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Aliases for DMBT1 Gene

Aliases for DMBT1 Gene

  • Deleted In Malignant Brain Tumors 1 2 3
  • Surfactant Pulmonary-Associated D-Binding Protein 3 4
  • Salivary Agglutinin 3 4
  • Glycoprotein 340 3 4
  • Gp-340 3 4
  • Hensin 3 4
  • GP340 3 4
  • SAG 3 4
  • Deleted In Malignant Brain Tumors 1 Protein 3
  • Muclin 3

External Ids for DMBT1 Gene

Summaries for DMBT1 Gene

Entrez Gene Summary for DMBT1 Gene

  • Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Nov 2014]

GeneCards Summary for DMBT1 Gene

DMBT1 (Deleted In Malignant Brain Tumors 1) is a Protein Coding gene. Diseases associated with DMBT1 include medulloblastoma and appendicitis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include scavenger receptor activity and signaling pattern recognition receptor activity. An important paralog of this gene is LOXL1.

UniProtKB/Swiss-Prot for DMBT1 Gene

  • 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.

Gene Wiki entry for DMBT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMBT1 Gene

Genomics for DMBT1 Gene

Genomic Location for DMBT1 Gene

Start:
122,560,665 bp from pter
End:
122,643,736 bp from pter
Size:
83,072 bases
Orientation:
Plus strand

Genomic View for DMBT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMBT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMBT1 Gene

Regulatory Elements for DMBT1 Gene

Proteins for DMBT1 Gene

  • Protein details for DMBT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGM3-DMBT1_HUMAN
    Recommended name:
    Deleted in malignant brain tumors 1 protein
    Protein Accession:
    Q9UGM3
    Secondary Accessions:
    • A6NDG4
    • A6NDJ5
    • A8E4R5
    • B1ARE7
    • B1ARE8
    • B1ARE9
    • B1ARF0
    • B7Z8Y2
    • F8WEF7
    • Q59EX0
    • Q5JR26
    • Q6MZN4
    • Q96DU4
    • Q9UGM2
    • Q9UJ57
    • Q9UKJ4
    • Q9Y211
    • Q9Y4V9

    Protein attributes for DMBT1 Gene

    Size:
    2413 amino acids
    Molecular mass:
    260735 Da
    Quaternary structure:
    • Interacts with LGALS3 (By similarity). Binds SFTPD and SPAR in a calcium-dependent manner. Binds to HIV-1 glycoprotein 120.

    Alternative splice isoforms for DMBT1 Gene

neXtProt entry for DMBT1 Gene

Proteomics data for DMBT1 Gene at MOPED

Post-translational modifications for DMBT1 Gene

  • Highly N- and O-glycosylated. The O-glycans are heavily sulfated (By similarity).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser220, Thr225, Asn566, Asn737, Ser1499, Thr1500, Ser1503, Asn1712, Asn1745, Asn1818, Asn1832, Asn1842, Asn1889, Asn1998, Asn2120, Asn2188, Asn2233, Asn2240, and Asn2256

No data available for DME Specific Peptides for DMBT1 Gene

Domains for DMBT1 Gene

Protein Domains for DMBT1 Gene

UniProtKB/Swiss-Prot:

DMBT1_HUMAN
Domain:
  • The SRCR domains mediate binding to bacteria. The minimal bacterial-binding site is an 11-residue repeat of GRVEVLYRGSW where VEVL and W are critical residues:
    • Q9UGM3
  • Contains 2 CUB domains.:
    • Q9UGM3
  • Contains 14 SRCR domains.:
    • Q9UGM3
  • Contains 1 ZP domain.:
    • Q9UGM3
Family:
  • Belongs to the DMBT1 family.:
    • Q9UGM3
genes like me logo Genes that share domains with DMBT1: view

No data available for Gene Families for DMBT1 Gene

Function for DMBT1 Gene

Molecular function for DMBT1 Gene

GENATLAS Biochemistry: tumor suppressor gene,likely truncated form of a receptor for SFTPD ,expressed at high levels in lung,trachea and small intestine and stomach,deleted in malignant brain tumors and in developing glioblastoma multiform,inactivated in lung cancer,included in TSG10B,homolog of H3 progesterone-induced endometrial gene
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Up-regulated in intestinal epithelial cells in response to proinflammatory stimuli including TNF and bacterial lipopolysaccharides (LPS).

