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Protein

Mucin-20

Gene

MUC20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176945-MONOMER.
ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-8851805. MET activates RAS signaling.
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Mucin-20
Short name:
MUC-20
Gene namesi
Name:MUC20
Synonyms:KIAA1359
ORF Names:UNQ2782/PRO7170
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:23282. MUC20.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi200958.
OpenTargetsiENSG00000176945.
ENSG00000275501.
ENSG00000276583.
ENSG00000278114.
PharmGKBiPA134939730.

Polymorphism and mutation databases

DMDMi317373415.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000031746926 – 709Mucin-20Add BLAST684

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi423N-linked (GlcNAc...)Sequence analysis1
Glycosylationi616N-linked (GlcNAc...)Sequence analysis1
Glycosylationi622N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N307.
PeptideAtlasiQ8N307.
PRIDEiQ8N307.

PTM databases

iPTMnetiQ8N307.
PhosphoSitePlusiQ8N307.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000176945.
CleanExiHS_MUC20.
ExpressionAtlasiQ8N307. baseline and differential.
GenevisibleiQ8N307. HS.

Interactioni

Subunit structurei

Interacts with MET; oligomerization increases affinity for MET.1 Publication

Protein-protein interaction databases

BioGridi128360. 23 interactors.
IntActiQ8N307. 2 interactors.
STRINGi9606.ENSP00000396774.

Structurei

3D structure databases

ProteinModelPortaliQ8N307.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati173 – 19211 PublicationAdd BLAST20
Repeati193 – 21121 PublicationAdd BLAST19
Repeati212 – 23031 PublicationAdd BLAST19
Repeati231 – 24941 PublicationAdd BLAST19
Repeati250 – 26851 PublicationAdd BLAST19
Repeati269 – 28761 PublicationAdd BLAST19
Repeati288 – 30671 PublicationAdd BLAST19
Repeati307 – 32581 PublicationAdd BLAST19
Repeati326 – 34491 PublicationAdd BLAST19
Repeati345 – 363101 PublicationAdd BLAST19
Repeati364 – 382111 PublicationAdd BLAST19
Repeati383 – 40012; approximate1 PublicationAdd BLAST18

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni173 – 40012 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-AAdd BLAST228
Regioni450 – 656Involved in oligomerizationAdd BLAST207
Regioni657 – 709Interaction with MET1 PublicationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi173 – 389Ser-richAdd BLAST217
Compositional biasi585 – 652Thr-richAdd BLAST68

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IVUU. Eukaryota.
ENOG4111Y2D. LUCA.
GeneTreeiENSGT00730000111453.
HOVERGENiHBG108160.
InParanoidiQ8N307.
PhylomeDBiQ8N307.
TreeFamiTF338458.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N307-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MGCLWGLALP LFFFCWEVGV SGSSAGPSTR RADTAMTTDD TEVPAMTLAP
60 70 80 90 100
GHAALETQTL SAETSSRAST PAGPIPEAET RGAKRISPAR ETRSFTKTSP
110 120 130 140 150
NFMVLIATSV ETSAASGSPE GAGMTTVQTI TGSDPREAIF DTLCTDDSSE
160 170 180 190 200
EAKTLTMDIL TLAHTSTEAK GLSSESSASS DSPHPVITPS RASESSASSD
210 220 230 240 250
GPHPVITPSR ASESSASSDG PHPVITPSRA SESSASSDGP HPVITPSRAS
260 270 280 290 300
ESSASSDGPH PVITPSRASE SSASSDGPHP VITPSRASES SASSDGPHPV
310 320 330 340 350
ITPSRASESS ASSDGPHPVI TPSRASESSA SSDGPHPVIT PSRASESSAS
360 370 380 390 400
SDGLHPVITP SRASESSASS DGPHPVITPS RASESSASSD GPHPVITPSW
410 420 430 440 450
SPGSDVTLLA EALVTVTNIE VINCSITEIE TTTSSIPGAS DTDLIPTEGV
460 470 480 490 500
KASSTSDPPA LPDSTEAKPH ITEVTASAET LSTAGTTESA APDATVGTPL
510 520 530 540 550
PTNSATEREV TAPGATTLSG ALVTVSRNPL EETSALSVET PSYVKVSGAA
560 570 580 590 600
PVSIEAGSAV GKTTSFAGSS ASSYSPSEAA LKNFTPSETP TMDIATKGPF
610 620 630 640 650
PTSRDPLPSV PPTTTNSSRG TNSTLAKITT SAKTTMKPPT ATPTTARTRP
660 670 680 690 700
TTDVSAGENG GFLLLRLSVA SPEDLTDPRV AERLMQQLHR ELHAHAPHFQ

VSLLRVRRG
Length:709
Mass (Da):71,982
Last modified:January 11, 2011 - v3
Checksum:iDD344A6014D39172
GO
Isoform 2 (identifier: Q8N307-3) [UniParc]FASTAAdd to basket
Also known as: hMUC20-S

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.

Show »
Length:674
Mass (Da):68,308
Checksum:i2834A68A1250F5E1
GO

Sequence cautioni

The sequence AAQ88814 differs from that shown. Reason: Frameshift at position 638.Curated
The sequence BAA92597 differs from that shown. Dubious isoform. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti75I → V in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti136R → E in BAD06718 (PubMed:14565953).Curated1
Sequence conflicti136R → E in BAD06720 (PubMed:14565953).Curated1
Sequence conflicti136R → E in AAQ88814 (PubMed:12975309).Curated1
Sequence conflicti136R → E in BAB55035 (PubMed:14702039).Curated1
Sequence conflicti136R → E in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti136R → E in AAH44243 (PubMed:15489334).Curated1
Sequence conflicti182S → G in BAD06718 (PubMed:14565953).Curated1
Sequence conflicti182S → G in BAD06720 (PubMed:14565953).Curated1
Sequence conflicti182S → G in AAQ88814 (PubMed:12975309).Curated1
Sequence conflicti182S → G in BAB55035 (PubMed:14702039).Curated1
Sequence conflicti182S → G in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti182S → G in AAH44243 (PubMed:15489334).Curated1
Sequence conflicti221P → L in BAA92597 (PubMed:10718198).Curated1
Sequence conflicti407T → A in BAB55035 (PubMed:14702039).Curated1
Sequence conflicti433T → A in BAC11428 (PubMed:14702039).Curated1
Sequence conflicti444L → P in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti493D → H in BAD06718 (PubMed:14565953).Curated1
Sequence conflicti493D → H in BAD06720 (PubMed:14565953).Curated1
Sequence conflicti493D → H in AAQ88814 (PubMed:12975309).Curated1
Sequence conflicti493D → H in BAC11428 (PubMed:14702039).Curated1
Sequence conflicti493D → H in AAH44243 (PubMed:15489334).Curated1
Sequence conflicti496V → I in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti505 – 506AT → TI in AAH29267 (PubMed:15489334).Curated2
Sequence conflicti523 – 527VTVSR → ATG in AAH29267 (PubMed:15489334).Curated5
Sequence conflicti592M → T in AAH29267 (PubMed:15489334).Curated1
Sequence conflicti654V → M in AAH29267 (PubMed:15489334).Curated1

Polymorphismi

The region encoding the tandem repeats is highly polymorphic. Divergence of the number of tandem repeats was seen in different cDNA libraries.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0385363C → S.Corresponds to variant rs7627924dbSNPEnsembl.1
Natural variantiVAR_03853718V → G.Corresponds to variant rs1811139dbSNPEnsembl.1
Natural variantiVAR_054139130 – 376Missing .Add BLAST247
Natural variantiVAR_054140184 – 354Missing .4 PublicationsAdd BLAST171
Natural variantiVAR_054141203 – 354Missing .Add BLAST152
Natural variantiVAR_054142241 – 354Missing .2 PublicationsAdd BLAST114
Natural variantiVAR_038538442T → I.4 PublicationsCorresponds to variant rs2550232dbSNPEnsembl.1
Natural variantiVAR_054143483 – 533Missing .1 PublicationAdd BLAST51
Natural variantiVAR_056641514G → R.Corresponds to variant rs3828410dbSNPEnsembl.1
Natural variantiVAR_038539590P → L.1 PublicationCorresponds to variant rs3828408dbSNPEnsembl.1
Natural variantiVAR_038540666R → W.Corresponds to variant rs11923495dbSNPEnsembl.1
Natural variantiVAR_038541671S → C.Corresponds to variant rs3762739dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0309801 – 35Missing in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS63877.1. [Q8N307-1]
RefSeqiNP_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.
UniGeneiHs.308992.

