DMBT1 deleted in malignant brain tumors 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DMBT1provided by HGNC
Official Full Name: deleted in malignant brain tumors 1provided by HGNC
Primary source: HGNC:HGNC:2926
See related: Ensembl:ENSG00000187908 MIM:601969; AllianceGenome:HGNC:2926
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAG; GP340; SALSA; muclin
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 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 encoded protein precursor 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, Mar 2016]
Expression: Biased expression in duodenum (RPKM 482.0), small intestine (RPKM 157.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 56

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (122560754..122643736)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (123456615..123518779)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (124320270..124403252)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Salivary Th17 cytokine, human beta-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.
Title: Salivary Th17 cytokine, human β-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.
Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer patients and controls.
Title: Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer patients and controls.
Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice.
Title: Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice.
Reg3A (regenerating family member 3 alpha) acts as a tumor suppressor by targeting DMBT1 (deleted in malignant brain tumors 1) in gastric cancer.
Title: Reg3A (regenerating family member 3 alpha) acts as a tumor suppressor by targeting DMBT1 (deleted in malignant brain tumors 1) in gastric cancer.
Isolation, identification, and characterization of the human airway ligand for the eosinophil and mast cell immunoinhibitory receptor Siglec-8.
Title: Isolation, identification, and characterization of the human airway ligand for the eosinophil and mast cell immunoinhibitory receptor Siglec-8.
Germline Missense Mutation of Deleted in Malignant Brain Tumor 1 (DMBT1) in Familial Mediastinal Neuroendocrine Cancer and in vitro Effects in Thyroid Cancer Cells.
Title: Germline Missense Mutation of Deleted in Malignant Brain Tumor 1 (DMBT1) in Familial Mediastinal Neuroendocrine Cancer and in vitro Effects in Thyroid Cancer Cells.
Extracellular vesicles from human urine-derived stem cells inhibit glucocorticoid-induced osteonecrosis of the femoral head by transporting and releasing pro-angiogenic DMBT1 and anti-apoptotic TIMP1.
Title: Extracellular vesicles from human urine-derived stem cells inhibit glucocorticoid-induced osteonecrosis of the femoral head by transporting and releasing pro-angiogenic DMBT1 and anti-apoptotic TIMP1.
Potential role of glycoprotein 340 in milder SARS-CoV-2 infection in children.
Title: Potential role of glycoprotein 340 in milder SARS-CoV-2 infection in children.
Structures of SALSA/DMBT1 SRCR domains reveal the conserved ligand-binding mechanism of the ancient SRCR fold.
Title: Structures of SALSA/DMBT1 SRCR domains reveal the conserved ligand-binding mechanism of the ancient SRCR fold.
DMBT1 suppresses cell proliferation, migration and invasion in ovarian cancer and enhances sensitivity to cisplatin through galectin-3/PI3k/Akt pathway.
Title: DMBT1 suppresses cell proliferation, migration and invasion in ovarian cancer and enhances sensitivity to cisplatin through galectin-3/PI3k/Akt pathway.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Aalanine substitution scan reveals amino acids D34, D35, N96, and E101 in gp340 are the critical residues interaction with HIV-1 gp120	PubMed
	env	HIV-1 gp120 binds peptides (residues 21-40, 66-85, and 91-109) derived from the first scavenger receptor cysteine rich domain (SRCR1) of gp340 with relative high affinity binding activity	PubMed
	env	A 35KDa purified recombinant N-terminal protein of gp340 (SAG) interacts with the V3 domain of HIV-1 gp120	PubMed
	env	The interaction of gp340 (SAG) with HIV-1 gp120 is enhanced by prebinding of sCD4 to gp120, suggesting that gp340 inhibitory activity is mediated by blocking access of gp120 to its chemokine coreceptor	PubMed
	env	Salivary agglutinin (SAG), a high molecular weight glycoprotein (340 kDa), binds to HIV-1 gp120; SAG binding to gp120 is Ca(2+) dependent and specifically inhibits HIV-1 infectivity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein binding	TAS Traceable Author Statement more info	PubMed
enables heparan sulfate binding	IDA Inferred from Direct Assay more info	PubMed
enables lipopolysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables lipoteichoic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scavenger receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables scavenger receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables scavenger receptor activity	TAS Traceable Author Statement more info	PubMed
enables zymogen binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in induction of bacterial agglutination	IDA Inferred from Direct Assay more info	PubMed
involved_in induction of bacterial agglutination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in induction of bacterial agglutination	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in zymogen granule membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: scavenger receptor cysteine-rich domain-containing protein DMBT1

Names: glycoprotein 340; hensin; salivary agglutinin; salivary scavenger and agglutinin; surfactant pulmonary-associated D-binding protein; vomeroglandin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012644.1 RefSeqGene

Range

5090..88072

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320644.2 → NP_001307573.1 scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform d precursor

Status: REVIEWED

Source sequence(s)

AJ243212, AJ297935, AL603764, BX640988

UniProtKB/TrEMBL

A0A590UJ76

Conserved Domains (6) summary

smart00042
Location:1775 → 1874

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

smart00202
Location:993 → 1093

SR; Scavenger receptor Cys-rich

smart00241
Location:2126 → 2378

ZP; Zona pellucida (ZP) domain

cd00041
Location:2007 → 2115

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00100
Location:2232 → 2378

Zona_pellucida; Zona pellucida-like domain

pfam00530
Location:738 → 833

SRCR; Scavenger receptor cysteine-rich domain
NM_001377530.1 → NP_001364459.1 scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform e precursor

Status: REVIEWED

Source sequence(s)

AL603764

Consensus CDS

CCDS91368.1

Related

ENSP00000342210.4, ENST00000338354.10
NM_004406.3 → NP_004397.2 scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform a precursor

Status: REVIEWED

Source sequence(s)

AL603764

Consensus CDS

CCDS44491.1

UniProtKB/TrEMBL

A0A590UJZ9

Related

ENSP00000357952.2, ENST00000368956.6

Conserved Domains (5) summary

smart00202
Location:494 → 594

SR; Scavenger receptor Cys-rich

smart00241
Location:1499 → 1751

ZP; Zona pellucida (ZP) domain

cd00041
Location:1138 → 1248

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00100
Location:1605 → 1751

Zona_pellucida; Zona pellucida-like domain

pfam00530
Location:499 → 594

SRCR; Scavenger receptor cysteine-rich domain
NM_007329.3 → NP_015568.2 scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform b precursor

See identical proteins and their annotated locations for NP_015568.2

Status: REVIEWED

Source sequence(s)

AL603764

Consensus CDS

CCDS44490.1

UniProtKB/Swiss-Prot

A6NDG4, A6NDJ5, A8E4R5, B1ARE7, B1ARE8, B1ARE9, B1ARF0, B7Z8Y2, F8WEF7, Q59EX0, Q5JR26, Q6MZN4, Q96DU4, Q9UGM2, Q9UGM3, Q9UJ57, Q9UKJ4, Q9Y211, Q9Y4V9

Related

ENSP00000357905.3, ENST00000368909.7

Conserved Domains (6) summary

smart00042
Location:1775 → 1874

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

smart00202
Location:993 → 1093

SR; Scavenger receptor Cys-rich

smart00241
Location:2127 → 2379

ZP; Zona pellucida (ZP) domain

cd00041
Location:2008 → 2116

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00100
Location:2233 → 2379

Zona_pellucida; Zona pellucida-like domain

pfam00530
Location:738 → 833

SRCR; Scavenger receptor cysteine-rich domain
NM_017579.3 → NP_060049.2 scavenger receptor cysteine-rich domain-containing protein DMBT1 isoform c precursor

Status: REVIEWED

Source sequence(s)

AL603764

Consensus CDS

CCDS44492.1

UniProtKB/Swiss-Prot

Q9UGM3

Related

ENSP00000357951.3, ENST00000368955.7

Conserved Domains (6) summary

smart00042
Location:1765 → 1864

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

smart00202
Location:983 → 1083

SR; Scavenger receptor Cys-rich

smart00241
Location:2117 → 2369

ZP; Zona pellucida (ZP) domain

cd00041
Location:1998 → 2106

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00100
Location:2223 → 2369

Zona_pellucida; Zona pellucida-like domain

pfam00530
Location:728 → 823

SRCR; Scavenger receptor cysteine-rich domain