Diaph1 (diaphanous-related formin 1) - Rat Genome Database

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Gene: Diaph1 (diaphanous-related formin 1) Rattus norvegicus
Analyze
Symbol: Diaph1
Name: diaphanous-related formin 1
RGD ID: 1310707
Description: Predicted to enable several functions, including profilin binding activity; small GTPase binding activity; and transmembrane transporter binding activity. Involved in positive regulation of cell migration. Predicted to be located in several cellular components, including brush border; ruffle membrane; and spindle. Predicted to be active in actin filament. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss. Orthologous to human DIAPH1 (diaphanous related formin 1); PARTICIPATES IN E-cadherin signaling pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Diap1; diaphanous homolog 1; diaphanous homolog 1 (Drosophila); DRF1; LOC307483; mDIA1
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,920,889 - 30,020,280 (-)NCBIGRCr8
mRatBN7.21829,669,659 - 29,769,070 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,669,659 - 29,769,172 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,773,984 - 29,873,376 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,535,964 - 30,635,353 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,871,305 - 29,970,698 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,972,907 - 31,071,371 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,972,907 - 31,071,371 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,663,859 - 30,762,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,757,191 - 30,855,548 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,784,366 - 30,882,101 (-)NCBI
Celera1829,313,748 - 29,412,995 (-)NCBICelera
Cytogenetic Map18p11NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
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Original Reference(s)
Diaph1Ratsensorineural hearing loss susceptibilityISORGD:13217711601058autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutationRGD 
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Diaph1Ratautosomal dominant intellectual developmental disorder 31  ISORGD:13217718554872ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIESClinVarPMID:28492532
Diaph1Ratautosomal dominant nonsyndromic deafness 1  ISORGD:13217718554872ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar more ...ClinVarPMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:29758562|PMID:30311386|PMID:30896630|PMID:32678080|PMID:33057194|PMID:33176815|PMID:33229591|PMID:33662367|PMID:34125151|PMID:34279089|PMID:34515852|PMID:35307828|PMID:35982159|PMID:36118902|PMID:37086329|PMID:9360932|PMID:9536098
Diaph1Ratautosomal recessive nonsyndromic deafness 9  ISORGD:13217718554872ClinVar Annotator: match by term: Auditory neuropathy spectrum disorderClinVar 
Diaph1Ratbenign neonatal seizures  ISORGD:13217718554872ClinVar Annotator: match by term: Neonatal seizureClinVar 
Diaph1Ratbeta-mannosidosis  ISORGD:13217718554872ClinVar Annotator: match by term: Beta-D-mannosidosisClinVarPMID:28492532|PMID:30311386
Diaph1RatDeafness  ISORGD:13217718554872ClinVar Annotator: match by term: DeafnessClinVarPMID:25741868|PMID:26463574
Diaph1RatDevelopmental Disabilities  ISORGD:13217718554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:24781755|PMID:25558065|PMID:25741868
Diaph1Ratepilepsy  ISORGD:13217718554872ClinVar Annotator: match by term: Seizure DisordersClinVarPMID:24781755|PMID:25558065|PMID:25741868
Diaph1Ratepilepsy  ISORGD:13217718554872ClinVar Annotator: match by term: Seizure DisordersClinVarPMID:24781755|PMID:25558065|PMID:25741868|PMID:25741916
Diaph1RatFailure to Thrive  ISORGD:13217718554872ClinVar Annotator: match by term: Failure to thriveClinVarPMID:24781755|PMID:25558065|PMID:25741868
Diaph1Ratfamilial adenomatous polyposis 1  ISORGD:13217718554872ClinVar Annotator: match by term: Familial adenomatous polyposis 1ClinVarPMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
Diaph1Ratgenetic disease  ISORGD:13217718554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:22938506|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33057194
Diaph1RatHearing Loss  ISORGD:13217718554872ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing more ...ClinVarPMID:24033266|PMID:24781755|PMID:25741868|PMID:26463574|PMID:28492532|PMID:30311386|PMID:32581362
Diaph1RatHereditary Neoplastic Syndromes  ISORGD:13217718554872ClinVar Annotator: match by term: Hereditary cancer-predisposing syndromeClinVarPMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
Diaph1Ratmicrocephaly  ISORGD:13217718554872ClinVar Annotator: match by term: MicrocephalyClinVarPMID:24781755|PMID:25558065|PMID:25741868|PMID:28492532|PMID:34515852
Diaph1RatNeurodevelopmental Disorders  ISORGD:13217718554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
Diaph1RatPendred syndrome  ISORGD:13217718554872ClinVar Annotator: match by term: Pendred syndromeClinVarPMID:30311386
Diaph1RatSeizures, Cortical Blindness, and Microcephaly Syndrome  ISORGD:13217718554872ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndromeClinVarPMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:29758562|PMID:30311386|PMID:30896630|PMID:32678080|PMID:33057194|PMID:33176815|PMID:33229591|PMID:33662367|PMID:34125151|PMID:34279089|PMID:34515852|PMID:35307828|PMID:35982159|PMID:36118902|PMID:37086329|PMID:9360932|PMID:9536098
Diaph1Ratvascular dementia  ISORGD:13217718554872ClinVar Annotator: match by term: Vascular dementiaClinVarPMID:28492532|PMID:35307828
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Original Reference(s)
Diaph1Ratautosomal dominant nonsyndromic deafness 1  ISORGD:132177111554173CTD Direct Evidence: marker/mechanismCTD 
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Diaph1Ratautosomal dominant nonsyndromic deafness 1  ISORGD:13217717240710 OMIM 
Diaph1RatSeizures, Cortical Blindness, and Microcephaly Syndrome  ISORGD:13217717240710 OMIM 

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Original Reference(s)
Diaph1Rat1,2-dimethylhydrazine multiple interactionsISORGD:13217726480464[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of DIAPH1 mRNACTDPMID:22206623
Diaph1Rat1-chloro-2,4-dinitrobenzene affects bindingISORGD:13217716480464Dinitrochlorobenzene binds to DIAPH1 proteinCTDPMID:32991956
Diaph1Rat17beta-estradiol decreases expressionEXP 6480464Estradiol results in decreased expression of DIAPH1 mRNACTDPMID:32145629
Diaph1Rat17beta-estradiol increases expressionISORGD:13217716480464Estradiol results in increased expression of DIAPH1 mRNACTDPMID:31614463
Diaph1Rat17beta-estradiol increases expressionISORGD:13217726480464Estradiol results in increased expression of DIAPH1 mRNACTDPMID:39298647
Diaph1Rat2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:13217726480464Tetrachlorodibenzodioxin affects the expression of DIAPH1 mRNACTDPMID:21570461
Diaph1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of DIAPH1 mRNACTDPMID:33387578
Diaph1Rat2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of DIAPH1 mRNACTDPMID:34747641
Diaph1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionISORGD:13217726480464Tetrachlorodibenzodioxin results in decreased expression of DIAP1 mRNACTDPMID:26290441
Diaph1Rat2,4,6-tribromophenol decreases expressionISORGD:132177164804642,4,6-tribromophenol results in decreased expression of DIAPH1 mRNACTDPMID:31675489
Diaph1Rat2,4-dinitrotoluene affects expressionEXP 64804642,4-dinitrotoluene affects the expression of DIAPH1 mRNACTDPMID:21346803
Diaph1Rat2,6-dinitrotoluene affects expressionEXP 64804642,6-dinitrotoluene affects the expression of DIAPH1 mRNACTDPMID:21346803
Diaph1Rat2-palmitoylglycerol increases expressionISORGD:132177164804642-palmitoylglycerol results in increased expression of DIAPH1 mRNACTDPMID:37199045
Diaph1Rat3-chloropropane-1,2-diol increases expressionEXP 6480464alpha-Chlorohydrin results in increased expression of DIAPH1 proteinCTDPMID:34915118
