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DIAPH1

GENERAL INFORMATION

Gene name

 DIAPH1

Gene description

 Diaphanous-related formin 1

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA004916
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DIAPH1 (HGNC Symbol)

Synonyms

 DFNA1, hDIA1, LFHL1

Description

 Diaphanous-related formin 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 5

Cytoband

 q31.3

Chromosome location (bp)

 141515016 - 141619055

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000131504 (version 83.38)

Entrez gene

 1729

UniProt

 O60610 (UniProt - Evidence at protein level)

neXtProt

 NX_O60610

Antibodypedia

 DIAPH1 antibodies

PROTEIN BROWSER
DIAPH1-001
DIAPH1-004
DIAPH1-011
DIAPH1-012
DIAPH1-201
DIAPH1-202
DIAPH1-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DIAPH1-001
ENSP00000373706
ENST00000389054
O60610 [Direct mapping]
Protein diaphanous homolog 1
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005102 [receptor binding]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005522 [profilin binding]
GO:0005829 [cytosol]
GO:0007010 [cytoskeleton organization]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007605 [sensory perception of sound]
GO:0008360 [regulation of cell shape]
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]
GO:0032587 [ruffle membrane]
GO:0032886 [regulation of microtubule-based process]
GO:0035372 [protein localization to microtubule]
GO:0044325 [ion channel binding]
GO:0044822 [poly(A) RNA binding]
GO:0051279 [regulation of release of sequestered calcium ion into cytosol]
GO:0071420 [cellular response to histamine]
GO:0072686 [mitotic spindle]
Show all
 1272 aa
141.3 kDa 		No 0
DIAPH1-004
ENSP00000408159
ENST00000448451
H7C2W8 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0017048 [Rho GTPase binding]
GO:0030041 [actin filament polymerization]
Show all
 96 aa
11 kDa 		No 0
DIAPH1-011
ENSP00000430587
ENST00000524301
E5RJ79 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
Show all
 112 aa
12.9 kDa 		No 0
DIAPH1-012
ENSP00000428268
ENST00000518047
O60610 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005102 [receptor binding]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0007010 [cytoskeleton organization]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007605 [sensory perception of sound]
GO:0008360 [regulation of cell shape]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0032587 [ruffle membrane]
GO:0032886 [regulation of microtubule-based process]
GO:0035372 [protein localization to microtubule]
GO:0044325 [ion channel binding]
GO:0044822 [poly(A) RNA binding]
GO:0051279 [regulation of release of sequestered calcium ion into cytosol]
GO:0071420 [cellular response to histamine]
GO:0072686 [mitotic spindle]
Show all
 1263 aa
140.3 kDa 		No 0
DIAPH1-201
ENSP00000253811
ENST00000253811
H9KV28 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
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
ENSP00000373709
ENST00000389057
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
Show all
 1263 aa
140.3 kDa 		No 0
DIAPH1-203
ENSP00000381565
ENST00000398557
A0A0G2JH68 [Direct mapping]
Protein diaphanous homolog 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005488 [binding]
GO:0016043 [cellular component organization]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030041 [actin filament polymerization]
Show all
 1272 aa
141.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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