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This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21) is a Protein Coding gene. Diseases associated with DNAJC21 include Bone Marrow Failure Syndrome 3 and Pancytopenia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is DNAJC18.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 17500595 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005730 | nucleolus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005840 | ribosome | NAS | 16952052 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | NAS | 16952052 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNAJC21 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DNAJC21 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNAJC21 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Dnajc21 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dnajc21 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DNAJC21 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAJC21 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNAJC21 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DNAJC21 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnajc21 30 |
|
||
Str.6320 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21744 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dnajc21 30 31 |
|
OneToOne | |
wufa66c02 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009943 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG2790 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | dnj-17 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | JJJ1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D19602g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL194C 30 |
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636932 | Uncertain Significance: not provided | 34,949,597(+) | G/T | NONSENSE,INTRON_VARIANT | |
714249 | Benign: not provided | 34,937,544(+) | G/A | SYNONYMOUS_VARIANT | |
717195 | Likely Benign: not provided | 34,929,870(+) | G/A | SYNONYMOUS_VARIANT | |
719870 | Likely Benign: not provided | 34,953,922(+) | C/A | INTRON_VARIANT | |
721326 | Benign: not provided | 34,938,935(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5629n100 | CNV | gain | 25217958 |
esv28154 | CNV | loss | 19812545 |
esv3604679 | CNV | gain | 21293372 |
esv3604691 | CNV | gain | 21293372 |
nsv1028968 | CNV | gain | 25217958 |
nsv4789 | CNV | deletion | 18451855 |
nsv597809 | CNV | gain | 21841781 |
nsv597810 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bone marrow failure syndrome 3 |
|
|
pancytopenia |
|
|
inherited bone marrow failure syndromes |
|
|
pectus excavatum |
|
|
tongue disease |
|
|