MUCL1_HUMAN
ID MUCL1_HUMAN Reviewed; 90 AA.
AC Q96DR8; Q0VG95; Q32ZB5;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Mucin-like protein 1;
DE AltName: Full=Protein BS106;
DE AltName: Full=Small breast epithelial mucin;
DE Flags: Precursor;
GN Name=MUCL1; Synonyms=SBEM; ORFNames=UNQ590/PRO1160;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], REPEAT, FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Mammary gland, and Mammary tumor;
RX PubMed=12019145;
RA Miksicek R.J., Myal Y., Watson P.H., Walker C., Murphy L.C., Leygue E.;
RT "Identification of a novel breast- and salivary gland-specific, mucin-like
RT gene strongly expressed in normal and tumor human mammary epithelium.";
RL Cancer Res. 62:2736-2740(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, FUNCTION, AND
RP GLYCOSYLATION.
RX PubMed=12595743; DOI=10.1159/000068566;
RA Colpitts T.L., Billing P., Granados E., Hayden M.R., Hodges S., Roberts L.,
RA Russell J., Friedman P., Stroupe S.;
RT "Identification and immunohistochemical characterization of a mucin-like
RT glycoprotein expressed in early stage breast carcinoma.";
RL Tumor Biol. 23:263-278(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, REPEAT, AND VARIANT
RP 46-THR--ALA-53 DEL.
RX PubMed=15880534; DOI=10.1002/ijc.21147;
RA Wadle A., Mischo A., Imig J., Wullner B., Hensel D., Watzig K., Neumann F.,
RA Kubuschok B., Schmidt W., Old L.J., Pfreundschuh M., Renner C.;
RT "Serological identification of breast cancer-related antigens from a
RT Saccharomyces cerevisiae surface display library.";
RL Int. J. Cancer 117:104-113(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 21-35.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
RN [7]
RP FUNCTION.
RX PubMed=15684711; DOI=10.1089/dna.2004.23.842;
RA Hube F., Mutawe M., Leygue E., Myal Y.;
RT "Human small breast epithelial mucin: the promise of a new breast tumor
RT biomarker.";
RL DNA Cell Biol. 23:842-849(2004).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=15096563; DOI=10.1016/s1525-1578(10)60495-3;
RA Koga T., Horio Y., Mitsudomi T., Takahashi T., Yatabe Y.;
RT "Identification of MGB1 as a marker in the differential diagnosis of lung
RT tumors in patients with a history of breast cancer by analysis of publicly
RT available SAGE data.";
RL J. Mol. Diagn. 6:90-95(2004).
CC -!- FUNCTION: May play a role as marker for the diagnosis of metastatic
CC breast cancer. {ECO:0000269|PubMed:12019145,
CC ECO:0000269|PubMed:12595743, ECO:0000269|PubMed:15684711}.
CC -!- INTERACTION:
CC Q96DR8; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-9056153, EBI-11343438;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:15880534}. Membrane
CC {ECO:0000305|PubMed:15880534}.
CC -!- TISSUE SPECIFICITY: Expressed in mammary, salivary glands and prostate.
CC Also detected in lung. Mainly expressed in cancer cell lines of breast
CC origin. Highly expressed in lymph node-positive compared with node-
CC negative tumors. Detected in all lymph node containing metastatic
CC cells. {ECO:0000269|PubMed:12019145, ECO:0000269|PubMed:12595743,
CC ECO:0000269|PubMed:15096563}.
CC -!- PTM: O-glycosylated. {ECO:0000305|PubMed:12595743}.
CC -!- POLYMORPHISM: The number of repeats varies from 3 to 2 in one variant
CC form which is equally present in breast cancer tumors.
CC {ECO:0000269|PubMed:15880534}.
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DR EMBL; AF414087; AAL02119.1; -; mRNA.
DR EMBL; AY651259; AAT72303.1; -; mRNA.
DR EMBL; AY359062; AAQ89421.1; -; mRNA.
DR EMBL; BC111421; AAI11422.1; -; mRNA.
DR CCDS; CCDS8885.1; -.
DR RefSeq; NP_477521.1; NM_058173.2.
DR AlphaFoldDB; Q96DR8; -.
