Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide ... See more...

Aliases for DNAJC24 Gene

Aliases for DNAJC24 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C24 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 24 2 3
  • CSL-Type Zinc Finger-Containing Protein 3 3 4
  • Diphthamide Biosynthesis Protein 4 3 4
  • DnaJ Homolog Subfamily C Member 24 3 4
  • DPH4 Homolog (JJJ3, S. Cerevisiae) 2 3
  • Zinc Finger, CSL-Type Containing 3 2 3
  • ZCSL3 3 4
  • DPH4 3 4
  • Zinc Finger, CSL Domain Containing 3 3
  • DPH4, JJJ3 Homolog (S. Cerevisiae) 2
  • DPH4, JJJ3 Homolog 3
  • 1700030A21Rik 3
  • JJJ3 3

External Ids for DNAJC24 Gene

Previous HGNC Symbols for DNAJC24 Gene

  • ZCSL3
  • DPH4

Previous GeneCards Identifiers for DNAJC24 Gene

  • GC11P031085

Summaries for DNAJC24 Gene

Entrez Gene Summary for DNAJC24 Gene

  • Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAJC24 Gene

DNAJC24 (DnaJ Heat Shock Protein Family (Hsp40) Member C24) is a Protein Coding gene. Diseases associated with DNAJC24 include Diphtheria and Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include ferrous iron binding and ATPase activator activity. An important paralog of this gene is DNAJC1.

UniProtKB/Swiss-Prot Summary for DNAJC24 Gene

  • Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).

Additional gene information for DNAJC24 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC24 Gene

Genomics for DNAJC24 Gene

GeneHancer (GH) Regulatory Elements for DNAJC24 Gene

Promoters and enhancers for DNAJC24 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J031369 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 486 2.6 ZBTB40 ZNF217 EP300 TCF12 SIN3A POLR2G SP1 PHF8 POLR2A ZBTB11 DCDC1 DNAJC24 piR-38352-073
GH11J031368 Promoter 0.3 Ensembl 500.7 -1.1 -1114 0.2 DNAJC24 DCDC1 piR-57133-071
GH11J032172 Enhancer 0.7 dbSUPER 10.1 +803.2 803218 2 CTCF REST RAD21 TRIM22 SMC3 PBX2 ZBTB11 EBF1 ZNF654 EZH2 HSALNG0083465 RCN1 HNRNPA3P9 DNAJC24 QSER1 SNORA88-001 THEM7P
GH11J031247 Enhancer 0.7 UCNEbase Ensembl 5.7 -122.8 -122781 1.3 EP300 GATA3 MYC DNAJC24 lnc-IMMP1L-8 CYCSP25 lnc-IMMP1L-3 DCDC1
GH11J031241 Enhancer 0.5 UCNEbase Ensembl 5.6 -127.0 -127014 2.4 lnc-IMMP1L-8 DCDC1 DNAJC24 IMMP1L lnc-IMMP1L-3 CYCSP25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC24 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC24

Top Transcription factor binding sites by QIAGEN in the DNAJC24 gene promoter:
  • AML1a
  • FOXI1
  • HFH-3
  • HNF-3beta
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for DNAJC24 Gene

Genomic Locations for DNAJC24 Gene
chr11:31,369,815-31,432,835
(GRCh38/hg38)
Size:
63,021 bases
Orientation:
Plus strand
chr11:31,391,377-31,454,382
(GRCh37/hg19)
Size:
63,006 bases
Orientation:
Plus strand

Genomic View for DNAJC24 Gene

Genes around DNAJC24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC24 Gene

Proteins for DNAJC24 Gene

  • Protein details for DNAJC24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P3W2-DJC24_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 24
    Protein Accession:
    Q6P3W2
    Secondary Accessions:
    • A8K0V0
    • B1ALC1
    • I6L9B4

    Protein attributes for DNAJC24 Gene

    Size:
    149 amino acids
    Molecular mass:
    17139 Da
    Quaternary structure:
    • Monomer and homooligomer. Iron binding promotes oligomerization.
    SequenceCaution:
    • Sequence=AAH36571.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH63804.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF82354.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNAJC24 Gene

    Alternative splice isoforms for DNAJC24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC24 Gene

Post-translational modifications for DNAJC24 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC24 Gene

Antibody Products

  • Abcam antibodies for DNAJC24

No data available for DME Specific Peptides for DNAJC24 Gene

Domains & Families for DNAJC24 Gene

Gene Families for DNAJC24 Gene

Protein Domains for DNAJC24 Gene

Suggested Antigen Peptide Sequences for DNAJC24 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger, CSL-type containing 3, isoform CRA_c (D3DQZ6_HUMAN)
  • DPH4 homolog (DJC24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P3W2

UniProtKB/Swiss-Prot:

DJC24_HUMAN :
  • The DPH-type metal-binding (MB) domain can bind either zinc or iron ions.
  • Belongs to the DPH4 family.
Domain:
  • The DPH-type metal-binding (MB) domain can bind either zinc or iron ions.
Family:
  • Belongs to the DPH4 family.
genes like me logo Genes that share domains with DNAJC24: view

Function for DNAJC24 Gene

Molecular function for DNAJC24 Gene

UniProtKB/Swiss-Prot Function:
Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron-bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).

