DENND1B

DENND1B
Identifiers
Aliases	DENND1B, C1ORF18, C1orf218, FAM31B, DENN domain containing 1B
External IDs	OMIM: 613292; MGI: 2447812; HomoloGene: 11739; GeneCards: DENND1B; OMA:DENND1B - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3TW8
Gene location (Human)
Chr.	Chromosome 1 (human)
End	197,775,696 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	139,106,698 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; right ventricle; ; mucosa of colon; ; mucosa of paranasal sinus; ; bone marrow cell; ; mucosa of sigmoid colon; ; renal medulla; ; buccal mucosa cell; ; oral cavity; ; trabecular bone;
	Top expressed in
	lymph node; ; mesenteric lymph nodes; ; utricle; ; epithelium of lens; ; blood; ; retinal pigment epithelium; ; Paneth cell; ; epithelium of small intestine; ; spermatid; ; vastus lateralis muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	guanyl-nucleotide exchange factor activity; phosphatidylinositol phosphate binding;
Cellular component	cytoplasm; cytoplasmic vesicle; clathrin-coated vesicle; cytosol; nuclear speck; intracellular membrane-bounded organelle;
Biological process	protein transport; T-helper 2 cell cytokine production; positive regulation of GTPase activity; T cell receptor signaling pathway; regulation of immune response; endocytic recycling; endocytosis;
	Sources:Amigo / QuickGO
Orthologs
	163486
	329260
	ENSG00000213047
	ENSMUSG00000056268
	Q6P3S1
	Q3U1T9
NM_001142795; NM_001195215; NM_001195216; NM_001300858; NM_019049;
	NM_144977
	NM_001166501; NM_181347; NM_183217
	NP_001182144; NP_001182145; NP_001287787; NP_659414
	NP_001159973; NP_851992
	Wikidata
View/Edit Human	View/Edit Mouse

DENN domain-containing protein 1B is a protein encoded by DENND1B human gene, located on chromosome 1.

Structure

The protein has tripartite DENN domain at N-terminal.

Functions

The protein is a guanine nucleotide exchange factor for RAB35.^[5]

Clinical significance

The gene is hypothesized by Danish scientists Klaus Bønnelykke and Hans Bisgaard to be related to asthma.^[6] The gene may affect susceptibility to chronic cavitary pulmonary aspergillosis.^[7] Variants of this gene are also associated with obesity in both humans and dogs.^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000213047 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056268 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Yoshimura S, et al. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors". Journal of Cell Biology. doi:10.1083/jcb.201008051.
↑ "Nyt genfund kan skåne børn for astma". Retrieved 2010-01-08.{{cite web}}: CS1 maint: deprecated archival service (link)
↑ Smith NL, Hankinson J, Simpson A, Denning DW, Bowyer P (November 2014). "Reduced expression of TLR3, TLR10 and TREM1 by human macrophages in Chronic cavitary pulmonary aspergillosis, and novel associations of VEGFA, DENND1B and PLAT". Clinical Microbiology and Infection. 20 (11): O960-8. doi:10.1111/1469-0691.12643. PMID 24712925.
↑ Wallis NJ, et al. "Canine genome-wide association study identifies DENND1B as an obesity gene in dogs and humans". Science. doi:10.1126/science.ads2145. PMC 7618706.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000213047 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056268 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Yoshimura S, et al. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors". Journal of Cell Biology. doi:10.1083/jcb.201008051.

[6] "Nyt genfund kan skåne børn for astma". Retrieved 2010-01-08.{{cite web}}: CS1 maint: deprecated archival service (link)

[7] Smith NL, Hankinson J, Simpson A, Denning DW, Bowyer P (November 2014). "Reduced expression of TLR3, TLR10 and TREM1 by human macrophages in Chronic cavitary pulmonary aspergillosis, and novel associations of VEGFA, DENND1B and PLAT". Clinical Microbiology and Infection. 20 (11): O960-8. doi:10.1111/1469-0691.12643. PMID 24712925.

[8] Wallis NJ, et al. "Canine genome-wide association study identifies DENND1B as an obesity gene in dogs and humans". Science. doi:10.1126/science.ads2145. PMC 7618706.

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