Reactome | UniProt:O60610 DIAPH1

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UniProt:O60610 DIAPH1 Show undefined attributes

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
crossReference	[DatabaseIdentifier:12393106] RefSeq:NP_005210.3 [DatabaseIdentifier:12393105] RefSeq:NP_001073280.1 [DatabaseIdentifier:12294042] Pharos - Targets:O60610 [DatabaseIdentifier:12277383] PRO:O60610 [DatabaseIdentifier:12232364] PDB:8FG1 [DatabaseIdentifier:12137449] Orphanet:DIAPH1 [DatabaseIdentifier:12133877] OpenTargets:ENSG00000131504 [DatabaseIdentifier:11849183] HPA:ENSG00000131504-DIAPH1 [DatabaseIdentifier:11833320] HMDB Protein:HMDBP08344 [DatabaseIdentifier:11811945] GlyGen:O60610 [DatabaseIdentifier:11796215] GeneCards:DIAPH1 [DatabaseIdentifier:11708755] ENSEMBL:ENST00000389054 [DatabaseIdentifier:11708756] ENSEMBL:ENST00000518047 [DatabaseIdentifier:11586057] ENSEMBL:ENSP00000428268 [DatabaseIdentifier:11586056] ENSEMBL:ENSP00000373706 [DatabaseIdentifier:11483782] ENSEMBL:ENSG00000131504
databaseName	UniProt
dbId	53648
description	recommendedName: Protein diaphanous homolog 1 alternativeName: Diaphanous-related formin-1 shortName: DRF1
displayName	UniProt:O60610 DIAPH1
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:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	DIAPH1
otherIdentifier	11745167_a_at 11745168_s_at 11745169_a_at 11745170_a_at 11745171_x_at 11745415_a_at 11745416_x_at 11753135_a_at 17000858 1729 209190_PM_s_at 209190_s_at 213514_PM_s_at 213514_s_at 215541_PM_s_at 215541_s_at 2878663 2878664 2878665 2878667 2878670 2878671 2878672 2878673 2878674 2878675 2878676 2878677 2878678 2878679 2878681 2878683 2878684 2878687 2878692 2878693 2878694 2878695 2878696 2878697 2878699 2878700 2878701 2878702 2878703 2878704 2878705 2878706 2878707 2878710 2878711 2878712 2878713 2878714 2878715 2878716 2878717 2878723 2878724 2878725 33920_at 8114658 A_23_P213344 A_24_P323104 A_33_P3243683 GE54439 GO:0003723 GO:0003779 GO:0005102 GO:0005515 GO:0005634 GO:0005737 GO:0005813 GO:0005815 GO:0005819 GO:0005829 GO:0005856 GO:0005884 GO:0005886 GO:0007010 GO:0007605 GO:0008092 GO:0008360 GO:0016020 GO:0016043 GO:0030036 GO:0030041 GO:0030667 GO:0031267 GO:0032587 GO:0032886 GO:0035372 GO:0042995 GO:0043226 GO:0044325 GO:0050877 GO:0051279 GO:0051493 GO:0071420 GO:0072686 GO:0101003 HMNXSV003048008 Hs.26584.1.S1_3p_a_at Hs.26584.2.S1_3p_a_at ILMN_1661554 ILMN_2321416 PH_hs_0028610 TC05001870.hg g2947237_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-6801388] DIAPH1 [ficolin-1-rich granule membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6801557] DIAPH1 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6801368] DIAPH1 [secretory granule membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5665970] DIAPH1 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12744196] UCSC:O60610 DIAPH1 [ReferenceDNASequence:12118100] OMIM:602121 DIAPH1 [ReferenceDNASequence:12063056] NCBI Gene:1729 DIAPH1 [ReferenceDNASequence:11978963] Monarch:1729 DIAPH1 [ReferenceDNASequence:11889076] KEGG:hsa:1729 DIAPH1 [ReferenceDNASequence:11827922] HGNC:2876 DIAPH1 [ReferenceDNASequence:11437529] dbSNP Gene:1729 DIAPH1 [ReferenceDNASequence:11425375] CTD Gene:1729 DIAPH1 [ReferenceDNASequence:11400383] COSMIC - genes:DIAPH1 DIAPH1 [ReferenceDNASequence:11349174] BioGPS Gene:1729 DIAPH1 [ReferenceDNASequence:ensembl:ENSG00000131504] ENSEMBL:ENSG00000131504 DIAPH1
referenceTranscript	[ReferenceRNASequence:12574860] RefSeq:NM_001079812.3 DIAPH1 [ReferenceRNASequence:12574861] RefSeq:NM_005219.4 DIAPH1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	DIAP1_HUMAN A6NF18 B7ZKW2 E9PEZ2 Q17RN4 Q59FH8 Q9UC76
sequenceLength	1272
species	[Species:48887] Homo sapiens
stId	uniprot:O60610
url	http://purl.uniprot.org/uniprot/O60610

Referrals

(interactor)	[UndirectedInteraction:11305483] UniProt:Q5S007 <-> UniProt:O60610 (IntAct) [UndirectedInteraction:11296181] UniProt:Q15109 <-> UniProt:O60610 (IntAct) [UndirectedInteraction:11257343] UniProt:P61586 <-> UniProt:O60610 (IntAct) [UndirectedInteraction:11212313] UniProt:P49593 <-> UniProt:O60610 (IntAct) [UndirectedInteraction:11149005] UniProt:P13569 <-> UniProt:O60610 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-6801388] DIAPH1 [ficolin-1-rich granule membrane] [EntityWithAccessionedSequence:R-HSA-6801557] DIAPH1 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-6801368] DIAPH1 [secretory granule membrane] [EntityWithAccessionedSequence:R-HSA-5665970] DIAPH1 [cytosol]

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