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Diap1
Gene Detail
Symbol

Name
ID
Diap1
diaphanous homolog 1 (Drosophila)
MGI:1194490
Synonyms
D18Wsu154e, Dia1, Drf1, p140mDia
Feature Type
protein coding gene
Genetic Map
Chromosome 18
19.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr18:37843601-37935476 bp, - strand
From VEGA annotation of GRCm38

  91876 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:129567  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 western clawed frog

HCOP human homology predictions: DIAPH1
Gene Tree: Diap1

Human
homologs
DIAPH1, diaphanous-related formin 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1729
neXtProt AC: NX_O60610

Human Synonyms: DFNA1, DIA1, DRF1, hDIA1, LFHL1

Human Chr (Location): 5q31; chr5:141515016-141619055 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human DIAPH1

Mutations,
alleles, and
phenotypes
All mutations/alleles(112) : Gene trapped(107) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth.
 
Interactions
Diap1 interacts with 302 markers (Mir1b, Mir7-1, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process actin cytoskeleton organization, actin filament organization, ...
Component brush border, cell projection, ...
Function actin binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (6)    Tissues (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 6
cDNA source data(124)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase diaph1    NEW 
Molecular
reagents
All nucleic(128) cDNA(127) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000021095 (Evidence)
Ensembl Gene Model ENSMUSG00000024456 (Evidence)
Entrez Gene 13367 (Evidence)
UniGene 195916
DFCI TC1641595, TC1626264, TC1576657
DoTS DT.488922, DT.101741147, DT.101178148, DT.110785411, DT.101359579
NIA Mouse Gene Index U038352
PDB 3EG5, 2F31, 3OBV, 3O4X, 2V8F, 2BAP, 2BNX, 1Z2C, 1V9D
Consensus CDS Project CCDS57121.1
International Mouse Phenotyping Consortium Status Diap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021095 VEGA Gene Model | MGI Sequence Detail 91876 C57BL/6J ±  kb
transcript OTTMUST00000049938 VEGA | MGI Sequence Detail 5596 Not Applicable 
polypeptide OTTMUSP00000023231 VEGA | MGI Sequence Detail 1264 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(8) UniProt(11)
Polymorphisms
RFLP(1) : SNPs within 2kb(495 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015425 Actin-binding FH2
InterPro IPR016024 Armadillo-type fold
InterPro IPR014767 Diaphanous autoregulatory
InterPro IPR010472 Diaphanous FH3
InterPro IPR010473 Diaphanous GTPase-binding
InterPro IPR010465 DRF autoregulatory
InterPro IPR009408 Formin Homology 1
InterPro IPR014768 GTPase-binding/formin homology 3
Protein Ontology PR:000006475 protein diaphanous homolog 1
References
(Earliest) J:41124 Watanabe N, et al., p140mDia, a mammalian homolog of Drosophila diaphanous, is a target protein for Rho small GTPase and is a ligand for profilin. EMBO J. 1997 Jun 2;16(11):3044-56
(Latest) J:214460 Keerthivasan G, et al., Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS. Blood. 2014 Jul 31;124(5):780-90
All references(78)
Other
accession IDs
MGD-MRK-35685, MGI:107220

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory