DNAJC21
entrez
134218
canonical
uniprot
Q5F1R6
canonical
ensembl
ENSG00000168724
resolver
ensp
ENSP00000371451
resolver
ensp
ENSP00000493883
resolver
ensp
ENSP00000496545
resolver
ensp
ENSP00000497410
resolver
ensp
ENSP00000651237
resolver
ensp
ENSP00000704625
resolver
enst
ENST00000642285
resolver
genesymbol
DNAJC21
resolver
genesymbol_syn
DNAJA5
resolver
hgnc
HGNC:27030
resolver
uniprot
A0A2R8Y4Q0
resolver
uniprot
Q3B7J9
resolver
uniprot
Q6P086
resolver
uniprot
Q6ZS43
resolver
uniprot
Q86VC6
resolver
uniprot_entry
A0A2R8Y4Q0_HUMAN
resolver
uniprot_entry
DJC21_HUMAN
resolver
uniprot_sec
Q3B7J9
resolver
uniprot_sec
Q6P086
resolver
uniprot_sec
Q6ZS43
resolver
uniprot_sec
Q86VC6
resolver
amino_acid_sequence
MKCHYEALGVRRDASEEELKKAYRKLALKWHPDKNLDNAAEAAEQFKLIQAAYDVLSDPQERAWYDNHREALLKGGFDGEYQDDSLDLLRYFTVTCYSGYGDDEKGFYTVYRNVFEMIAKEELESVLEEEVDDFPTFGDSQSDYDTVVHPFYAYWQSFCTQKNFAWKEEYDTRQASNRWEKRAMEKENKKIRDKARKEKNELVRQLVAFIRKRDKRVQAHRKLVEEQNAEKARKAEEMRRQQKLKQAKLVEQYREQSWMTMANLEKELQEMEARYEKEFGDGSDENEMEEHELKDEEDGKDSDEAEDAELYDDLYCPACDKSFKTEKAMKNHEKSKKHREMVALLKQQLEEEEENFSRPQIDENPLDDNSEEEMEDAPKQKLSKKQKKKKQKPAQNYDDNFNVNGPGEGVKVDPEDTNLNQDSAKELEDSPQENVSVTEIIKPCDDPKSEAKSVPKPKGKKTKDMKKPVRVPAEPQTMSVLISCTTCHSEFPSRNKLFDHLKATGHARAPSSSSLNSATSSQSKKEKRKNR
uniprot
proteins
disease_involvement
DISEASE: Bone marrow failure syndrome 3 (BMFS3) [MIM:617052]: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. {ECO:0000269|PubMed:27346687}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA. {ECO:0000269|PubMed:27346687}.
uniprot
proteins
mass_dalton
62028
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15067379
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27346687
uniprot
proteins
sequence_length
531
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27346687}. Nucleus {ECO:0000269|PubMed:27346687}. Nucleus, nucleolus {ECO:0000269|PubMed:27346687}. Note=Within the nucleus, localizes primarily to the nucleolus. {ECO:0000269|PubMed:27346687}.
uniprot
proteins