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Aliases for DIAPH1 Gene

Aliases for DIAPH1 Gene

  • Diaphanous-Related Formin 1 2 3
  • Diaphanous-Related Formin-1 3 4
  • LFHL1 3 6
  • DFNA1 3 6
  • DRF1 3 4
  • Diaphanous (Drosophila, Homolog) 1 2
  • Diaphanous Homolog 1 (Drosophila) 2
  • Protein Diaphanous Homolog 1 3
  • Diaphanous Homolog 1 3
  • HDIA1 3
  • DIAP1 4
  • DIA1 3

External Ids for DIAPH1 Gene

Previous Symbols for DIAPH1 Gene

  • DFNA1

Summaries for DIAPH1 Gene

Entrez Gene Summary for DIAPH1 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 diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DIAPH1 Gene

DIAPH1 (Diaphanous-Related Formin 1) is a Protein Coding gene. Diseases associated with DIAPH1 include deafness, autosomal dominant 1 and dfna 1 nonsyndromic hearing loss and deafness. Among its related pathways are Regulation of actin cytoskeleton and PAK Pathway. GO annotations related to this gene include identical protein binding and receptor binding. An important paralog of this gene is FMN2.

UniProtKB/Swiss-Prot for DIAPH1 Gene

  • Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Wiki entry for DIAPH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIAPH1 Gene

Genomics for DIAPH1 Gene

Genomic Location for DIAPH1 Gene

Start:
141,515,016 bp from pter
End:
141,619,055 bp from pter
Size:
104,040 bases
Orientation:
Minus strand

Genomic View for DIAPH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DIAPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIAPH1 Gene

Proteins for DIAPH1 Gene

  • Protein details for DIAPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60610-DIAP1_HUMAN
    Recommended name:
    Protein diaphanous homolog 1
    Protein Accession:
    O60610
    Secondary Accessions:
    • A6NF18
    • B7ZKW2
    • E9PEZ2
    • Q17RN4
    • Q59FH8
    • Q9UC76

    Protein attributes for DIAPH1 Gene

    Size:
    1272 amino acids
    Molecular mass:
    141347 Da
    Quaternary structure:
    • Homodimer. Interacts with the GTP-bound form of RHOA. Interacts with RHOC, PFY1, MAPRE1, BAIAP2 and APC. Interacts with SCAI (By similarity). Interacts with DCAF7, via FH2 domain. Interacts with NCDN (By similarity).
    SequenceCaution:
    • Sequence=BAB14533.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD92719.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DIAPH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIAPH1 Gene

Proteomics data for DIAPH1 Gene at MOPED

Post-translational modifications for DIAPH1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys311, Lys486, Lys774, Lys855, Lys1224, and Lys1239

No data available for DME Specific Peptides for DIAPH1 Gene

Domains for DIAPH1 Gene

UniProtKB/Swiss-Prot:

DIAP1_HUMAN
Domain:
  • The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).:
    • O60610
  • Contains 1 DAD (diaphanous autoregulatory) domain.:
    • O60610
  • Contains 1 FH1 (formin homology 1) domain.:
    • O60610
  • Contains 1 FH2 (formin homology 2) domain.:
    • O60610
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.:
    • O60610
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.:
    • O60610
genes like me logo Genes that share domains with DIAPH1: view

No data available for Gene Families for DIAPH1 Gene

Function for DIAPH1 Gene

Molecular function for DIAPH1 Gene

GENATLAS Biochemistry: Drosophila diaphanous homolog 1,widely expressed in cochlea and many tissues,formin family,acting as a RHO effector and involved in cytokinesis,mutated in DFNA1
UniProtKB/Swiss-Prot Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Ontology (GO) - Molecular Function for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003779 actin binding IEA --
GO:0005102 receptor binding NAS 9360932
GO:0005488 binding --
GO:0005515 protein binding IPI 18218625
genes like me logo Genes that share ontologies with DIAPH1: view
genes like me logo Genes that share phenotypes with DIAPH1: view

Animal Models for DIAPH1 Gene

MGI Knock Outs for DIAPH1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DIAPH1 Gene

Localization for DIAPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIAPH1 Gene

Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIAPH1 Gene COMPARTMENTS Subcellular localization image for DIAPH1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0032587 ruffle membrane IEA --
GO:0043005 neuron projection IEA --
GO:0072686 mitotic spindle IDA 15123714
genes like me logo Genes that share ontologies with DIAPH1: view

