Description: Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 2, mRNA. RefSeq Summary (NM_001018016): This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr1:155,158,300-155,162,706 Size: 4,407 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr1:155,158,611-155,162,056 Size: 3,446 Coding Exon Count: 6
Carcinoma|Stomach Neoplasms Qian Xu , et al. International journal of oncology 2009 35(6):1313-20, Risk of gastric cancer is associated with the MUC1 568 A/G polymorphism., International journal of oncology 2009 35(6):1313-20.
[PubMed 19885554]
gastritis Vinall, L. E. et al. 2002, Altered expression and allelic association of the hypervariable membrane mucin MUC1 in Helicobacter pylori gastritis, Gastroenterology. 2002 Jul;123(1):41-9.
[PubMed 12105832]
Our results suggest that H. pylori interacts with MUC1 and that there are functional allelic differences that affect susceptibility to gastritis.
gastritis; intestinal metaplasia Silva, F. et al. 2003, MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis., European journal of human genetics. 2003 May;11(5):380-4.
[PubMed 12734543]
Our study also shows that small MUC1 genotypes are associated with increased risk for IM development in Colombian patients.
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
ModBase Predicted Comparative 3D Structure on P15941-10
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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.
X52229 - Human mRNA for transmembrane epithelial tumour mucin antigen. E08764 - cDNA encoding C-terminal fragment of human glycoprotein 39. AH001451 - Homo sapiens episialin variant A precursor, mRNA, partial cds; and episialin-A mRNA mRNA, episialin variant A precursor, mRNA, partial cds. AH001452 - Homo sapiens episialin variant B precursor, mRNA, partial cds; and episialin-B mRNA mRNA, episialin variant B precursor, mRNA, partial cds. J05581 - Human polymorphic epithelial mucin (PEM) mRNA, complete cds. J05582 - Human pancreatic mucin mRNA, complete cds. AY327587 - Homo sapiens MUC1/Y (MUC1) mRNA, complete cds. AY327588 - Homo sapiens mucin short variant G (MUC1) mRNA, complete cds. AY327596 - Homo sapiens mucin short variant SV7 (MUC1) mRNA, complete cds. EF583642 - Homo sapiens MUC1 isoform T1 (MUC1) mRNA, complete cds. EF583643 - Homo sapiens MUC1 isoform T2 (MUC1) mRNA, complete cds. EF583644 - Homo sapiens MUC1 isoform T3 (MUC1) mRNA, complete cds. EF583645 - Homo sapiens MUC1 isoform T4 (MUC1) mRNA, complete cds. EF583646 - Homo sapiens MUC1 isoform T5 (MUC1) mRNA, complete cds. EF583647 - Homo sapiens MUC1 isoform Z-LSP (MUC1) mRNA, complete cds. EF583648 - Homo sapiens MUC1 isoform T6 (MUC1) mRNA, complete cds. EF583649 - Homo sapiens MUC1 isoform T7 (MUC1) mRNA, complete cds. EF583650 - Homo sapiens MUC1 isoform T8 (MUC1) mRNA, complete cds. EF583651 - Homo sapiens MUC1 isoform T9 (MUC1) mRNA, complete cds. EF583652 - Homo sapiens MUC1 isoform G-LSP (MUC1) mRNA, complete cds. EF583653 - Homo sapiens MUC1 isoform T10 (MUC1) mRNA, complete cds. EF583654 - Homo sapiens MUC1 isoform T11 (MUC1) mRNA, complete cds. EF583655 - Homo sapiens MUC1 isoform T12 (MUC1) mRNA, complete cds. EF583656 - Homo sapiens MUC1 isoform T13 (MUC1) mRNA, complete cds. EF670706 - Homo sapiens MUC1 isoform M1 (MUC1) mRNA, complete cds. EF670707 - Homo sapiens MUC1 isoform M2 (MUC1) mRNA, complete cds. EF670708 - Homo sapiens MUC1 isoform