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Details on Person UniProt:O60610 DIAPH1

Class:Id	ReferenceGeneProduct:53648
_chainChangeLog	chain:1-1272 added on Fri February 6 2015
_displayName	UniProt:O60610 DIAPH1
_timestamp	2024-11-03 20:18:46
chain	chain:1-1272
checksum	9C8273DE4748564F
comment	FUNCTION Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).SUBUNIT Homodimer (By similarity). Interacts with the GTP-bound form of RHOA (PubMed:23325789). Interacts with RHOC, PFY1, MAPRE1 and BAIAP2 (By similarity). Interacts with APC; acts as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain (By similarity). Interacts with NCDN (By similarity). Interacts with OSBPL10, OSBPL2, VIM, TUBB and DYN1 (PubMed:23325789).INTERACTION Membrane ruffles, especially at the tip of ruffles, of motile cells.ALTERNATIVE PRODUCTS Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed:26912466).DEVELOPMENTAL STAGE Strongly expressed in ventricular and subventricular zone progenitor cells of the neocortical wall at 12 weeks post-conception.DOMAIN The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain (By similarity). This autoinhibition is released upon competitive binding of an activated GTPase (By similarity). The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).PTM Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the formin homology family. Diaphanous subfamily.SEQUENCE CAUTION Intron retention.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION Gene page
description	recommendedName: Protein diaphanous homolog 1 alternativeName: Diaphanous-related formin-1 shortName: DRF1
geneName	DIAPH1 DIAP1
identifier	O60610
isSequenceChanged	FALSE
keyword	3D-structure Acetylation Actin-binding Alternative splicing Cell membrane Cell projection Coiled coil Cytoplasm Cytoskeleton Deafness Direct protein sequencing Disease variant Epilepsy Hearing Membrane Non-syndromic deafness Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	DIAPH1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:9004654] ENSEMBL:ENSG00000131504 DIAPH1 [Homo sapiens]
secondaryIdentifier	DIAP1_HUMAN A6NF18 B7ZKW2 E9PEZ2 Q17RN4 Q59FH8 Q9UC76
sequenceLength	1272
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:384892] UniProt:O60610-2 DIAPH1 [Homo sapiens] [ReferenceIsoform:401707] UniProt:O60610-1 DIAPH1 [Homo sapiens] [ReferenceIsoform:8970468] UniProt:O60610-3 DIAPH1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:5665970] DIAPH1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6801368] DIAPH1 [secretory granule membrane] [Homo sapiens] [EntityWithAccessionedSequence:6801388] DIAPH1 [ficolin-1-rich granule membrane] [Homo sapiens] [EntityWithAccessionedSequence:6801557] DIAPH1 [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:O60610 DIAPH1 (53648)