DIAPH1
Sign in to saveAlso known as DFNA1, DIA1, DRF1, LFHL1, hDIA1, SCBMS, diaphanous related formin 1, mDia1
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.
Gene data
DIAPH1- Name
- diaphanous related formin 1
- Type
- protein-coding
- Position
- 141,515,016–141,619,194 (−)
- Aliases
- DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1
- Ensembl
- ENSG00000131504
- RefSeq RNA
- NM_001079812.3, NM_001314007.2, NM_005219.5, XM_047416884.1, XM_047416885.1
- RefSeq protein
- NP_001073280.1, NP_001300936.1, NP_005210.3, XP_047272840.1, XP_047272841.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
diaphanous related formin 1
- Symbol
- DIAPH1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:141,515,016-141,619,194
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
7 sectionsContents
- Function
- Interactions
- Clinical significance
- See also
- References
- Further reading
- External links
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.
== Function ==
Excerpted from Wikipedia’s “DIAPH1” article, available under the CC BY-SA 4.0 licence.