DIAPH1

GENE INFORMATION

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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)

140894583 - 140998622

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131504 (version 75.37)

Entrez gene

1729

UniProt

O60610 (UniProt - Evidence at protein level)

neXtProt

NX_O60610

Antibodypedia

DIAPH1 antibodies
 

PROTEIN VIEW

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 « 
 
DIAPH1-001
 
DIAPH1-002
 
DIAPH1-003
 
DIAPH1-004
 
DIAPH1-010
 
DIAPH1-011
 
DIAPH1-012
 
DIAPH1-201
 
DIAPH1-202
 
DIAPH1-203
 
DIAPH1-204
 
DIAPH1-205
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DIAPH1-001 ENSP00000373706
ENST00000389054
E9PEZ3
Show all »
Show » Show » 1269 141.1 No 0
DIAPH1-002 ENSP00000427880
ENST00000521457
E7EMV0
Show all »
Show » Show » 863 94.6 No 0
DIAPH1-003 ENSP00000429282
ENST00000520569
E7ERW8
Show all »
Show » Show » 1215 135.3 No 0
DIAPH1-004 ENSP00000408159
ENST00000448451
Show » 96 11 No 0
DIAPH1-010 ENSP00000428208
ENST00000523100
B4E2I7
Show all »
Show » Show » 201 22.5 No 0
DIAPH1-011 ENSP00000430587
ENST00000524301
E5RJ79
Show all »
Show » Show » 112 12.9 No 0
DIAPH1-012 ENSP00000428268
ENST00000518047
E9PHQ0
Show all »
Show » Show » 1260 140 No 0
DIAPH1-201 ENSP00000253811
ENST00000253811
H9KV28
Show all »
Show » Show » 1273 141.6 No 0
DIAPH1-202 ENSP00000373709
ENST00000389057
O60610
Show all »
Show » Show » 1263 140.3 No 0
DIAPH1-203 ENSP00000381565
ENST00000398557
O60610
Show all »
Show » Show » 1272 141.3 No 0
DIAPH1-204 ENSP00000381570
ENST00000398562
B9ZVX0
Show all »
Show » Show » 1248 138.9 No 0
DIAPH1-205 ENSP00000381572
ENST00000398566
E7ET75
Show all »
Show » Show » 1264 140.5 No 0