Diaph1Rat3-isobutyl-1-methyl-7H-xanthine multiple interactionsISORGD:13217716480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
Diaph1Rat3-methylcholanthrene multiple interactionsISORGD:13217716480464Methylcholanthrene promotes the reaction [AHR protein binds to DIAPH1 promoter]CTDPMID:20348232
Diaph1Rat4,4'-sulfonyldiphenol multiple interactionsISORGD:13217716480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
Diaph1Rat4,4'-sulfonyldiphenol increases expressionISORGD:13217726480464bisphenol S results in increased expression of DIAPH1 mRNACTDPMID:39298647
Diaph1Rat4-vinylcyclohexene dioxide affects expressionISORGD:132177264804644-vinyl-1-cyclohexene dioxide affects the expression of DIAPH1 mRNACTDPMID:20829426
Diaph1Rat6-propyl-2-thiouracil increases expressionEXP 6480464Propylthiouracil results in increased expression of DIAPH1 mRNACTDPMID:22504374

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Biological Process
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Original Reference(s)
Diaph1Ratactin cytoskeleton organization involved_inIEAInterPro:IPR0104731600115GO_REF:0000002InterProGO_REF:0000002
Diaph1Ratactin cytoskeleton organization acts_upstream_of_or_withinISORGD:13217721624291 PMID:9214622RGDPMID:9214622
Diaph1Ratactin cytoskeleton organization involved_inISORGD:13217721624291 PMID:23558171RGDPMID:23558171
Diaph1Ratactin cytoskeleton organization involved_inISSUniProtKB:O088081600115GO_REF:0000024UniProtGO_REF:0000024
Diaph1Ratactin filament polymerization involved_inISSUniProtKB:O088081600115GO_REF:0000024UniProtGO_REF:0000024
Diaph1Ratactin filament polymerization involved_inISORGD:13217721624291 PMID:23558171RGDPMID:23558171
Diaph1Ratactin filament polymerization acts_upstream_of_or_withinISORGD:13217721624291 PMID:14992721RGDPMID:14992721
Diaph1Ratactin filament polymerization involved_inIBAMGI:1194490|MGI:1858500|MGI:1927222|PANTHER:PTN000575131|UniProtKB:A0A8M9PZW81600115GO_REF:0000033GO_CentralGO_REF:0000033
Diaph1Ratactin nucleation acts_upstream_of_or_withinISORGD:13217721624291 PMID:21278336RGDPMID:21278336
Diaph1Rataxon midline choice point recognition acts_upstream_of_or_withinISORGD:13217721624291MGI:1858500 PMID:23890216RGDPMID:23890216
Diaph1Ratbrain development involved_inISORGD:13217721624291 PMID:24781755RGDPMID:24781755
Diaph1Ratcellular response to histamine involved_inIEAUniProtKB:O60610|ensembl:ENSP000003737061600115GO_REF:0000107EnsemblGO_REF:0000107
Diaph1Ratcellular response to histamine involved_inISORGD:13217711624291 PMID:15123714RGDPMID:15123714
Diaph1Ratcytoskeleton organization involved_inISORGD:13217721624291 PMID:23558171RGDPMID:23558171
Diaph1Ratcytoskeleton organization involved_inIEAUniProtKB:O60610|ensembl:ENSP000003737061600115GO_REF:0000107EnsemblGO_REF:0000107
Diaph1Ratcytoskeleton organization involved_inISORGD:13217711624291 PMID:21834987RGDPMID:21834987
Diaph1Ratcytoskeleton organization involved_inISSUniProtKB:O088081600115GO_REF:0000024UniProtGO_REF:0000024
Diaph1Ratephrin receptor signaling pathway acts_upstream_of_or_withinISORGD:13217721624291MGI:1858500 PMID:23890216RGDPMID:23890216
Diaph1Ratgene expression acts_upstream_of_or_withinISORGD:13217721624291 PMID:21278336RGDPMID:21278336
Diaph1Ratmulticellular organismal locomotion acts_upstream_of_or_withinISORGD:13217721624291MGI:1858500 PMID:23890216RGDPMID:23890216
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Cellular Component
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Original Reference(s)
Diaph1Ratactin filament is_active_inIBAMGI:1927222|PANTHER:PTN000575131|WB:WBGene000190301600115GO_REF:0000033GO_CentralGO_REF:0000033
Diaph1Ratbrush border located_inISORGD:13217721624291 PMID:22114352RGDPMID:22114352
Diaph1Ratcell projection located_inIEAUniProtKB-KW:KW-09661600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratcentrosome located_inIEAUniProtKB-SubCell:SL-00481600115GO_REF:0000044UniProtGO_REF:0000044
