DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJA4provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member A4provided by HGNC
Primary source: HGNC:HGNC:14885
See related: Ensembl:ENSG00000140403 AllianceGenome:HGNC:14885
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MST104; MSTP104; PRO1472
Summary: Enables protein-folding chaperone binding activity and unfolded protein binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of inclusion body assembly; and protein refolding. Located in cytosol and membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in heart (RPKM 43.9), testis (RPKM 33.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (78264145..78282191)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (76126705..76144763)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (78556487..78574533)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

DNAJA4 suppresses epithelial-mesenchymal transition and metastasis in nasopharyngeal carcinoma via PSMD2-mediated MYH9 degradation.
Title: DNAJA4 suppresses epithelial-mesenchymal transition and metastasis in nasopharyngeal carcinoma via PSMD2-mediated MYH9 degradation.
DNAJA4 Promotes the Replication of the Chinese Giant Salamander Iridovirus.
Title: DNAJA4 Promotes the Replication of the Chinese Giant Salamander Iridovirus.
DNA methylation status of DNAJA4 is essential for human erythropoiesis.
Title: DNA methylation status of DNAJA4 is essential for human erythropoiesis.
DnaJA4 is involved in responses to hyperthermia by regulating the expression of F-actin in HaCaT cells.
Title: DnaJA4 is involved in responses to hyperthermia by regulating the expression of F-actin in HaCaT cells.
Hyperthermia reduced HaCaT cell proliferation and promoted cytokine expressions responsible for anti-viral activity, mainly through a NF-kB dependent pathway. DNAJA4-deficiency enhanced the activation of NF-kB by hyperthermia in HaCaT cells.
Title: DNAJA4 deficiency enhances NF-kappa B-related growth arrest induced by hyperthermia in human keratinocytes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12207 (e-PCR)
- UniSTS:80961

D15S731E (e-PCR)
- UniSTS:151625

A007H23 (e-PCR)
- UniSTS:15989

D15S706E (e-PCR)
- UniSTS:7847

G19898 (e-PCR)
- UniSTS:56532

A002B35 (e-PCR)
- UniSTS:56533

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inclusion body assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein refolding	IDA Inferred from Direct Assay more info	PubMed
involved_in response to heat	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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 cytosol	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily A member 4

Names: DnaJ (Hsp40) homolog, subfamily A, member 4

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_001130182.2 → NP_001123654.1 dnaJ homolog subfamily A member 4 isoform 2

See identical proteins and their annotated locations for NP_001123654.1

Status: VALIDATED

Source sequence(s)

AC090607

Consensus CDS

CCDS45316.1

UniProtKB/Swiss-Prot

E9PDM9, Q6AW87, Q8N5Z4, Q8N7P2, Q8WW22

Related

ENSP00000378321.3, ENST00000394852.8

Conserved Domains (1) summary

PTZ00037
Location:2 → 394

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_001130183.2 → NP_001123655.1 dnaJ homolog subfamily A member 4 isoform 3

Status: VALIDATED

Source sequence(s)

AC090607, AK096616, AL133096, BC031044, DA561365

Consensus CDS

CCDS45317.1

UniProtKB/Swiss-Prot

Q8WW22

UniProtKB/TrEMBL

Q69YX3

Related

ENSP00000413499.2, ENST00000446172.2

Conserved Domains (4) summary

PRK14277
Location:7 → 354

PRK14277; chaperone protein DnaJ; Provisional

cd10719
Location:108 → 174

DnaJ_zf; Zinc finger domain of DnaJ and HSP40

cd10747
Location:79 → 305

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

cl02542
Location:9 → 38

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
NM_001387384.1 → NP_001374313.1 dnaJ homolog subfamily A member 4 isoform 4

Status: VALIDATED

Source sequence(s)

AC090607

Conserved Domains (1) summary

PTZ00037
Location:2 → 412

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_001387385.1 → NP_001374314.1 dnaJ homolog subfamily A member 4 isoform 2

Status: VALIDATED

Source sequence(s)

AC090607

Consensus CDS

CCDS45316.1

UniProtKB/Swiss-Prot

E9PDM9, Q6AW87, Q8N5Z4, Q8N7P2, Q8WW22

Conserved Domains (1) summary

PTZ00037
Location:2 → 394

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_001387386.1 → NP_001374315.1 dnaJ homolog subfamily A member 4 isoform 5

Status: VALIDATED

Source sequence(s)

AC090607

Conserved Domains (1) summary

PTZ00037
Location:2 → 317

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_001387387.1 → NP_001374316.1 dnaJ homolog subfamily A member 4 isoform 6

Status: VALIDATED

Source sequence(s)

AC090607

Conserved Domains (2) summary

COG0484
Location:2 → 110

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

cl21722
Location:106 → 144

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_001387388.1 → NP_001374317.1 dnaJ homolog subfamily A member 4 isoform 2

Status: VALIDATED

Source sequence(s)

AC090607

Consensus CDS

CCDS45316.1

UniProtKB/Swiss-Prot

E9PDM9, Q6AW87, Q8N5Z4, Q8N7P2, Q8WW22

Related

ENSP00000339581.3, ENST00000343789.7

Conserved Domains (1) summary

PTZ00037
Location:2 → 394

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_018602.4 → NP_061072.3 dnaJ homolog subfamily A member 4 isoform 1

See identical proteins and their annotated locations for NP_061072.3

Status: VALIDATED

Source sequence(s)

AC090607, AK096616, AL133096, BC021720, DB047940

Consensus CDS

CCDS10299.2

UniProtKB/Swiss-Prot

Q8WW22

UniProtKB/TrEMBL

Q69YX3

Related

ENSP00000378324.3, ENST00000394855.7

Conserved Domains (4) summary

cd10719
Location:164 → 230

DnaJ_zf; Zinc finger domain of DnaJ and HSP40

cd10747
Location:135 → 361

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

PTZ00037
Location:15 → 423

PTZ00037; DnaJ_C chaperone protein; Provisional

pfam00226
Location:36 → 94

DnaJ; DnaJ domain