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UniProtKB - Q9H3R2 (MUC13_HUMAN)
Protein
Mucin-13
Gene
MUC13
Organism
Homo sapiens (Human)
Status
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
Enzyme and pathway databases
PathwayCommonsi | Q9H3R2 |
Reactomei | R-HSA-5083625, Defective GALNT3 causes HFTC R-HSA-5083632, Defective C1GALT1C1 causes TNPS R-HSA-5083636, Defective GALNT12 causes CRCS1 R-HSA-5621480, Dectin-2 family R-HSA-913709, O-linked glycosylation of mucins R-HSA-9696264, RND3 GTPase cycle R-HSA-9696270, RND2 GTPase cycle R-HSA-9696273, RND1 GTPase cycle R-HSA-977068, Termination of O-glycan biosynthesis |
SignaLinki | Q9H3R2 |
Names & Taxonomyi
Protein namesi | Recommended name: Mucin-13Short name: MUC-13 Alternative name(s): Down-regulated in colon cancer 1 |
Gene namesi | Name:MUC13 Synonyms:DRCC1, RECC ORF Names:UNQ6194/PRO20221 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7511, MUC13 |
MIMi | 612181, gene |
neXtProti | NX_Q9H3R2 |
VEuPathDBi | HostDB:ENSG00000173702 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
- Apical cell membrane 1 Publication
Note: Also exists as a soluble form.
Cytosol
- cytosol Source: UniProtKB
Extracellular region or secreted
- extracellular space Source: UniProtKB
Golgi apparatus
- Golgi lumen Source: Reactome
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 19 – 421 | ExtracellularSequence analysisAdd BLAST | 403 | |
Transmembranei | 422 – 442 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 443 – 512 | CytoplasmicSequence analysisAdd BLAST | 70 |
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Organism-specific databases
DisGeNETi | 56667 |
OpenTargetsi | ENSG00000173702 |
PharmGKBi | PA31312 |
Miscellaneous databases
Pharosi | Q9H3R2, Tbio |
Genetic variation databases
BioMutai | MUC13 |
DMDMi | 296438300 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000019284 | 19 – 512 | Mucin-13Add BLAST | 494 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 151 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 169 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 177 ↔ 188 | PROSITE-ProRule annotation | ||
Disulfide bondi | 182 ↔ 197 | PROSITE-ProRule annotation | ||
Glycosylationi | 193 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 199 ↔ 210 | PROSITE-ProRule annotation | ||
Glycosylationi | 206 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 284 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 326 ↔ 338 | PROSITE-ProRule annotation | ||
Disulfide bondi | 331 ↔ 344 | PROSITE-ProRule annotation | ||
Glycosylationi | 332 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 346 ↔ 360 | PROSITE-ProRule annotation | ||
Disulfide bondi | 367 ↔ 378 | PROSITE-ProRule annotation | ||
Disulfide bondi | 371 ↔ 389 | PROSITE-ProRule annotation | ||
Disulfide bondi | 391 ↔ 403 | PROSITE-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, GlycoproteinProteomic databases
jPOSTi | Q9H3R2 |
MassIVEi | Q9H3R2 |
MaxQBi | Q9H3R2 |
PaxDbi | Q9H3R2 |
PeptideAtlasi | Q9H3R2 |
PRIDEi | Q9H3R2 |
ProteomicsDBi | 80744 |
PTM databases
GlyGeni | Q9H3R2, 6 sites |
iPTMneti | Q9H3R2 |
PhosphoSitePlusi | Q9H3R2 |
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
Bgeei | ENSG00000173702, Expressed in duodenum and 152 other tissues |
ExpressionAtlasi | Q9H3R2, baseline and differential |
Genevisiblei | Q9H3R2, HS |
Organism-specific databases
HPAi | ENSG00000173702, Tissue enriched (intestine) |
Interactioni
Subunit structurei
Homodimer of beta subunits.
