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Protein

Mucin-13

Gene

MUC13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

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-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

HGNCiHGNC:7511. MUC13.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 421403ExtracellularSequence analysisAdd
BLAST
Transmembranei422 – 44221HelicalSequence analysisAdd
BLAST
Topological domaini443 – 51270CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • Golgi lumen Source: Reactome
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31312.

Polymorphism and mutation databases

BioMutaiMUC13.
DMDMi296438300.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 512494Mucin-13PRO_0000019284Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi151 – 1511N-linked (GlcNAc...)Sequence analysis
Glycosylationi169 – 1691N-linked (GlcNAc...)Sequence analysis
Disulfide bondi177 ↔ 188PROSITE-ProRule annotation
Disulfide bondi182 ↔ 197PROSITE-ProRule annotation
Glycosylationi193 – 1931N-linked (GlcNAc...)Sequence analysis
Disulfide bondi199 ↔ 210PROSITE-ProRule annotation
Glycosylationi206 – 2061N-linked (GlcNAc...)Sequence analysis
Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence analysis
Disulfide bondi326 ↔ 338PROSITE-ProRule annotation
Disulfide bondi331 ↔ 344PROSITE-ProRule annotation
Glycosylationi332 – 3321N-linked (GlcNAc...)Sequence analysis
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.

PTM databases

iPTMnetiQ9H3R2.
PhosphoSiteiQ9H3R2.

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. 16 interactions.
IntActiQ9H3R2. 15 interactions.
MINTiMINT-5001979.
STRINGi9606.ENSP00000312235.

Structurei

3D structure databases

ProteinModelPortaliQ9H3R2.
SMRiQ9H3R2. Positions 174-211, 372-404.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini173 – 21139EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini212 – 336125SEAPROSITE-ProRule annotationAdd
BLAST
Domaini322 – 36140EGF-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini363 – 40442EGF-like 3PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi29 – 171143Thr-richAdd
BLAST

Sequence similaritiesi

Contains 3 EGF-like domains.PROSITE-ProRule annotation
Contains 1 SEA domain.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiENOG410IXVD. Eukaryota.
ENOG410XXX6. LUCA.
GeneTreeiENSGT00710000106845.
HOGENOMiHOG000168414.
HOVERGENiHBG052532.
InParanoidiQ9H3R2.
KOiK17298.
OMAiPCQDDPC.
OrthoDBiEOG091G0GHV.
TreeFamiTF335941.

Family and domain databases

InterProiIPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR009030. Growth_fac_rcpt_.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 3 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
PROSITEiPS01186. EGF_2. 2 hits.
PS50026. EGF_3. 1 hit.
PS50024. SEA. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti196 – 1961F → I in BAA90925 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181A → V.
Corresponds to variant rs4679394 [ dbSNP | Ensembl ].
VAR_056589
Natural varianti100 – 1001I → T.
Corresponds to variant rs4679392 [ dbSNP | Ensembl ].
VAR_063124
Natural varianti364 – 3641S → G.
Corresponds to variant rs16836185 [ dbSNP | Ensembl ].
VAR_056590
Natural varianti503 – 5031R → S.1 Publication
Corresponds to variant rs1127233 [ dbSNP | Ensembl ].
VAR_056591

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.
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

Cross-referencesi

Web resourcesi

Mucin database
Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.
RefSeqiNP_149038.3. NM_033049.3.
UniGeneiHs.5940.

3D structure databases

ProteinModelPortaliQ9H3R2.
SMRiQ9H3R2. Positions 174-211, 372-404.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121177. 16 interactions.
IntActiQ9H3R2. 15 interactions.
MINTiMINT-5001979.
STRINGi9606.ENSP00000312235.

PTM databases

iPTMnetiQ9H3R2.
PhosphoSiteiQ9H3R2.

Polymorphism and mutation databases

BioMutaiMUC13.
DMDMi296438300.

Proteomic databases

MaxQBiQ9H3R2.
PaxDbiQ9H3R2.
PeptideAtlasiQ9H3R2.
PRIDEiQ9H3R2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi56667.
GeneCardsiMUC13.
HGNCiHGNC:7511. MUC13.
HPAiHPA045163.
MIMi612181. gene.
neXtProtiNX_Q9H3R2.
PharmGKBiPA31312.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXVD. Eukaryota.
ENOG410XXX6. LUCA.
GeneTreeiENSGT00710000106845.
HOGENOMiHOG000168414.
HOVERGENiHBG052532.
InParanoidiQ9H3R2.
KOiK17298.
OMAiPCQDDPC.
OrthoDBiEOG091G0GHV.
TreeFamiTF335941.

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-913709. O-linked glycosylation of mucins.
R-HSA-977068. Termination of O-glycan biosynthesis.

Miscellaneous databases

ChiTaRSiMUC13. human.
GenomeRNAii56667.
PROiQ9H3R2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173702.
CleanExiHS_MUC13.
ExpressionAtlasiQ9H3R2. baseline and differential.
GenevisibleiQ9H3R2. HS.

Family and domain databases

InterProiIPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR009030. Growth_fac_rcpt_.
IPR000082. SEA_dom.
[Graphical view]
PfamiPF01390. SEA. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 3 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 2 hits.
PROSITEiPS01186. EGF_2. 2 hits.
PS50026. EGF_3. 1 hit.
PS50024. SEA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMUC13_HUMAN
AccessioniPrimary (citable) accession number: Q9H3R2
Secondary accession number(s): Q6UWD9, Q9NXT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 14, 2014
Last modified: September 7, 2016
This is version 138 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
  5. SIMILARITY comments
    Index of protein domains and families

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.