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

    Gene ID: 120526, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:26979
    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
    NEW
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    Genomic context

    Location:
    11p13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (31369860..31432835)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (31505697..31568659)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31391407..31454382)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376611 Neighboring gene doublecortin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:30992221-30992721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3218 Neighboring gene NANOG hESC enhancer GRCh37_chr11:31145398-31145899 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:31326823-31328022 Neighboring gene CYCS pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4556 Neighboring gene MPRA-validated peak1237 silencer Neighboring gene MPRA-validated peak1238 silencer Neighboring gene MPRA-validated peak1240 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:31531307-31532196 Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31566030-31566638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31565420-31566029 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4558 Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene E60 enhancer downstream of PAX6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31814755-31814968 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:31827075-31827744 Neighboring gene PAX6 upstream regulatory region Neighboring gene PAX6 antisense RNA 1 Neighboring gene paired box 6 Neighboring gene PAX6 upstream antisense RNA

    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

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      A8K0V0, B1ALC1, I6L9B4, Q6P3W2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      31369860..31432835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      31505697..31568659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)