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DIAPH1 (diaphanous related formin 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1729
Gene nameGene Name - the full gene name approved by the HGNC.
Diaphanous related formin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DIAPH1
SynonymsGene synonyms aliases
DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphano
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs182139018 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs189809247 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs193036129 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign, benign Missense variant, coding sequence variant
rs200606811 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs367786290 T>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032344 hsa-let-7b-5p Proteomics 18668040
MIRT032344 hsa-let-7b-5p CLASH 23622248
MIRT051524 hsa-let-7e-5p CLASH 23622248
MIRT050684 hsa-miR-18a-5p CLASH 23622248
MIRT049688 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003779 Function Actin binding IEA
GO:0005102 Function Signaling receptor binding NAS 9360932
GO:0005515 Function Protein binding IPI 18218625, 18230650, 18922799, 22190034
GO:0005634 Component Nucleus ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O60610
Protein name Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)
Protein 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 depolymerizatio
PDB 8FG1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06371 Drf_GBD
84 268
Diaphanous GTPase-binding Domain
Family
PF06367 Drf_FH3
274 464
Diaphanous FH3 Domain
Family
PF06346 Drf_FH1
614 691
Repeat
PF06346 Drf_FH1
662 764
Repeat
PF02181 FH2
769 1146
Formin Homology 2 Domain
Family
PF06345 Drf_DAD
1197 1211
DRF Autoregulatory Domain
Motif
Sequence
MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKE
KEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIII
KREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWV
QTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEG
ILLLVRAMDPAVPNMMIDAAKLLSALCI
LPQPEDMNERVLEAMTERAEMDEVERFQPLLD
GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRV
QLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV
RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGL
IDQMIDKTKVEKSEAK
AAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAE
VSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP
APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEG
V
GIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPL
PGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLP
FGLTPKKLYKPEVQLR
RPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS
VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE
PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSV
TAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLL
HFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAAT
DEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHN
FRNMFL
QAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD
SLLEALQSGAA
FRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI
LEEAKELVGRAS
Sequence length 1272
Interactions View interactions

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