DNAJB4
DnaJ homolog subfamily B member 4
Also known as: DNJB4_HUMAN, HLJ1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UDY4
- Gene
- DNAJB4
- Ensembl
- ENSG00000162616
- Chromosome
- 1
- Canonical length
- 337 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Canonical amino-acid sequenceUniProt
337 residues, UniProt reviewed canonical sequence.
>Q9UDY4|DNAJB4
1 MGKDYYCILG IEKGASDEDI KKAYRKQALK FHPDKNKSPQ AEEKFKEVAE AYEVLSDPKK
61 REIYDQFGEE GLKGGAGGTD GQGGTFRYTF HGDPHATFAA FFGGSNPFEI FFGRRMGGGR
121 DSEEMEIDGD PFSAFGFSMN GYPRDRNSVG PSRLKQDPPV IHELRVSLEE IYSGCTKRMK
181 ISRKRLNADG RSYRSEDKIL TIEIKKGWKE GTKITFPREG DETPNSIPAD IVFIIKDKDH
241 PKFKRDGSNI IYTAKISLRE ALCGCSINVP TLDGRNIPMS VNDIVKPGMR RRIIGYGLPF
301 PKNPDQRGDL LIEFEVSFPD TISSSSKEVL RKHLPASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAJB4 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 67 nTPM
Expression across tissuesHPA
Tissue
- tongue: 67 nTPM
- heart muscle: 47 nTPM
- adrenal gland: 47 nTPM
- thyroid gland: 42 nTPM
- skeletal muscle: 41 nTPM
- spleen: 40 nTPM
Single-cell type
- early spermatids: 114 nCPM
- late spermatids: 59 nCPM
- late primary spermatocytes: 33 nCPM
- cardiomyocytes: 22 nCPM
- pancreatic duct cells: 14 nCPM
- schwann cells: 11 nCPM
Immune cell
- basophil: 3.3 nTPM
- naive CD4 T-cell: 3 nTPM
- plasmacytoid DC: 2.3 nTPM
- naive CD8 T-cell: 2.1 nTPM
- T-reg: 1.9 nTPM
- MAIT T-cell: 1.8 nTPM
Brain region
- white matter: 53 nTPM
- hypothalamus: 38 nTPM
- thalamus: 35 nTPM
- cerebral cortex: 35 nTPM
- midbrain: 34 nTPM
- cerebellum: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAJB4.
Disease | AllUniProt
Conditions DNAJB4 is implicated in, by any mechanism.
- Congenital myopathy 21 with early respiratory failure (CMYO21) MIM:620326
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 45 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital myopathy 21 with early respiratory failure
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)
- 0.83
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 1.21
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of transcription by RNA polymerase II
- protein folding
- response to heat
- response to unfolded protein
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAJB4 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 DNAJB4 as an antibody target. Whether an autoantibody or antibody against DNAJB4 could matter depends on whether native DNAJB4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAJB4 is annotated at the cell surface, where native DNAJB4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DNAJB4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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