DNAJC27 DnaJ (Hsp40) homolog, subfamily C, member 27 [Homo sapiens] - Gene

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Summary

Official Symbol: DNAJC27provided by HGNC
Official Full Name: DnaJ (Hsp40) homolog, subfamily C, member 27provided by HGNC
Primary source: HGNC:30290
See related: Ensembl:ENSG00000115137; HPRD:15221; MIM:613527; Vega:OTTHUMG00000125524
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; DKFZp434N211

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Genomic context

Location :: 2p23.3

Sequence :: Chromosome: 2; NC_000002.11 (25166505..25194963, complement)

See DNAJC27 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Many sequence variants affecting diversity of adult human height.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
NP_057628.1				BIND	PubMed	Rap1 interacts with GTP. This interaction was modelled on a demonstrated interaction with Rap1 from hamster.

Function	Evidence Code	Pubs
GTP binding	IEA Inferred from Electronic Annotation more info
heat shock protein binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
protein folding	IEA Inferred from Electronic Annotation more info
small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: dnaJ homolog subfamily C member 27

Names: dnaJ homolog subfamily C member 27; Ras-associated protein Rap1; rab and DnaJ domain-containing protein

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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)

NM_001198559.1 → NP_001185488.1 dnaJ homolog subfamily C member 27 isoform 2

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

UniProtKB/Swiss-Prot

Q9NZQ0

Conserved Domains (1) summary

cd04119
Location:17 – 176
Blast Score: 827

RJL; Rab GTPase family J-like (RabJ-like)
NM_016544.2 → NP_057628.1 dnaJ homolog subfamily C member 27 isoform 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, OTTHUMP00000155184, ENST00000264711, OTTHUMT00000246855

Conserved Domains (2) summary

cd06257
Location:217 – 264
Blast Score: 148

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
Blast Score: 862

RJL; Rab GTPase family J-like (RabJ-like)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

25166505..25194963, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

24904307..24933051, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC012073.9	AAY14788.1
genomic	AC013267.11	AAX93052.1
genomic	CH471053.2	EAX00735.1
		EAX00736.1
		EAX00737.1
		EAX00738.1
mRNA	AF178983.1	AAF44347.1
mRNA	AK294726.1	BAG57873.1
mRNA	AL117490.1	None
mRNA	AL137731.1	CAI46214.1
mRNA	AY094594.1	AAM22521.1
mRNA	BC034049.1	AAH34049.1
mRNA	BK001284.1	DAA01323.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q53T06	GenPept	UniProtKB/TrEMBL:Q53T06
Q53T53	GenPept	UniProtKB/TrEMBL:Q53T53
Q9NZQ0.1	GenPept	UniProtKB/Swiss-Prot:Q9NZQ0