DNAJC8 DnaJ heat shock protein family (Hsp40) member C8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC8provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C8provided by HGNC
Primary source: HGNC:HGNC:15470
See related: Ensembl:ENSG00000126698 AllianceGenome:HGNC:15470
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: SPF31; HSPC331
Summary: Enables Hsp70 protein binding activity. Located in cytosol; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in lymph node (RPKM 41.4), endometrium (RPKM 36.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (28200278..28233029, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (28042108..28074864, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (28526789..28559540, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNAJC8: a prognostic marker and potential therapeutic target for hepatocellular carcinoma.
Title: DNAJC8: a prognostic marker and potential therapeutic target for hepatocellular carcinoma.
TIG1 interacted with DNAJC8 in the cytosol, and this interaction completely blocked DNAJC8-mediated PKM2 translocation and inhibited glucose uptake. Furthermore, increased glycose uptake was observed in cells in which TIG1 was silenced.
Title: Tazarotene-Induced Gene 1 Interacts with DNAJC8 and Regulates Glycolysis in Cervical Cancer Cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8) at amino acid residues 62-63 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64556 (e-PCR)
- UniSTS:56337

D3S3952 (e-PCR)
- UniSTS:35447

GDB:451788 (e-PCR)
- UniSTS:157368

SHGC-111156 (e-PCR)
- UniSTS:168182

SHGC-74506 (e-PCR)
- UniSTS:71416

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 8

Names: DnaJ (Hsp40) homolog, subfamily C, member 8; splicing protein spf31

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_014280.3 → NP_055095.2 dnaJ homolog subfamily C member 8

See identical proteins and their annotated locations for NP_055095.2

Status: VALIDATED

Source sequence(s)

AL353354, DB294321

Consensus CDS

CCDS41292.1

UniProtKB/Swiss-Prot

B4DUU4, D3DPM0, O75937, Q6IBA4, Q8N4Z5, Q9P051, Q9P067

Related

ENSP00000263697.4, ENST00000263697.6

Conserved Domains (2) summary

cd06257
Location:57 → 112

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

COG2214
Location:51 → 238

CbpA; Curved DNA-binding protein CbpA, contains a DnaJ-like domain [Transcription]