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Aliases for MUC17 Gene

Aliases for MUC17 Gene

  • Mucin 17, Cell Surface Associated 2 3 5
  • Small Intestinal Mucin-3 3 4
  • MUC-17 3 4
  • MUC-3 3 4
  • MUC3 3 4
  • Small Intestinal Mucin MUC3 3
  • Membrane Mucin MUC17 3
  • Secreted Mucin MUC17 3
  • EC 6.3.2.8 63
  • EC 3.1.3 63

External Ids for MUC17 Gene

Previous GeneCards Identifiers for MUC17 Gene

  • GC07P099168
  • GC07P100231
  • GC07P100235
  • GC07P100276
  • GC07P100450
  • GC07P100663
  • GC07P100022

Summaries for MUC17 Gene

Entrez Gene Summary for MUC17 Gene

  • 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]

GeneCards Summary for MUC17 Gene

MUC17 (Mucin 17, Cell Surface Associated) is a Protein Coding gene. Diseases associated with MUC17 include biliary papillomatosis and bile reflux. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include PDZ domain binding and extracellular matrix constituent, lubricant activity. An important paralog of this gene is MUC12.

UniProtKB/Swiss-Prot for MUC17 Gene

  • Probably plays a role in maintaining homeostasis on mucosal surfaces.

Gene Wiki entry for MUC17 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MUC17 Gene

Genomics for MUC17 Gene

Regulatory Elements for MUC17 Gene

Genomic Location for MUC17 Gene

Chromosome:
7
Start:
101,020,072 bp from pter
End:
101,058,859 bp from pter
Size:
38,788 bases
Orientation:
Plus strand

Genomic View for MUC17 Gene

Genes around MUC17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MUC17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MUC17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MUC17 Gene

Proteins for MUC17 Gene

  • Protein details for MUC17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q685J3-MUC17_HUMAN
    Recommended name:
    Mucin-17
    Protein Accession:
    Q685J3
    Secondary Accessions:
    • O14761
    • Q685J2
    • Q8TDH7

    Protein attributes for MUC17 Gene

    Size:
    4493 amino acids
    Molecular mass:
    451741 Da
    Quaternary structure:
    • Interacts via its C-terminus with PDZK1 and this interaction appears important for proper localization.

    Alternative splice isoforms for MUC17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MUC17 Gene

Proteomics data for MUC17 Gene at MOPED

Selected DME Specific Peptides for MUC17 Gene

Post-translational modifications for MUC17 Gene

  • N-glycosylated. Contains high mannose and complex-type glycans. The forms containing the complex type glycans localize to the cell surface. Not O-glycosylated.
  • Probably cleaved within the SEA domain.
  • Glycosylation at Ser 56, Asn 471, Asn 696, Asn 898, Asn 1345, Asn 2077, Asn 2194, Asn 3344, Asn 4116, Asn 4205, Asn 4236, Asn 4267, Asn 4297, and Asn 4305
  • Modification sites at PhosphoSitePlus

Other Protein References for MUC17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MUC17 Gene

Gene Families for MUC17 Gene

HGNC:

Protein Domains for MUC17 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MUC17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q685J3

UniProtKB/Swiss-Prot:

MUC17_HUMAN :
  • Contains 1 EGF-like domain.
Domain:
  • Contains 1 EGF-like domain.
  • Contains 1 SEA domain.
genes like me logo Genes that share domains with MUC17: view

Function for MUC17 Gene

Molecular function for MUC17 Gene

UniProtKB/Swiss-Prot Function:
Probably plays a role in maintaining homeostasis on mucosal surfaces.

Enzyme Numbers (IUBMB) for MUC17 Gene

Gene Ontology (GO) - Molecular Function for MUC17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17990980
genes like me logo Genes that share ontologies with MUC17: view
genes like me logo Genes that share phenotypes with MUC17: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MUC17 Gene

Localization for MUC17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MUC17 Gene

Isoform 1: Cell membrane; Single-pass membrane protein.
Isoform 2: Secreted. Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MUC17 Gene COMPARTMENTS Subcellular localization image for MUC17 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
extracellular 4
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MUC17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005796 Golgi lumen TAS --
GO:0009897 external side of plasma membrane IDA 12888891
genes like me logo Genes that share ontologies with MUC17: view

Pathways & Interactions for MUC17 Gene

genes like me logo Genes that share pathways with MUC17: view

Interacting Proteins for MUC17 Gene

Gene Ontology (GO) - Biological Process for MUC17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with MUC17: view

No data available for SIGNOR curated interactions for MUC17 Gene

Drugs & Compounds for MUC17 Gene

(1) Drugs for MUC17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MUC17: view

Transcripts for MUC17 Gene

Unigene Clusters for MUC17 Gene

Mucin 17, cell surface associated:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MUC17 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for MUC17 Gene

GeneLoc Exon Structure for
MUC17
ECgene alternative splicing isoforms for
MUC17

Expression for MUC17 Gene

mRNA expression in normal human tissues for MUC17 Gene

mRNA differential expression in normal tissues according to GTEx for MUC17 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x48.2).

