DENND1B

DENND1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3TW8
Identifiers
Aliases	DENND1B , C1ORF18, C1orf218, FAM31B, DENN domain containing 1B
External IDs	OMIM: 613292; MGI: 2447812; HomoloGene: 11739; GeneCards: DENND1B; OMA:DENND1B - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q31.3 Start 197,504,748 bp [1] End 197,775,696 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 E4 Start 138,891,173 bp [2] End 139,106,698 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa right ventricle mucosa of colon mucosa of paranasal sinus bone marrow cells 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 BioGPS 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 Species Human Mouse Entrez 163486 329260 Ensembl ENSG00000213047 ENSMUSG00000056268 UniProt Q6P3S1 Q3U1T9 RefSeq (mRNA) NM_001142795 NM_001195215 NM_001195216 NM_001300858 NM_019049 NM_144977 NM_001166501 NM_181347 NM_183217 RefSeq (protein) NP_001182144 NP_001182145 NP_001287787 NP_659414 NP_001159973 NP_851992 Location (UCSC) Chr 1: 197.5 – 197.78 Mb Chr 1: 138.89 – 139.11 Mb PubMed search [3] [4]
Wikidata
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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. GRCh38: Ensembl release 89: ENSG00000213047 – Ensembl, May 2017
2. 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". Archived from the original on 2013-02-13. Retrieved 2010-01-08.
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.