Human Gene DIAPH1 (ENST00000389054.8_10) from GENCODE V47lift37
  Description: diaphanous related formin 1, transcript variant 1 (from RefSeq NM_005219.5)
Gencode Transcript: ENST00000389054.8_10
Gencode Gene: ENSG00000131504.18_18
Transcript (Including UTRs)
   Position: hg19 chr5:140,894,588-140,998,567 Size: 103,980 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr5:140,896,418-140,998,481 Size: 102,064 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:140,894,588-140,998,567)mRNA (may differ from genome)Protein (1272 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DIAP1_HUMAN
DESCRIPTION: RecName: Full=Protein diaphanous homolog 1; AltName: Full=Diaphanous-related formin-1; Short=DRF1;
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.
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).
INTERACTION: Q9Q2G4:ORF (xeno); NbExp=2; IntAct=EBI-3959709, EBI-6248094;
SUBCELLULAR LOCATION: Cell membrane. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells.
TISSUE SPECIFICITY: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea.
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).
DISEASE: Defects in DIAPH1 are the cause of deafness autosomal dominant type 1 (DFNA1) [MIM:124900]. DFNA1 is a form of 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.
SIMILARITY: Belongs to the formin homology family. Diaphanous subfamily.
SIMILARITY: Contains 1 DAD (diaphanous autoregulatory) domain.
SIMILARITY: Contains 1 FH1 (formin homology 1) domain.
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.
SIMILARITY: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
SEQUENCE CAUTION: Sequence=BAB14533.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD92719.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene page; URL="http://webhost.ua.ac.be/hhh/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DIAPH1
Diseases sorted by gene-association score: seizures, cortical blindness, microcephaly syndrome* (1250), deafness, autosomal dominant 1* (927), dfna 1 nonsyndromic hearing loss and deafness* (100), autosomal dominant non-syndromic sensorineural deafness type dfna* (75), deafness, autosomal dominant 67 (12), deafness, autosomal recessive 36 (10), cortical blindness (8), autosomal dominant nonsyndromic deafness 6 (6), deafness, autosomal recessive 67 (6), microcephaly (2), nonsyndromic deafness (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.61 RPKM in Muscle - Skeletal
Total median expression: 936.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.9086-0.499 Picture PostScript Text
3' UTR -674.801830-0.369 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003104 - Actin-bd_FH2/DRF_autoreg
IPR016024 - ARM-type_fold
IPR014767 - Diaphanous_autoregulatory
IPR010465 - Drf_DAD
IPR010472 - Drf_FH3
IPR010473 - Drf_GTPase-bd
IPR015425 - FH2_actin-bd
IPR009408 - Formin_homology_1
IPR014768 - GTPase-bd/formin_homology_3

Pfam Domains:
PF02181 - Formin Homology 2 Domain
PF06346 - Formin Homology Region 1
PF06367 - Diaphanous FH3 Domain
PF06371 - Diaphanous GTPase-binding Domain

SCOP Domains:
48371 - ARM repeat
101447 - Formin homology 2 domain (FH2 domain)
103657 - BAR/IMD domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on O60610
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0017048 Rho GTPase binding
GO:0044325 ion channel binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007015 actin filament organization
GO:0007605 sensory perception of sound
GO:0008360 regulation of cell shape
GO:0016043 cellular component organization
GO:0030036 actin cytoskeleton organization
GO:0030041 actin filament polymerization
GO:0030335 positive regulation of cell migration
GO:0032886 regulation of microtubule-based process
GO:0035372 protein localization to microtubule
GO:0043312 neutrophil degranulation
GO:0051279 regulation of release of sequestered calcium ion into cytosol
GO:0051493 regulation of cytoskeleton organization
GO:0071420 cellular response to histamine
GO:2000145 regulation of cell motility

Cellular Component:
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030667 secretory granule membrane
GO:0032587 ruffle membrane
GO:0042995 cell projection
GO:0072686 mitotic spindle
GO:0101003 ficolin-1-rich granule membrane


