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

Summary

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, Dec 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

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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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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 more info	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)

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

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