M3 (MUC1) mRNA, complete cds. EF670709 - Homo sapiens MUC1 isoform M4 (MUC1) mRNA, complete cds. EF670710 - Homo sapiens MUC1 isoform M5 (MUC1) mRNA, complete cds. EF670711 - Homo sapiens MUC1 isoform M6 (MUC1) mRNA, complete cds. EF670712 - Homo sapiens MUC1 isoform M7 (MUC1) mRNA, complete cds. EF670713 - Homo sapiens MUC1 isoform SV4-LSP (MUC1) mRNA, complete cds. EF670714 - Homo sapiens MUC1 isoform M8 (MUC1) mRNA, complete cds. EF670715 - Homo sapiens MUC1 isoform M9 (MUC1) mRNA, complete cds. EF670716 - Homo sapiens MUC1 isoform M10 (MUC1) mRNA, complete cds. EF670717 - Homo sapiens MUC1 isoform M11 (MUC1) mRNA, complete cds. EF670718 - Homo sapiens MUC1 isoform S-LSP (MUC1) mRNA, complete cds. EF670719 - Homo sapiens MUC1 isoform M12 (MUC1) mRNA, complete cds. EF670720 - Homo sapiens MUC1 isoform M13 (MUC1) mRNA, complete cds. EF670721 - Homo sapiens MUC1 isoform M14 (MUC1) mRNA, complete cds. EF670722 - Homo sapiens MUC1 isoform M15 (MUC1) mRNA, complete cds. EF670723 - Homo sapiens MUC1 isoform M16 (MUC1) mRNA, complete cds. FJ226028 - Homo sapiens MUC1 isoform J1 (MUC1) mRNA, complete cds. FJ226029 - Homo sapiens MUC1 isoform J2 (MUC1) mRNA, complete cds. FJ226030 - Homo sapiens MUC1 isoform J3 (MUC1) mRNA, complete cds. FJ226031 - Homo sapiens MUC1 isoform J4 (MUC1) mRNA, complete cds. FJ226032 - Homo sapiens MUC1 isoform J5 (MUC1) mRNA, complete cds. FJ226033 - Homo sapiens MUC1 isoform J6 (MUC1) mRNA, complete cds. FJ226034 - Homo sapiens MUC1 isoform J7 (MUC1) mRNA, complete cds. FJ226035 - Homo sapiens MUC1 isoform J8 (MUC1) mRNA, complete cds. FJ226036 - Homo sapiens MUC1 isoform J9 (MUC1) mRNA, complete cds. FJ226037 - Homo sapiens MUC1 isoform J10 (MUC1) mRNA, complete cds. FJ226038 - Homo sapiens MUC1 isoform J11 (MUC1) mRNA, complete cds. FJ226039 - Homo sapiens MUC1 isoform J12 (MUC1) mRNA, complete cds. FJ226040 - Homo sapiens MUC1 isoform J13 (MUC1) mRNA, complete cds. FJ226041 - Homo sapiens MUC1 isoform SV7-LSP (MUC1) mRNA, complete cds. FJ226042 - Homo sapiens MUC1 isoform J14 (MUC1) mRNA, complete cds. FJ226043 - Homo sapiens MUC1 isoform J15 (MUC1) mRNA, complete cds. FJ226044 - Homo sapiens MUC1 isoform J16 (MUC1) mRNA, complete cds. FJ226045 - Homo sapiens MUC1 isoform J17 (MUC1) mRNA, complete cds. FJ226046 - Homo sapiens MUC1 isoform J18 (MUC1) mRNA, complete cds. FJ226047 - Homo sapiens MUC1 isoform J19 (MUC1) mRNA, complete cds. FJ226049 - Homo sapiens MUC1 isoform J20 (MUC1) mRNA, complete cds. FJ226050 - Homo sapiens MUC1 isoform J21 (MUC1) mRNA, complete cds. FJ226051 - Homo sapiens MUC1 isoform J22 (MUC1) mRNA, complete cds. FJ226052 - Homo sapiens MUC1 isoform J23 (MUC1) mRNA, complete cds. FJ226053 - Homo sapiens MUC1 isoform J24 (MUC1) mRNA, complete cds. FJ226054 - Homo sapiens MUC1 isoform J25 (MUC1) mRNA, complete cds. FJ226055 - Homo sapiens MUC1 isoform J26 (MUC1) mRNA, complete cds. AK301575 - Homo sapiens cDNA FLJ60927 complete cds, highly similar to Mucin-1 precursor. BC120974 - Homo sapiens mucin 1, cell surface associated, mRNA (cDNA clone MGC:149467 IMAGE:40115473), complete cds. BC120975 - Homo sapiens mucin 1, cell surface associated, mRNA (cDNA clone MGC:149468 IMAGE:40115475), complete cds. A32135 - H.sapiens mammary carcinoma H23-ETA transmembrane antigen. AF348143 - Homo sapiens mucin short variant (MUC1) mRNA, complete cds. AY327582 - Homo sapiens mucin short variant F (MUC1) mRNA, complete cds. AY327583 - Homo sapiens mucin short variant S1 (MUC1) mRNA, complete cds. AY327584 - Homo sapiens mucin short variant S2 (MUC1) mRNA, complete cds. AY327585 - Homo sapiens mucin short variant E1 (MUC1) mRNA, complete cds. AY327586 - Homo sapiens mucin short variant E2 (MUC1) mRNA, complete cds. AY327589 - Homo sapiens mucin short variant SV1 (MUC1) mRNA, complete cds. AY327590 - Homo sapiens mucin short variant SV2 (MUC1) mRNA, complete cds. AY327591 - Homo sapiens mucin short variant SV3 (MUC1) mRNA, complete cds. AY327592 - Homo sapiens mucin short variant SV4 (MUC1) mRNA, complete cds. AY327595 - Homo sapiens mucin short variant SV8 (MUC1) mRNA, complete cds. AY327597 - Homo sapiens mucin short variant PC1 (MUC1) mRNA, complete cds. AY327598 - Homo sapiens mucin short variant PC2 (MUC1) mRNA, complete cds. AY327599 - Homo sapiens mucin short variant SV9 (MUC1) mRNA, complete cds. AY327600 - Homo sapiens mucin short variant SV10 (MUC1) mRNA, complete cds. U60259 - Human MUC-1/X mucin short variant mRNA, complete cds. U60260 - Human MUC-1/Y mucin short variant mRNA, complete cds. U60261 - Human MUC-1/Z mucin short variant mRNA, complete cds. AF125525 - Homo sapiens MUC1/Y mucin precursor (MUC1) mRNA, complete cds. GQ891326 - Homo sapiens clone HEL-S-57b epididymis secretory sperm binding protein mRNA, complete cds. X80761 - H.sapiens Muc1 mRNA. KJ891656 - Synthetic construct Homo sapiens clone ccsbBroadEn_01050 MUC1 gene, encodes complete protein. KJ897209 - Synthetic construct Homo sapiens clone ccsbBroadEn_06603 MUC1 gene, encodes complete protein. X52228 - Human mRNA for secreted epithelial tumour mucin antigen. A32137 - H.sapiens mammary carcinoma H23-ETA soluble antigen. AY466157 - Homo sapiens MUC1/ZD precursor, mRNA, complete cds. M31823 - Human breast carcinoma-associated antigen DF3 mRNA, 5' end. S81781 - MUC1 {alternatively spliced} [human, thyroid, thyroid papillary-carcinoma patient, mRNA Partial Mutant, 336 nt]. S81736 - MUC1=mucin glycoprotein {5' region} [human, lung adenocarcinoma cell line CL3, mRNA Partial, 293 nt]. DM075090 - MODULATION OF MUC1 ACTIVITY. DM075091 - MODULATION OF MUC1 ACTIVITY. Z17324 - Homo sapiens of MUC1 gene encoding Mucin. Z17325 - Homo sapiens of MUC1 gene encoding Mucin. JD365534 - Sequence 346558 from Patent EP1572962. JD123257 - Sequence 104281 from Patent EP1572962. JD309674 - Sequence 290698 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P15941 (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-914010 Addition of GlcNAc to the Tn antigen forms a Core 3 glycoprotein R-HSA-977071 Sialyltransferase I can add sialic acid to the Tn 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-1964501 Addition of galactose to Core 6 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-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-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-6785807 Interleukin-4 and 13 signaling R-HSA-5621480 Dectin-2 family R-HSA-5173105 O-linked glycosylation R-HSA-3906995 Diseases associated with O-glycosylation of proteins R-HSA-449147 Signaling by Interleukins R-HSA-5621481 C-type lectin receptors (CLRs) R-HSA-597592 Post-translational protein modification R-HSA-3781865 Diseases of glycosylation R-HSA-1280215 Cytokine Signaling in Immune system R-HSA-168249 Innate Immune System R-HSA-392499 Metabolism of proteins R-HSA-1643685 Disease R-HSA-168256 Immune System