-  Descriptions from all associated GenBank mRNAs
  AK094264 - Homo sapiens cDNA FLJ36945 fis, clone BRACE2005642, highly similar to DIAPHANOUS PROTEIN HOMOLOG 1.
AF051782 - Homo sapiens diaphanous 1 (HDIA1) mRNA, complete cds.
DQ067453 - Homo sapiens diaphanous-1 (DIAPH1) mRNA, complete cds.
AK057994 - Homo sapiens cDNA FLJ25265 fis, clone STM05317.
AB209482 - Homo sapiens mRNA for Diaphanous 1 variant protein.
BC007411 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:2967490), partial cds.
AK301195 - Homo sapiens cDNA FLJ55595 complete cds, highly similar to Protein diaphanous homolog 1.
BC117257 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone MGC:150866 IMAGE:40125808), complete cds.
BC143413 - Homo sapiens diaphanous homolog 1 (Drosophila), mRNA (cDNA clone MGC:176938 IMAGE:9051921), complete cds.
BC143414 - Homo sapiens cDNA clone IMAGE:9051922.
AY363395 - Homo sapiens diaphanous 1 mRNA, complete cds.
BT007318 - Homo sapiens diaphanous homolog 1 (Drosophila) mRNA, complete cds.
AB384958 - Synthetic construct DNA, clone: pF1KB4524, Homo sapiens DIAPH1 gene for protein diaphanous homolog 1, complete cds, without stop codon, in Flexi system.
AL050086 - Homo sapiens mRNA; cDNA DKFZp434M211 (from clone DKFZp434M211).
AY007129 - Homo sapiens clone CDABP0038 mRNA sequence.
JD245201 - Sequence 226225 from Patent EP1572962.
JD150403 - Sequence 131427 from Patent EP1572962.
JD464392 - Sequence 445416 from Patent EP1572962.
JD467806 - Sequence 448830 from Patent EP1572962.
JD444709 - Sequence 425733 from Patent EP1572962.
JD085958 - Sequence 66982 from Patent EP1572962.
JD191503 - Sequence 172527 from Patent EP1572962.
JD163056 - Sequence 144080 from Patent EP1572962.
JD081403 - Sequence 62427 from Patent EP1572962.
JD050554 - Sequence 31578 from Patent EP1572962.
JD437614 - Sequence 418638 from Patent EP1572962.
JD448041 - Sequence 429065 from Patent EP1572962.
JD079323 - Sequence 60347 from Patent EP1572962.
JD086492 - Sequence 67516 from Patent EP1572962.
JD121169 - Sequence 102193 from Patent EP1572962.
JD161759 - Sequence 142783 from Patent EP1572962.
JD100051 - Sequence 81075 from Patent EP1572962.
JD465410 - Sequence 446434 from Patent EP1572962.
JD293800 - Sequence 274824 from Patent EP1572962.
JD276989 - Sequence 258013 from Patent EP1572962.
JD051844 - Sequence 32868 from Patent EP1572962.
JD475062 - Sequence 456086 from Patent EP1572962.
JD277840 - Sequence 258864 from Patent EP1572962.
JD283002 - Sequence 264026 from Patent EP1572962.
JD353617 - Sequence 334641 from Patent EP1572962.
JD244489 - Sequence 225513 from Patent EP1572962.
JD234971 - Sequence 215995 from Patent EP1572962.
JD428568 - Sequence 409592 from Patent EP1572962.
JD197228 - Sequence 178252 from Patent EP1572962.
JD061543 - Sequence 42567 from Patent EP1572962.
JD162948 - Sequence 143972 from Patent EP1572962.
JD271909 - Sequence 252933 from Patent EP1572962.
JD423750 - Sequence 404774 from Patent EP1572962.
JD136640 - Sequence 117664 from Patent EP1572962.
JD055901 - Sequence 36925 from Patent EP1572962.
JD189688 - Sequence 170712 from Patent EP1572962.
JD399633 - Sequence 380657 from Patent EP1572962.
LC180357 - Homo sapiens DIAPH1 mRNA for diaphanous homolog 1, complete cds.
AK307822 - Homo sapiens cDNA, FLJ97770.
DQ067452 - Homo sapiens diaphanous-1 (DIAPH1) mRNA, partial cds.
AK023345 - Homo sapiens cDNA FLJ13283 fis, clone OVARC1001113, highly similar to Homo sapiens diaphanous 1 (HDIA1) mRNA.
AY360322 - Homo sapiens diaphanous 1 mRNA, partial cds.
LF343296 - JP 2014500723-A/150799: Polycomb-Associated Non-Coding RNAs.
LF211027 - JP 2014500723-A/18530: Polycomb-Associated Non-Coding RNAs.
LF343297 - JP 2014500723-A/150800: Polycomb-Associated Non-Coding RNAs.
LF343298 - JP 2014500723-A/150801: Polycomb-Associated Non-Coding RNAs.
LF343301 - JP 2014500723-A/150804: Polycomb-Associated Non-Coding RNAs.
AK127054 - Homo sapiens cDNA FLJ45111 fis, clone BRAWH3034134.
AK304291 - Homo sapiens cDNA FLJ61549 complete cds, highly similar to Protein diaphanous homolog 1.
MA578873 - JP 2018138019-A/150799: Polycomb-Associated Non-Coding RNAs.
MA578874 - JP 2018138019-A/150800: Polycomb-Associated Non-Coding RNAs.
MA578875 - JP 2018138019-A/150801: Polycomb-Associated Non-Coding RNAs.
MA578878 - JP 2018138019-A/150804: Polycomb-Associated Non-Coding RNAs.
MA446604 - JP 2018138019-A/18530: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ecmPathway - Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia
h_malPathway - Role of MAL in Rho-Mediated Activation of SRF
h_rhoPathway - Rho cell motility signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O60610 (Reactome details) participates in the following event(s):

R-HSA-5665989 DIAPH1 binds RHOA:GTP
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-5665982 RHOA:GTP:DIAPH1 binds EVL and sequesters profilin:G-actin from MKL1
R-HSA-6785648 MEMO1 binds RHOA:GTP:DIAPH1
R-HSA-5666070 RHOB:GTP recruits DIAPH1 or DIAPH3 to endosomes
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-6798695 Neutrophil degranulation
R-HSA-6785631 ERBB2 Regulates Cell Motility
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-1227986 Signaling by ERBB2
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NF18, B7ZKW2, DIAP1, DIAP1_HUMAN, E9PEZ2, ENST00000389054.1, ENST00000389054.2, ENST00000389054.3, ENST00000389054.4, ENST00000389054.5, ENST00000389054.6, ENST00000389054.7, NM_005219, O60610, Q17RN4, Q59FH8, Q9UC76, uc318tci.1, uc318tci.2
UCSC ID: ENST00000389054.8_10
RefSeq Accession: NM_005219.5
Protein: O60610 (aka DIAP1_HUMAN or DIA1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DIAPH1:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.