DENND5B is a 1,274 amino acid single-pass membrane protein containing a dDENN domain, a DENN domain, a PLAT domain, two RUN domains and an uDENN domain. Existing as four alternatively spliced isoforms, DENND5B is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding SLCtype lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
Subcellular Location:
Membrane; Single-pass membrane protein.
Similarity:
Belongs to the RAB6IP1 family.
Contains 1 dDENN domain.
Contains 1 DENN domain.
Contains 1 PLAT domain.
Contains 2 RUN domains.
Contains 1 uDENN domain.
SWISS:
Q6ZUT9
Gene ID:
160518
Database links:
Entrez Gene: 160518 Human
Entrez Gene: 64560 Mouse
SwissProt: Q6ZUT9 Human
SwissProt: A2RSQ0 Mouse
Unigene: 118166 Human
Unigene: 426874 Mouse
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