Human Gene MUC13 (ENST00000616727.4_11) from GENCODE V47lift37
  Description: mucin 13, cell surface associated (from RefSeq NM_033049.4)
Gencode Transcript: ENST00000616727.4_11
Gencode Gene: ENSG00000173702.7_12
Transcript (Including UTRs)
   Position: hg19 chr3:124,624,289-124,653,595 Size: 29,307 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr3:124,626,994-124,653,556 Size: 26,563 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:124,624,289-124,653,595)mRNA (may differ from genome)Protein (511 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MUC13_HUMAN
DESCRIPTION: RecName: Full=Mucin-13; Short=MUC-13; AltName: Full=Down-regulated in colon cancer 1; Flags: Precursor;
FUNCTION: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.
SUBUNIT: Homodimer of beta subunits.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Apical cell membrane. Secreted. Note=Also exists as a soluble form.
TISSUE SPECIFICITY: 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.
PTM: 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.
PTM: Highly N-glycosylated.
SIMILARITY: Contains 3 EGF-like domains.
SIMILARITY: Contains 1 SEA domain.
SEQUENCE CAUTION: Sequence=BAA90925.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MUC13
Diseases sorted by gene-association score: purulent endophthalmitis (16), colorectal cancer 1 (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.5039-0.038 Picture PostScript Text
3' UTR -414.501301-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR000082 - SEA

Pfam Domains:
PF01390 - SEA domain

SCOP Domains:
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on Q9H3R2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0042803 protein homodimerization activity

Biological Process:
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0016266 O-glycan processing
GO:0030277 maintenance of gastrointestinal epithelium

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AF286113 - Homo sapiens transmembrane mucin MUC13 (MUC13) mRNA, complete cds.
AB035807 - Homo sapiens DRCC1 mRNA for down-regulated in colon cancer 1, complete cds.
AY358831 - Homo sapiens clone DNA142930 MUC13 (UNQ6194) mRNA, complete cds.
BC172322 - Synthetic construct Homo sapiens clone IMAGE:100069016, MGC:199027 mucin 13, cell surface associated (MUC13) mRNA, encodes complete protein.
AK000070 - Homo sapiens cDNA FLJ20063 fis, clone COL01524.
JD097083 - Sequence 78107 from Patent EP1572962.
JD414628 - Sequence 395652 from Patent EP1572962.
JD220692 - Sequence 201716 from Patent EP1572962.
JD373370 - Sequence 354394 from Patent EP1572962.
JD166056 - Sequence 147080 from Patent EP1572962.
JD545073 - Sequence 526097 from Patent EP1572962.
JD178854 - Sequence 159878 from Patent EP1572962.
JD087930 - Sequence 68954 from Patent EP1572962.
JD426882 - Sequence 407906 from Patent EP1572962.
JD538711 - Sequence 519735 from Patent EP1572962.
JD354535 - Sequence 335559 from Patent EP1572962.
JD049064 - Sequence 30088 from Patent EP1572962.
JD436202 - Sequence 417226 from Patent EP1572962.
JD131454 - Sequence 112478 from Patent EP1572962.
JD459824 - Sequence 440848 from Patent EP1572962.
JD104312 - Sequence 85336 from Patent EP1572962.
JD166649 - Sequence 147673 from Patent EP1572962.
JD253034 - Sequence 234058 from Patent EP1572962.
JD050044 - Sequence 31068 from Patent EP1572962.
JD224729 - Sequence 205753 from Patent EP1572962.
JD312815 - Sequence 293839 from Patent EP1572962.
JD204555 - Sequence 185579 from Patent EP1572962.
JD496373 - Sequence 477397 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H3R2 (Reactome details) participates in the following event(s):

R-HSA-913675 GALNTs transfer GalNAc from UDP-GalNAc to mucins to form Tn antigens
R-HSA-914018 Addition of GlcNAc to Core 3 forms a Core 4 glycoprotein
R-HSA-914010 Addition of GlcNAc to the Tn antigen forms a Core 3 glycoprotein
R-HSA-1964501 Addition of galactose to Core 6 glycoprotein
R-HSA-914012 GCNTs transfer GlcNAc from UDP-GlcNAc to Core 1 mucins
R-HSA-977228 Sialyltransferase I can add sialic acid to the T antigen at the alpha 6 position
R-HSA-981497 ST3GAL1-4 can add a sialic acid to the T antigen at the alpha 3 position
R-HSA-981814 GalNAc alpha-2,6-sialyltransferase II can add a sialic acid to the T antigen at the alpha 6 position
R-HSA-1964505 C1GALT1 transfers Galactose to the Tn antigen forming Core 1 glycoproteins (T antigens)
R-HSA-5694487 A4GNT transfers GlcNAc to core 2 mucins
R-HSA-6786012 CHST4 transfers SO4(2-) from PAPS to Core 2 mucins
R-HSA-977071 Sialyltransferase I can add sialic acid to the Tn antigen at the alpha 6 position
R-HSA-981809 ST6GALNAC3/4 can add a sialic acid to the sialyl T antigen to form the disialyl T antigen
R-HSA-8858500 CLEC10A binds Tn-MUC1
R-HSA-913709 O-linked glycosylation of mucins
R-HSA-5083636 Defective GALNT12 causes colorectal cancer 1 (CRCS1)
R-HSA-5083625 Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
R-HSA-977068 Termination of O-glycan biosynthesis
R-HSA-5083632 Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
R-HSA-5621480 Dectin-2 family
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-168249 Innate Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: DRCC1, ENST00000616727.1, ENST00000616727.2, ENST00000616727.3, MUC13_HUMAN, NM_033049, Q6UWD9, Q9H3R2, Q9NXT5, RECC, uc327qrc.1, uc327qrc.2, UNQ6194/PRO20221
UCSC ID: ENST00000616727.4_11
RefSeq Accession: NM_033049.4
Protein: Q9H3R2 (aka MUC13_HUMAN or MU13_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.