Genome annotation databases

EnsembliENST00000445522; ENSP00000405629; ENSG00000176945. [Q8N307-3]
ENST00000447234; ENSP00000414350; ENSG00000176945. [Q8N307-1]
ENST00000610415; ENSP00000479947; ENSG00000278114. [Q8N307-1]
ENST00000615394; ENSP00000483878; ENSG00000276583. [Q8N307-1]
ENST00000620530; ENSP00000479182; ENSG00000275501. [Q8N307-1]
ENST00000625274; ENSP00000485837; ENSG00000278114. [Q8N307-3]
ENST00000627739; ENSP00000485855; ENSG00000276583. [Q8N307-3]
ENST00000630334; ENSP00000485921; ENSG00000275501. [Q8N307-3]
GeneIDi200958.
KEGGihsa:200958.
UCSCiuc032soi.2. human. [Q8N307-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mucin database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS63877.1. [Q8N307-1]
RefSeqiNP_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.
UniGeneiHs.308992.

3D structure databases

ProteinModelPortaliQ8N307.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128360. 23 interactors.
IntActiQ8N307. 2 interactors.
STRINGi9606.ENSP00000396774.

PTM databases

iPTMnetiQ8N307.
PhosphoSitePlusiQ8N307.

Polymorphism and mutation databases

DMDMi317373415.

Proteomic databases

PaxDbiQ8N307.
PeptideAtlasiQ8N307.
PRIDEiQ8N307.

Protocols and materials databases

DNASUi200958.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000445522; ENSP00000405629; ENSG00000176945. [Q8N307-3]
ENST00000447234; ENSP00000414350; ENSG00000176945. [Q8N307-1]
ENST00000610415; ENSP00000479947; ENSG00000278114. [Q8N307-1]
ENST00000615394; ENSP00000483878; ENSG00000276583. [Q8N307-1]
ENST00000620530; ENSP00000479182; ENSG00000275501. [Q8N307-1]
ENST00000625274; ENSP00000485837; ENSG00000278114. [Q8N307-3]
ENST00000627739; ENSP00000485855; ENSG00000276583. [Q8N307-3]
ENST00000630334; ENSP00000485921; ENSG00000275501. [Q8N307-3]
GeneIDi200958.
KEGGihsa:200958.
UCSCiuc032soi.2. human. [Q8N307-1]

Organism-specific databases

CTDi200958.
DisGeNETi200958.
GeneCardsiMUC20.
HGNCiHGNC:23282. MUC20.
MIMi610360. gene.
neXtProtiNX_Q8N307.
OpenTargetsiENSG00000176945.
ENSG00000275501.
ENSG00000276583.
ENSG00000278114.
PharmGKBiPA134939730.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVUU. Eukaryota.
ENOG4111Y2D. LUCA.
GeneTreeiENSGT00730000111453.
HOVERGENiHBG108160.
InParanoidiQ8N307.
PhylomeDBiQ8N307.
TreeFamiTF338458.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176945-MONOMER.
ReactomeiR-HSA-5083625. Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
R-HSA-5083632. Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
R-HSA-5083636. Defective GALNT12 causes colorectal cancer 1 (CRCS1).
R-HSA-8851805. MET activates RAS signaling.
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Miscellaneous databases

GeneWikiiMUC20.
GenomeRNAii200958.
PROiQ8N307.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176945.
CleanExiHS_MUC20.
ExpressionAtlasiQ8N307. baseline and differential.
GenevisibleiQ8N307. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiMUC20_HUMAN
AccessioniPrimary (citable) accession number: Q8N307
Secondary accession number(s): Q6UX97
, Q76I83, Q76I85, Q86ST8, Q8NBY6, Q96KA1, Q9P2I8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.