DNAJC21
DnaJ homolog subfamily C member 21
Also known as: DJC21_HUMAN, DNAJA5, GS3, JJJ1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5F1R6
- Gene
- DNAJC21
- Ensembl
- ENSG00000168724
- Chromosome
- 5
- Canonical length
- 531 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoli,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
531 residues, UniProt reviewed canonical sequence.
>Q5F1R6|DNAJC21
1 MKCHYEALGV RRDASEEELK KAYRKLALKW HPDKNLDNAA EAAEQFKLIQ AAYDVLSDPQ
61 ERAWYDNHRE ALLKGGFDGE YQDDSLDLLR YFTVTCYSGY GDDEKGFYTV YRNVFEMIAK
121 EELESVLEEE VDDFPTFGDS QSDYDTVVHP FYAYWQSFCT QKNFAWKEEY DTRQASNRWE
181 KRAMEKENKK IRDKARKEKN ELVRQLVAFI RKRDKRVQAH RKLVEEQNAE KARKAEEMRR
241 QQKLKQAKLV EQYREQSWMT MANLEKELQE MEARYEKEFG DGSDENEMEE HELKDEEDGK
301 DSDEAEDAEL YDDLYCPACD KSFKTEKAMK NHEKSKKHRE MVALLKQQLE EEEENFSRPQ
361 IDENPLDDNS EEEMEDAPKQ KLSKKQKKKK QKPAQNYDDN FNVNGPGEGV KVDPEDTNLN
421 QDSAKELEDS PQENVSVTEI IKPCDDPKSE AKSVPKPKGK KTKDMKKPVR VPAEPQTMSV
481 LISCTTCHSE FPSRNKLFDH LKATGHARAP SSSSLNSATS SQSKKEKRKN RLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAJC21 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 83 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 83 nTPM
- testis: 67 nTPM
- tongue: 48 nTPM
- heart muscle: 36 nTPM
- placenta: 25 nTPM
- liver: 25 nTPM
Single-cell type
- late primary spermatocytes: 188 nCPM
- alveolar cells type 2: 147 nCPM
- urothelial cells: 109 nCPM
- breast lactating cells: 101 nCPM
- suprabasal keratinocytes: 98 nCPM
- transitional alveolar cells: 94 nCPM
Immune cell
- NK-cell: 6.2 nTPM
- eosinophil: 4.4 nTPM
- T-reg: 4.1 nTPM
- memory B-cell: 3.3 nTPM
- memory CD4 T-cell: 2.9 nTPM
- plasmacytoid DC: 2.9 nTPM
Brain region
- cerebral cortex: 16 nTPM
- choroid plexus: 16 nTPM
- hypothalamus: 15 nTPM
- medulla oblongata: 15 nTPM
- spinal cord: 15 nTPM
- white matter: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAJC21.
Disease | AllUniProt
Conditions DNAJC21 is implicated in, by any mechanism.
- Bone marrow failure syndrome 3 (BMFS3) MIM:617052
Disease | GeneticClinVar
49 pathogenic / likely-pathogenic of 484 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bone marrow failure syndrome 3
- Inherited bone marrow failure syndrome
- Shwachman-Diamond syndrome 1
- DNAJC21-related disorder
- Acute myeloid leukemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.25
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- DnaJ domain
- Matrin/U1-C-like, C2H2-type zinc finger
- Zinc finger C2H2-type
- DnaJ domain, conserved site
- Zinc finger, double-stranded RNA binding
- Zinc finger C2H2 superfamily
- Chaperone J-domain superfamily
- Zuotin-like, zuotin homology domain
- DnaJ domain
- Zinc-finger double-stranded RNA-binding
- Zuotin-like, zuotin homology domain
- Multifunctional chaperone and stress response protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAJC21 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAJC21 as an antibody target. Whether an autoantibody or antibody against DNAJC21 could matter depends on whether native DNAJC21 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAJC21 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNAJC21 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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