DENND1B - DENN domain containing 1B Gene

Also Known as FAM31B; C1ORF18; C1orf218

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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

uDENN: uDENN domain (28 - 87)

DENN

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

dDENN

dDENN: dDENN domain (324 - 388)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
Protein Preferred Names Protein Names

DENN domain-containing protein 1B

  • DENN/MADD domain containing 1B

関連疾患

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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS03686 DENND1B Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others DENND1B NCBI