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ciliary dynein heavy chain 5 (axonemal beta dynein heavy chain 5, HL1, DNAH5, DNAHC5, KIAA1603)
Structure:
- belongs to the dynein heavy chain family
Pathology:
- defects in DNAH5 result in primary ciliary dyskinesia 3
General
dynein heavy chain
Properties
SIZE: MW = 529 kD
entity length = 4624 aa
MOTIF: Stem {1-1941}
MOTIF: coiled coil {284-305}
coiled coil {740-825}
coiled coil {1435-1465}
AAA 1 {1942-2164}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 1980-1987
AAA 2 {2224-2443}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 2262-2269
AAA 3 {2550-2803}
AAA 4 {2916-3170}
Stalk {3185-3482}
MOTIF: coiled coil {3195-3302}
coiled coil {3426-3491}
AAA 5 {3567-3797}
coiled coil {3732-3817}
AAA 6 {4012-4226}
coiled coil {4392-4420}
Database Correlations
OMIM correlations
MORBIDMAP 603335
UniProt Q8TE73
References
- UniProt :accession Q8TE73
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAH5