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    DNLZ DNL-type zinc finger [ Homo sapiens (human) ]

    Gene ID: 728489, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNLZprovided by HGNC
    Official Full Name
    DNL-type zinc fingerprovided by HGNC
    Primary source
    HGNC:HGNC:33879
    See related
    Ensembl:ENSG00000213221 MIM:620797; AllianceGenome:HGNC:33879
    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
    HEP; HEP1; ZIM17; TIMM15; C9orf151; bA413M3.2
    Summary
    Enables protein folding chaperone. Involved in chaperone-mediated protein complex assembly. Located in nucleoplasm. Is active in cytosol; mitochondrion; and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 6.4), spleen (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNLZ in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136359483..136363744, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148588818..148593075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139253935..139258196, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 187 Neighboring gene uncharacterized LOC124902308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20507 Neighboring gene uncharacterized LOC26102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218370-139218998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139218999-139219627 Neighboring gene Sharpr-MPRA regulatory region 1004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139222157-139222686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139222687-139223215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139227274-139227906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29305 Neighboring gene G protein signaling modulator 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139237289-139238070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139238071-139238852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139239387-139240040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139240041-139240694 Neighboring gene Sharpr-MPRA regulatory region 3186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20508 Neighboring gene uncharacterized LOC124902309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139258773-139259663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139259664-139260553 Neighboring gene Sharpr-MPRA regulatory region 3996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139268303-139269016 Neighboring gene caspase recruitment domain family member 9 Neighboring gene small nuclear RNA activating complex polypeptide 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139291906-139293105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20512

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Human HSP70-escort protein 1 (hHep1) interacts with negatively charged lipid bilayers and cell membranes. Moritz MNO, et al. Cell Stress Chaperones, 2023 Nov. PMID 38001371, Free PMC Article
    2. New insights on human Hsp70-escort protein 1: Chaperone activity, interaction with liposomes, cellular localizations and HSPA's self-assemblies remodeling. Dores-Silva PR, et al. Int J Biol Macromol, 2021 Jul 1. PMID 33857516
    3. The human escort protein Hep binds to the ATPase domain of mitochondrial hsp70 and regulates ATP hydrolysis. Zhai P, et al. J Biol Chem, 2008 Sep 19. PMID 18632665, Free PMC Article
    4. Structural and stability studies of the human mtHsp70-escort protein 1: an essential mortalin co-chaperone. Dores-Silva PR, et al. Int J Biol Macromol, 2013 May. PMID 23462535
    5. A conserved histidine in human DNLZ/HEP is required for stimulation of HSPA9 ATPase activity. Zhai P, et al. Biochem Biophys Res Commun, 2011 May 20. PMID 21530495

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human HSP70-escort protein 1 (hHep1) interacts with negatively charged lipid bilayers and cell membranes.
      Title: Human HSP70-escort protein 1 (hHep1) interacts with negatively charged lipid bilayers and cell membranes.
    2. New insights on human Hsp70-escort protein 1: Chaperone activity, interaction with liposomes, cellular localizations and HSPA's self-assemblies remodeling.
      Title: New insights on human Hsp70-escort protein 1: Chaperone activity, interaction with liposomes, cellular localizations and HSPA's self-assemblies remodeling.
    3. The results indicate that hHep1 shares some structural similarities with the yeast ortholog despite the low identity and functional differences.
      Title: Structural and stability studies of the human mtHsp70-escort protein 1: an essential mortalin co-chaperone.
    4. DNLZ/HEP zinc-binding subdomain is critical for regulation of the mitochondrial chaperone HSPA9. Human DNLZ partially complements the growth of Deltazim17 Saccharomyces cerevisiae.
      Title: The DNLZ/HEP zinc-binding subdomain is critical for regulation of the mitochondrial chaperone HSPA9.
    5. These findings implicate a conserved histidine as critical for DNLZ regulation of mitochondrial HSPA9 catalytic activity.
      Title: A conserved histidine in human DNLZ/HEP is required for stimulation of HSPA9 ATPase activity.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: CARD9

    Homology

    Clone Names

    • MGC87491

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein folding chaperone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNL-type zinc finger protein
    Names
    HSP70 escort protein
    RP11-413M3.2
    hsp70-escort protein 1
    mtHsp70-escort protein
    translocase of inner mitochondrial membrane 15 homolog

    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)

    1. NM_001080849.3 → NP_001074318.1  DNL-type zinc finger protein

      See identical proteins and their annotated locations for NP_001074318.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the a protein.
      Source sequence(s)
      AI435052, AI696701, AL592301, BC146915
      Consensus CDS
      CCDS35179.1
      UniProtKB/Swiss-Prot
      B2RUX5, B9EJE1, Q5SXM8
      Related
      ENSP00000360803.3, ENST00000371738.4
      Conserved Domains (1) summary
      pfam05180
      Location:70 → 135
      zf-DNL; DNL zinc finger

    RNA

    1. NR_073565.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI435052, AI696701, AL592301, BC146924, BC171835

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136359483..136363744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148588818..148593075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SXM8.1 GenPept UniProtKB/Swiss-Prot:Q5SXM8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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