DNAJB13
entrez
374407
canonical
uniprot
P59910
canonical
ensembl
ENSG00000187726
resolver
ensp
ENSP00000344431
resolver
ensp
ENSP00000568030
resolver
genesymbol
DNAJB13
resolver
genesymbol_syn
TSARG3
resolver
genesymbol_syn
TSARG6
resolver
hgnc
HGNC:30718
resolver
uniprot
B3LEP4
resolver
uniprot
Q8IZW5
resolver
uniprot_entry
DJB13_HUMAN
resolver
uniprot_sec
B3LEP4
resolver
uniprot_sec
Q8IZW5
resolver
amino_acid_sequence
MGQDYYSVLGITRNSEDAQIKQAYRRLALKHHPLKSNEPSSAEIFRQIAEAYDVLSDPMKRGIYDKFGEEGLKGGIPLEFGSQTPWTTGYVFHGKPEKVFHEFFGGNNPFSEFFDAEGSEVDLNFGGLQGRGVKKQDPQVERDLYLSLEDLFFGCTKKIKISRRVLNEDGYSSTIKDKILTIDVKPGWRQGTRITFEKEGDQGPNIIPADIIFIVKEKLHPRFRRENDNLFFVNPIPLGKALTCCTVEVRTLDDRLLNIPINDIIHPKYFKKVPGEGMPLPEDPTKKGDLFIFFDIQFPTRLTPQKKQMLRQALLT
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. {ECO:0000269|PubMed:27486783}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. {ECO:0000269|PubMed:27486783}.
uniprot
proteins
mass_dalton
36118
uniprot
proteins
pubmed
12673577
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
27486783
uniprot
proteins
sequence_length
316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:27486783}. Note=Localizes both to epithelial motile cilium and the sperm flagellum (PubMed:27486783). In spermatids, rapidly enriched in the coupling apparatus with the elongation of the spermatid. Tightly attached to the implantation fossa during the maturation of the spermatid. In mature spermatzoa evenly distributed along the flagellum (By similarity). {ECO:0000250|UniProtKB:Q80Y75, ECO:0000269|PubMed:27486783}.
uniprot
proteins