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DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 [ Homo sapiens (human) ]

Gene ID: 51277, updated on 11-Apr-2024

Summary

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Official Symbol
DNAJC27provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C27provided by HGNC
Primary source
HGNC:HGNC:30290
See related
Ensembl:ENSG00000115137 MIM:613527; AllianceGenome:HGNC:30290
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
RBJ; RabJS
Summary
Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport and positive regulation of MAPK cascade. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.3), brain (RPKM 3.5) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
2p23.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24943636..24972094, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24978367..25006824, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25166505..25194963, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377626 Neighboring gene Sharpr-MPRA regulatory region 9030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25056543-25057467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25057468-25058391 Neighboring gene adenylate cyclase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25097035-25097779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25121605-25122524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126133-25126634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126635-25127134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11236 Neighboring gene uncharacterized LOC124907742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25149032-25149746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15437 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25180226-25181180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25194318-25194836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25194837-25195355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25195356-25195873 Neighboring gene DNAJC27 antisense RNA 1 Neighboring gene ribosomal protein S13 pseudogene 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25254365-25254864 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:25263953-25264902 and GRCh37_chr2:25264903-25265851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11243 Neighboring gene RNA, 7SL, cytoplasmic 856, pseudogene Neighboring gene EFR3 homolog B

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
  • 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. Small GTPase RBJ mediates nuclear entrapment of MEK1/MEK2 in tumor progression. Chen T, et al. Cancer Cell, 2014 May 12. PMID 24746703
  2. Insulin regulates the dynamic balance between Ras and Rap1 signaling by coordinating the assembly states of the Grb2-SOS and CrkII-C3G complexes. Okada S, et al. EMBO J, 1998 May 1. PMID 9564038, Free PMC Article
  3. RJLs: a new family of Ras-related GTP-binding proteins. Nepomuceno-Silva JL, et al. Gene, 2004 Mar 3. PMID 14980719
  4. Meta-analysis identifies common variants associated with body mass index in east Asians. Wen W, et al. Nat Genet, 2012 Feb 19. PMID 22344219, Free PMC Article
  5. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP, et al. PLoS Genet, 2011 Sep. PMID 21980299, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. these data suggest that RBJ may be an oncogenic Ras-related small GTPase mediating nuclear accumulation of active MEK1/MEK2 in tumor progression.
    Title: Small GTPase RBJ mediates nuclear entrapment of MEK1/MEK2 in tumor progression.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
EBI GWAS Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis identifies common variants associated with body mass index in east Asians.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

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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Markers

Homology

Clone Names

  • DKFZp434N211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dnaJ homolog subfamily C member 27
Names
DnaJ (Hsp40) homolog, subfamily C, member 27
Ras-associated protein Rap1
rab and DnaJ domain-containing protein
NP_001185488.1
NP_057628.1
XP_011531204.1
XP_047300603.1
XP_047300604.1
XP_054198393.1
XP_054198394.1
XP_054198395.1

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_001198559.1 → NP_001185488.1  dnaJ homolog subfamily C member 27 isoform 2

    See identical proteins and their annotated locations for NP_001185488.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC012073, AC013267, AY094594, BC034049
    Consensus CDS
    CCDS74493.1
    UniProtKB/Swiss-Prot
    Q9NZQ0
    Related
    ENSP00000440086.2, ENST00000534855.5
    Conserved Domains (1) summary
    cd04119
    Location:17 → 176
    RJL; Rab GTPase family J-like (RabJ-like)

  2. NM_016544.3 → NP_057628.1  dnaJ homolog subfamily C member 27 isoform 1

    See identical proteins and their annotated locations for NP_057628.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012073, AC013267, BC034049
    Consensus CDS
    CCDS1716.1
    UniProtKB/Swiss-Prot
    Q5JV88, Q86Y24, Q9NZQ0
    UniProtKB/TrEMBL
    Q53T06
    Related
    ENSP00000264711.2, ENST00000264711.7
    Conserved Domains (2) summary
    cd06257
    Location:217 → 264
    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, ...
    cd04119
    Location:17 → 184
    RJL; Rab GTPase family J-like (RabJ-like)

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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    24943636..24972094 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444647.1 → XP_047300603.1  dnaJ homolog subfamily C member 27 isoform X1

  2. XM_047444648.1 → XP_047300604.1  dnaJ homolog subfamily C member 27 isoform X1

  3. XM_011532902.2 → XP_011531204.1  dnaJ homolog subfamily C member 27 isoform X2

    UniProtKB/TrEMBL
    Q53T06
    Conserved Domains (2) summary
    cd04119
    Location:17 → 176
    RJL; Rab GTPase family J-like (RabJ-like)
    smart00175
    Location:17 → 177
    RAB; Rab subfamily of small GTPases

RNA

  1. XR_007076386.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24978367..25006824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342418.1 → XP_054198393.1  dnaJ homolog subfamily C member 27 isoform X1

  2. XM_054342419.1 → XP_054198394.1  dnaJ homolog subfamily C member 27 isoform X1

  3. XM_054342420.1 → XP_054198395.1  dnaJ homolog subfamily C member 27 isoform X2

RNA

  1. XR_008486390.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZQ0.1 GenPept UniProtKB/Swiss-Prot:Q9NZQ0

Gene LinkOut

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