Gene Gene information from NCBI Gene database.
Entrez ID 1755
Gene name Deleted in malignant brain tumors 1
Gene symbol DMBT1
Synonyms (NCBI Gene)
GP340SAGSALSAmuclin
Chromosome 10
Chromosome location 10q26.13
Summary Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb
miRNA miRNA information provided by mirtarbase database.
2
miRTarBase ID miRNA Experiments Reference
MIRT939039 hsa-miR-197 CLIP-seq
MIRT939040 hsa-miR-5096 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0001530 Function Lipopolysaccharide binding IDA 19189310
GO:0003677 Function DNA binding IDA 19189310
GO:0005044 Function Scavenger receptor activity IDA 19189310
GO:0005044 Function Scavenger receptor activity NAS 9288095
GO:0005044 Function Scavenger receptor activity TAS 10485905
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601969 2926 ENSG00000187908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGM3
Protein name Scavenger receptor cysteine-rich domain-containing protein DMBT1 (Deleted in malignant brain tumors 1 protein) (Glycoprotein 340) (Gp-340) (Hensin) (Salivary agglutinin) (SAG) (Surfactant pulmonary-associated D-binding protein)
Protein function May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin
PDB 6SA4 , 6SA5 , 6SAN , 8J8D , 8J8T , 8WZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 105 202 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 237 334 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 366 463 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 497 594 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 605 702 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 736 833 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 865 962 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 996 1093 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1125 1222 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1254 1351 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1383 1480 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1512 1609 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 1643 1740 Scavenger receptor cysteine-rich domain Domain
PF00431 CUB 1766 1874 CUB domain Domain
PF00530 SRCR 1889 1986 Scavenger receptor cysteine-rich domain Domain
PF00431 CUB 2008 2114 CUB domain Domain
PF00100 Zona_pellucida 2127 2379 Zona pellucida-like domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in alveolar and macrophage tissues. In some macrophages, expression is seen on the membrane, and in other macrophages, strongly expressed in the phagosome/phagolysosome compartments. Expressed in lung, trachea, salivar
Sequence
MGISTVILEMCLLWGQVLSTGGWIPRTTDYASLIPSEVPLDPTVAEGSPFPSESTLESTV
AEGSPISLESTLESTVAEGSLIPSESTLESTVAEGSDSGLALRLVNGDGRCQGRVEILYR
GSWGTVCDDSWDTNDANVVCRQLGCGWAMSAPGNAWFGQGSGPIALDDVRCSGHESYLWS
CPHNGWLSHNCGHGEDAGVICS
AAQPQSTLRPESWPVRISPPVPTEGSESSLALRLVNGG
DRCRGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPGNAQFGQGSGPIVLDD
VRCSGHESYLWSCPHNGWLTHNCGHSEDAGVICS
APQSRPTPSPDTWPTSHASTAGPESS
LALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTSDANVVCRQLGCGWATSAPGNARFGQ
GSGPIVLDDVRCSGYESYLWSCPHNGWLSHNCQHSEDAGVICS
AAHSWSTPSPDTLPTIT
LPASTVGSESSLALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWA
MLAPGNARFGQGSGPIVLDDVRCSGNESYLWSCPHNGWLSHNCGHSEDAGVICS
GPESSL
ALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWATSAPGNARFGQG
SGPIVLDDVRCSGHESYLWSCPNNGWLSHNCGHHEDAGVICS
AAQSRSTPRPDTLSTITL
PPSTVGSESSLTLRLVNGSDRCQGRVEVLYRGSWGTVCDDSWDTNDANVVCRQLGCGWAT
SAPGNARFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