Gene Ontology (GO) - Molecular Function for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005044 scavenger receptor activity TAS 10485905
GO:0005515 protein binding IPI 14676191
GO:0008329 signaling pattern recognition receptor activity TAS 12681477
GO:0035375 zymogen binding ISS --
GO:0048306 calcium-dependent protein binding TAS 10485905
genes like me logo Genes that share ontologies with DMBT1: view
genes like me logo Genes that share phenotypes with DMBT1: view

Animal Models for DMBT1 Gene

MGI Knock Outs for DMBT1:

miRNA for DMBT1 Gene

miRTarBase miRNAs that target DMBT1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DMBT1 Gene

Localization for DMBT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMBT1 Gene

Secreted. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMBT1 Gene COMPARTMENTS Subcellular localization image for DMBT1 gene
Compartment Confidence
extracellular 5
cytosol 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 14732920
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 22664934
GO:0005622 intracellular --
GO:0005737 cytoplasm IDA 10485905
genes like me logo Genes that share ontologies with DMBT1: view

Pathways for DMBT1 Gene

genes like me logo Genes that share pathways with DMBT1: view

Pathways by source for DMBT1 Gene

1 Qiagen pathway for DMBT1 Gene
2 Cell Signaling Technology pathways for DMBT1 Gene
1 BioSystems pathway for DMBT1 Gene

Gene Ontology (GO) - Biological Process for DMBT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001824 blastocyst development --
GO:0001833 inner cell mass cell proliferation IEA --
GO:0002221 pattern recognition receptor signaling pathway TAS 12681477
GO:0006898 receptor-mediated endocytosis TAS 10485905
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DMBT1: view

Compounds for DMBT1 Gene

(1) HMDB Compounds for DMBT1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(5) Novoseek inferred chemical compound relationships for DMBT1 Gene

Compound -log(P) Hits PubMed IDs
sialic acid 27.7 1
maltose 25.6 1
cysteine 10.5 2
calcium 0 3
serine 0 1
genes like me logo Genes that share compounds with DMBT1: view

Transcripts for DMBT1 Gene

Unigene Clusters for DMBT1 Gene

Deleted in malignant brain tumors 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DMBT1 Gene

No ASD Table

Relevant External Links for DMBT1 Gene

GeneLoc Exon Structure for
DMBT1
ECgene alternative splicing isoforms for
DMBT1

Expression for DMBT1 Gene

mRNA expression in normal human tissues for DMBT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMBT1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (26.3), Colon - Transverse (13.6), Minor Salivary Gland (6.2), and Lung (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DMBT1 Gene

SOURCE GeneReport for Unigene cluster for DMBT1 Gene Hs.279611

mRNA Expression by UniProt/SwissProt for DMBT1 Gene

Q9UGM3-DMBT1_HUMAN
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.
genes like me logo Genes that share expressions with DMBT1: view

Orthologs for DMBT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DMBT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMBT1 36
  • 95.37 (n)
  • 94.23 (a)
DMBT1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMBT1 37
  • 55 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMBT1 36
  • 79.67 (n)
  • 78.49 (a)
DMBT1 37
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmbt1 36
  • 74.02 (n)
  • 72.18 (a)
Dmbt1 16
Dmbt1 37
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMBT1 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMBT1 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmbt1 36
  • 70.34 (n)
  • 67.77 (a)
chicken
(Gallus gallus)
Aves CUZD1 36
  • 56.57 (n)
  • 51.56 (a)
DMBT1 37
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMBT1 37
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii BX324164.1 37
  • 46 (a)
ManyToMany
si:dkey-14d8.20 36
  • 53.98 (n)
  • 49.82 (a)
si:dkey-242e21.3 37
  • 15 (a)
ManyToMany
si:dkey-8e10.2 37
  • 21 (a)
ManyToMany
Species with no ortholog for DMBT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DMBT1 Gene

ENSEMBL:
Gene Tree for DMBT1 (if available)
TreeFam:
Gene Tree for DMBT1 (if available)

Paralogs for DMBT1 Gene

Paralogs for DMBT1 Gene

Selected SIMAP similar genes for DMBT1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DMBT1: view

Variants for DMBT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DMBT1 Gene

Q9UGM3-DMBT1_HUMAN
The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may represent the major site of alterations in cancer

