background:
DNMBP, also known as Scaffold protein TUBA, is a 1,577 amino acid protein that localizes to a variety of locations within the cell, including the cytoplasm, cytoskeleton, cell junction and Golgi apparatus, and contains one BAR domain, one DH domain and six SH3 domains. Expressed in kidney, heart, lung, liver, brain, pancreas and skeletal muscle, Tuba functions as a scaffold protein that links Dynamin with Actin-regulating proteins and is thought to play a role in protein trafficking between the golgi and the cell surface. Two isoforms of Tuba exist due to alternative splicing events. The gene encoding Tuba maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Function:
Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).
Subunit:
Binds DNM1 via its N-terminal SH3 domains. The SLCterminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin-regulatory proteins, such as ENAH, EVL, WASL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity). Interacts with FASLG.
Subcellular Location:
Cytoplasm (By similarity). Golgi apparatus, Golgi stack (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell junction, synapse (By similarity). Note=Localized to synapses and Golgi stacks (By similarity).
Tissue Specificity:
Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.
Similarity:
Contains 1 BAR domain.
Contains 1 DH (DBL-homology) domain.
Contains 6 SH3 domains.
Database links:
UniProtKB/Swiss-Prot: Q6XZF7.1
Entrez Gene: 23268 Human
Entrez Gene: 71972 Mouse
Entrez Gene: 309362 Rat
Omim: 611282 Human
SwissProt: Q6XZF7 Human
SwissProt: Q6TXD4 Mouse
Unigene: 500771 Human
Unigene: 159024 Mouse
Unigene: 11811 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
