DIAPH1 Gene
protein-coding GIFtS: 66
GCID: GC05M140875
|
|
diaphanous homolog 1 (Drosophila)(Previous names: diaphanous (Drosophila, homolog) 1 )
(Previous symbol: DFNA1)
| |
Aliases
for DIAPH1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Diaphanous Homolog 1 (Drosophila)1 2 | | Diaphanous (Drosophila, Homolog) 11 | | DFNA11 2 5 | | DIA12 | | LFHL11 2 5 | | Diaphanous-Related Formin 12 | | HDIA11 | | Protein Diaphanous Homolog 12 | | Diaphanous-Related Formin-12 3 | | DIAP13 | | DRF12 3 | | |
Export aliases for DIAPH1 gene to outside databasesPrevious GC identifers: GC05M140711 GC05M141477 GC05M140877 GC05M140923 GC05M136039 |
Summaries
for DIAPH1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DIAPH1:
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 tointeract with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have arole in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcriptvariants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actinstructures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actinfilament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptionalactivation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and theregulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promotecell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play arole in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays animportant role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization ofAPC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows thelocalization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays arole in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape
Gene Wiki entry for DIAPH1
|
Genomic Views
for DIAPH1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_029289.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DIAPH1 gene promoter:
Sp1 AP-2alpha isoform 3 AP-1 AP-2alpha isoform 2 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors
Search SABiosciences Chromatin IP Primers for DIAPH1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIAPH1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q31 Ensembl cytogenetic band: 5q31.3 HGNC cytogenetic band: 5q31DIAPH1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M140875: view genomic region
(about GC identifiers)
Start:
|
140,894,583 bp from pter |
End:
|
140,998,622 bp from pter |
Size:
|
104,040 bases |
Orientation:
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minus strand |
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Proteins
for DIAPH1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610 (See
protein sequence)Recommended Name: Protein diaphanous homolog 1 Size: 1272 amino acids; 141347 Da
Subunit: 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)
Subcellular location: Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane ruffles,especially at the tip of ruffles, of motile cells
Sequence caution: Sequence=BAB14533.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD92719.1;Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NF18 B7ZKW2 E9PEZ2 Q17RN4 Q59FH8 Q9UC76Alternative splicing: 3 isoforms: O60610-1 O60610-2 O60610-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DIAPH1: NX_O60610
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60610
DIAPH1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001073280.1 NP_005210.3
ENSEMBL proteins: ENSP00000373706 ENSP00000429282 ENSP00000408159 ENSP00000428268 ENSP00000427880 ENSP00000428208 ENSP00000430587 ENSP00000381570 ENSP00000373709 ENSP00000381572 ENSP00000381565 ENSP00000253811
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
DIAPH1 for ontologies About GeneDecksing
DIAPH1 Antibody Products:
Assay Products for DIAPH1: |
Protein
Domains /
Families
for DIAPH1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DIAPH1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry O60610ProtoNet protein and cluster: O60610 4 Blocks protein families: IPB003104 Actin-binding FH2 IPB009408 Formin Homology 1 IPB010465 DRF autoregulatory IPB010472 Diaphanous FH3
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610Domain: The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. Thisautoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domainto then nucleate and elongate nonbranched actin filaments (By similarity)Similarity: Belongs to the formin homology family. Diaphanous subfamilySimilarity: Contains 1 DAD (diaphanous autoregulatory) domainSimilarity: Contains 1 FH1 (formin homology 1) domainSimilarity: Contains 1 FH2 (formin homology 2) domainSimilarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain |
Function
for DIAPH1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610Function: Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actinstructures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actinfilament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptionalactivation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and theregulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promotecell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play arole in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays animportant role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization ofAPC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows thelocalization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Plays arole in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape Genatlas biochemistry entry for DIAPH1:Drosophila diaphanous homolog 1,widely expressed in cochlea and many tissues,formin family,acting as a RHO effector andinvolved in cytokinesis,mutated in DFNA1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH1 (NM_005219) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIAPH1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH1 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
DIAPH1 for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for DIAPH1:
Animal Models:
Mouse knock-outs for DIAPH1: Diap1tm1Asal Diap1tm1.1Sna
9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Diap1):
DIAPH1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DIAPH1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | G-protein signaling_RhoA regulation pathway | | | 2 | Immune response _CCR3 signaling in eosinophils | | | 3 | Cytoskeletal Signaling | | | 4 | AGE/RAGE pathway | | | 5 | G13 Signaling Pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for DIAPH1
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DIAPH1
1 
Cell Signaling Technology (CST) Pathway for DIAPH1
3  GeneGo (Thomson Reuters) Pathways for DIAPH1
4  BioSystems Pathways for DIAPH1
3 
Kegg Pathways (Kegg details for DIAPH1):
DIAPH1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DIAPH1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/887 Interacting proteins for DIAPH1 (O606101, 2, 3 ENSP000003815654) via UniProtKB, MINT, STRING, and/or I2D (see all 887)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007010 | cytoskeleton organization |
IMP | -- | | GO:0007605 | sensory perception of sound |
IEA | -- | | GO:0008360 | regulation of cell shape |
IMP | -- | | GO:0030036 | actin cytoskeleton organization |
-- | -- | | GO:0030041 | actin filament polymerization |
IEA | -- |
DIAPH1 for ontologies About GeneDecksing
|
Drugs & Compounds
for DIAPH1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DIAPH1
1 HMDB Compound for DIAPH1 About this table
Search CenterWatch for drugs/clinical trials and news about DIAPH1 / DIAP1
|
Transcripts
for DIAPH1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DIAPH1 gene (2 alternative transcripts): NM_001079812.2 NM_005219.4 Unigene Cluster for DIAPH1: Diaphanous homolog 1 (Drosophila) Hs.529451 [show with all ESTs]Unigene Representative Sequence: NM_00521918 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000476339 ENST00000389054(uc011dbd.2 uc003llb.4 uc003llc.4)
ENST00000520569 ENST00000448451 ENST00000518047(uc010jgc.1) ENST00000468119
ENST00000521457 ENST00000491754 ENST00000494967 ENST00000518484 ENST00000523100
ENST00000472516 ENST00000524301 ENST00000398562 ENST00000389057(uc021yeq.1)
ENST00000398566 ENST00000398557(uc021yep.1) ENST00000253811
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): DIAPH1 (NM_005219) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DIAPH1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1 |
Additional cDNA sequence: AB209482.1 AF051782.1 AK023345.1 AK057994.1 AK094264.1 AK127054.1 AK301195.1 AK304291.1 AK307822.1 AL050086.1 AL832054.1 AY007129.1 AY360322.1 AY363395.1 BC007411.2 BC117257.1 BC131603.1 BC143413.1 BC143414.1 BT007318.1 DQ067452.1 DQ067453.1 17 DOTS entries: DT.442889 DT.99983809 DT.75153851 DT.100794951 DT.75122725 DT.91662257 DT.95356197 DT.100794947 DT.120855461 DT.100794946 DT.120855413 DT.95071032 DT.95283621 DT.97800772 DT.99929374 DT.91832871 DT.92031152 24/345 AceView cDNA sequences (see all 345): BQ012168 AI219095 BU616555 AI184806 AI568056 AA432289 AU141476 BP346123 AI671537 AI905016 AY007129 BU753522 AK023345 BG164436 AU121440 CK902912 AI633823 CA421649 AW087951 BX421598 BE892429 CB115659 BM468074 BC007411
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for DIAPH1 (see all 8) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | |
| ExUns: | 22 | ^ | 23 | ^ | 24a | · | 24b | · | 24c |
|---|
|
| SP1: | | | - | | | | | | | | |
| SP2: | | | | | | | | | | | |
| SP3: | | | | | | | | | | | |
| SP4: | | | | | | | | | | | |
| SP5: | | | | | | | | | | |
ECgene alternative splicing isoforms for DIAPH1
|
Expression
for DIAPH1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DIAPH1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGGCAACTA
About this image
See DIAPH1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DIAPH1
SOURCE GeneReport for Unigene cluster: Hs.529451
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610Tissue specificity: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea
SABiosciences Expression via Pathway-Focused PCR Arrays including DIAPH1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIAPH1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DIAPH1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIAPH1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH1 |
Orthologs
for DIAPH1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for DIAPH1 gene from 8/25 species (see all 25) About this table
ENSEMBL Gene Tree for DIAPH1 (if available)
TreeFam Gene Tree for DIAPH1 (if available) |
Paralogs
for DIAPH1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DIAPH1 gene
- DAAM12 FMNL32 FHDC12 FMNL12 FMNL22 DAAM22 INF22 GRID2IP2
- FMN12 DIAPH22 DIAPH32 FMN22
4 SIMAP similar genes for DIAPH1 using alignment to 14 protein entries: DIAP1_HUMAN (see all proteins):DIAPH2 DIAPH3 DAAM2 FMN1
DIAPH1 for paralogs About GeneDecksing
|
Genomic Variants
for DIAPH1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DIAPH1 (140894583 - 140998622 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for DIAPH1
2 CNVs: 51581 69211
Human Gene Mutation Database (HGMD): DIAPH1
Locus Specific Mutation Databases (LSDB): DIAPH1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIAPH1 |
|
Disorders
/ Diseases
for DIAPH1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DIAPH1 for disorders About GeneDecksing
OMIM gene information: 602121
OMIM disorders: 124900
UniProtKB/Swiss-Prot: DIAP1_HUMAN, O60610
Defects in DIAPH1 are the cause of deafness autosomal dominant type 1 (DFNA1) [MIM:124900]. DFNA1 is a form ofsensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, thenerve pathways to the brain, or the area of the brain that receives sound information
8  diseases for DIAPH1: About MalaCardshearing loss deafness, autosomal dominant 1 nonsyndromic deafness wolfram syndrome
shigellosis seizures melanoma neuronitis
3 Novoseek disease relationships for DIAPH1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| melanoma |
5.3 |
1 |
17182868 (1) |
| tumors |
0 |
1 |
14561774 (1) |
| cancer |
0 |
1 |
20303269 (1) |
Human Genome Epidemiology (HuGE) Navigator: DIAPH1 (1 document)
Export disorders for DIAPH1 gene to outside databases
|
Publications
for DIAPH1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DIAPH1 gene, integrated from 9 sources (see all 93):
(articles sorted by number of sources associating them with DIAPH1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (PubMed id 9360932)1, 2, 3 Lynch E.D.... King M.-C. (1997)
- Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
- HAN11 binds mDia1 and controls GLI1 transcriptional activity. (PubMed id 16887337)1, 2 Morita K....Watt F.M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins. (PubMed id 7737110)1, 2 Reinhard M.... Walter U. (1995)
- The gene for an inherited form of deafness maps to chromosome 5q31. (PubMed id 1350680)1, 3 Leon P.E....King M.C. (1992)
- Mitf regulation of Dia1 controls melanoma proliferation and invasiveness. (PubMed id 17182868)1, 9 Carreira S....Goding C.R. (2006)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- mDia1 and WAVE2 proteins interact directly with IRSp53 in filopodia and are involved in filopodium formation. (PubMed id 22179776)1 Goh W.I....Ahmed S. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
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External Searches for DIAPH1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DIAPH1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing DIAPH1 gene
(According to HUGE)
About This Section
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Specialized Databases showing DIAPH1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for DIAPH1 | Pharmacogenomics, SNPs, Pathways | | Hereditary hearing loss homepage | http://webhost.ua.ac.be/hhh/ |
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About This Section
| Patent Information for DIAPH1 gene:
Search GeneIP for patents involving DIAPH1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DIAPH1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for DIAPH1 | | OriGene shRNA RFP for DIAPH1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DIAPH1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DIAPH1 | | | OriGene Protein Over-expression Lysate for DIAPH1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DIAPH1 | | OriGene 3'-UTR Clone for DIAPH1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DIAPH1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DIAPH1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DIAPH1 | | OriGene Custom Protein Services for DIAPH1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DIAPH1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIAPH1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIAPH1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DIAPH1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DIAPH1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DIAPH1 |
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| | Antibodies & Assays for DIAPH1
(diaphanous 1) |
| | | | Search Tocris compounds for DIAPH1 |
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 | | | DIAPH1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIAPH1 |
|  |  |  | | | | ThermoFisher Antibody for DIAPH1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIAPH1 |
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