| Type | Description |
|---|---|
| Definition | DnaJ heat shock protein family (Hsp40) member C21 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 13:18:00 | Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. | 30198570 |
| 2019-11-16 12:12:00 | We suggest that DNAJC21-related diseases constitute a distinct Inherited bone marrow failure syndromes (IBMFS) , with features overlapping Shwachman-Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to DNAJC21 mutations | 29700810 |
| 2018-01-20 11:18:00 | Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. | 28062395 |
| 2017-05-20 14:33:00 | findings demonstrate that mutations in DNAJC21 cause a cancer-prone bone marrow failure syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit | 27346687 |
| 2010-01-21 00:00:00 | molecular cloning | 15067379 |
| Type | IDs |
|---|---|
| Synonymous | BMFS3, DNAJA5, GS3, JJJ1 |
| Gene |
UniProtKB-ID:
DJC21_HUMAN
UniprotKB:
Q5F1R6
UniParc:
UPI000053E489,
UPI0001AE7367,
UPI000020C957
EMBL:
BC050472,
BC065745,
AY258422,
AY177688,
BC107577,
AK127749
Ensembl:
ENSG00000168724
KO:
hsa:134218
|
| Nucleutide sequences |
EMBL-CDS:
AAH50472.1,
AAI07578.1,
AAP81807.1,
AAO46910.1,
AAH65745.1,
BAC87112.1
Ensembl_TRS:
ENST00000642851,
ENST00000648817,
ENST00000382021
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371451,
ENSP00000497410,
ENSP00000496545
RefSeq:
NP_919259.3,
XP_011512268.2,
XP_011512267.2,
NP_001335349.1,
XP_005248307.2,
NP_001012339.2
|
| Others |
UniRef100:
UniRef100_Q5F1R6
UniRef90:
UniRef90_Q5F1R6
UniRef50:
UniRef50_Q5F1R6
UniGene:
Hs.131887
CCDS:
CCDS87294.1,
CCDS34144.1,
CCDS3907.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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