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].

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

Wikidata facts

Instance of

gene

Image

Protein DIAPH1 PDB 1v9d.png

via Wikidata · CC0