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Protein

Mucin-13

Gene

MUC13

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

Functioni

Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • maintenance of gastrointestinal epithelium Source: UniProtKB
  • O-glycan processing Source: Reactome
  • stimulatory C-type lectin receptor signaling pathway Source: Reactome

Enzyme and pathway databases

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-5621480 Dectin-2 family
R-HSA-913709 O-linked glycosylation of mucins
R-HSA-977068 Termination of O-glycan biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Mucin-13
Short name:
MUC-13
Alternative name(s):
Down-regulated in colon cancer 1
Gene namesi
Name:MUC13
Synonyms:DRCC1, RECC
ORF Names:UNQ6194/PRO20221
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000173702.7
HGNCiHGNC:7511 MUC13
MIMi612181 gene
neXtProtiNX_Q9H3R2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 421ExtracellularSequence analysisAdd BLAST403
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 512CytoplasmicSequence analysisAdd BLAST70

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi56667
OpenTargetsiENSG00000173702
PharmGKBiPA31312

Polymorphism and mutation databases

BioMutaiMUC13
DMDMi296438300

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001928419 – 512Mucin-13Add BLAST494

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi151N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi169N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi177 ↔ 188PROSITE-ProRule annotation
Disulfide bondi182 ↔ 197PROSITE-ProRule annotation
Glycosylationi193N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi199 ↔ 210PROSITE-ProRule annotation
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi326 ↔ 338PROSITE-ProRule annotation
Disulfide bondi331 ↔ 344PROSITE-ProRule annotation
Glycosylationi332N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi346 ↔ 360PROSITE-ProRule annotation
Disulfide bondi367 ↔ 378PROSITE-ProRule annotation
Disulfide bondi371 ↔ 389PROSITE-ProRule annotation
Disulfide bondi391 ↔ 403PROSITE-ProRule annotation

Post-translational modificationi

Cleaved into two subunits, alpha and beta, probably between the first EGF domain and the SEA domain. Beta subunit contains the cytoplasmic tail and alpha subunit the extracellular tail. The homooligomerization into dimers is dependent on intrachain disulfide bonds.
Highly N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ9H3R2
PaxDbiQ9H3R2
PeptideAtlasiQ9H3R2
PRIDEiQ9H3R2
ProteomicsDBi80744

PTM databases

iPTMnetiQ9H3R2
PhosphoSitePlusiQ9H3R2

Expressioni

Tissue specificityi

Highly expressed in epithelial tissues, particularly those of the gastrointestinal and respiratory tracts, such as large intestine and trachea, followed by kidney, small intestine, appendix and stomach.1 Publication

Gene expression databases

BgeeiENSG00000173702
CleanExiHS_MUC13
ExpressionAtlasiQ9H3R2 baseline and differential
GenevisibleiQ9H3R2 HS

Organism-specific databases

HPAiHPA045163

Interactioni

Subunit structurei

Homodimer of beta subunits.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi121177, 17 interactors
IntActiQ9H3R2, 15 interactors
STRINGi9606.ENSP00000312235

Structurei

3D structure databases

ProteinModelPortaliQ9H3R2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini173 – 211EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini212 – 336SEAPROSITE-ProRule annotationAdd BLAST125
Domaini322 – 361EGF-like 2PROSITE-ProRule annotationAdd BLAST40
Domaini363 – 404EGF-like 3PROSITE-ProRule annotationAdd BLAST42

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi29 – 171Thr-richAdd BLAST143

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IXVD Eukaryota
ENOG410XXX6 LUCA
GeneTreeiENSGT00710000106845
HOGENOMiHOG000168414
HOVERGENiHBG052532
InParanoidiQ9H3R2
KOiK17298
OMAiRCDYYGC
OrthoDBiEOG091G0GHV
TreeFamiTF335941

Family and domain databases

InterProiView protein in InterPro
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR000082 SEA_dom
PfamiView protein in Pfam
PF01390 SEA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 3 hits
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 1 hit
PS50024 SEA, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9H3R2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKAIIHLTLL ALLSVNTATN QGNSADAVTT TETATSGPTV AAADTTETNF
60 70 80 90 100
PETASTTANT PSFPTATSPA PPIISTHSSS TIPTPAPPII STHSSSTIPI
110 120 130 140 150
PTAADSESTT NVNSLATSDI ITASSPNDGL ITMVPSETQS NNEMSPTTED
160 170 180 190 200
NQSSGPPTGT ALLETSTLNS TGPSNPCQDD PCADNSLCVK LHNTSFCLCL
210 220 230 240 250
EGYYYNSSTC KKGKVFPGKI SVTVSETFDP EEKHSMAYQD LHSEITSLFK
260 270 280 290 300
DVFGTSVYGQ TVILTVSTSL SPRSEMRADD KFVNVTIVTI LAETTSDNEK
310 320 330 340 350
TVTEKINKAI RSSSSNFLNY DLTLRCDYYG CNQTADDCLN GLACDCKSDL
360 370 380 390 400
QRPNPQSPFC VASSLKCPDA CNAQHKQCLI KKSGGAPECA CVPGYQEDAN
410 420 430 440 450
GNCQKCAFGY SGLDCKDKFQ LILTIVGTIA GIVILSMIIA LIVTARSNNK
460 470 480 490 500
TKHIEEENLI DEDFQNLKLR STGFTNLGAE GSVFPKVRIT ASRDSQMQNP
510
YSRHSSMPRP DY
Length:512
Mass (Da):54,604
Last modified:May 14, 2014 - v3
Checksum:i17D34E17B1637581
GO

Sequence cautioni

The sequence BAA90925 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti196F → I in BAA90925 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05658918A → V. Corresponds to variant dbSNP:rs4679394Ensembl.1
Natural variantiVAR_063124100I → T. Corresponds to variant dbSNP:rs4679392Ensembl.1
Natural variantiVAR_056590364S → G. Corresponds to variant dbSNP:rs16836185Ensembl.1
Natural variantiVAR_056591503R → S1 PublicationCorresponds to variant dbSNP:rs1127233Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB035807 mRNA Translation: BAB19651.1
AF286113 mRNA Translation: AAK56861.1
AY358831 mRNA Translation: AAQ89190.1
AC026342 Genomic DNA No translation available.
AK000070 mRNA Translation: BAA90925.1 Different initiation.
CCDSiCCDS33839.2
RefSeqiNP_149038.3, NM_033049.3
UniGeneiHs.5940

Genome annotation databases

EnsembliENST00000616727; ENSP00000485028; ENSG00000173702
GeneIDi56667
KEGGihsa:56667
UCSCiuc032sai.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMUC13_HUMAN
AccessioniPrimary (citable) accession number: Q9H3R2
Secondary accession number(s): Q6UWD9, Q9NXT5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 14, 2014
Last modified: June 20, 2018
This is version 152 of the entry and version 3 of the sequence. See 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

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