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DIAPH1
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  • DIAPH1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
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.

DIAPH1
Synonyms DFNA1, hDIA1, LFHL1
Gene descriptioni

Full gene name according to HGNC.

Diaphanous related formin 1
Protein classi

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

Read more
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.

Read more
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 5
Cytoband q31.3
Chromosome location (bp) 141515016 - 141619055
Number of transcriptsi

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

9
Ensembl ENSG00000131504 (version 103.38)
Entrez gene 1729
HGNC HGNC:2876
UniProt O60610 (UniProt - Evidence at protein level)
neXtProt NX_O60610
Antibodypedia DIAPH1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 0      # Population variants: 653

Antigens:

Off
On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
DIAPH1-201
DIAPH1-202
DIAPH1-203
DIAPH1-204
DIAPH1-205
DIAPH1-206
DIAPH1-211
DIAPH1-215
DIAPH1-218


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 UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
DIAPH1-201
ENSP00000253811
ENST00000253811
H9KV28 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
Show all
1228 aa
136.9 kDa
No 0
DIAPH1-202
ENSP00000373706
ENST00000389054
O60610 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   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:0003723 [RNA binding]
GO:0003779 [actin binding]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005815 [microtubule organizing center]
GO:0005819 [spindle]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007010 [cytoskeleton organization]
GO:0007015 [actin filament organization]
GO:0007605 [sensory perception of sound]
GO:0008360 [regulation of cell shape]
GO:0016020 [membrane]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0030667 [secretory granule membrane]
GO:0032587 [ruffle membrane]
GO:0032886 [regulation of microtubule-based process]
GO:0035372 [protein localization to microtubule]
GO:0042995 [cell projection]
GO:0043312 [neutrophil degranulation]
GO:0044325 [ion channel binding]
GO:0051279 [regulation of release of sequestered calcium ion into cytosol]
GO:0051493 [regulation of cytoskeleton organization]
GO:0071420 [cellular response to histamine]
GO:0072686 [mitotic spindle]
GO:0101003 [ficolin-1-rich granule membrane]
GO:2000145 [regulation of cell motility]
Show all
1272 aa
141.3 kDa
No 0
DIAPH1-203
ENSP00000373709
ENST00000389057
A0A140T8Z0 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
Show all
1263 aa
140.3 kDa
No 0
DIAPH1-204
ENSP00000381565
ENST00000398557
A0A0G2JH68 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0030335 [positive regulation of cell migration]
Show all
1272 aa
141.4 kDa
No 0
DIAPH1-205
ENSP00000408159
ENST00000448451
H7C2W8 [Direct mapping]
Protein diaphanous homolog 1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0017048 [Rho GTPase binding]
GO:0030041 [actin filament polymerization]
Show all
74 aa
7.9 kDa
No 0
DIAPH1-206
ENSP00000493546
ENST00000468119
H7C2W8 [Direct mapping]
Protein diaphanous homolog 1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0017048 [Rho GTPase binding]
GO:0030041 [actin filament polymerization]
Show all
74 aa
7.9 kDa
No 0
DIAPH1-211
ENSP00000428268
ENST00000518047
O60610 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   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:0003723 [RNA binding]
GO:0003779 [actin binding]
GO:0005102 [signaling receptor binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005815 [microtubule organizing center]
GO:0005819 [spindle]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0007010 [cytoskeleton organization]
GO:0007015 [actin filament organization]
GO:0007605 [sensory perception of sound]
GO:0008360 [regulation of cell shape]
GO:0016020 [membrane]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
GO:0030667 [secretory granule membrane]
GO:0032587 [ruffle membrane]
GO:0032886 [regulation of microtubule-based process]
GO:0035372 [protein localization to microtubule]
GO:0042995 [cell projection]
GO:0043312 [neutrophil degranulation]
GO:0044325 [ion channel binding]
GO:0051279 [regulation of release of sequestered calcium ion into cytosol]
GO:0051493 [regulation of cytoskeleton organization]
GO:0071420 [cellular response to histamine]
GO:0072686 [mitotic spindle]
GO:0101003 [ficolin-1-rich granule membrane]
GO:2000145 [regulation of cell motility]
Show all
1263 aa
140.3 kDa
No 0
DIAPH1-215
ENSP00000495191
ENST00000643312
H7C2W8 [Direct mapping]
Protein diaphanous homolog 1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0017048 [Rho GTPase binding]
GO:0030041 [actin filament polymerization]
Show all
74 aa
7.9 kDa
No 0
DIAPH1-218
ENSP00000494675
ENST00000647433
A0A2R8Y5N1 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Mutated cancer genes
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0007015 [actin filament organization]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
Show all
1250 aa
139.4 kDa
No 0

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.