DIAPH3
entrez
81624
canonical
uniprot
Q9NSV4
canonical
ensembl
ENSG00000139734
resolver
ensp
ENSP00000267215
resolver
ensp
ENSP00000367141
resolver
ensp
ENSP00000383173
resolver
ensp
ENSP00000383174
resolver
ensp
ENSP00000383178
resolver
ensp
ENSP00000478137
resolver
ensp
ENSP00000479091
resolver
genesymbol
DIAPH3
resolver
genesymbol_syn
DIAP3
resolver
hgnc
HGNC:15480
resolver
uniprot
A2A3B8
resolver
uniprot
A2A3B9
resolver
uniprot
A2A3C0
resolver
uniprot
B4DPV3
resolver
uniprot
Q18P99
resolver
uniprot
Q18PA0
resolver
uniprot
Q18PA1
resolver
uniprot
Q2KPB6
resolver
uniprot
Q3ZK23
resolver
uniprot
Q5JTP8
resolver
uniprot
Q5T2S7
resolver
uniprot
Q5XKF6
resolver
uniprot
Q6MZF0
resolver
uniprot
Q6NUP0
resolver
uniprot
Q86VS4
resolver
uniprot
Q8NAV4
resolver
uniprot_entry
B4DPV3_HUMAN
resolver
uniprot_entry
DIAP3_HUMAN
resolver
uniprot_sec
A2A3B8
resolver
uniprot_sec
A2A3B9
resolver
uniprot_sec
A2A3C0
resolver
uniprot_sec
Q18P99
resolver
uniprot_sec
Q18PA0
resolver
uniprot_sec
Q18PA1
resolver
uniprot_sec
Q2KPB6
resolver
uniprot_sec
Q3ZK23
resolver
uniprot_sec
Q5JTP8
resolver
uniprot_sec
Q5T2S7
resolver
uniprot_sec
Q5XKF6
resolver
uniprot_sec
Q6MZF0
resolver
uniprot_sec
Q6NUP0
resolver
uniprot_sec
Q86VS4
resolver
uniprot_sec
Q8NAV4
resolver
amino_acid_sequence
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQVACMQLINALVTSPDDLDFRLHIRNEFMRCGLKEILPNLKCIKNDGLDIQLKVFDEHKEEDLFELSHRLEDIRAELDEAYDVYNMVWSTVKETRAEGYFISILQHLLLIRNDYFIRQQYFKLIDECVSQIVLHRDGMDPDFTYRKRLDLDLTQFVDICIDQAKLEEFEEKASELYKKFEKEFTDHQETQAELQKKEAKINELQAELQAFKSQFGALPADCNIPLPPSKEGGTGHSALPPPPPLPSGGGVPPPPPPPPPPPLPGMRMPFSGPVPPPPPLGFLGGQNSPPLPILPFGLKPKKEFKPEISMRRLNWLKIRPHEMTENCFWIKVNENKYENVDLLCKLENTFCCQQKERREEEDIEEKKSIKKKIKELKFLDSKIAQNLSIFLSSFRVPYEEIRMMILEVDETRLAESMIQNLIKHLPDQEQLNSLSQFKSEYSNLCEPEQFVVVMSNVKRLRPRLSAILFKLQFEEQVNNIKPDIMAVSTACEEIKKSKSFSKLLELVLLMGNYMNAGSRNAQTFGFNLSSLCKLKDTKSADQKTTLLHFLVEICEEKYPDILNFVDDLEPLDKASKVSVETLEKNLRQMGRQLQQLEKELETFPPPEDLHDKFVTKMSRFVISAKEQYETLSKLHENMEKLYQSIIGYYAIDVKKVSVEDFLTDLNNFRTTFMQAIKENIKKREAEEKEKRVRIAKELAERERLERQQKKKRLLEMKTEGDETGVMDNLLEALQSGAAFRDRRKRTPMPKDVRQSLSPMSQRPVLKVCNHENQKVQLTEGSRSHYNINCNSTRTPVAKELNYNLDTHTSTGRIKAAEKKEACNVESNRKKETELLGSFSKNESVPEVEALLARLRAL
uniprot
proteins
disease_involvement
DISEASE: Auditory neuropathy, autosomal dominant 1 (AUNA1) [MIM:609129]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. {ECO:0000269|PubMed:20624953}. Note=The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression. {ECO:0000269|PubMed:20624953}.
uniprot
proteins
function
FUNCTION: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. 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. {ECO:0000250|UniProtKB:Q9Z207}.
uniprot
proteins
mass_dalton
136926
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. {ECO:0000269|PubMed:19457867}.
uniprot
proteins
protein_family
Diaphanous subfamily
uniprot
proteins
protein_family
Formin homology family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18755006
uniprot
proteins
pubmed
19457867
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20624953
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
1193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18755006, ECO:0000269|PubMed:19457867}. Nucleus {ECO:0000250|UniProtKB:Q9Z207}. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis (PubMed:18755006, PubMed:19457867). Shuttles between the cytoplasm and the nucleus (By similarity). {ECO:0000250|UniProtKB:Q9Z207, ECO:0000269|PubMed:18755006, ECO:0000269|PubMed:19457867}.
uniprot
proteins