Phenotypes From GWAS Catalog for DNAJC24 Gene

Gene Ontology (GO) - Molecular Function for DNAJC24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 22367199
GO:0008198 ferrous iron binding IDA 22367199
GO:0008270 zinc ion binding IDA 22367199
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DNAJC24: view
genes like me logo Genes that share phenotypes with DNAJC24: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC24 Gene

Localization for DNAJC24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC24 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC24 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAJC24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DNAJC24: view

Pathways & Interactions for DNAJC24 Gene

genes like me logo Genes that share pathways with DNAJC24: view

UniProtKB/Swiss-Prot Q6P3W2-DJC24_HUMAN

  • Pathway: Protein modification; peptidyl-diphthamide biosynthesis.

Interacting Proteins for DNAJC24 Gene

;

Gene Ontology (GO) - Biological Process for DNAJC24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA --
GO:0032781 positive regulation of ATPase activity IDA,IBA 22367199
GO:0055114 oxidation-reduction process IEA --
GO:0061077 chaperone-mediated protein folding TAS 22367199
genes like me logo Genes that share ontologies with DNAJC24: view

No data available for SIGNOR curated interactions for DNAJC24 Gene

Drugs & Compounds for DNAJC24 Gene

No Compound Related Data Available

Transcripts for DNAJC24 Gene

mRNA/cDNA for DNAJC24 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC24 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - -
SP2: - - - -
SP3:
SP4: - - -
SP5: - - - - - - -
SP6:

Relevant External Links for DNAJC24 Gene

GeneLoc Exon Structure for
DNAJC24

Expression for DNAJC24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC24 Gene

Protein differential expression in normal tissues from HIPED for DNAJC24 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC24 Gene



Protein tissue co-expression partners for DNAJC24 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC24

SOURCE GeneReport for Unigene cluster for DNAJC24 Gene:

Hs.187269

Evidence on tissue expression from TISSUES for DNAJC24 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DNAJC24: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC24 Gene

Orthologs for DNAJC24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNAJC24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC24 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJC24 30
  • 92.17 (n)
cow
(Bos Taurus)
Mammalia DNAJC24 31 30
  • 91.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc24 17 31 30
  • 83.56 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc24 30
  • 83.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC24 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAJC24 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC24 31 30
  • 72.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc24 30
  • 60.23 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajc24 31 30
  • 60.42 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11140 30
Species where no ortholog for DNAJC24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAJC24 Gene

ENSEMBL:
Gene Tree for DNAJC24 (if available)
TreeFam:
Gene Tree for DNAJC24 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC24: view image

Paralogs for DNAJC24 Gene

(15) SIMAP similar genes for DNAJC24 Gene using alignment to 6 proteins:

  • DJC24_HUMAN
  • E9PID3_HUMAN
  • E9PRW3_HUMAN
  • H0YCV1_HUMAN
  • I6L9B4_HUMAN
  • J3KPT8_HUMAN

Pseudogenes.org Pseudogenes for DNAJC24 Gene

genes like me logo Genes that share paralogs with DNAJC24: view

Variants for DNAJC24 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC24 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs111299050 A breast cancer sample p.Asn23Asp

Additional dbSNP identifiers (rs#s) for DNAJC24 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAJC24 Gene

Variant ID Type Subtype PubMed ID
dgv1734n54 CNV loss 21841781
dgv1735n54 CNV loss 21841781
dgv1736n54 CNV gain+loss 21841781
dgv1737n54 CNV loss 21841781
dgv1738n54 CNV loss 21841781
dgv1739n54 CNV loss 21841781
dgv197e199 CNV deletion 23128226
dgv205n67 CNV loss 20364138
dgv30n73 CNV deletion 24416366
dgv611n106 CNV deletion 24896259
esv1006845 CNV loss 20482838
esv22237 CNV gain+loss 19812545
esv2744311 CNV deletion 23290073
esv2744312 CNV deletion 23290073
esv2751022 CNV loss 17911159
esv3547538 CNV deletion 23714750
esv3625827 CNV loss 21293372
esv3625828 CNV gain 21293372
esv3625829 CNV loss 21293372
nsv1040432 CNV loss 25217958
nsv1042013 CNV loss 25217958
nsv1046329 CNV loss 25217958
nsv1069570 CNV deletion 25765185
nsv467784 CNV loss 19166990
nsv498752 CNV loss 21111241
nsv508621 CNV deletion 20534489
nsv514608 CNV loss 21397061
nsv529004 CNV loss 19592680
nsv553949 CNV loss 21841781
nsv553950 CNV loss 21841781
nsv553954 CNV loss 21841781
nsv553970 CNV gain 21841781
nsv553976 CNV gain+loss 21841781
nsv553983 CNV loss 21841781
nsv7725 CNV deletion 18451855
nsv820247 CNV gain 19587683
nsv820987 CNV deletion 20802225
nsv832106 CNV gain 17160897

Variation tolerance for DNAJC24 Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC24 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC24 Gene

Disorders for DNAJC24 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNAJC24 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diphtheria
  • corynebacterium infection
wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • wagr
aniridia 1
  • an1
iris disease
  • iris diseases
coloboma of optic nerve
  • morning glory disc anomaly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJC24

genes like me logo Genes that share disorders with DNAJC24: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJC24 Gene

Publications for DNAJC24 Gene

  1. Structure and mechanistic insights into novel iron-mediated moonlighting functions of human J-protein cochaperone, Dph4. (PMID: 22367199) Thakur A … D'Silva P (The Journal of biological chemistry 2012) 3 4 54
  2. Immunotoxin resistance via reversible methylation of the DPH4 promoter is a unique survival strategy. (PMID: 22509046) Wei H … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. (PMID: 15485916) Liu S … Leppla SH (Molecular and cellular biology 2004) 2 3 54

Products for DNAJC24 Gene

Sources for DNAJC24 Gene