Sequence variations from dbSNP and Humsavar for DMBT1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs7383 -- 122,643,591(-) ACCTC(A/G)CCCTG utr-variant-3-prime
rs8441 -- 122,643,428(-) CGCCC(C/T)GGTGG utr-variant-3-prime
rs760465 -- 122,631,564(+) tatga(C/T)agtac intron-variant
rs909459 -- 122,632,344(+) ATTCT(A/C)CACTG intron-variant
rs982656 -- 122,633,964(+) CCCCC(C/T)ATCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMBT1 Gene

Variant ID Type Subtype PubMed ID
nsv896063 CNV Gain 21882294
dgv322e1 CNV Complex 17122850
nsv428240 CNV Gain+Loss 18775914
esv23096 CNV Gain+Loss 19812545
nsv508611 CNV Loss 20534489
nsv8730 CNV Gain 18304495
nsv7581 CNV Loss 18451855
esv2742117 CNV Deletion 23290073
esv2742128 CNV Deletion 23290073
nsv55 CNV Insertion 15895083
nsv7582 CNV Insertion 18451855
nsv825595 CNV Gain 20364138
nsv8731 CNV Gain+Loss 18304495
nsv819547 CNV Gain 19587683
nsv499308 CNV Loss 21111241
esv2742140 CNV Deletion 23290073
nsv825596 CNV Loss 20364138
nsv436043 CNV Insertion 17901297
nsv442592 CNV CNV 18776908
esv2422149 CNV Deletion 20811451
esv2658567 CNV Deletion 23128226
nsv820718 CNV Deletion 20802225
dgv175n67 CNV Gain 20364138
dgv176n67 CNV Loss 20364138
esv33340 CNV Loss 17666407
nsv514541 CNV Complex 21397061
nsv7583 CNV Insertion 18451855
nsv507579 CNV Insertion 20534489
nsv56 CNV Loss 15895083
nsv821496 CNV Duplication 20802225
esv1000689 CNV Deletion 20482838
esv2742151 CNV Deletion 23290073
nsv499097 CNV Loss 21111241
esv2676690 CNV Deletion 23128226
nsv514542 CNV Complex 21397061
esv2742162 CNV Deletion 23290073

Relevant External Links for DMBT1 Gene

HapMap Linkage Disequilibrium report
DMBT1
Human Gene Mutation Database (HGMD)
DMBT1

Disorders for DMBT1 Gene

UniProtKB/Swiss-Prot

DMBT1_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for DMBT1 Gene

(28) Novoseek inferred disease relationships for DMBT1 Gene

Disease -log(P) Hits PubMed IDs
brain tumors 74.4 27
glioblastoma 62.4 6
glioblastoma multiforme 58.6 2
medulloblastoma 56.2 10
anaplastic astrocytoma 53.2 2

Relevant External Links for DMBT1

Genetic Association Database (GAD)
DMBT1
Human Genome Epidemiology (HuGE) Navigator
DMBT1
genes like me logo Genes that share disorders with DMBT1: view

Publications for DMBT1 Gene

  1. DMBT1, a new member of the SRCR superfamily on chromosome 10q25.3- q26.1 is deleted in malignant brain tumours. (PMID: 9288095) Mollenhauer J. … Poustka A. (Nat. Genet. 1997) 2 3 4 23
  2. Regulation of DMBT1 via NOD2 and TLR4 in intestinal epithelial cells modulates bacterial recognition and invasion. (PMID: 17548659) Rosenstiel P. … Schreiber S. (J. Immunol. 2007) 2 3 4 23
  3. DMBT1 confers mucosal protection in vivo and a deletion variant is associated with Crohn's disease. (PMID: 17983803) Renner M. … Mollenhauer J. (Gastroenterology 2007) 3 4 23 49
  4. gp340 expressed on human genital epithelia binds HIV-1 envelope protein and facilitates viral transmission. (PMID: 17709527) Stoddard E. … Weissman D. (J. Immunol. 2007) 3 4 23
  5. The N-terminal SRCR-SID domain of gp-340 interacts with HIV type 1 gp120 sequences and inhibits viral infection. (PMID: 16796526) Wu Z. … Malamud D. (AIDS Res. Hum. Retroviruses 2006) 3 4 23

Products for DMBT1 Gene

Sources for DMBT1 Gene

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