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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
  • Protein Diaphanous Homolog 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 Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1. Among its related pathways are AGE/RAGE pathway and Focal Adhesion. GO annotations related to this gene include poly(A) RNA binding and nucleotide binding. An important paralog of this gene is DIAPH2.

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

Additional gene information for DIAPH1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H141506 2 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +102.6 102577 20 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 PCDHGC4 DIAPH1 PCDHGB6 PCDHGA2 PCDHGC5 PCDHGA11 RN7SL68P PCDHGC3 PCDHGB7 PCDHGA10
GH05H141601 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +13.1 13069 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 CBX5 ZNF143 RELL2 HDAC3 FCHSD1 DIAPH1 LOC100505658 PCDHGA6 PCDHGB6 KIAA0141 PCDHGA1 PCDH12
GH05H141589 1.1 Ensembl ENCODE 13.3 +28.7 28678 1 ELF3 FOXA2 MLX RAD21 RARA YY1 CREM MIXL1 THAP11 CEBPB LOC102723915 DIAPH1 HDAC3 RELL2 FCHSD1 LOC100505658 RPS27AP10 GC05P142110
GH05H141592 1.1 ENCODE dbSUPER 13.3 +26.8 26847 0 CTCF FOXA2 SAP130 ARID4B MAX BATF RAD21 ZNF664 ZNF121 CC2D1A FCHSD1 LOC102723915 DIAPH1 HDAC3 RELL2 RPS27AP10 GC05P142110
GH05H141527 1.2 Ensembl ENCODE dbSUPER 11.2 +89.8 89813 2 NR2F1 HLF JUNB BATF RELA JUND POLR2A EED IKZF1 FOS PCDHGB6 PCDHGA11 PCDHGB7 PCDHGA10 PCDHGC4 LOC100505658 DIAPH1 PCDHGC5 PCDHGA7 PCDHGB4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000187890 555 1801 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A ZNF610

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

Post-translational modifications for DIAPH1 Gene

  • Phosphorylation at Thr-768 is stimulated by cAMP and regulates stability, complex formation and mitochondrial movement.
  • Ubiquitination at isoforms=2, 3311, isoforms=2, 3486, posLast=774774, posLast=855855, isoforms=2, 31224, and isoforms=2, 31239
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DIAPH1 (Diaphanous-1)

No data available for DME Specific Peptides for DIAPH1 Gene

Domains & Families for DIAPH1 Gene

Gene Families for DIAPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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).
Family:
  • Belongs to the formin homology family. Diaphanous subfamily.
genes like me logo Genes that share domains with DIAPH1: view

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).

Phenotypes From GWAS Catalog for DIAPH1 Gene

Gene Ontology (GO) - Molecular Function for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003779 actin binding IEA --
GO:0005102 receptor binding NAS 9360932
GO:0005515 protein binding IPI 18218625
GO:0017048 Rho GTPase binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIAPH1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
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:0007015 actin filament organization IEA --
GO:0007605 sensory perception of sound TAS,IEA --
GO:0008360 regulation of cell shape IMP 21834987
GO:0016043 cellular component organization 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DIAPH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DIAPH1 Gene



Protein tissue co-expression partners for DIAPH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DIAPH1 Gene:

DIAPH1

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. Expressed in platelets (PubMed:26912466).

Evidence on tissue expression from TISSUES for DIAPH1 Gene

  • Blood(4.7)
  • Nervous system(4.6)
  • Liver(4.4)
  • Heart(4.3)
  • Lung(4.3)
  • Skin(2.3)
  • Intestine(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIAPH1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DIAPH1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DIAPH1 33
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia DIAPH1 33 34
  • 92.65 (n)
oppossum
(Monodelphis domestica)
Mammalia DIAPH1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Diaph1 33
  • 87.93 (n)
mouse
(Mus musculus)
Mammalia Diap1 33 34
  • 86.19 (n)
Diaph1 16
cow
(Bos Taurus)
Mammalia DIAPH1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DIAPH1 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIAPH1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia diaph1 33
  • 67.99 (n)
Str.15019 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16463 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01057928.1 34
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dia 35 33 34
  • 51.33 (n)
worm
(Caenorhabditis elegans)
Secernentea cyk-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for DIAPH1 was found in the sources mined by GeneCards:
  • 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
rs730882242 Pathogenic 141,573,518(-) AGGTG(C/T)AGCTC reference, stop-gained
rs863225242 Pathogenic 141,529,181(-) CAGTT(-/T)GGCGT reference, frameshift-variant
rs863225243 Pathogenic 141,528,456(-) CCAGC(C/T)GAGGT reference, stop-gained
rs112580910 Likely benign 141,515,547(+) TTCAG(C/T)GTGCC utr-variant-3-prime
rs116342492 Likely benign 141,515,487(+) GCAAA(A/G)GTATC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
nsv1109731 CNV deletion 24896259
nsv5033 CNV insertion 18451855
nsv516495 CNV gain+loss 19592680
nsv950417 CNV duplication 24416366

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

Human Gene Mutation Database (HGMD)
DIAPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIAPH1

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

Disorders for DIAPH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
seizures, cortical blindness, microcephaly syndrome
  • progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
deafness, autosomal dominant 1
  • autosomal dominant nonsyndromic deafness 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, autosomal dominant 67
  • autosomal dominant nonsyndromic deafness 67
- 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. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. {ECO:0000269 PubMed:26912466, ECO:0000269 PubMed:27808407, ECO:0000269 PubMed:9360932}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, cortical blindness, and 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 ED … King MC (Science (New York, N.Y.) 1997) 2 3 4 60
  2. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. (PMID: 26912466) Stritt S … Mumford AD (Blood 2016) 3 4 60
  3. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. (PMID: 26463574) Al-Maawali A … Stoler JM (American journal of medical genetics. Part A 2016) 3 4 60
  4. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. (PMID: 24781755) Ercan-Sencicek AG … State MW (European journal of human genetics : EJHG 2015) 3 4 60
  5. cAMP-stimulated phosphorylation of diaphanous 1 regulates protein stability and interaction with binding partners in adrenocortical cells. (PMID: 23325789) Li D … Sewer MB (Molecular biology of the cell 2013) 3 4 60

Products for DIAPH1 Gene

Sources for DIAPH1 Gene

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