VSQSRPT
PSPDTWPTSHASTAGPESSLALRLVNGGDRCQGRVEVLYRGSWGTVCDDSWDTSDANVVC
RQLGCGWATSAPGNARFGQGSGPIVLDDVRCSGYESYLWSCPHNGWLSHNCQHSEDAGVI
CS
AAHSWSTPSPDTLPTITLPASTVGSESSLALRLVNGGDRCQGRVEVLYQGSWGTVCDD
SWDTNDANVVCRQLGCGWAMSAPGNARFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSH
NCGHSEDAGVICS
ASQSRPTPSPDTWPTSHASTAGSESSLALRLVNGGDRCQGRVEVLYR
GSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPGNARFGQGSGPIVLDDVRCSGHESYLWS
CPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSHASTAGSESSLALRLVNGGDRC
QGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWATSAPGNARFGQGSGPIVLDDVRC
SGHESYLWSCPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSHASTAGSESSLAL
RLVNGGDRCQGRVEVLYRGSWGTVCDDYWDTNDANVVCRQLGCGWATSAPGNARFGQGSG
PIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
ASQSQPTPSPDTWPTSRAST
AGSESTLALRLVNGGDRCRGRVEVLYQGSWGTVCDDYWDTNDANVVCRQLGCGWAMSAPG
NAQFGQGSGPIVLDDVRCSGHESYLWSCPHNGWLSHNCGHHEDAGVICS
AAQSQSTPRPD
TWLTTNLPALTVGSESSLALRLVNGGDRCRGRVEVLYRGSWGTVCDDSWDTNDANVVCRQ
LGCGWAMSAPGNARFGQGSGPIVLDDVRCSGNESYLWSCPHKGWLTHNCGHHEDAGVICS

ATQINSTTTDWWHPTTTTTARPSSNCGGFLFYASGTFSSPSYPAYYPNNAKCVWEIEVNS
GYRINLGFSNLKLEAHHNCSFDYVEIFDGSLNSSLLLGKICNDTRQIFTSSYNRMTIHFR
SDISFQNTGFLAWY
NSFPSDATLRLVNLNSSYGLCAGRVEIYHGGTWGTVCDDSWTIQEA
EVVCRQLGCGRAVSALGNAYFGSGSGPITLDDVECSGTESTLWQCRNRGWFSHNCNHRED
AGVICS
GNHLSTPAPFLNITRPNTDYSCGGFLSQPSGDFSSPFYPGNYPNNAKCVWDIEV
QNNYRVTVIFRDVQLEGGCNYDYIEVFDGPYRSSPLIARVCDGARGSFTSSSNFMSIRFI
SDHSITRRGFRAEY
YSSPSNDSTNLLCLPNHMQASVSRSYLQSLGFSASDLVISTWNGYY
ECRPQITPNLVIFTIPYSGCGTFKQADNDTIDYSNFLTAAVSGGIIKRRTDLRIHVSCRM
LQNTWVDTMYIANDTIHVANNTIQVEEVQYGNFDVNISFYTSSSFLYPVTSRPYYVDLNQ
DLYVQAEILHSDAVLTLFVDTCVASPYSNDFTSLTYDLIRSGCVRDDTYGPYSSPSLRIA
RFRFRAFHFLNRFPSVYLRCKMVVCRAYDPSSRCYRGCV
LRSKRDVGSYQEKVDVVLGPI
QLQTPPRREEEPR
Sequence length 2413
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salivary secretion   Surfactant metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
49
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs191098913 RCV005933449
DMBT1-related disorder Likely benign; Benign; Uncertain significance rs559027701, rs189478437, rs199638381, rs190602319, rs549068481, rs199506530, rs144244700, rs148720177, rs28493439, rs202031071, rs372991622, rs2097821479, rs149788698, rs75209396, rs189221852
View all (30 more)
RCV003919093
RCV003954116
RCV003906727
RCV003919094
RCV003894562
RCV003909338
RCV003909503
RCV003919708
RCV003924013
RCV003914725
RCV003917276
RCV003894450
RCV003904206
RCV003916790
RCV003916798
RCV003977211
RCV003979445
RCV003979477
RCV003909621
RCV003914129
RCV003941865
RCV003959808
RCV003917081
RCV003919503
RCV003931603
RCV003927129
RCV003917270
RCV003949664
RCV003949827
RCV003944511
RCV003924501
RCV003937192
RCV003949241
RCV003934397
RCV003954582
RCV003976778
RCV003957387
RCV003971442
RCV003969427
RCV003976288
RCV003936060
RCV003958224
RCV003958225
RCV003968313
RCV003970406
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs745679762 RCV004560231
Hereditary breast ovarian cancer syndrome Uncertain significance rs377585441 RCV001374480
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 37565794
Allergic Fungal Sinusitis Associate 33755113
Brain Neoplasms Associate 10551316, 11563989, 23439307, 29287594, 9888459
Brain Neoplasms Inhibit 23691218
Breast Neoplasms Inhibit 15301691
Breast Neoplasms Associate 23107584, 29287594, 32734521
Carcinogenesis Associate 10551316
Carcinoma Squamous Cell Associate 31400059, 38037123
Colitis Associate 26813944
Colitis Ulcerative Associate 23691218, 37322958