Homo sapiens Protein: DMBT1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-91976.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DMBT1 | ||||||||||||||||||||||
Protein Name | deleted in malignant brain tumors 1 | ||||||||||||||||||||||
Synonyms | GP340; muclin; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000357905 | ||||||||||||||||||||||
InnateDB Gene | IDBG-91946 (DMBT1) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
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 receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lineage. Required for terminal differentiation of columnar epithelial cells during early embryogenesis. May function as a binding protein in saliva for the regulation of taste sensation. Binds to HIV-1 envelope protein and has been shown to both inhibit and facilitate viral transmission. Displays a broad calcium-dependent binding spectrum against both Gram-positive and Gram-negative bacteria, suggesting a role in defense against bacterial pathogens. Binds to a range of poly- sulfated and poly-phosphorylated ligands which may explain its broad bacterial-binding specificity. Inhibits cytoinvasion of S.enterica. Associates with the actin cytoskeleton and is involved in its remodeling during regulated exocytosis. Interacts with pancreatic zymogens in a pH-dependent manner and may act as a Golgi cargo receptor in the regulated secretory pathway of the pancreatic acinar cell. {ECO:0000269PubMed:10485905, ECO:0000269PubMed:11007786, ECO:0000269PubMed:11751412, ECO:0000269PubMed:16796526, ECO:0000269PubMed:17548659, ECO:0000269PubMed:17709527, ECO:0000269PubMed:19189310, ECO:0000269PubMed:9288095}. | ||||||||||||||||||||||
Subcellular Localization | Secreted {ECO:0000250}. Note=Some isoforms may be membrane-bound. Localized to the lumenal aspect of crypt cells in the small intestine. In the colon, seen in the lumenal aspect of surface epithelial cells. Formed in the ducts of von Ebner gland, and released into the fluid bathing the taste buds contained in the taste papillae (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well. | ||||||||||||||||||||||
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, salivary gland, small intestine and stomach. In pancreas, expressed in certain cells of the islets of Langerhans. In digestive tract, confined to tissues with large epithelial surfaces. In intestinal tissue, moderately expressed in epithelial cells of the midcrypts and the crypt base. Expression is significantly elevated in intestinal tissue from patients with inflammatory bowel disease (IBD), particularly in surface epithelial and Paneth cells, but not in IBD patients with mutant NOD2. Present in crypt bases of the duodenum, in crypt tops of the colon, and in collecting ducts of the cortical kidney. Expressed in stratified squamous epithelium of vagina and in outer luminar surface and basilar region of columnar epithelial cells in cervix (at protein level). Isoform 1 is secreted to the lumen of the respiratory tract. {ECO:0000269PubMed:10485905, ECO:0000269PubMed:10749143, ECO:0000269PubMed:11751412, ECO:0000269PubMed:16796526, ECO:0000269PubMed:17548659, ECO:0000269PubMed:17983803, ECO:0000269PubMed:9288095}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000859
CUB domain IPR001190 SRCR domain IPR001507 Zona pellucida domain IPR017448 SRCR-like domain |
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PFAM |
PF00431
PF00530 PF00100 |
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PRINTS |
PR00258
PR00023 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00042
SM00241 SM00202 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9UGM3 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UGM3 | ||||||||||||||||||||||
TrEMBL | B6V682 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1755 | ||||||||||||||||||||||
UniGene | Hs.279611 | ||||||||||||||||||||||
RefSeq | NP_015568 | ||||||||||||||||||||||
HUGO | HGNC:2926 | ||||||||||||||||||||||
OMIM | 601969 | ||||||||||||||||||||||
CCDS | CCDS44490 | ||||||||||||||||||||||
HPRD | 03575 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB020851 AB209691 AF159456 AJ000342 AJ243211 AJ243212 AJ243224 AJ297935 AK304149 AL603764 BC153299 BX640988 FJ234410 | ||||||||||||||||||||||
GenPept | AAD49696 AAI53300 ACI95281 BAA78577 BAD92928 BAH14118 CAA04019 CAB56155 CAB63941 CAB63942 CAC44122 CAE45995 CAI14487 CAI14488 CAI14489 CAI14490 CAI14491 CAI14492 CAI14493 CAI14494 CAI14495 CAI14496 | ||||||||||||||||||||||