1 PublicationGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 121177, 20 interactors |
IntActi | Q9H3R2, 18 interactors |
STRINGi | 9606.ENSP00000485028 |
Miscellaneous databases
RNActi | Q9H3R2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 173 – 211 | EGF-like 1PROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 212 – 336 | SEAPROSITE-ProRule annotationAdd BLAST | 125 | |
Domaini | 322 – 361 | EGF-like 2PROSITE-ProRule annotationAdd BLAST | 40 | |
Domaini | 363 – 404 | EGF-like 3PROSITE-ProRule annotationAdd BLAST | 42 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 22 – 67 | DisorderedSequence analysisAdd BLAST | 46 | |
Regioni | 133 – 176 | DisorderedSequence analysisAdd BLAST | 44 | |
Regioni | 493 – 512 | DisorderedSequence analysisAdd BLAST | 20 |
Keywords - Domaini
EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S3PG, Eukaryota |
GeneTreei | ENSGT00940000154419 |
HOGENOMi | CLU_020534_1_0_1 |
InParanoidi | Q9H3R2 |
OMAi | GYQEDAN |
OrthoDBi | 1023611at2759 |
TreeFami | TF335941 |
Family and domain databases
InterProi | View protein in InterPro IPR000742, EGF-like_dom IPR009030, Growth_fac_rcpt_cys_sf IPR000082, SEA_dom |
Pfami | View protein in Pfam PF01390, SEA, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 3 hits |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS01186, EGF_2, 2 hits PS50026, EGF_3, 1 hit PS50024, SEA, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9H3R2-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9IZG1 | C9IZG1_HUMAN | Mucin-13 | MUC13 | 184 | Annotation score: |
Sequence cautioni
The sequence BAA90925 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 196 | F → I in BAA90925 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_056589 | 18 | A → V. Corresponds to variant dbSNP:rs4679394Ensembl. | 1 | |
Natural variantiVAR_063124 | 100 | I → T. Corresponds to variant dbSNP:rs4679392Ensembl. | 1 | |
Natural variantiVAR_056590 | 364 | S → G. Corresponds to variant dbSNP:rs16836185Ensembl. | 1 | |
Natural variantiVAR_056591 | 503 | R → 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. |
CCDSi | CCDS33839.2 |
RefSeqi | NP_149038.3, NM_033049.3 |
Genome annotation databases
Ensembli | ENST00000616727.4; ENSP00000485028.1; ENSG00000173702.7 |
GeneIDi | 56667 |
KEGGi | hsa:56667 |
MANE-Selecti | ENST00000616727.4; ENSP00000485028.1; NM_033049.4; NP_149038.3 |
UCSCi | uc032sai.1, human |
Similar proteinsi
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. |
CCDSi | CCDS33839.2 |
RefSeqi | NP_149038.3, NM_033049.3 |
3D structure databases
AlphaFoldDBi | Q9H3R2 |
SMRi | Q9H3R2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121177, 20 interactors |
IntActi | Q9H3R2, 18 interactors |
STRINGi | 9606.ENSP00000485028 |
PTM databases
GlyGeni | Q9H3R2, 6 sites |
iPTMneti | Q9H3R2 |
PhosphoSitePlusi | Q9H3R2 |
Genetic variation databases
BioMutai | MUC13 |
DMDMi | 296438300 |
Proteomic databases
jPOSTi | Q9H3R2 |
MassIVEi | Q9H3R2 |
MaxQBi | Q9H3R2 |
PaxDbi | Q9H3R2 |
PeptideAtlasi | Q9H3R2 |
PRIDEi | Q9H3R2 |
ProteomicsDBi | 80744 |
Protocols and materials databases
Antibodypediai | 33002, 341 antibodies from 31 providers |
DNASUi | 56667 |
Genome annotation databases
Ensembli | ENST00000616727.4; ENSP00000485028.1; ENSG00000173702.7 |
GeneIDi | 56667 |
KEGGi | hsa:56667 |
MANE-Selecti | ENST00000616727.4; ENSP00000485028.1; NM_033049.4; NP_149038.3 |
UCSCi | uc032sai.1, human |
Organism-specific databases
CTDi | 56667 |
DisGeNETi | 56667 |
GeneCardsi | MUC13 |
HGNCi | HGNC:7511, MUC13 |
HPAi | ENSG00000173702, Tissue enriched (intestine) |
MIMi | 612181, gene |
neXtProti | NX_Q9H3R2 |
OpenTargetsi | ENSG00000173702 |
PharmGKBi | PA31312 |
VEuPathDBi | HostDB:ENSG00000173702 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S3PG, Eukaryota |
GeneTreei | ENSGT00940000154419 |
HOGENOMi | CLU_020534_1_0_1 |
InParanoidi | Q9H3R2 |
OMAi | GYQEDAN |
OrthoDBi | 1023611at2759 |
TreeFami | TF335941 |
Enzyme and pathway databases
PathwayCommonsi | Q9H3R2 |
Reactomei | R-HSA-5083625, Defective GALNT3 causes HFTC R-HSA-5083632, Defective C1GALT1C1 causes TNPS R-HSA-5083636, Defective GALNT12 causes CRCS1 R-HSA-5621480, Dectin-2 family R-HSA-913709, O-linked glycosylation of mucins R-HSA-9696264, RND3 GTPase cycle R-HSA-9696270, RND2 GTPase cycle R-HSA-9696273, RND1 GTPase cycle R-HSA-977068, Termination of O-glycan biosynthesis |
SignaLinki | Q9H3R2 |
Miscellaneous databases
BioGRID-ORCSi | 56667, 4 hits in 248 CRISPR screens |
ChiTaRSi | MUC13, human |
GenomeRNAii | 56667 |
Pharosi | Q9H3R2, Tbio |
PROi | PR:Q9H3R2 |
RNActi | Q9H3R2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173702, Expressed in duodenum and 152 other tissues |
ExpressionAtlasi | Q9H3R2, baseline and differential |
Genevisiblei | Q9H3R2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000742, EGF-like_dom IPR009030, Growth_fac_rcpt_cys_sf IPR000082, SEA_dom |
Pfami | View protein in Pfam PF01390, SEA, 1 hit |
SMARTi | View protein in SMART SM00181, EGF, 3 hits |
SUPFAMi | SSF57184, SSF57184, 1 hit |
PROSITEi | View protein in PROSITE PS01186, EGF_2, 2 hits PS50026, EGF_3, 1 hit PS50024, SEA, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MUC13_HUMAN | |
Accessioni | Q9H3R2Primary (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: | May 25, 2022 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot