MUC1;PUM

Mucin-1 (MUC-1) (Breast carcinoma-associated antigen DF3) (Cancer antigen 15-3) (CA 15-3) (Carcinoma-associated mucin) (Episialin) (H23AG) (Krebs von den Lungen-6) (KL-6) (PEMT) (Peanut-reactive urinary mucin) (PUM) (Polymorphic epithelial mucin) (PEM) (Tumor-associated epithelial membrane antigen) (EMA) (Tumor-associated mucin) (CD antigen CD227) [Cleaved into: Mucin-1 subunit alpha (MUC1-NT) (MUC1-alpha); Mucin-1 subunit beta (MUC1-beta) (MUC1-CT)]

Homo sapiens (Human)

122102

1255

N/A

Mucin-1 (MUC-1) (Breast carcinoma-associated antigen DF3) (Cancer antigen 15-3) (CA 15-3) (Carcinoma-associated mucin) (Episialin) (H23AG) (Krebs von den Lungen-6) (KL-6) (PEMT) (Peanut-reactive urinary mucin) (PUM) (Polymorphic epithelial mucin) (PEM) (Tumor-associated epithelial membrane antigen) (EMA) (Tumor-associated mucin) (CD antigen CD227) [Cleaved into: Mucin-1 subunit alpha (MUC1-NT) (MUC1-alpha); Mucin-1 subunit beta (MUC1-beta) (MUC1-CT)]

Note=MUC1/CA 15-3 is used as a serological clinical marker of breast cancer to monitor response to breast cancer treatment and disease recurrence (PubMed:20816948). Decreased levels over time may be indicative of a positive response to treatment. Conversely, increased levels may indicate disease progression. At an early stage disease, only 21% of patients exhibit high MUC1/CA 15-3 levels, that is why CA 15-3 is not a useful screening test. Most antibodies target the highly immunodominant core peptide domain of 20 amino acid (APDTRPAPGSTAPPAHGVTS) tandem repeats. Some antibodies recognize glycosylated epitopes. {ECO:0000269|PubMed:20816948}.; Medullary cystic kidney disease 1 (MCKD1) [MIM:174000]: A form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. {ECO:0000269|PubMed:23396133}. Note=The disease is caused by mutations affecting the gene represented in this entry.

MUTAGEN 1098 1098 S->A,D,E,F,G,H,I,K,L,M,N,P,Q,R,V,W,Y: Completely abrogates cleavage. {ECO:0000269|PubMed:15987679}.; MUTAGEN 1098 1098 S->C,T: Almost complete cleavage. {ECO:0000269|PubMed:15987679}.; MUTAGEN 1116 1116 D->A: Greatly reduced formation of isoform 5/isoform Y complex. {ECO:0000269|PubMed:10197628}.; MUTAGEN 1116 1116 D->E: No effect on formation of isoform 5/isoform Y complex. {ECO:0000269|PubMed:10197628}.; MUTAGEN 1184 1184 C->A: S-palmitoylation reduced by 50%. Complete loss of palmitoylation, no effect on endocytosis, recycling inhibited and AP1S1 binding reduced by 30%; when associated with C-1186. Accumulates in intracellular compartments; when associated with C-1186 and N-1203. {ECO:0000269|PubMed:16507569}.; MUTAGEN 1186 1186 C->A: S-palmitoylation reduced by 50%. Complete loss of palmitoylation, no effect on endocytosis, recycling inhibited, and AP1S1 binding reduced by 30%; when associated with C-1184. Accumulates in intracellular compartments; when associated with C-1184 and N-1203. {ECO:0000269|PubMed:16507569}.; MUTAGEN 1187 1189 RRK->AAA: No nuclear targeting of HRG-stimulated MUC1 C-terminal nor JUP/gamma-catenin. No effect on interaction with JUP/gamma-catenin. {ECO:0000269|PubMed:12939402, ECO:0000269|PubMed:16507569}.; MUTAGEN 1187 1189 RRK->QQQ: No effect on palmitoylation. {ECO:0000269|PubMed:12939402, ECO:0000269|PubMed:16507569}.; MUTAGEN 1191 1191 Y->F: No effect on EGFR-mediated phosphorylation. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:15471854}.; MUTAGEN 1191 1191 Y->N: No effect on endocytosis. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:15471854}.; MUTAGEN 1203 1203 Y->E: No effect on nuclear colocalization of MUC1CT and CTNNB1. No effect on in vitro PDFGR-induced cell invasiveness. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:15471854, ECO:0000269|PubMed:16507569, ECO:0000269|PubMed:17545600}.; MUTAGEN 1203 1203 Y->F: No effect on EGFR-mediated phosphorylation. No nuclear localization of MUC1CT. Reduced in vitro PDGFR-induced cell invasiveness. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:15471854, ECO:0000269|PubMed:16507569, ECO:0000269|PubMed:17545600}.; MUTAGEN 1203 1203 Y->N: Reduced endocytosis by 30%. Greatly reduced binding to AP1S2 and GRB2. Binding AP1S1 reduced by 25%. Reduced endocytosis by 77%; when associated with N-1243. Accumulates in intracellular compartments; when associated with C-1184 and C-1186. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:15471854, ECO:0000269|PubMed:16507569, ECO:0000269|PubMed:17545600}.; MUTAGEN 1209 1209 Y->F: Some reduction in EGFR-mediated phosphorylation. {ECO:0000269|PubMed:11483589}.; MUTAGEN 1218 1218 Y->F: No effect on EGFR-mediated phosphorylation. No nuclear colocalization of MUC1CT and CTNNB1. {ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:17545600}.; MUTAGEN 1223 1223 S->A: No change in PRKCD- nor GSK3B-mediated phosphorylation. {ECO:0000269|PubMed:11877440, ECO:0000269|PubMed:9819408}.; MUTAGEN 1224 1224 T->A: Loss of PRKCD-mediated phosphorylation. Decreased PRKCD binding. No increased binding to CTNNB1 in the presence of autophosphorylated PRKCD. Increases formation of E-cadherin/beta-catenin complex. {ECO:0000269|PubMed:11877440}.; MUTAGEN 1227 1227 S->A: No change in PRKCD-mediated phosphorylation. Loss of GSK3B-mediated phosphorylation. CTNNB1. {ECO:0000269|PubMed:11877440, ECO:0000269|PubMed:9819408}.; MUTAGEN 1229 1229 Y->F: Greatly reduced EGFR- and Src-mediated phosphorylation. No nuclear localization of MUC1CT. Reduced in vitro PDGFR-mediated phosphorylation. Decreased Src-binding. {ECO:0000269|PubMed:11152665, ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:14688481, ECO:0000269|PubMed:15471854}.; MUTAGEN 1229 1229 Y->N: No effect on endocytosis. {ECO:0000269|PubMed:11152665, ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:14688481, ECO:0000269|PubMed:15471854}.; MUTAGEN 1243 1243 Y->N: Reduces binding to AP1S2 by 33%. Greatly reduced binding to GRB2. Reduced endocytosis by 50%. Reduced endocytosis by 77%; when associated with N-1203. {ECO:0000269|PubMed:15471854}.

MTPGTQSPFFLLLLLTVLTVVTGSGHASSTPGGEKETSATQRSSVPSSTEKNAVSMTSSVLSSHSPGSGSSTTQGQDVTLAPATEPASGSAATWGQDVTSVPVTRPALGSTTPPAHDVTSAPDNKPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDTRPAPGSTAPPAHGVTSAPDNRPALGSTAPPVHNVTSASGSASGSASTLVHNGTSARATTTPASKSTPFSIPSHHSDTPTTLASHSTKTDASSTHHSSVPPLTSSNHSTSPQLSTGVSFFFLSFHISNLQFNSSLEDPSTDYYQELQRDISEMFLQIYKQGGFLGLSNIKFRPGSVVVQLTLAFREGTINVHDVETQFNQYKTEAASRYNLTISDVSVSDVPFPFSAQSGAGVPGWGIALLVLVCVLVALAIVYLIALAVCQCRRKNYGQLDIFPARDTYHPMSEYPTYHTHGRYVPPSSTDRSPYEKVSAGNGGSSLSYTNPAVAATSANL

The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack.; The beta subunit contains a C-terminal domain which is involved in cell signaling, through phosphorylations and protein-protein interactions. Modulates signaling in ERK, SRC and NF-kappa-B pathways. In activated T-cells, influences directly or indirectly the Ras/MAPK pathway. Promotes tumor progression. Regulates TP53-mediated transcription and determines cell fate in the genotoxic stress response. Binds, together with KLF4, the PE21 promoter element of TP53 and represses TP53 activity.

Alternative sequence (3); Chain (2); Compositional bias (2); Disulfide bond (2); Domain (1); Glycosylation (4); Modified residue (5); Motif (3); Natural variant (8); Region (2); Sequence conflict (1); Signal peptide (1); Topological domain (2); Transmembrane (1); The sequences from strains C3H, CBA, DBA/2 and FVB/N are all identical to the one displayed.; Expressed in both Th1 and Th2 cells.

Mucin-1 (MUC-1) (Breast carcinoma-associated antigen DF3) (Cancer antigen 15-3) (CA 15-3) (Carcinoma-associated mucin) (Episialin) (H23AG) (Krebs von den Lungen-6) (KL-6) (PEMT) (Peanut-reactive urinary mucin) (PUM) (Polymorphic epithelial mucin) (PEM) (Tumor-associated epithelial membrane antigen) (EMA) (Tumor-associated mucin) (CD antigen CD227) [Cleaved into: Mucin-1 subunit alpha (MUC1-NT) (MUC1-alpha); Mucin-1 subunit beta (MUC1-beta) (MUC1-CT)]

Recombinant

HEK293

Lyophilized

7.4-7.5

Sterile-filtered colorless solution

1mg/ml

Standard

PBS

SDS-PAGE

> 98%

RP-HPLC

-20°C

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.