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Mucin-like protein 1 (Protein BS106) (Small breast epithelial mucin)

 MUCL1_HUMAN             Reviewed;          90 AA.
Q96DR8; Q0VG95; Q32ZB5;
21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
01-DEC-2001, sequence version 1.
28-FEB-2018, entry version 99.
RecName: Full=Mucin-like protein 1;
AltName: Full=Protein BS106;
AltName: Full=Small breast epithelial mucin;
Flags: Precursor;
Name=MUCL1; Synonyms=SBEM; ORFNames=UNQ590/PRO1160;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], REPEAT, FUNCTION, AND TISSUE SPECIFICITY.
TISSUE=Mammary gland, and Mammary tumor;
PubMed=12019145;
Miksicek R.J., Myal Y., Watson P.H., Walker C., Murphy L.C.,
Leygue E.;
"Identification of a novel breast- and salivary gland-specific, mucin-
like gene strongly expressed in normal and tumor human mammary
epithelium.";
Cancer Res. 62:2736-2740(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, FUNCTION, AND
GLYCOSYLATION.
PubMed=12595743; DOI=10.1159/000068566;
Colpitts T.L., Billing P., Granados E., Hayden M.R., Hodges S.,
Roberts L., Russell J., Friedman P., Stroupe S.;
"Identification and immunohistochemical characterization of a mucin-
like glycoprotein expressed in early stage breast carcinoma.";
Tumor Biol. 23:263-278(2002).
[3]
NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, REPEAT, AND VARIANT
46-THR--ALA-53 DEL.
PubMed=15880534; DOI=10.1002/ijc.21147;
Wadle A., Mischo A., Imig J., Wullner B., Hensel D., Watzig K.,
Neumann F., Kubuschok B., Schmidt W., Old L.J., Pfreundschuh M.,
Renner C.;
"Serological identification of breast cancer-related antigens from a
Saccharomyces cerevisiae surface display library.";
Int. J. Cancer 117:104-113(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 21-35.
PubMed=15340161; DOI=10.1110/ps.04682504;
Zhang Z., Henzel W.J.;
"Signal peptide prediction based on analysis of experimentally
verified cleavage sites.";
Protein Sci. 13:2819-2824(2004).
[7]
FUNCTION.
PubMed=15684711; DOI=10.1089/1044549042729612;
Hube F., Mutawe M., Leygue E., Myal Y.;
"Human small breast epithelial mucin: the promise of a new breast
tumor biomarker.";
DNA Cell Biol. 23:842-849(2004).
[8]
TISSUE SPECIFICITY.
PubMed=15096563; DOI=10.1016/S1525-1578(10)60495-3;
Koga T., Horio Y., Mitsudomi T., Takahashi T., Yatabe Y.;
"Identification of MGB1 as a marker in the differential diagnosis of
lung tumors in patients with a history of breast cancer by analysis of
publicly available SAGE data.";
J. Mol. Diagn. 6:90-95(2004).
-!- FUNCTION: May play a role as marker for the diagnosis of
metastatic breast cancer. {ECO:0000269|PubMed:12019145,
ECO:0000269|PubMed:12595743, ECO:0000269|PubMed:15684711}.
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:15880534}.
Membrane {ECO:0000305|PubMed:15880534}.
-!- TISSUE SPECIFICITY: Expressed in mammary, salivary glands and
prostate. Also detected in lung. Mainly expressed in cancer cell
lines of breast origin. Highly expressed in lymph node-positive
compared with node-negative tumors. Detected in all lymph node
containing metastatic cells. {ECO:0000269|PubMed:12019145,
ECO:0000269|PubMed:12595743, ECO:0000269|PubMed:15096563}.
-!- PTM: O-glycosylated. {ECO:0000305|PubMed:12595743}.
-!- POLYMORPHISM: The number of repeats varies from 3 to 2 in one
variant form which is equally present in breast cancer tumors.
{ECO:0000269|PubMed:15880534}.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AF414087; AAL02119.1; -; mRNA.
EMBL; AY651259; AAT72303.1; -; mRNA.
EMBL; AY359062; AAQ89421.1; -; mRNA.
EMBL; BC111421; AAI11422.1; -; mRNA.
CCDS; CCDS8885.1; -.
RefSeq; NP_477521.1; NM_058173.2.
UniGene; Hs.348419; -.
ProteinModelPortal; Q96DR8; -.
BioGrid; 125603; 21.
IntAct; Q96DR8; 1.
MINT; Q96DR8; -.
STRING; 9606.ENSP00000311364; -.
BioMuta; MUCL1; -.
DMDM; 74731497; -.
PaxDb; Q96DR8; -.
PeptideAtlas; Q96DR8; -.
PRIDE; Q96DR8; -.
Ensembl; ENST00000308796; ENSP00000311364; ENSG00000172551.
GeneID; 118430; -.
KEGG; hsa:118430; -.
UCSC; uc001sgk.4; human.
CTD; 118430; -.
DisGeNET; 118430; -.
EuPathDB; HostDB:ENSG00000172551.10; -.
GeneCards; MUCL1; -.
HGNC; HGNC:30588; MUCL1.
HPA; HPA039093; -.
MIM; 610857; gene.
neXtProt; NX_Q96DR8; -.
OpenTargets; ENSG00000172551; -.
PharmGKB; PA162396316; -.
eggNOG; ENOG410KCKM; Eukaryota.
eggNOG; ENOG4110NV7; LUCA.
GeneTree; ENSGT00390000015427; -.
HOGENOM; HOG000113694; -.
InParanoid; Q96DR8; -.
OMA; FLVSAQN; -.
PhylomeDB; Q96DR8; -.
TreeFam; TF341044; -.
Reactome; R-HSA-5083625; Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC).
Reactome; R-HSA-5083632; Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS).
Reactome; R-HSA-5083636; Defective GALNT12 causes colorectal cancer 1 (CRCS1).
Reactome; R-HSA-5621480; Dectin-2 family.
Reactome; R-HSA-913709; O-linked glycosylation of mucins.
Reactome; R-HSA-977068; Termination of O-glycan biosynthesis.
GeneWiki; MUCL1; -.
GenomeRNAi; 118430; -.
PRO; PR:Q96DR8; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000172551; -.
CleanEx; HS_MUCL1; -.
ExpressionAtlas; Q96DR8; baseline and differential.
Genevisible; Q96DR8; HS.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0016266; P:O-glycan processing; TAS:Reactome.
GO; GO:0002223; P:stimulatory C-type lectin receptor signaling pathway; TAS:Reactome.
1: Evidence at protein level;
Complete proteome; Direct protein sequencing; Glycoprotein; Membrane;
Polymorphism; Reference proteome; Repeat; Secreted; Signal.
SIGNAL 1 20 {ECO:0000269|PubMed:15340161}.
CHAIN 21 90 Mucin-like protein 1.
/FTId=PRO_0000228159.
REPEAT 46 53 1.
REPEAT 54 61 2.
REPEAT 62 69 3.
REGION 46 69 3 X 8 AA tandem repeat of T-T-A-A-[APS]-
T-T-A.
COMPBIAS 23 68 Thr-rich.
CARBOHYD 23 23 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 24 24 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 30 30 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 34 34 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 46 46 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 47 47 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 51 51 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 52 52 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 54 54 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 55 55 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 59 59 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 60 60 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 62 62 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 63 63 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 66 66 O-linked (GalNAc...) serine.
{ECO:0000255}.
CARBOHYD 67 67 O-linked (GalNAc...) threonine.
{ECO:0000255}.
CARBOHYD 68 68 O-linked (GalNAc...) threonine.
{ECO:0000255}.
VARIANT 46 53 Missing. {ECO:0000269|PubMed:15880534}.
/FTId=VAR_025700.
SEQUENCE 90 AA; 9039 MW; FEA58A2833B07262 CRC64;
MKFLAVLVLL GVSIFLVSAQ NPTTAAPADT YPATGPADDE APDAETTAAA TTATTAAPTT
ATTAASTTAR KDIPVLPKWV GDLPNGRVCP


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