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

Gene ID: 85479, updated on 23-Nov-2021

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
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
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Genomic context

See DNAJC5B in Genome Data Viewer
Location:
8q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (66014978..66101245)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66927213..67013480)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene mitochondrial fission regulator 1 Neighboring gene uncharacterized LOC107986948 Neighboring gene phosphodiesterase 7A Neighboring gene uncharacterized LOC107986950 Neighboring gene uncharacterized LOC105375883 Neighboring gene tRNA-Tyr (anticodon GTA) 5-1 Neighboring gene tRNA-Tyr (anticodon GTA) 5-2 Neighboring gene tripartite motif containing 55

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

Associated conditions

Description Tests
Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy.
GeneReviews: Not available
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26226

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

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

  1. NG_053039.1 RefSeqGene

    Range
    4996..91261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349432.2NP_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
    Conserved Domains (1) summary
    PRK10767
    Location:2184
    PRK10767; chaperone protein DnaJ; Provisional
  2. NM_033105.6NP_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
    Q9UF47
    UniProtKB/TrEMBL
    A0A024R7Z1
    Related
    ENSP00000276570.5, ENST00000276570.10
    Conserved Domains (1) summary
    PRK10767
    Location:2184
    PRK10767; chaperone protein DnaJ; Provisional

RNA

  1. 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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    66014978..66101245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517620.2XP_011515922.1  dnaJ homolog subfamily C member 5B isoform X2

    Conserved Domains (2) summary
    COG0484
    Location:2188
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    pfam00226
    Location:2081
    DnaJ; DnaJ domain
  2. XM_011517621.2XP_011515923.1  dnaJ homolog subfamily C member 5B isoform X3

    Conserved Domains (1) summary
    pfam00226
    Location:1151
    DnaJ; DnaJ domain
  3. XM_011517619.2XP_011515921.1  dnaJ homolog subfamily C member 5B isoform X1

    Conserved Domains (1) summary
    pfam00226
    Location:4080
    DnaJ; DnaJ domain
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