DR BioGRID; 125603; 54.
DR IntAct; Q96DR8; 11.
DR MINT; Q96DR8; -.
DR STRING; 9606.ENSP00000311364; -.
DR GlyGen; Q96DR8; 18 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q96DR8; -.
DR PhosphoSitePlus; Q96DR8; -.
DR BioMuta; MUCL1; -.
DR DMDM; 74731497; -.
DR jPOST; Q96DR8; -.
DR MassIVE; Q96DR8; -.
DR PaxDb; Q96DR8; -.
DR PeptideAtlas; Q96DR8; -.
DR PRIDE; Q96DR8; -.
DR ProteomicsDB; 76309; -.
DR Antibodypedia; 48436; 55 antibodies from 11 providers.
DR DNASU; 118430; -.
DR Ensembl; ENST00000308796.11; ENSP00000311364.5; ENSG00000172551.12.
DR GeneID; 118430; -.
DR KEGG; hsa:118430; -.
DR MANE-Select; ENST00000308796.11; ENSP00000311364.5; NM_058173.3; NP_477521.1.
DR UCSC; uc001sgk.4; human.
DR CTD; 118430; -.
DR DisGeNET; 118430; -.
DR GeneCards; MUCL1; -.
DR HGNC; HGNC:30588; MUCL1.
DR HPA; ENSG00000172551; Tissue enriched (breast).
DR MIM; 610857; gene.
DR neXtProt; NX_Q96DR8; -.
DR OpenTargets; ENSG00000172551; -.
DR PharmGKB; PA162396316; -.
DR VEuPathDB; HostDB:ENSG00000172551; -.
DR eggNOG; ENOG502TEGX; Eukaryota.
DR GeneTree; ENSGT01050000245407; -.
DR HOGENOM; CLU_2589061_0_0_1; -.
DR InParanoid; Q96DR8; -.
DR OMA; TSACHHI; -.
DR PhylomeDB; Q96DR8; -.
DR TreeFam; TF341044; -.
DR PathwayCommons; Q96DR8; -.
DR Reactome; R-HSA-5083625; Defective GALNT3 causes HFTC.
DR Reactome; R-HSA-5083632; Defective C1GALT1C1 causes TNPS.
DR Reactome; R-HSA-5083636; Defective GALNT12 causes CRCS1.
DR Reactome; R-HSA-5621480; Dectin-2 family.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR Reactome; R-HSA-977068; Termination of O-glycan biosynthesis.
DR SignaLink; Q96DR8; -.
DR BioGRID-ORCS; 118430; 10 hits in 1063 CRISPR screens.
DR GeneWiki; MUCL1; -.
DR GenomeRNAi; 118430; -.
DR Pharos; Q96DR8; Tbio.
DR PRO; PR:Q96DR8; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96DR8; protein.
DR Bgee; ENSG00000172551; Expressed in upper leg skin and 95 other tissues.
DR ExpressionAtlas; Q96DR8; baseline and differential.
DR Genevisible; Q96DR8; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Glycoprotein; Membrane; Reference proteome;
KW Repeat; Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 21..90
FT /note="Mucin-like protein 1"
FT /id="PRO_0000228159"
FT REPEAT 46..53
FT /note="1"
FT REPEAT 54..61
FT /note="2"
FT REPEAT 62..69
FT /note="3"
FT REGION 25..68
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 46..69
FT /note="3 X 8 AA tandem repeat of T-T-A-A-[APS]-T-T-A"
FT COMPBIAS 47..68
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 23
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 24
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 30
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 34
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 46
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 47
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 51
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 52
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 54
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 55
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 59
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 60
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 62
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 63
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 66
FT /note="O-linked (GalNAc...) serine"
FT /evidence="ECO:0000255"
FT CARBOHYD 67
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT CARBOHYD 68
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT VARIANT 46..53
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:15880534"
FT /id="VAR_025700"
SQ SEQUENCE 90 AA; 9039 MW; FEA58A2833B07262 CRC64;
MKFLAVLVLL GVSIFLVSAQ NPTTAAPADT YPATGPADDE APDAETTAAA TTATTAAPTT
ATTAASTTAR KDIPVLPKWV GDLPNGRVCP
