tumor-associated epithelial membrane antigen
(https://www.ncbi.nlm.nih.gov/pubmed/28325920
https://www.oncotab.com/science-technology/
https://www.oncotab.com/wp-content/uploads/2016/02/MUC1-Picture.jpg
(Suom) RAKENNETIEDOT isoformista 7 ja historiaa sen tutkimuksesta.
2018. Ref.1. "TA-MUC1", Gatipozumab, on vasta-aine, joka on kehiteltu havaitsemaan syöpäspesifisiä glykomodifikaatioita MUC1- musiinissa ja optimoitu liipaisemaan esiin tehokas vasta-aineista riippuva soluvälitteinen sytotoksisuus (ADCC) syöpäsoluissa
2005. Ref.2. Kervikaalisyöpään assosioituu korkea MUC1- expressio.
2001.Ref.3. On tunnistetttu MUC1 proteolyyttinen in vivo- pilkkoutumiskohta.
1994. Ref.4. Löydetyn MUC1-proteiinin luon luonnehdinsta ja kloonaus. Siitä puuttua TR- toistojaksot ja TR- toistojaksot ja sitä ilmenee ihmisen rintasyöpäkudoksessa.
1993. Ref.5. Autosomaalinen dominantti tubulointerstitiaalinen munuaistauti, MUC1- geeniin korreloiva
1990. Ref.6.Ihmisen polymorfisen epiteliaalisen musiinin geenin rakenne ja ilmentymä. Eräs ilmentynyt VNTR yksikkö
1990. Ref.7. Erästä rintasyöpään assosioitunutta antigeenia koodaavan expressoituneen hypervariaabelin geenin eristys ja luonnehdinta.
1990. Ref.8.Ihmisen haimatuumorin musiinin cDNA:n kloonaus ja sekvensointi.
1990. Ref.9. Ihmistuumoriin assosioituvan polymorfisen epiteliaalisen musiinin molekulaarinen kloonaus ja ilmenemä.
1990. Ref.10. Episialiini, syöpään assosioituva musiini, kehkeytyy polymorfisesta geenistä, joka koodaapleissausvariantteja, joilla on vaihtoehtoiset aminoterminaalit.
LOCUS NP_001037857 159 aa linear PRI 08-OCT-2018
DEFINITION mucin-1 isoform 7 precursor [Homo sapiens].
ACCESSION NP_001037857
VERSION NP_001037857.1
DBSOURCE REFSEQ: accession NM_001044392.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 159)
AUTHORS Heublein S, Friese K, Kost B, Marme F, Kuhn C, Mahner S, Dannecker
C, Mayr D, Jeschke U and Vattai A.
TITLE TA-MUC1 as detected by the fully humanized, therapeutic antibody
Gatipotzumab predicts poor prognosis in cervical cancer
JOURNAL J. Cancer Res. Clin. Oncol. 144 (10), 1899-1907 (2018)
PUBMED 30062487
REMARK GeneRIF: High MUC1 expression is associated with cervical cancer.
REFERENCE 2 (residues 1 to 159)
AUTHORS Levitin F, Baruch A, Weiss M, Stiegman K, Hartmann ML, Yoeli-Lerner
M, Ziv R, Zrihan-Licht S, Shina S, Gat A, Lifschitz B, Simha M,
Stadler Y, Cholostoy A, Gil B, Greaves D, Keydar I, Zaretsky J,
Smorodinsky N and Wreschner DH.
TITLE A novel protein derived from the MUC1 gene by alternative splicing
and frameshifting
JOURNAL J. Biol. Chem. 280 (11), 10655-10663 (2005)
PUBMED 15623537
REMARK GeneRIF: analysis of a novel MUC1 protein isoform MUC1/ZD, which is
generated by an alternative splicing event that both deletes the
tandem-repeat array and leads to a C-terminal reading frameshift
REFERENCE 3 (residues 1 to 159)
AUTHORS Parry S, Silverman HS, McDermott K, Willis A, Hollingsworth MA and
Harris A.
TITLE Identification of MUC1 proteolytic cleavage sites in vivo
JOURNAL Biochem. Biophys. Res. Commun. 283 (3), 715-720 (2001)
PUBMED 11341784
REFERENCE 4 (residues 1 to 159)
AUTHORS Zrihan-Licht S, Vos HL, Baruch A, Elroy-Stein O, Sagiv D, Keydar I,
Hilkens J and Wreschner DH.
TITLE Characterization and molecular cloning of a novel MUC1 protein,
devoid of tandem repeats, expressed in human breast cancer tissue
JOURNAL Eur. J. Biochem. 224 (2), 787-795 (1994)
PUBMED 7925397
REFERENCE 5 (residues 1 to 159)
AUTHORS Bleyer,A.J. and Kmoch,S.
