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DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 [ Homo sapiens (human) ]

Gene ID: 120526, updated on 15-Apr-2019

Summary

Official Symbol
DNAJC24provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C24provided by HGNC
Primary source
HGNC:HGNC:26979
See related
Ensembl:ENSG00000170946 MIM:611072
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
DPH4; JJJ3; ZCSL3
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 5.9), skin (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See DNAJC24 in Genome Data Viewer
Location:
11p13
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (31369830..31432835)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31391377..31454382)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376611 Neighboring gene doublecortin domain containing 1 Neighboring gene CYCS pseudogene 25 Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene elongator acetyltransferase complex subunit 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrous iron binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chaperone-mediated protein folding TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dnaJ homolog subfamily C member 24
Names
1700030A21Rik
CSL-type zinc finger-containing protein 3
DPH4 homolog (JJJ3, S. cerevisiae)
DPH4, JJJ3 homolog
DnaJ (Hsp40) homolog, subfamily C, member 24
diphthamide biosynthesis protein 4
zinc finger, CSL domain containing 3
zinc finger, CSL-type containing 3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_181706.5NP_859057.4  dnaJ homolog subfamily C member 24

    See identical proteins and their annotated locations for NP_859057.4

    Status: VALIDATED

    Source sequence(s)
    AC108456, AL833128
    Consensus CDS
    CCDS7873.2
    UniProtKB/Swiss-Prot
    Q6P3W2
    UniProtKB/TrEMBL
    A0A0A0MT77
    Related
    ENSP00000417548.1, ENST00000465995.6
    Conserved Domains (2) summary
    pfam00226
    Location:1179
    DnaJ; DnaJ domain
    pfam05207
    Location:99148
    zf-CSL; CSL zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    31369830..31432835
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002957125.1 RNA Sequence

  2. XR_001747771.2 RNA Sequence

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