Human Gene MUC17 (ENST00000306151.9) Description and Page Index
  Description: Homo sapiens mucin 17, cell surface associated (MUC17), transcript variant 1, mRNA. (from RefSeq NM_001040105)
RefSeq Summary (NM_001040105): The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015].
Gencode Transcript: ENST00000306151.9
Gencode Gene: ENSG00000169876.14
Transcript (Including UTRs)
   Position: hg38 chr7:101,020,081-101,058,859 Size: 38,779 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr7:101,020,136-101,058,044 Size: 37,909 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:101,020,081-101,058,859)mRNA (may differ from genome)Protein (4493 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MUC17_HUMAN
DESCRIPTION: RecName: Full=Mucin-17; Short=MUC-17; AltName: Full=Small intestinal mucin-3; Short=MUC-3; Flags: Precursor;
FUNCTION: Probably plays a role in maintaining homeostasis on mucosal surfaces.
SUBUNIT: Interacts via its C-terminus with PDZK1 and this interaction appears important for proper localization.
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted (Probable). Cell membrane.
TISSUE SPECIFICITY: Expressed almost exclusively in the intestine. Expression is especially high in both the duodenum and transverse colon. Expressed in mature absorptive cells of the small intestinal villi. No expression is detected in goblet cells. Highly expressed in pancreatic adenocarcinoma tissue (at protein level). Expression is not detectable in normal pancreas, in pancreatitis or in cell lines derived from other cancers.
PTM: Probably cleaved within the SEA domain.
PTM: N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 SEA domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/MUC17ID41456ch7q22.html";
WEB RESOURCE: Name=Mucin database; URL="http://www.medkem.gu.se/mucinbiology/databases/";

-  MalaCards Disease Associations
  MalaCards Gene Search: MUC17
Diseases sorted by gene-association score: biliary papillomatosis (12), colorectal cancer 1 (6)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.56 RPKM in Small Intestine - Terminal Ileum
Total median expression: 36.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.4055-0.225 Picture PostScript Text
3' UTR -234.90815-0.288 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

ModBase Predicted Comparative 3D Structure on Q685J3
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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030165 PDZ domain binding
GO:0030197 extracellular matrix constituent, lubricant activity

Biological Process:
GO:0002223 stimulatory C-type lectin receptor signaling pathway
GO:0016266 O-glycan processing
GO:0019725 cellular homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AJ606307 - Homo sapiens mRNA for membrane mucin MUC17 (MUC17 gene).
AJ606308 - Homo sapiens mRNA for secreted mucin MUC17 (MUC17 gene).
BC126315 - Homo sapiens mucin 17, cell surface associated, mRNA (cDNA clone IMAGE:8992031), partial cds.
AF430017 - Homo sapiens intestinal membrane mucin MUC17 (MUC17) mRNA, partial cds.
AK026404 - Homo sapiens cDNA: FLJ22751 fis, clone KAIA0483, highly similar to AF016692 Homo sapiens small intestinal mucin (MUC3) mRNA.
DQ573703 - Homo sapiens piRNA piR-41815, complete sequence.
DQ600556 - Homo sapiens piRNA piR-38622, complete sequence.
AF016694 - Homo sapiens small intestinal mucin (MUC3) mRNA, partial cds.
AF016693 - Homo sapiens small intestinal mucin (MUC3) mRNA, partial cds.
DQ600556 - Homo sapiens piRNA piR-38622, complete sequence.
DQ600556 - Homo sapiens piRNA piR-38622, complete sequence.
DQ600556 - Homo sapiens piRNA piR-38622, complete sequence.
AF016692 - Homo sapiens small intestinal mucin (MUC3) mRNA, partial cds.
JD127537 - Sequence 108561 from Patent EP1572962.
JD175770 - Sequence 156794 from Patent EP1572962.
JD226884 - Sequence 207908 from Patent EP1572962.
JD237192 - Sequence 218216 from Patent EP1572962.
JD378975 - Sequence 359999 from Patent EP1572962.
JD061487 - Sequence 42511 from Patent EP1572962.
JD361769 - Sequence 342793 from Patent EP1572962.
JD219260 - Sequence 200284 from Patent EP1572962.
JD486380 - Sequence 467404 from Patent EP1572962.
JD091950 - Sequence 72974 from Patent EP1572962.
JD147938 - Sequence 128962 from Patent EP1572962.
JD339225 - Sequence 320249 from Patent EP1572962.
JD044797 - Sequence 25821 from Patent EP1572962.
JD049662 - Sequence 30686 from Patent EP1572962.
JD414119 - Sequence 395143 from Patent EP1572962.
JD103815 - Sequence 84839 from Patent EP1572962.
JD090843 - Sequence 71867 from Patent EP1572962.
JD386382 - Sequence 367406 from Patent EP1572962.
JD510077 - Sequence 491101 from Patent EP1572962.
JD350888 - Sequence 331912 from Patent EP1572962.
JD305372 - Sequence 286396 from Patent EP1572962.

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

Protein Q685J3 (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-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-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-5694487 A4GNT transfers GlcNAc to core 2 mucins
R-HSA-6786012 CHST4 transfers SO4(2-) from PAPS to Core 2 mucins
R-HSA-1964501 Addition of galactose to Core 6 glycoprotein
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: MUC17_HUMAN, MUC3, NM_001040105, O14761, Q685J2, Q685J3, Q8TDH7, uc003uxp.1, uc003uxp.2, uc003uxp.3
UCSC ID: uc003uxp.3
RefSeq Accession: NM_001040105
Protein: Q685J3 (aka MUC17_HUMAN)
CCDS: CCDS34711.1

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