TITLE Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related
JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
K and Amemiya A (Eds.);
GENEREVIEWS((R));
(1993)
PUBMED 23946964
REFERENCE 6 (residues 1 to 159)
AUTHORS Lancaster CA, Peat N, Duhig T, Wilson D, Taylor-Papadimitriou J and
Gendler SJ.
TITLE Structure and expression of the human polymorphic epithelial mucin
gene: an expressed VNTR unit
JOURNAL Biochem. Biophys. Res. Commun. 173 (3), 1019-1029 (1990)
PUBMED 2268309
REFERENCE 7 (residues 1 to 159)
AUTHORS Tsarfaty I, Hareuveni M, Horev J, Zaretsky J, Weiss M, Jeltsch JM,
Garnier JM, Lathe R, Keydar I and Wreschner DH.
TITLE Isolation and characterization of an expressed hypervariable gene
coding for a breast-cancer-associated antigen
JOURNAL Gene 93 (2), 313-318 (1990)
PUBMED 1688329
REFERENCE 8 (residues 1 to 159)
AUTHORS Lan MS, Batra SK, Qi WN, Metzgar RS and Hollingsworth MA.
TITLE Cloning and sequencing of a human pancreatic tumor mucin cDNA
JOURNAL J. Biol. Chem. 265 (25), 15294-15299 (1990)
PUBMED 2394722
REFERENCE 9 (residues 1 to 159)
AUTHORS Gendler SJ, Lancaster CA, Taylor-Papadimitriou J, Duhig T, Peat N,
Burchell J, Pemberton L, Lalani EN and Wilson D.
TITLE Molecular cloning and expression of human tumor-associated
polymorphic epithelial mucin
JOURNAL J. Biol. Chem. 265 (25), 15286-15293 (1990)
PUBMED 1697589
REFERENCE 10 (residues 1 to 159)
AUTHORS Ligtenberg MJ, Vos HL, Gennissen AM and Hilkens J.
TITLE Episialin, a carcinoma-associated mucin, is generated by a
polymorphic gene encoding splice variants with alternative amino
termini
JOURNAL J. Biol. Chem. 265 (10), 5573-5578 (1990)
PUBMED 2318825
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from J05581.1, AY327584.1,
AC234582.3 and AA425062.1.
Summary: 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 Variant: This variant (7) has multiple differences but
maintains the reading frame, compared to variant 1. These
differences result in a shorter isoform (7), compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AY327584.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2142586 [ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..159
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q22"
Protein 1..159
/product="mucin-1 isoform 7 precursor"
/note="peanut-reactive urinary mucin; episialin;
polymorphic epithelial mucin; H23 antigen; mucin 1,
transmembrane; tumor associated epithelial mucin; breast
carcinoma-associated antigen DF3; cancer antigen 15-3;
carcinoma-associated mucin; tumor-associated epithelial
membrane antigen; krebs von den Lungen-6"
/calculated_mol_wt=14671
sig_peptide 1..23
/inference="protein motif:SignalP:3.0"
/note="The cleavage site of the signal peptide has not
been experimentally determined."
/calculated_mol_wt=2437
mat_peptide 24..159
/product="mucin-1 isoform 7"
/calculated_mol_wt=14671
Region 45..>85
/region_name="SEA"
/note="SEA domain; cl02507"
/db_xref="CDD:295333"
Region <119 ..="">154
/region_name="KdpC"
/note="K+-transporting ATPase, c chain; cl00944"
/db_xref="CDD:294614"
CDS 1..159
/gene="MUC1"
/gene_synonym="ADMCKD; ADMCKD1; CA 15-3; CD227; EMA;
H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1; MUC-1/SEC;
MUC-1/X; MUC1/ZD; PEM; PEMT; PUM"
/coded_by="NM_001044392.2:73..552"
/note="isoform 7 precursor is encoded by transcript
variant 7"
/db_xref="CCDS:CCDS41408.1"
/db_xref="GeneID:4582"
/db_xref="HGNC:HGNC:7508"
/db_xref="MIM:158340"
ORIGIN
1 mtpgtqspff llllltvlta ttapkpatvv tgsghasstp ggeketsatq rssvpsstek
61 nafnssledp stdyyqelqr disemavcqc rrknygqldi fpardtyhpm seyptyhthg
121 ryvppsstdr spyekvsagn ggsslsytnp avaatsanl
//
Muistiin 9.11. 2018
2018-artikkeli
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059737/figure/f1-or-40-01-0145/
https://www.ncbi.nlm.nih.gov/pubmed/29749490/
Lupaava varhaisen rintasyövän biomerkitsijä antigeeni.
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