1. Gene
  2. DENND1B - DENN domain containing 1B Gene

DENND1B - DENN domain containing 1B Gene

Homo sapiens

Also known as FAM31B; C1ORF18; C1orf218

Gene ID: 163486 | Gene type: protein coding

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

DENND1B Protein Structure

uDENN

uDENN: uDENN domain (28 - 87)

DENN

DENN: DENN (AEX-3) domain (94 - 291)

dDENN

dDENN: dDENN domain (324 - 388)

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  • 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

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