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Q8N307 (MUC20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mucin-20

Short name=MUC-20
Gene names
Name:MUC20
Synonyms:KIAA1359
ORF Names:UNQ2782/PRO7170
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length709 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 projectionmicrovillus 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 709684Mucin-20
PRO_0000317469

Regions

Repeat173 – 192201
Repeat193 – 211192
Repeat212 – 230193
Repeat231 – 249194
Repeat250 – 268195
Repeat269 – 287196
Repeat288 – 306197
Repeat307 – 325198
Repeat326 – 344199
Repeat345 – 3631910
Repeat364 – 3821911
Repeat383 – 4001812; approximate
Region173 – 40022812 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
Region450 – 656207Involved in oligomerization
Region657 – 70953Interaction with MET
Compositional bias173 – 389217Ser-rich
Compositional bias585 – 65268Thr-rich

Amino acid modifications

Glycosylation4231N-linked (GlcNAc...) Potential
Glycosylation6161N-linked (GlcNAc...) Potential
Glycosylation6221N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 3535Missing in isoform 2.
VSP_030980
Natural variant31C → S.
Corresponds to variant rs7627924 [ dbSNP | Ensembl ].
VAR_038536
Natural variant181V → G.
Corresponds to variant rs1811139 [ dbSNP | Ensembl ].
VAR_038537
Natural variant130 – 376247Missing.
VAR_054139
Natural variant184 – 354171Missing.
VAR_054140
Natural variant203 – 354152Missing.
VAR_054141
Natural variant241 – 354114Missing.
VAR_054142
Natural variant4421T → I. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs2550232 [ dbSNP | Ensembl ].
VAR_038538
Natural variant483 – 53351Missing.
VAR_054143
Natural variant5141G → R.
Corresponds to variant rs3828410 [ dbSNP | Ensembl ].
VAR_056641
Natural variant5901P → L. Ref.5
Corresponds to variant rs3828408 [ dbSNP | Ensembl ].
VAR_038539
Natural variant6661R → W.
Corresponds to variant rs11923495 [ dbSNP | Ensembl ].
VAR_038540
Natural variant6711S → C.
Corresponds to variant rs3762739 [ dbSNP | Ensembl ].
VAR_038541

Experimental info

Sequence conflict751I → V in AAH29267. Ref.5
Sequence conflict1361R → E in BAD06718. Ref.1
Sequence conflict1361R → E in BAD06720. Ref.1
Sequence conflict1361R → E in AAQ88814. Ref.2
Sequence conflict1361R → E in BAB55035. Ref.3
Sequence conflict1361R → E in AAH29267. Ref.5
Sequence conflict1361R → E in AAH44243. Ref.5
Sequence conflict1821S → G in BAD06718. Ref.1
Sequence conflict1821S → G in BAD06720. Ref.1
Sequence conflict1821S → G in AAQ88814. Ref.2
Sequence conflict1821S → G in BAB55035. Ref.3
Sequence conflict1821S → G in AAH29267. Ref.5
Sequence conflict1821S → G in AAH44243. Ref.5
Sequence conflict2211P → L in BAA92597. Ref.6
Sequence conflict4071T → A in BAB55035. Ref.3
Sequence conflict4331T → A in BAC11428. Ref.3
Sequence conflict4441L → P in AAH29267. Ref.5
Sequence conflict4931D → H in BAD06718. Ref.1
Sequence conflict4931D → H in BAD06720. Ref.1
Sequence conflict4931D → H in AAQ88814. Ref.2
Sequence conflict4931D → H in BAC11428. Ref.3
Sequence conflict4931D → H in AAH44243. Ref.5
Sequence conflict4961V → I in AAH29267. Ref.5
Sequence conflict505 – 5062AT → TI in AAH29267. Ref.5
Sequence conflict523 – 5275VTVSR → ATG in AAH29267. Ref.5
Sequence conflict5921M → T in AAH29267. Ref.5
Sequence conflict6541V → M in AAH29267. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (hMUC20-L) [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: DD344A6014D39172

