DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB11provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B11provided by HGNC
Primary source: HGNC:HGNC:14889
See related: Ensembl:ENSG00000090520 MIM:611341; AllianceGenome:HGNC:14889
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DJ9; EDJ; Dj-9; ERj3; PKD6; ABBP2; ERdj3; ERj3p; ABBP-2; UNQ537; PRO1080
Summary: This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
Expression: Ubiquitous expression in thyroid (RPKM 37.3), appendix (RPKM 33.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186570720..186585793)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189386442..189401527)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186288509..186303582)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Title: DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Title: Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
These findings suggest that, under normal conditions, ERdj3 functions as an ER chaperone in complex with SDF2/SDF2L1 but is secreted into the extracellular space when it cannot form this complex.
Title: SDF2-like protein 1 (SDF2L1) regulates the endoplasmic reticulum localization and chaperone activity of ERdj3 protein.
strong positive expression of DNAJB11 was an independent prognostic factor for disease-free survival and overall survival in epithelial ovarian cancer
Title: [Expression and clinical significance of DNAJB11 in epithelial ovarian cancer].
ERdj3 expression is enhanced in hepatocellular carcinoma (HCC) tumors and is positively associated with more inferior survival outcomes. ERdj3 promotes intracellular Z mutant of alpha-1-antitrypsin (AATZ) accumulation in HCC cells via suppressing post-transcriptional AATZ degradation and promotes HCC cell proliferation, epithelial-mesenchymal transition, migratory ability and invasiveness in an AATZ-dependent manner.
Title: The endoplasmic reticulum co-chaperone ERdj3/DNAJB11 promotes hepatocellular carcinoma progression through suppressing AATZ degradation.
DNAJB11-associated disease is a phenotypic hybrid of Autosomal-dominant polycystic kidney disease and autosomal-dominant tubulointerstitial diseases.
Title: Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
ZAAT ER clearance resulted from enhancing ERdj3-mediated ZAAT degradation by silencing ERdj3 while simultaneously enhancing autophagy. In this context, ERdj3 suppression may eliminate the toxic gain of function associated with polymerization of ZAAT
Title: Erdj3 Has an Essential Role for Z Variant Alpha-1-Antitrypsin Degradation.
These results reveal ERdj3 tetramerization as an important structural framework for ERdj3 functions involved in coordinating endplasmic reticulum and extracellular proteostasis in the presence and absence of endplasmic reticulum stress.
Title: The endoplasmic reticulum HSP40 co-chaperone ERdj3/DNAJB11 assembles and functions as a tetramer.
BiP facilitates Sec61 channel closure (i.e. limits ER Ca(2+) leakage) via the Sec61 channel with the help of ERj3 and ERj6
Title: Co-chaperone Specificity in Gating of the Polypeptide Conducting Channel in the Membrane of the Human Endoplasmic Reticulum.
Depleting ERdj3 reduced the rate of mutant GCase degradation in patient-derived fibroblasts, while increasing folding, trafficking, and function by directing GCase to the profolding ER calnexin pathway.
Title: ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Polycystic kidney disease 6 with or without polycystic liver disease MedGen: C4748044 OMIM: 618061 GeneReviews: Polycystic Kidney Disease, Autosomal Dominant	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with DNAJB11; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S3570 (e-PCR)
- UniSTS:25092

SGC30641 (e-PCR)
- UniSTS:80918

SHGC-77609 (e-PCR)
- UniSTS:51891

G62878 (e-PCR)
- UniSTS:140003

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables misfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables misfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mRNA modification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
part_of endoplasmic reticulum chaperone complex	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily B member 11

Names: APOBEC1-binding protein 2; DnaJ (Hsp40) homolog, subfamily B, member 11; DnaJ protein 9; ER-associated DNAJ protein 3; ER-associated Hsp40 co-chaperone; ER-resident protein ERdj3; PWP1-interacting protein 4; endoplasmic reticulum DNA J domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034024.1 RefSeqGene

Range

5045..20118

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378451.1 → NP_001365380.1 dnaJ homolog subfamily B member 11 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC068631

Conserved Domains (1) summary

COG0484
Location:22 → 252

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_016306.6 → NP_057390.1 dnaJ homolog subfamily B member 11 isoform 1 precursor

See identical proteins and their annotated locations for NP_057390.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC068631

Consensus CDS

CCDS3277.1

UniProtKB/Swiss-Prot

Q542Y5, Q542Y9, Q6IAQ8, Q96JC6, Q9UBS4

Related

ENSP00000265028.3, ENST00000265028.8

Conserved Domains (1) summary

COG0484
Location:22 → 344

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RNA

NR_165638.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631

Related

ENST00000680338.1
NR_165639.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631
NR_165640.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631
NR_165641.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631
NR_165642.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631
NR_165643.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068631