DNAL4
entrez
10126
canonical
uniprot
O96015
canonical
ensembl
ENSG00000100246
resolver
ensp
ENSP00000216068
resolver
ensp
ENSP00000576838
resolver
ensp
ENSP00000586160
resolver
ensp
ENSP00000586161
resolver
ensp
ENSP00000634410
resolver
ensp
ENSP00000634411
resolver
ensp
ENSP00000634412
resolver
ensp
ENSP00000634413
resolver
enst
ENST00000216068
resolver
enst
ENST00000906779
resolver
enst
ENST00000916101
resolver
enst
ENST00000916102
resolver
enst
ENST00000964351
resolver
enst
ENST00000964352
resolver
enst
ENST00000964353
resolver
enst
ENST00000964354
resolver
genesymbol
DNAL4
resolver
hgnc
HGNC:2955
resolver
uniprot
Q6FGB2
resolver
uniprot
Q6FGD0
resolver
uniprot_entry
DNAL4_HUMAN
resolver
uniprot_sec
Q6FGB2
resolver
uniprot_sec
Q6FGD0
resolver
amino_acid_sequence
MGETEGKKDEADYKRLQTFPLVRHSDMPEEMRVETMELCVTACEKFSNNNESAAKMIKETMDKKFGSSWHVVIGEGFGFEITHEVKNLLYLYFGGTLAVCVWKCS
uniprot
proteins
disease_involvement
DISEASE: Mirror movements 3 (MRMV3) [MIM:616059]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. {ECO:0000269|PubMed:25098561, ECO:0000269|PubMed:38314870}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
12009
uniprot
proteins
protein_family
Dynein light chain family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25098561
uniprot
proteins
pubmed
38314870
uniprot
proteins
sequence_length
105
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
uniprot
proteins