Diaph1Ratcytoplasm located_inISORGD:13217721624291 PMID:23558171RGDPMID:23558171
Diaph1Ratcytoplasm located_inIEAUniProtKB-KW:KW-09631600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratcytoplasm located_inIEAUniProtKB-SubCell:SL-00861600115GO_REF:0000044UniProtGO_REF:0000044
Diaph1Ratcytoplasm located_inISSUniProtKB:O088081600115GO_REF:0000024UniProtGO_REF:0000024
Diaph1Ratcytoskeleton located_inIEAUniProtKB-KW:KW-02061600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratcytoskeleton located_inIEAUniProtKB-SubCell:SL-00901600115GO_REF:0000044UniProtGO_REF:0000044
Diaph1Ratmembrane located_inIEAUniProtKB-KW:KW-04721600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratmicrotubule cytoskeleton located_inISORGD:141985231624291 PMID:15123714RGDPMID:15123714
Diaph1Ratmitotic spindle located_inIEAUniProtKB:O60610|ensembl:ENSP000003737061600115GO_REF:0000107EnsemblGO_REF:0000107
Diaph1Ratmitotic spindle located_inISORGD:13217711624291 PMID:15123714RGDPMID:15123714
Diaph1Ratneuron projection located_inISORGD:13217721624291 PMID:18572016RGDPMID:18572016
Diaph1Ratnucleus located_inISSUniProtKB:O088081600115GO_REF:0000024UniProtGO_REF:0000024
Diaph1Ratnucleus located_inIEAUniProtKB-KW:KW-05391600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratnucleus located_inISORGD:13217721624291 PMID:23558171RGDPMID:23558171
Diaph1Ratnucleus located_inIEAUniProtKB-SubCell:SL-01911600115GO_REF:0000044UniProtGO_REF:0000044
Diaph1Ratplasma membrane located_inIEAUniProtKB-SubCell:SL-00391600115GO_REF:0000044UniProtGO_REF:0000044
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Molecular Function
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Original Reference(s)
Diaph1Ratactin binding enablesIEAInterPro:IPR010472|InterPro:IPR0104731600115GO_REF:0000002InterProGO_REF:0000002
Diaph1Ratactin binding enablesISORGD:13217721624291 PMID:14992721RGDPMID:14992721
Diaph1Ratactin binding enablesIEAUniProtKB-KW:KW-00091600115GO_REF:0000043UniProtGO_REF:0000043
Diaph1Ratidentical protein binding enablesISORGD:13217721624291UniProtKB:O08808 PMID:10559899, PMID:12906795, PMID:16472745RGDPMID:10559899|PMID:12906795|PMID:16472745
Diaph1Ratprofilin binding enablesISORGD:13217721624291 PMID:9214622RGDPMID:9214622
Diaph1Ratprotein binding enablesISORGD:13217711624291UniProtKB:O00212|UniProtKB:P08134|UniProtKB:P49593|UniProtKB:P61586|UniProtKB:Q15109|UniProtKB:Q9Q2G4 PMID:18218625, PMID:18230650, PMID:18922799, PMID:22190034, PMID:33961781RGDPMID:18218625|PMID:18230650|PMID:18922799|PMID:22190034|PMID:33961781
Diaph1Ratprotein binding enablesISORGD:13217721624291PR:B8QI33|PR:Q9QUI0|UniProtKB:P46940|UniProtKB:P61586|UniProtKB:Q0GNC1|UniProtKB:Q8BKX1|UniProtKB:Q8C8N2|UniProtKB:Q9Z0E0 PMID:10814512, PMID:17620407, PMID:18572016, PMID:19350017, PMID:21278336, PMID:22266902, PMID:9214622RGDPMID:10814512|PMID:17620407|PMID:18572016|PMID:19350017|PMID:21278336|PMID:22266902|PMID:9214622
Diaph1Ratsmall GTPase binding enablesIEAInterPro:IPR0104731600115GO_REF:0000002InterProGO_REF:0000002
Diaph1Ratsmall GTPase binding enablesISORGD:13217721624291 PMID:9214622RGDPMID:9214622
Diaph1Rattransmembrane transporter binding enablesIEAUniProtKB:O60610|ensembl:ENSP000003737061600115GO_REF:0000107EnsemblGO_REF:0000107
Diaph1Rattransmembrane transporter binding enablesISORGD:13217721624291UniProtKB:Q13563 PMID:15123714RGDPMID:15123714
Diaph1Rattransmembrane transporter binding enablesISORGD:13217711624291UniProtKB:Q13563 PMID:15123714RGDPMID:15123714
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Imported Annotations - PID (archival)

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Diaph1RatE-cadherin signaling pathway  ISORGD:13217716484113 PIDPID:200182

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#
Reference Title
Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
3. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Lynch ED, etal., Science. 1997 Nov 14;278(5341):1315-8.
4. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. GOA pipeline RGD automated data pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Comprehensive gene review and curation RGD comprehensive gene curation
11. The Rho-mDia1 pathway regulates cell polarity and focal adhesion turnover in migrating cells through mobilizing Apc and c-Src. Yamana N, etal., Mol Cell Biol. 2006 Sep;26(18):6844-58.
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PMID:9214622   PMID:10559899   PMID:12906795   PMID:14992721   PMID:15123714   PMID:16472745   PMID:17170370   PMID:18362183   PMID:18572016   PMID:18651670   PMID:20071339   PMID:20937854  
PMID:21834987   PMID:22114352   PMID:22658674   PMID:23558171   PMID:24781755   PMID:26912466   PMID:28877993   PMID:30358011  



Diaph1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,920,889 - 30,020,280 (-)NCBIGRCr8
mRatBN7.21829,669,659 - 29,769,070 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1829,669,659 - 29,769,172 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1829,773,984 - 29,873,376 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01830,535,964 - 30,635,353 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01829,871,305 - 29,970,698 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01830,972,907 - 31,071,371 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,972,907 - 31,071,371 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,663,859 - 30,762,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,757,191 - 30,855,548 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11830,784,366 - 30,882,101 (-)NCBI
Celera1829,313,748 - 29,412,995 (-)NCBICelera
Cytogenetic Map18p11NCBI
DIAPH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,515,021 - 141,619,000 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,515,016 - 141,619,055 (-)EnsemblGRCh38hg38GRCh38
GRCh375140,894,588 - 140,998,567 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,874,772 - 140,978,747 (-)NCBINCBI36Build 36hg18NCBI36
Build 345140,874,772 - 140,978,691NCBI
Celera5136,971,324 - 137,075,350 (-)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5136,039,428 - 136,143,262 (-)NCBIHuRef
CHM1_15140,327,865 - 140,431,904 (-)NCBICHM1_1
T2T-CHM13v2.05142,041,005 - 142,145,005 (-)NCBIT2T-CHM13v2.0
Diaph1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,976,654 - 38,068,573 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,976,654 - 38,068,529 (-)EnsemblGRCm39 Ensembl
GRCm381837,843,601 - 37,935,622 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,843,601 - 37,935,476 (-)EnsemblGRCm38mm10GRCm38
MGSCv371838,004,478 - 38,095,065 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,970,798 - 38,061,385 (-)NCBIMGSCv36mm8
Celera1839,188,303 - 39,278,736 (-)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.71NCBI
Diaph1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541512,156,152 - 12,272,961 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541512,156,152 - 12,272,961 (+)NCBIChiLan1.0ChiLan1.0
DIAPH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,764,381 - 136,867,993 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,960,673 - 135,007,628 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,876,396 - 136,980,097 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,990,248 - 143,092,558 (-)NCBIpanpan1.1PanPan1.1panPan2
DIAPH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1236,483,781 - 36,581,390 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl236,485,571 - 36,581,320 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha233,535,791 - 33,633,355 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0236,937,687 - 37,035,539 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl236,937,690 - 37,035,611 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1234,012,555 - 34,110,155 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,824,079 - 34,921,683 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0235,631,288 - 35,728,900 (-)NCBIUU_Cfam_GSD_1.0
Diaph1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213150,974,209 - 151,071,265 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650412,548,452 - 12,643,399 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650412,548,452 - 12,645,236 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIAPH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2143,158,585 - 143,271,147 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12143,158,691 - 143,271,110 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22149,363,162 - 149,473,567 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DIAPH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12344,139,495 - 44,244,505 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2344,139,360 - 44,244,490 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603433,608,326 - 33,713,597 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Diaph1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624774739,206 - 845,272 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624774738,717 - 845,187 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Diaph1
308 total Variants

Predicted Target Of
Summary Value
Count of predictions:235
Count of miRNA genes:103
Interacting mature miRNAs:109
Transcripts:ENSRNOT00000060432, ENSRNOT00000060433
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 36 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1331733Bp233Blood pressure QTL 2333.97196arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)182479697779788953Rat
1358358Sradr6Stress Responsive Adrenal Weight QTL 62.49adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)181194429959330563Rat
1331735Rf44Renal function QTL 442.981urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)181823456431359530Rat
61382Bp46Blood pressure QTL 4618.8arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)181194179131393320Rat
2301413Bp318Blood pressure QTL 3180.002arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)182654808246969551Rat
1331741Bp232Blood pressure QTL 2323.59112arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)182137289383213037Rat
61388Bp2Blood pressure QTL 23.23arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)18135374722Rat
6903359Bp355Blood pressure QTL 3553.6arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)181194454459796478Rat
12904668Bw188Body weight QTL 1880.03body mass (VT:0001259)body weight (CMO:0000012)182654808246969551Rat
2313082Bss85Bone structure and strength QTL 850.80.0001long bone metaphysis morphology trait (VT:0000133)tibia midshaft total cross-sectional area (CMO:0001715)181495133759951337Rat

1 to 10 of 36 rows
RH130783  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21829,770,659 - 29,770,857 (+)MAPPERmRatBN7.2
Rnor_6.01831,072,987 - 31,073,184NCBIRnor6.0
Rnor_5.01830,764,274 - 30,764,471UniSTSRnor5.0
RGSC_v3.41830,857,139 - 30,857,336UniSTSRGSC3.4
Celera1829,414,611 - 29,414,808UniSTS
RH 3.4 Map18444.2UniSTS
Cytogenetic Map18p11UniSTS
RH127883  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21829,669,684 - 29,669,893 (+)MAPPERmRatBN7.2
Rnor_6.01830,972,933 - 30,973,141NCBIRnor6.0
Rnor_5.01830,663,885 - 30,664,093UniSTSRnor5.0
RGSC_v3.41830,756,025 - 30,756,233UniSTSRGSC3.4
Celera1829,313,774 - 29,313,982UniSTS
Cytogenetic Map18p11UniSTS
BE119953  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2247,231,083 - 47,231,306 (+)MAPPERmRatBN7.2
mRatBN7.21829,730,201 - 29,730,413 (+)MAPPERmRatBN7.2
Rnor_6.01831,032,769 - 31,032,980NCBIRnor6.0
Rnor_6.0247,876,688 - 47,876,910NCBIRnor6.0
Rnor_5.01830,724,159 - 30,724,370UniSTSRnor5.0
Rnor_5.0266,264,138 - 66,264,360UniSTSRnor5.0
RGSC_v3.4246,345,568 - 46,345,790UniSTSRGSC3.4
RGSC_v3.41830,816,539 - 30,816,750UniSTSRGSC3.4
Celera1829,374,164 - 29,374,375UniSTS
Celera242,965,202 - 42,965,424UniSTS
RH 3.4 Map18428.3UniSTS
Cytogenetic Map18p11UniSTS
Cytogenetic Map2q14UniSTS
RH124673  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21829,669,710 - 29,670,024 (+)MAPPERmRatBN7.2
Rnor_6.01830,972,959 - 30,973,272NCBIRnor6.0
Rnor_5.01830,663,911 - 30,664,224UniSTSRnor5.0
RGSC_v3.41830,756,051 - 30,756,364UniSTSRGSC3.4
Celera1829,313,800 - 29,314,113UniSTS
Cytogenetic Map18p11UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31



Ensembl Acc Id: ENSRNOT00000060432   ⟹   ENSRNOP00000057176
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1829,669,659 - 29,769,044 (-)Ensembl
Rnor_6.0 Ensembl1830,972,907 - 31,071,371 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000102970   ⟹   ENSRNOP00000088426
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1829,669,659 - 29,769,172 (-)Ensembl
RefSeq Acc Id: NM_001107393   ⟹   NP_001100863
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81829,920,889 - 30,020,280 (-)NCBI
mRatBN7.21829,669,659 - 29,769,070 (-)NCBI
Rnor_6.01830,972,907 - 31,071,371 (-)NCBI
Rnor_5.01830,663,859 - 30,762,658 (-)NCBI
RGSC_v3.41830,757,191 - 30,855,548 (-)RGD
Celera1829,313,748 - 29,412,995 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001395102   ⟹   NP_001382031
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81829,920,889 - 30,020,280 (-)NCBI
mRatBN7.21829,669,659 - 29,769,070 (-)NCBI
Protein RefSeqs NP_001100863 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382031 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDL76410 (Get FASTA)   NCBI Sequence Viewer  
  EDL76411 (Get FASTA)   NCBI Sequence Viewer  
  EDL76412 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000057176
  ENSRNOP00000088426
GenBank Protein F1M775 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001100863   ⟸   NM_001107393
- Peptide Label: isoform 1
- UniProtKB: F1M775 (UniProtKB/Swiss-Prot),   A0A8L2QTN9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000057176   ⟸   ENSRNOT00000060432
Ensembl Acc Id: ENSRNOP00000088426   ⟸   ENSRNOT00000102970
RefSeq Acc Id: NP_001382031   ⟸   NM_001395102
- Peptide Label: isoform 2
- UniProtKB: F1M775 (UniProtKB/Swiss-Prot),   A0A8I6A828 (UniProtKB/TrEMBL)
DAD   FH1   FH2   GBD/FH3


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13700736
Promoter ID:EPDNEW_R11260
Type:initiation region
Name:Diaph1_1
Description:diaphanous-related formin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01831,071,369 - 31,071,429EPDNEW


1 to 40 of 41 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-7792 BioCyc
Ensembl Genes ENSRNOG00000019688 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000060432 ENTREZGENE
  ENSRNOT00000102970 ENTREZGENE
Gene3D-CATH 1.10.20.40 UniProtKB/Swiss-Prot
  1.20.1170.10 UniProtKB/Swiss-Prot
  1.20.58.2220 UniProtKB/Swiss-Prot
  1.20.58.630 UniProtKB/Swiss-Prot
  1.25.10.10 UniProtKB/Swiss-Prot
  6.10.30.30 UniProtKB/Swiss-Prot
  Formin, FH3 diaphanous domain UniProtKB/Swiss-Prot
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
  DAD_dom UniProtKB/Swiss-Prot
  DIA_GBD_sf UniProtKB/Swiss-Prot
  FH2_Formin UniProtKB/Swiss-Prot
  FH2_Formin_sf UniProtKB/Swiss-Prot
  FH3_dom UniProtKB/Swiss-Prot
  Formin_Homology_Diaphanous_sf UniProtKB/Swiss-Prot
  GBD/FH3_dom UniProtKB/Swiss-Prot
  GTPase-bd UniProtKB/Swiss-Prot
NCBI Gene 307483 ENTREZGENE
PANTHER PROTEIN DIAPHANOUS UniProtKB/Swiss-Prot
  PTHR45691:SF4 UniProtKB/Swiss-Prot
Pfam Drf_FH1 UniProtKB/Swiss-Prot
  Drf_FH3 UniProtKB/Swiss-Prot
  Drf_GBD UniProtKB/Swiss-Prot
  FH2 UniProtKB/Swiss-Prot
PhenoGen Diaph1 PhenoGen
PROSITE DAD UniProtKB/Swiss-Prot
  FH2 UniProtKB/Swiss-Prot
  GBD_FH3 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000019688 RatGTEx
SMART Drf_FH3 UniProtKB/Swiss-Prot
  Drf_GBD UniProtKB/Swiss-Prot
  FH2 UniProtKB/Swiss-Prot
Superfamily-SCOP Formin homology 2 domain (FH2 domain) UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot
UniProt A0A8I6A828 ENTREZGENE, UniProtKB/TrEMBL
  A0A8L2QTN9 ENTREZGENE, UniProtKB/TrEMBL
1 to 40 of 41 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-05 Diaph1  diaphanous-related formin 1  Diaph1  diaphanous homolog 1 (Drosophila)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-09-26 Diaph1  diaphanous homolog 1 (Drosophila)  Diap1  diaphanous homolog 1 (Drosophila)   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Diap1  diaphanous homolog 1 (Drosophila)   Diap1_predicted  diaphanous homolog 1 (Drosophila) (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Diap1_predicted  diaphanous homolog 1 (Drosophila) (predicted)      Symbol and Name status set to approved 70820 APPROVED