• Gene id: 1729

Gene Summary

• Gene Symbol: DIAPH1   Gene   UCSC   Ensembl
• Aliases: DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1
• Gene name: diaphanous related formin 1
• Alternate names: protein diaphanous homolog 1,
• Gene location: 5q31.3 (141619054: 141515015)     Exons: 30     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 602121

Protein Summary

• Protein general information: O60610  
  • Name: Protein diaphanous homolog 1 (Diaphanous related formin 1) (DRF1)
  • Length: 1272  
  • Mass: 141347
  • Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed
• Sequence:

  MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASY
  GDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQ
  ELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFM
  NNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD
  GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYD
  LKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADP
  DFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHS
  EKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP
  APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAI
  PPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPP
  PPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKT
  SKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE
  PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSN
  LLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRV
  SAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFD
  PKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD
  SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS

• Structural information:
  • Protein Domains: (84..44-)
    (/note="GBD/FH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00579-)
    (583..76-)
    (/note="FH1-)
    (769..117-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774-)
    (1194..122-)
    (/note="DAD-)
    (/evidence="ECO:0000255-)
  • Interpro: IPR011989  IPR016024  IPR014767  IPR010465  IPR015425   IPR042201  IPR010472  IPR027653  IPR009408  IPR014768  IPR010473  
  • Prosite: PS51231 PS51444 PS51232
  • STRING: ENSP00000381565
• Other Databases: GeneCards:  DIAPH1  Malacards:  DIAPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051493	regulation of cytoskeleton organization	IMP	biological process
GO:0030041	actin filament polymerization	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007010	cytoskeleton organization	IMP	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0032886	regulation of microtubule-based process	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030041	actin filament polymerization	IEA	biological process
GO:0016043	cellular component organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005102	signaling receptor binding	NAS	molecular function
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:2000145	regulation of cell motility	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0071420	cellular response to histamine	IMP	biological process
GO:0072686	mitotic spindle	IDA	cellular component
GO:0035372	protein localization to microtubule	IMP	biological process
GO:0051279	regulation of release of sequestered calcium ion into cytosol	IMP	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04933	AGE-RAGE signaling pathway in diabetic complications

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Macrothrombocytopenia	KEGG:H01740
Deafness, autosomal dominant	KEGG:H00604
Macrothrombocytopenia	KEGG:H01740
Sensorineural hearing loss	PMID:9360932
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray