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DENND1B - DENN domain containing 1B Gene

Also Known as FAM31B; C1ORF18; C1orf218

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 163486

About DENND1B

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:197,504,748-197,782,150 (from NCBI)

This gene has 11 transcripts (splice variants), 226 orthologues and 2 paralogues. Ubiquitous expression in colon (RPKM 1.5), thyroid (RPKM 1.4) and 25 other tissues.

Summary

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1B Products (4)

mRNA	Protein	Name
NM_001195215.2	NP_001182144.1	DENN domain-containing protein 1B isoform 3
NM_001195216.2	NP_001182145.1	DENN domain-containing protein 1B isoform 4
NM_001300858.2	NP_001287787.1	DENN domain-containing protein 1B isoform 5
NM_144977.5	NP_659414.2	DENN domain-containing protein 1B isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	20937701	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in T cell receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	26774822	GOA
involved in positive regulation of T-helper 2 cell cytokine production	IMP IMP: Inferred from mutant phenotype	26774822	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DENND1B Protein Structure

uDENN

DENN

dDENN

0
100
200
300
400
426 a.a.

Protein Preferred Names	Protein Names
DENN domain-containing protein 1B	DENN/MADD domain containing 1B

Related Diseases

Diseases	Alias
Asthma	Chronic Obstructive Asthma Asthma, Diminished Response To Antileukotriene Treatment In Bronchial Hyperreactivity Asthma, Susceptibility To Asthma, Bronchial Asthma, Protection Against Asthma, Nocturnal, Susceptibility To Nocturnal Asthma Asthma-Related Traits Asthma-Related Traits, Susceptibility To Asthma, Nocturnal Chronic Obstructive Asthma With Acute Exacerbation Chronic Obstructive Asthma With Status Asthmaticus Exercise Induced Asthma Exercise-Induced Asthma Bronchial Asthma Asthma, Exercise-Induced Idiosyncratic Asthma Unspecified Asthma With Acute Exacerbation Asthma, Unspecified, With Stated Status Asthmaticus Status Asthmaticus Nos Acute Severe Asthma Acute Severe Bronchial Asthma Status Asthma Status Post Asthmaticus
Childhood-Onset Asthma	Childhood Asthma Asthma Childhood
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03686	DENND1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DENND1B	VGNC	VGNC:106709
Macaca mulatta	DENND1B	VGNC	VGNC:99884
Rattus norvegicus	DENND1B	RGD	RGD:1308441
Mus musculus	DENND1B	MGD	MGI:2447812
Canis familiaris	DENND1B	VGNC	VGNC:53340
Felis catus	DENND1B	VGNC	VGNC:107866