Seroatlas · Human Serome Atlas

DNAJB6

DnaJ homolog subfamily B member 6

Also known as: DNJB6_HUMAN, LGMD1D, MRJ

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75190
Gene: DNAJB6
Ensembl: ENSG00000105993
Chromosome: 7
Canonical length: 326 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

326 residues, UniProt reviewed canonical sequence.

>O75190|DNAJB6
     1  MVDYYEVLGV QRHASPEDIK KAYRKLALKW HPDKNPENKE EAERKFKQVA EAYEVLSDAK
    61  KRDIYDKYGK EGLNGGGGGG SHFDSPFEFG FTFRNPDDVF REFFGGRDPF SFDFFEDPFE
   121  DFFGNRRGPR GSRSRGTGSF FSAFSGFPSF GSGFSSFDTG FTSFGSLGHG GLTSFSSTSF
   181  GGSGMGNFKS ISTSTKMVNG RKITTKRIVE NGQERVEVEE DGQLKSLTIN GVADDDALAE
   241  ERMRRGQNAL PAQPAGLRPP KPPRPASLLR HAPHCLSEEE GEQDRPRAPG PWDPLASAAG
   301  LKEGGKRKKQ KQREESKKKK STKGNH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAJB6 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): 0.55
Highest tissue expression: 307 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 307 nTPM
bone marrow: 173 nTPM
tongue: 166 nTPM
skin: 127 nTPM
blood vessel: 126 nTPM
cerebellum: 123 nTPM

Single-cell type

breast lactating cells: 1,094 nCPM
esophageal apical cells: 931 nCPM
platelets: 792 nCPM
suprabasal keratinocytes: 769 nCPM
pancreatic duct cells: 605 nCPM
hematopoietic stem cells: 595 nCPM

Immune cell

basophil: 346 nTPM
neutrophil: 289 nTPM
total PBMC: 247 nTPM
non-classical monocyte: 207 nTPM
eosinophil: 202 nTPM
intermediate monocyte: 168 nTPM

Brain region

white matter: 143 nTPM
cerebral cortex: 131 nTPM
choroid plexus: 119 nTPM
midbrain: 114 nTPM
cerebellum: 114 nTPM
pons: 114 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAJB6.

Disease | AllUniProt

Conditions DNAJB6 is implicated in, by any mechanism.

Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) MIM:603511

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 518 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, classic type, 1
Abnormality of the musculature

Disease | ImmuneIEDB

Conditions an epitope on DNAJB6 was assayed in.

berylliosis T cell

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): 0.4
gnomAD pLI: 0.85
gnomAD missense Z: 1.17
DepMap mean gene effect: -0.32
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAJB6 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 DNAJB6 as an antibody target. Whether an autoantibody or antibody against DNAJB6 could matter depends on whether native DNAJB6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAJB6 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 DNAJB6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...