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

    Gene ID: 51277, updated on 28-Oct-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, Oct 2024]
    Expression
    Broad expression in testis (RPKM 15.3), brain (RPKM 3.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC27 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24943636..24972094, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24978367..25006824, complement)
    RS_2024_09 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 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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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