Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1729 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Diaphanous related formin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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DIAPH1 |
SynonymsGene synonyms aliases
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DFNA1, DIA1, DRF1, LFHL1, SCBMS, hDIA1, mDia1 |
ChromosomeChromosome number
|
5 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
5q31.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 diaphano |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs182139018 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
rs189809247 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs193036129 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
rs200606811 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs367786290 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
rs369494682 |
G>A,T |
Likely-benign, likely-pathogenic, uncertain-significance |
Coding sequence variant, synonymous variant, stop gained |
rs730882242 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
rs863225242 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs863225243 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs876657776 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1057524293 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1064794044 |
GC>A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1064797096 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1235751512 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1476157529 |
C>A,T |
Pathogenic |
Splice donor variant |
rs1554201397 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1596335566 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1596339533 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1596421912 |
->A |
Likely-pathogenic |
Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O60610 |
Protein name |
Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1) |
Protein function |
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerizatio |
PDB |
8FG1
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06371 |
Drf_GBD |
84 → 268 |
Diaphanous GTPase-binding Domain |
Family |
PF06367 |
Drf_FH3 |
274 → 464 |
Diaphanous FH3 Domain |
Family |
PF06346 |
Drf_FH1 |
614 → 691 |
|
Repeat |
PF06346 |
Drf_FH1 |
662 → 764 |
|
Repeat |
PF02181 |
FH2 |
769 → 1146 |
Formin Homology 2 Domain |
Family |
PF06345 |
Drf_DAD |
1197 → 1211 |
DRF Autoregulatory Domain |
Motif |
|
Sequence |
|
Sequence length |
1272 |
Interactions |
View interactions |