Protein differential expression in normal tissues from HIPED for MUC17 Gene

This gene is overexpressed in Kidney (58.8) and Fetal gut (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MUC17 Gene



SOURCE GeneReport for Unigene cluster for MUC17 Gene Hs.271819

mRNA Expression by UniProt/SwissProt for MUC17 Gene

Q685J3-MUC17_HUMAN
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.
genes like me logo Genes that share expression patterns with MUC17: view

Protein tissue co-expression partners for MUC17 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MUC17 Gene

Orthologs for MUC17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MUC17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MUC17 35
  • 85.21 (n)
  • 73.23 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 18 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia MUC17 36
  • 20 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Muc3 36
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MUC17 36
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 29 (a)
ManyToMany
Species with no ortholog for MUC17:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MUC17 Gene

ENSEMBL:
Gene Tree for MUC17 (if available)
TreeFam:
Gene Tree for MUC17 (if available)

Paralogs for MUC17 Gene

Paralogs for MUC17 Gene

(2) SIMAP similar genes for MUC17 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MUC17: view

Variants for MUC17 Gene

Sequence variations from dbSNP and Humsavar for MUC17 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10229731 - 101,032,095(+) CCATG(A/C)AGGTG nc-transcript-variant, reference, missense
rs10259584 - 101,032,231(+) TAGTG(A/G)AGGAA nc-transcript-variant, reference, missense
rs10238201 - 101,034,242(+) GCTAG(A/C)ACACT nc-transcript-variant, reference, missense
rs4729646 - 101,034,361(+) AGGAA(C/T)GACTC nc-transcript-variant, reference, missense
rs4729647 - 101,034,805(+) CAGCA(C/G/T)ACCTG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MUC17 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
dgv2119e1 CNV Complex 17122850
dgv2120e1 CNV Complex 17122850
nsv428181 CNV Gain+Loss 18775914
nsv831074 CNV Loss 17160897
nsv5872 CNV Insertion 18451855
esv23580 CNV Gain 19812545
nsv820525 CNV Duplication 20802225
nsv8188 CNV Gain 18304495
esv2663086 CNV Deletion 23128226
dgv1156e201 CNV Deletion 23290073
dgv1157e201 CNV Deletion 23290073
esv2734915 CNV Deletion 23290073
esv2673265 CNV Deletion 23128226
nsv366275 CNV Loss 16902084
esv2734923 CNV Deletion 23290073
esv2669267 CNV Deletion 23128226
esv2734924 CNV Deletion 23290073
nsv366400 CNV Loss 16902084
dgv1229e199 CNV Deletion 23128226
nsv5873 CNV Insertion 18451855
nsv831075 CNV Loss 17160897

Variation tolerance for MUC17 Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.19; 95.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MUC17 Gene

HapMap Linkage Disequilibrium report
MUC17
Human Gene Mutation Database (HGMD)
MUC17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC17 Gene

Disorders for MUC17 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MUC17 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
biliary papillomatosis
  • bile duct papillomatosis
bile reflux
- elite association - COSMIC cancer census association via MalaCards
Search MUC17 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MUC17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MUC17
genes like me logo Genes that share disorders with MUC17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MUC17 Gene

Publications for MUC17 Gene

  1. MUC17, a novel membrane-tethered mucin. (PMID: 11855812) Gum J.R. Jr. … Kim Y.S. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 23 67
  2. Human intestinal MUC17 mucin augments intestinal cell restitution and enhances healing of experimental colitis. (PMID: 20211273) Luu Y. … Ho S.B. (Int. J. Biochem. Cell Biol. 2010) 3 23
  3. Carbachol-induced MUC17 endocytosis is concomitant with NHE3 internalization and CFTR membrane recruitment in enterocytes. (PMID: 23784542) Pelaseyed T. … Hansson G.C. (Am. J. Physiol., Cell Physiol. 2013) 3
  4. Expression of MUC17 is regulated by HIF1I+-mediated hypoxic responses and requires a methylation-free hypoxia responsible element in pancreatic cancer. (PMID: 22970168) Kitamoto S. … Yonezawa S. (PLoS ONE 2012) 3
  5. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. (PMID: 22990020) Huang J. … Hamsten A. (Blood 2012) 3

Products for MUC17 Gene

Sources for MUC17 Gene

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