DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC5Bprovided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C5 betaprovided by HGNC
Primary source: HGNC:HGNC:24138
See related: Ensembl:ENSG00000147570 MIM:613945; AllianceGenome:HGNC:24138
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSP-beta
Summary: This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
Expression: Biased expression in testis (RPKM 18.0), lymph node (RPKM 1.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 8q13.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (66014978..66101245)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (66440668..66526936)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (66927213..67013480)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

suggest that HSPB8 may act as an intracellular factor against hepatitis C virus replication and that DNAJC5B has the same function, with more relevant results for genotype 3
Title: Heat shock proteins HSPB8 and DNAJC5B have HCV antiviral activity.
These results suggest a possible correlation between the specific membrane targeting and the palmitoylation level of CSPs.
Title: Cysteine-string protein isoform beta (Cspbeta) is targeted to the trans-Golgi network as a non-palmitoylated CSP in clonal beta-cells.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

L18426 (e-PCR)
- UniSTS:34648

D8S553 (e-PCR)
- UniSTS:59322

D8S553 (e-PCR)
- UniSTS:69347

D8S533 (e-PCR), detects polymorphism
- UniSTS:40931

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dnaJ homolog subfamily C member 5B

Names: DnaJ (Hsp40) homolog, subfamily C, member 5 beta; beta cysteine string protein; beta-CSP; cysteine string protein beta; dnaJ homolog subfamily C member X; testicular tissue protein Li 55

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.

Genomic

NG_053039.1 RefSeqGene

Range

11571..91263

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001349432.2 → NP_001336361.1 dnaJ homolog subfamily C member 5B

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC084082, AF368276, BG701336, BU627018

Consensus CDS

CCDS6183.1

UniProtKB/Swiss-Prot

Q969Y8, Q9UF47

UniProtKB/TrEMBL

A0A024R7Z1

Conserved Domains (1) summary

PRK10767
Location:21 → 84

PRK10767; chaperone protein DnaJ; Provisional
NM_033105.6 → NP_149096.2 dnaJ homolog subfamily C member 5B

See identical proteins and their annotated locations for NP_149096.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC084082, AF368276, BG701336, BU627018

Consensus CDS

CCDS6183.1

UniProtKB/Swiss-Prot

Q969Y8, Q9UF47

UniProtKB/TrEMBL

A0A024R7Z1

Related

ENSP00000276570.5, ENST00000276570.10

Conserved Domains (1) summary

PRK10767
Location:21 → 84

PRK10767; chaperone protein DnaJ; Provisional

RNA

NR_146171.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC084082, AL133660

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

66014978..66101245

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517620.3 → XP_011515922.1 dnaJ homolog subfamily C member 5B isoform X1

Conserved Domains (2) summary

COG0484
Location:21 → 88

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

pfam00226
Location:20 → 81

DnaJ; DnaJ domain