RBCC Red Blood Cell Collection

DIAP1_HUMAN

Source: hRBCD ; ID: IPI00030876
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: DIAPH1 , DIAP1
Protein names and data: DIAP1_HUMAN , Protein diaphanous homolog 1 , Diaphanous-related formin-1; DRF1 Lenght: 1272 a.a.
Mass: 141347 Da
fasta formatted sequence
Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA- DIAPH1 signaling pathway plays an important role in ERBB2- dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
Disease: ( OMIM: 124900 602121 ) Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells.
Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea.

Database cross-references

UniProt: O60610
Ensembl: ENST00000389057
Ensembl: ENST00000398557
MIM: 124900
MIM: 602121
neXtProt: NX_O60610
Antibodypedia: O60610 (may not find the protein thus also not any antibody)
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