Pathways for DIAPH1 Gene

genes like me logo Genes that share pathways with DIAPH1: view

Pathways by source for DIAPH1 Gene

Gene Ontology (GO) - Biological Process for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007605 sensory perception of sound IEA --
GO:0008360 regulation of cell shape IMP 21834987
GO:0016043 cellular component organization --
genes like me logo Genes that share ontologies with DIAPH1: view

Compounds for DIAPH1 Gene

(1) HMDB Compounds for DIAPH1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with DIAPH1: view

Transcripts for DIAPH1 Gene

Unigene Clusters for DIAPH1 Gene

Diaphanous homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^
SP1: - -
SP2: -
SP3:
SP4: -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 22 ^ 23 ^ 24a · 24b · 24c
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8: -

Relevant External Links for DIAPH1 Gene

GeneLoc Exon Structure for
DIAPH1
ECgene alternative splicing isoforms for
DIAPH1

Expression for DIAPH1 Gene

mRNA expression in normal human tissues for DIAPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DIAPH1 Gene

This gene is overexpressed in Muscle - Skeletal (5.0) and Whole Blood (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DIAPH1 Gene

SOURCE GeneReport for Unigene cluster for DIAPH1 Gene Hs.529451

mRNA Expression by UniProt/SwissProt for DIAPH1 Gene

O60610-DIAP1_HUMAN
Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea
genes like me logo Genes that share expressions with DIAPH1: view

Orthologs for DIAPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIAPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DIAPH1 36
  • 98.8 (n)
  • 98.41 (a)
cow
(Bos Taurus)
Mammalia DIAPH1 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIAPH1 36
  • 92.65 (n)
  • 95.74 (a)
DIAPH1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap1 36
  • 86.19 (n)
  • 90.06 (a)
Diap1 16
Diap1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIAPH1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH1 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Diaph1 36
  • 87.93 (n)
  • 91.49 (a)
lizard
(Anolis carolinensis)
Reptilia DIAPH1 37
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16463 36
tropical clawed frog
(Silurana tropicalis)
Amphibia diaph1 36
  • 67.99 (n)
  • 71.46 (a)
Str.15019 36
zebrafish
(Danio rerio)
Actinopterygii CABZ01057928.1 37
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dia 36
  • 51.33 (n)
  • 40.91 (a)
dia 37
  • 39 (a)
OneToMany
dia 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea cyk-1 37
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToMany
Species with no ortholog for DIAPH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DIAPH1 Gene

ENSEMBL:
Gene Tree for DIAPH1 (if available)
TreeFam:
Gene Tree for DIAPH1 (if available)

Paralogs for DIAPH1 Gene

Paralogs for DIAPH1 Gene

genes like me logo Genes that share paralogs with DIAPH1: view

Variants for DIAPH1 Gene

Sequence variations from dbSNP and Humsavar for DIAPH1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs122752 -- 141,527,139(-) TCCCA(C/G)CAACT intron-variant
rs166116 -- 141,525,582(-) TTGTA(C/T)GCACA intron-variant
rs171638 -- 141,540,814(+) cagca(C/T)tttgg intron-variant
rs181838 -- 141,595,736(+) ccttt(A/G)taaat intron-variant
rs193945 -- 141,585,279(+) CAGAT(A/T)AACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIAPH1 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV Gain 19812545
nsv516495 CNV Gain+Loss 19592680
nsv5033 CNV Insertion 18451855

Relevant External Links for DIAPH1 Gene

HapMap Linkage Disequilibrium report
DIAPH1
Human Gene Mutation Database (HGMD)
DIAPH1
Locus Specific Mutation Databases (LSDB)
DIAPH1

Disorders for DIAPH1 Gene

(1) OMIM Diseases for DIAPH1 Gene (602121)

UniProtKB/Swiss-Prot

DIAP1_HUMAN
  • Deafness, autosomal dominant, 1 (DFNA1) [MIM:124900]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DIAPH1 Gene

(3) Novoseek inferred disease relationships for DIAPH1 Gene

Disease -log(P) Hits PubMed IDs
melanoma 5.3 1
tumors 0 1
cancer 0 1

Relevant External Links for DIAPH1

Genetic Association Database (GAD)
DIAPH1
Human Genome Epidemiology (HuGE) Navigator
DIAPH1
genes like me logo Genes that share disorders with DIAPH1: view

Publications for DIAPH1 Gene

  1. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (PMID: 9360932) Lynch E.D. … King M.-C. (Science 1997) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. (PMID: 17182868) Carreira S. … Goding C.R. (Genes Dev. 2006) 3 23
  4. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4
  5. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PMID: 17370265) Denis N.J. … Figeys D. (Proteomics 2007) 3 4

Products for DIAPH1 Gene

Sources for DIAPH1 Gene

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