DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB4provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B4provided by HGNC
Primary source: HGNC:HGNC:14886
See related: Ensembl:ENSG00000162616 MIM:611327; AllianceGenome:HGNC:14886
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: DjB4; HLJ1; DNAJW; CMYO21; CMYP21
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 27.3), thyroid (RPKM 23.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (77979175..78017964)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (77817970..77856789)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (78444859..78483648)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer.
Title: Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer.
A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk.
Title: A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk.
DNAJB4 role as a metastasis inducer in the breast cancer.
Title: Systems-level Analysis Reveals Multiple Modulators of Epithelial-mesenchymal Transition and Identifies DNAJB4 and CD81 as Novel Metastasis Inducers in Breast Cancer.
The DNAJB4 is down-regulated in the three lines of metastatic melanoma cells relative to the corresponding primary melanoma cells.
Title: A Targeted Proteomic Approach for Heat Shock Proteins Reveals DNAJB4 as a Suppressor for Melanoma Metastasis.
These new observations support the idea that HLJ1 is a tumor suppressor candidate and potential biomarker for breast cancer
Title: HLJ1 (DNAJB4) Gene Is a Novel Biomarker Candidate in Breast Cancer.
HLJ1 is an endogenous Src inhibitor that can suppress cancer metastasis through complex interacting mechanisms.
Title: HLJ1 is an endogenous Src inhibitor suppressing cancer progression through dual mechanisms.
HLJ1 is a strong tumor suppressor for colorectal carcinoma
Title: HLJ1 is a novel biomarker for colorectal carcinoma progression and overall patient survival.
Low expression of DNAJB4 is associated with gastric carcinomas.
Title: DNAJB4 molecular chaperone distinguishes WT from mutant E-cadherin, determining their fate in vitro and in vivo.
we combined the Hsp70-NEF pairs with cochaperones of the J protein family (DnaJA1, DnaJA2, DnaJB1, and DnaJB4) to generate 16 permutations.
Title: Binding of human nucleotide exchange factors to heat shock protein 70 (Hsp70) generates functionally distinct complexes in vitro.
Silencing of HLJ1 partially reverses the inhibition of cancer-cell invasion by andrographolide.
Title: The HLJ1-targeting drug screening identified Chinese herb andrographolide that can suppress tumour growth and invasion in non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Congenital myopathy 21 with early respiratory failure MedGen: C5830424 OMIM: 620326 GeneReviews: Not available	not available

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
Tat	tat	HIV-1 Tat downregulates the expression of DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4) in human primary T cells	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to heat	TAS Traceable Author Statement more info	PubMed
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dnaJ homolog subfamily B member 4

Names: DnaJ (Hsp40) homolog, subfamily B, member 4; DnaJ-like heat shock protein 40; HSP40 homolog; heat shock 40 kDa protein 1 homolog; heat shock protein 40 homolog; human liver DnaJ-like protein

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.

mRNA and Protein(s)

NM_001317099.2 → NP_001304028.1 dnaJ homolog subfamily B member 4 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC096948, AC103591, BC034721, BI831822, BM972589

Consensus CDS

CCDS684.1

UniProtKB/Swiss-Prot

B2R824, Q13431, Q9UDY4

UniProtKB/TrEMBL

Q59E89

Conserved Domains (1) summary

COG0484
Location:1 → 332

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001317100.2 → NP_001304029.1 dnaJ homolog subfamily B member 4 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC103591, BC034721, BM972589, BX441874, CN270601, DC349099, DC412631

UniProtKB/Swiss-Prot

Q9UDY4

Conserved Domains (1) summary

cd10747
Location:118 → 282

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_001317101.2 → NP_001304030.1 dnaJ homolog subfamily B member 4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).

Source sequence(s)

AC103591, BC034721, BM972589, BX441874, CN355216, DC412631

UniProtKB/TrEMBL

B4DNN2

Conserved Domains (1) summary

cd10747
Location:43 → 207

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_001317102.2 → NP_001304031.1 dnaJ homolog subfamily B member 4 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).

Source sequence(s)

AC103591, BC034721, BM972589, DC412631

UniProtKB/TrEMBL

B4DNN2

Conserved Domains (1) summary

cd10747
Location:43 → 207

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_001317103.2 → NP_001304032.1 dnaJ homolog subfamily B member 4 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AC103591, BC034721, BI910092, BM972589, DA473487

UniProtKB/Swiss-Prot

Q9UDY4

Conserved Domains (1) summary

cl28246
Location:4 → 71

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_007034.5 → NP_008965.2 dnaJ homolog subfamily B member 4 isoform a

See identical proteins and their annotated locations for NP_008965.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC103591, BC034721, BM972589, DA354925

Consensus CDS

CCDS684.1

UniProtKB/Swiss-Prot

B2R824, Q13431, Q9UDY4

UniProtKB/TrEMBL

Q59E89

Related

ENSP00000359799.5, ENST00000370763.6

Conserved Domains (1) summary

COG0484
Location:1 → 332

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