Aliases for MUC17 Gene
Aliases for MUC17 Gene
External Ids for MUC17 Gene
- HGNC: 16800
- Entrez Gene: 140453
- Ensembl: ENSG00000169876
- OMIM: 608424
- UniProtKB: Q685J3
Previous GeneCards Identifiers for MUC17 Gene
- GC07P099168
- GC07P100231
- GC07P100235
- GC07P100276
- GC07P100450
- GC07P100663
- GC07P100022
Summaries 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. Among its related pathways are Diseases associated with O-glycosylation of proteins and Defective GALNT12 causes colorectal cancer 1 (CRCS1). 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.
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
Enhancers for MUC17 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around MUC17 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MUC17 gene promoter:
Regulatory Element Products
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:
-
- 7q22.1 by Ensembl
- 7q22.1 by Entrez Gene
- 7q22 by HGNC
MUC17 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibody Products
- Novus Biologicals Antibodies for MUC17
- Abcam antibodies for MUC17
-
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- Search GeneTex for Antibodies for MUC17
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Protein Products
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-
Cloud-Clone Corp. Proteins for MUC17
- Search GeneTex for Proteins for MUC17
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- Domain:
-
- Contains 1 EGF-like domain.
- Contains 1 SEA domain.
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
- EC 6.3.2.8 63
- EC 3.1.3 63
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17990980 |
Phenotypes for MUC17 Gene
- GenomeRNAi human phenotypes for MUC17:
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for MUC17 gene
-
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CRISPR Products
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-
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miRNA for MUC17 Gene
- miRTarBase miRNAs that target MUC17
-
- hsa-mir-17-5p (MIRT004710)
- hsa-mir-20a-5p (MIRT004711)
- hsa-mir-20b-5p (MIRT004712)
- hsa-mir-30c-5p (MIRT004714)
- hsa-mir-30e-5p (MIRT004715)
- hsa-mir-132-3p (MIRT021736)
- hsa-mir-6819-5p (MIRT459461)
- hsa-mir-6812-5p (MIRT459462)
- hsa-mir-6737-5p (MIRT459463)
- hsa-mir-6747-5p (MIRT459464)
- hsa-mir-608 (MIRT459465)
- hsa-mir-4651 (MIRT459466)
- hsa-mir-4664-5p (MIRT459467)
- hsa-mir-342-5p (MIRT459468)
- hsa-mir-8053 (MIRT459469)
- hsa-mir-8073 (MIRT459470)
- hsa-mir-6717-5p (MIRT459471)
- hsa-mir-221-5p (MIRT459472)
- hsa-mir-6890-5p (MIRT459473)
- hsa-mir-629-3p (MIRT723787)
- hsa-mir-6818-3p (MIRT723788)
- hsa-mir-4279 (MIRT723789)
- hsa-mir-6881-3p (MIRT723790)
- hsa-mir-593-3p (MIRT723791)
- hsa-mir-6895-3p (MIRT723792)
- hsa-mir-6876-3p (MIRT723793)
- hsa-mir-626 (MIRT723794)
- hsa-mir-130b-5p (MIRT723795)
- hsa-mir-6845-3p (MIRT723796)
- hsa-mir-877-3p (MIRT723797)
miRNA Products
- Search ViGene Biosciences for MUC17
Inhibitory RNA Products
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Cell Line Products
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ViGene Biosciences adenoviral particle packaged cDNA for MUC17 gene
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 5 |
| extracellular | 4 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005796 | Golgi lumen | TAS | -- |
| GO:0009897 | external side of plasma membrane | IDA | 12888891 |
Pathways & Interactions for MUC17 Gene
More details on SuperPathways for MUC17Pathways by source for MUC17 Gene
Interacting Proteins for MUC17 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016266 | O-glycan processing | TAS | -- |
No data available for SIGNOR curated interactions for MUC17 Gene
Transcripts for MUC17 Gene
mRNA/cDNA for MUC17 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (50) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MUC17 Gene
- Mucin 17, cell surface associated:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MUC17
-
Santa Cruz Biotechnology (SCBT) CRISPR for MUC17
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - |
Expression 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).
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.
Primer Products
-
OriGene qPCR primer pairs for MUC17
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MUC17 35 |
|
||
| cow (Bos Taurus) |
Mammalia | -- 36 |
|
ManyToMany | |
| dog (Canis familiaris) |
Mammalia | MUC17 36 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MUC17 36 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Muc3 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 36 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 36 |
|
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)
Paralogs for MUC17 Gene
(2) SIMAP similar genes for MUC17 Gene using alignment to 3 proteins:
Variants 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 |
| 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 |
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
- Human Gene Mutation Database (HGMD)
- MUC17
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MUC17 Gene
Disorders for MUC17 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| biliary papillomatosis |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for MUC17 Gene
Publications for MUC17 Gene
- 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
- 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
- Genetic variations of MUC17 are associated with endometriosis development and related infertility. (PMID: 26285705) Yang C.W. … Tsai F.J. (BMC Med. Genet. 2015) 3
- RNA sequencing of sessile serrated colon polyps identifies differentially expressed genes and immunohistochemical markers. (PMID: 24533081) Delker D.A. … Hagedorn C.H. (PLoS ONE 2014) 3
- Three-dimensional intestinal villi epithelium enhances protection of human intestinal cells from bacterial infection by inducing mucin expression. (PMID: 25200891) Kim S.H. … Sung J.H. (Integr Biol (Camb) 2014) 3
Products for MUC17 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for MUC17 gene
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Sources for MUC17 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
- (102) BioSystems
- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
- (125) DGIdb
- (126) ClinicalTrials
- (127) FDA Approved Drugs
- (128) RVIS
- (129) SIGNOR
- (130) diseasecard
- (131) NIH Rare Diseases
- (132) Orphanet
- (133) UMLS
- (134) GTR
- (135) Disease Ontology
- (136) Genetics Home Reference
- (137) MeSH
- (138) MedlinePlus
- (139) CDC
- (140) NINDS
- (141) NCBI Bookshelf
- (142) ClinVar
- (143) Gene Damage Index
- (144) ViGene Biosciences
- (145) HPO
- (146) UDN
- (147) VISTA
- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon