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

Gene ID: 51277, updated on 13-Feb-2019

Summary

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
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
Expression
Broad expression in testis (RPKM 15.3), brain (RPKM 3.5) and 22 other tissues See more
Orthologs

Genomic context

See DNAJC27 in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (24943636..24972094, complement)
105 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 peptidyl-tRNA hydrolase domain containing 1 Neighboring gene centromere protein O Neighboring gene uncharacterized LOC105377626 Neighboring gene adenylate cyclase 3 Neighboring gene DNAJC27 antisense RNA 1 Neighboring gene ribosomal protein S13 pseudogene 5 Neighboring gene RNA, 7SL, cytoplasmic 856, pseudogene Neighboring gene EFR3 homolog B

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis identifies common variants associated with body mass index in east Asians.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434N211

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001198559.1NP_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:17176
    RJL; Rab GTPase family J-like (RabJ-like)
  2. NM_016544.2NP_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
    Q9NZQ0
    Related
    ENSP00000264711.2, ENST00000264711.6
    Conserved Domains (2) summary
    cd06257
    Location:217264
    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:17184
    RJL; Rab GTPase family J-like (RabJ-like)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011532902.1XP_011531204.1  dnaJ homolog subfamily C member 27 isoform X1

    Conserved Domains (2) summary
    cd04119
    Location:17176
    RJL; Rab GTPase family J-like (RabJ-like)
    smart00175
    Location:17177
    RAB; Rab subfamily of small GTPases

RNA

  1. XR_244938.2 RNA Sequence

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