., Lv J., Hou P., Wang H. Am. J. Nephrol. 26:43-49(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TANDEM REPEATS POLYMORPHISM. |
| [9] | "Mucin gene expression in human male urogenital tract epithelia." Russo C.L., Spurr-Michaud S., Tisdale A., Pudney J., Anderson D., Gipson I.K. Hum. Reprod. 21:2783-2793(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB098731 mRNA. Translation: BAD06718.1. AB098733 Genomic DNA. Translation: BAD06720.1. AY358449 mRNA. Translation: AAQ88814.1. Frameshift. AK027314 mRNA. Translation: BAB55035.1. AK075138 mRNA. Translation: BAC11428.1. AC069513 Genomic DNA. No translation available. BC029267 mRNA. Translation: AAH29267.1. BC044243 mRNA. Translation: AAH44243.1. AB037780 mRNA. Translation: BAA92597.1. Sequence problems. |
| IPI | IPI00002234. IPI00885179. |
| RefSeq | NP_001091986.1. NM_001098516.1. NP_689886.2. NM_152673.2. |
| UniGene | Hs.308992. |
3D structure databases | |
| ProteinModelPortal | Q8N307. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8N307. 2 interactions. |
| STRING | 9606.ENSP00000396774. |
PTM databases | |
| PhosphoSite | Q8N307. |
Polymorphism databases | |
| DMDM | 167017384. |
Proteomic databases | |
| PaxDb | Q8N307. |
| PRIDE | Q8N307. |
Protocols and materials databases | |
| DNASU | 200958. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000445522; ENSP00000405629; ENSG00000176945. ENST00000447234; ENSP00000414350; ENSG00000176945. |
| GeneID | 200958. |
| KEGG | hsa:200958. |
Organism-specific databases | |
| CTD | 200958. |
| GeneCards | GC03P195343. |
| HGNC | HGNC:23282. MUC20. |
| MIM | 610360. gene. |
| neXtProt | NX_Q8N307. |
| PharmGKB | PA134939730. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG84731. |
| HOVERGEN | HBG108160. |
| OrthoDB | EOG4BRWM6. |
Enzyme and pathway databases | |
| Reactome | REACT_17015. Metabolism of proteins. |
Gene expression databases | |
| ArrayExpress | Q8N307. |
| Bgee | Q8N307. |
| CleanEx | HS_MUC20. |
| Genevestigator | Q8N307. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 200958. |
| NextBio | 90029. |
| SOURCE | Search... |
Entry information
| Entry name | MUC20_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N307 Secondary accession number(s): Q6UX97 Q9P2I8 | ||||||||
| Entry history |
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| 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 3 Human chromosome 3: 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 |

Clusters with