FASTA70971,982
        10         20         30         40         50         60 
MGCLWGLALP LFFFCWEVGV SGSSAGPSTR RADTAMTTDD TEVPAMTLAP GHAALETQTL 

        70         80         90        100        110        120 
SAETSSRAST PAGPIPEAET RGAKRISPAR ETRSFTKTSP NFMVLIATSV ETSAASGSPE 

       130        140        150        160        170        180 
GAGMTTVQTI TGSDPREAIF DTLCTDDSSE EAKTLTMDIL TLAHTSTEAK GLSSESSASS 

       190        200        210        220        230        240 
DSPHPVITPS RASESSASSD GPHPVITPSR ASESSASSDG PHPVITPSRA SESSASSDGP 

       250        260        270        280        290        300 
HPVITPSRAS ESSASSDGPH PVITPSRASE SSASSDGPHP VITPSRASES SASSDGPHPV 

       310        320        330        340        350        360 
ITPSRASESS ASSDGPHPVI TPSRASESSA SSDGPHPVIT PSRASESSAS SDGLHPVITP 

       370        380        390        400        410        420 
SRASESSASS DGPHPVITPS RASESSASSD GPHPVITPSW SPGSDVTLLA EALVTVTNIE 

       430        440        450        460        470        480 
VINCSITEIE TTTSSIPGAS DTDLIPTEGV KASSTSDPPA LPDSTEAKPH ITEVTASAET 

       490        500        510        520        530        540 
LSTAGTTESA APDATVGTPL PTNSATEREV TAPGATTLSG ALVTVSRNPL EETSALSVET 

       550        560        570        580        590        600 
PSYVKVSGAA PVSIEAGSAV GKTTSFAGSS ASSYSPSEAA LKNFTPSETP TMDIATKGPF 

       610        620        630        640        650        660 
PTSRDPLPSV PPTTTNSSRG TNSTLAKITT SAKTTMKPPT ATPTTARTRP TTDVSAGENG 

       670        680        690        700 
GFLLLRLSVA SPEDLTDPRV AERLMQQLHR ELHAHAPHFQ VSLLRVRRG 

« Hide

Isoform 2 (hMUC20-S) [UniParc].

Checksum: 2834A68A1250F5E1
Show »

FASTA67468,308

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. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., 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.
CCDSCCDS63877.1. [Q8N307-1]
RefSeqNP_001269435.1. NM_001282506.1. [Q8N307-1]
NP_001278762.1. NM_001291833.1.
NP_065841.1. NM_020790.1.
NP_689886.3. NM_152673.3.
UniGeneHs.308992.

3D structure databases

ProteinModelPortalQ8N307.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128360. 2 interactions.
IntActQ8N307. 2 interactions.
STRING9606.ENSP00000396774.

PTM databases

PhosphoSiteQ8N307.

Polymorphism databases

DMDM317373415.

Proteomic databases

PaxDbQ8N307.
PRIDEQ8N307.

Protocols and materials databases

DNASU200958.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000445522; ENSP00000405629; ENSG00000176945. [Q8N307-3]
ENST00000447234; ENSP00000414350; ENSG00000176945. [Q8N307-1]
GeneID200958.
KEGGhsa:200958.

Organism-specific databases

CTD200958.
GeneCardsGC03P195447.
HGNCHGNC:23282. MUC20.
MIM610360. gene.
neXtProtNX_Q8N307.
PharmGKBPA134939730.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG84731.
HOVERGENHBG108160.
OrthoDBEOG7HXCS0.
PhylomeDBQ8N307.
TreeFamTF338458.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ8N307.
BgeeQ8N307.
CleanExHS_MUC20.
GenevestigatorQ8N307.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiMUC20.
NextBio90029.
PROQ8N307.
SOURCESearch...

Entry information

Entry nameMUC20_HUMAN
AccessionPrimary (citable) accession number: Q8N307
Secondary accession number(s): Q6UX97 expand/collapse secondary AC list , Q76I83, Q76I85, Q86ST8, Q8NBY6, Q96KA1, Q9P2I8
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 82 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM