Dynamin 1

Alternative Names

  • DNM1
Back to search Result
OMIM Number

602377

NCBI Gene ID

1759

Uniprot ID

Q05193

Length

51,866 bases

No. of Exons

24

No. of isoforms

4

Protein Name

Dynamin-1

Molecular Mass

97408 Da

Amino Acid Count

864

Genomic Location

chr9:128,203,379-128,255,244

Gene Map Locus
9q34.11

Description

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004408.4:c.127G>ASaudi ArabiaNC_000009.12:g.128203597G>ALikely Pathogenic, PathogenicPathogenicDevelopmental and Epileptic Encephalopathy 31ANG_029726.1:g.5214G>A; NM_004408.4:c.127G>A; NP_004399.2:p.Gly43Ser1554767313520545
© CAGS 2025. All rights reserved.