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DIAPH3
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  • DIAPH3
PROTEIN SUMMARY SECTION OVERVIEW GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

DIAPH3
Synonyms AN, AUNA1, DRF3, FLJ34705, NSDAN
Gene descriptioni

Full gene name according to HGNC.

Diaphanous related formin 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 13
Cytoband q21.2
Chromosome location (bp) 59665583 - 60163928
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

7
Ensembl ENSG00000139734 (version 109)
Entrez gene 81624
HGNC HGNC:15480
UniProt Q9NSV4 (UniProt - Evidence at protein level)
neXtProt NX_Q9NSV4
GeneCards DIAPH3
Antibodypedia DIAPH3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.... show less
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DIAPH3-201
ENSP00000267215
ENST00000267215
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
1112 aa
127.9 kDa
No 0
DIAPH3-202
ENSP00000367141
ENST00000377908
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
1182 aa
135.6 kDa
No 0
DIAPH3-203
ENSP00000383173
ENST00000400319
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
1123 aa
129 kDa
No 0
DIAPH3-204
ENSP00000383174
ENST00000400320
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
1147 aa
131.5 kDa
No 0
DIAPH3-205
ENSP00000383178
ENST00000400324
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
1193 aa
136.9 kDa
No 0
DIAPH3-206
ENSP00000478137
ENST00000465066
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
849 aa
98.1 kDa
No 0
DIAPH3-208
ENSP00000479091
ENST00000498416
Q9NSV4
[Direct mapping] Protein diaphanous homolog 3
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0007010 [cytoskeleton organization]
GO:0016043 [cellular component organization]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0031267 [small GTPase binding]
GO:0045296 [cadherin binding]
Show all
691 aa
79.4 kDa
No 0

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