Human Gene DIAPH1 (uc003llc.4) Description and Page Index
  Description: Homo sapiens diaphanous-related formin 1 (DIAPH1), transcript variant 2, mRNA.
RefSeq Summary (NM_001079812): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:140,894,588-140,998,622 Size: 104,035 Total Exon Count: 27 Strand: -
Coding Region
   Position: hg19 chr5:140,896,418-140,998,481 Size: 102,064 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:140,894,588-140,998,622)mRNA (may differ from genome)Protein (1263 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PEZ2_HUMAN
DESCRIPTION: SubName: Full=Protein diaphanous homolog 1;
SIMILARITY: Contains 1 FH2 (formin homology 2) domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DIAPH1
CDC HuGE Published Literature: DIAPH1

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.60141-0.479 Picture PostScript Text
3' UTR -685.161830-0.374 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
PF06345 - DRF Autoregulatory Domain
PF06346 - Formin Homology Region 1
PF06367 - Diaphanous FH3 Domain
PF06371 - Diaphanous GTPase-binding Domain

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)

ModBase Predicted Comparative 3D Structure on E9PEZ2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
      
      
      
      
      

-  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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04810 - Regulation of actin cytoskeleton
hsa05131 - Shigellosis

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

-  Other Names for This Gene
  Alternate Gene Symbols: E9PEZ2, E9PEZ2_HUMAN, NM_001079812, NP_001073280
UCSC ID: uc003llc.4
RefSeq Accession: NM_001079812
Protein: E9PEZ2 CCDS: CCDS43373.1, CCDS43374.1

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001079812.2
exon count: 27CDS single in 3' UTR: no RNA size: 5777
ORF size: 3792CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6050.50frame shift in genome: no % Coverage: 99.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 2
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.