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Aliases for DIAPH1 Gene

Aliases for DIAPH1 Gene

  • Diaphanous Related Formin 1 2 3 5
  • DRF1 3 4
  • Diaphanous (Drosophila, Homolog) 1 2
  • Diaphanous Homolog 1 (Drosophila) 2
  • Diaphanous-Related Formin 1 3
  • Diaphanous-Related Formin-1 4
  • LFHL1 3
  • SCBMS 3
  • HDIA1 3
  • DFNA1 3
  • DIAP1 4
  • DIA1 3

External Ids for DIAPH1 Gene

Previous HGNC Symbols for DIAPH1 Gene

  • DFNA1

Previous GeneCards Identifiers for DIAPH1 Gene

  • GC05M140711
  • GC05M140877
  • GC05M140923
  • GC05M140875
  • GC05M136039

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 AGE-RAGE signaling pathway in diabetic complications and Focal Adhesion. GO annotations related to this gene include poly(A) RNA binding and nucleotide binding. An important paralog of this gene is FMNL2.

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 (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755).

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

Regulatory Elements for DIAPH1 Gene

Enhancers for DIAPH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DIAPH1 on UCSC Golden Path with GeneCards custom track

Promoters for DIAPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DIAPH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIAPH1 Gene

Chromosome:
5
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

Genes around DIAPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIAPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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). Interacts with RHOA, OSBPL10, OSBPL2, VIM, TUBB and DYN1 (PubMed:23325789).
    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

  • Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.
  • Ubiquitination at Lys 311, Lys 486, Lys 774, Lys 855, Lys 1224, and Lys 1239
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DIAPH1 Gene

Domains & Families for DIAPH1 Gene

Graphical View of Domain Structure for InterPro Entry

O60610

UniProtKB/Swiss-Prot:

DIAP1_HUMAN :
  • 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).
  • Belongs to the formin homology family. Diaphanous subfamily.
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).
  • Contains 1 DAD (diaphanous autoregulatory) domain.
  • Contains 1 FH1 (formin homology 1) domain.
  • Contains 1 FH2 (formin homology 2) domain.
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.
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 (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755).

Gene Ontology (GO) - Molecular Function for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding NAS 9360932
genes like me logo Genes that share ontologies with DIAPH1: view
genes like me logo Genes that share phenotypes with DIAPH1: view

Human Phenotype Ontology for DIAPH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIAPH1 Gene

MGI Knock Outs for DIAPH1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells. {ECO:0000250 UniProtKB:O08808}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIAPH1 Gene COMPARTMENTS Subcellular localization image for DIAPH1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 2

Gene Ontology (GO) - Cellular Components for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072686 mitotic spindle IDA 15123714
genes like me logo Genes that share ontologies with DIAPH1: view

Pathways & Interactions for DIAPH1 Gene

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

Gene Ontology (GO) - Biological Process for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008360 regulation of cell shape IMP 21834987
GO:0016043 cellular component organization IEA --
GO:0030041 actin filament polymerization IEA --
GO:0030335 positive regulation of cell migration IEA --
genes like me logo Genes that share ontologies with DIAPH1: view

No data available for SIGNOR curated interactions for DIAPH1 Gene

Drugs & Compounds for DIAPH1 Gene

(1) Drugs for DIAPH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
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 (x5.0) and Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for DIAPH1 Gene

This gene is overexpressed in Lymph node (17.6), Peripheral blood mononuclear cells (16.8), and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DIAPH1: view

Protein tissue co-expression partners for DIAPH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DIAPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIAPH1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DIAPH1 35
  • 92.65 (n)
  • 95.74 (a)
DIAPH1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Diap1 35
  • 86.19 (n)
  • 90.06 (a)
Diaph1 16
Diap1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DIAPH1 35
  • 98.8 (n)
  • 98.41 (a)
rat
(Rattus norvegicus)
Mammalia Diaph1 35
  • 87.93 (n)
  • 91.49 (a)
cow
(Bos Taurus)
Mammalia DIAPH1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DIAPH1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIAPH1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diaph1 35
  • 67.99 (n)
  • 71.46 (a)
Str.15019 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16463 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01057928.1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dia 37
  • 44 (a)
dia 35
  • 51.33 (n)
  • 40.91 (a)
dia 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cyk-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs740474 -- 141,545,795(+) tctgc(C/T)ggcat intron-variant
rs122752 -- 141,527,139(-) TCCCA(C/G)CAACT intron-variant
rs1035468 -- 141,603,998(+) GGGCT(A/G)AGGAT intron-variant
rs1046425 -- 141,515,086(-) GGCTT(C/T)TGGGA utr-variant-3-prime
rs166116 -- 141,525,582(-) TTGTA(C/T)GCACA 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

Variation tolerance for DIAPH1 Gene

Residual Variation Intolerance Score: 21.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIAPH1 Gene

HapMap Linkage Disequilibrium report
DIAPH1
Human Gene Mutation Database (HGMD)
DIAPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIAPH1 Gene

Disorders for DIAPH1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DIAPH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 1
  • deafness, autosomal dominant, 1
dfna 1 nonsyndromic hearing loss and deafness
  • dfna1 nonsyndromic hearing loss and deafness
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
deafness and hereditary hearing loss
  • hereditary hearing loss and deafness
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:9360932}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, cortical blindness, microcephaly syndrome (SCBMS) [MIM:616632]: A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, short stature, and cortical blindness. {ECO:0000269 PubMed:24781755, ECO:0000269 PubMed:26463574}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DIAPH1

Genetic Association Database (GAD)
DIAPH1
Human Genome Epidemiology (HuGE) Navigator
DIAPH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIAPH1
genes like me logo Genes that share disorders with DIAPH1: view

No data available for Genatlas for DIAPH1 Gene

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 67
  2. Functional interactions between phosphatase POPX2 and mDia modulate RhoA pathways. (PMID: 18230650) Xie Y. … Koh C.G. (J. Cell. Sci. 2008) 3 23
  3. Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. (PMID: 17182868) Carreira S. … Goding C.R. (Genes Dev. 2006) 3 23
  4. The gene for an inherited form of deafness maps to chromosome 5q31. (PMID: 1350680) Leon P.E. … King M.C. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3
  5. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. (PMID: 24781755) Ercan-Sencicek A.G. … State M.W. (Eur. J. Hum. Genet. 2015) 3

Products for DIAPH1 Gene

Sources for DIAPH1 Gene

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