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DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 [ Homo sapiens (human) ]

Gene ID: 64215, updated on 6-Jan-2019

Summary

Official Symbol
DNAJC1provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C1provided by HGNC
Primary source
HGNC:HGNC:20090
See related
Ensembl:ENSG00000136770 MIM:611207
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
HTJ1; MTJ1; ERdj1; DNAJL1
Summary
The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]
Expression
Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See DNAJC1 in Genome Data Viewer
Location:
10p12.31
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (21756548..22003763, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22045477..22292679, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MLLT10, histone lysine methyltransferase DOT1L cofactor Neighboring gene RNA, U6 small nuclear 1141, pseudogene Neighboring gene uncharacterized LOC107984214 Neighboring gene Sharpr-MPRA regulatory region 12954 Neighboring gene RNA, 7SK small nuclear pseudogene 219 Neighboring gene Sharpr-MPRA regulatory region 11860 Neighboring gene RNA, 7SK small nuclear pseudogene 37 Neighboring gene nonconserved acetylation island sequence 68 enhancer Neighboring gene Sharpr-MPRA regulatory region 4688

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activator activity TAS
Traceable Author Statement
more info
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of proteolysis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of ATPase activity IEA
Inferred from Electronic Annotation
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dnaJ homolog subfamily C member 1
Names
DnaJ (Hsp40) homolog, subfamily C, member 1
DnaJ-like protein
dnaJ protein homolog MTJ1

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_022365.4NP_071760.2  dnaJ homolog subfamily C member 1 precursor

    See identical proteins and their annotated locations for NP_071760.2

    Status: REVIEWED

    Source sequence(s)
    AL445431, BC110894
    Consensus CDS
    CCDS7136.1
    UniProtKB/Swiss-Prot
    Q96KC8
    Related
    ENSP00000366179.3, ENST00000376980.7
    Conserved Domains (3) summary
    smart00717
    Location:495544
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd00167
    Location:496543
    SANT; 'SWI3, ADA2, N-CoR and TFIIIB' DNA-binding domains. Tandem copies of the domain bind telomeric DNA tandem repeatsas part of the capping complex. Binding is sequence dependent for repeats which contain the G/C rich motif [C2-3 A (CA)1-6]. The domain is ...
    pfam00226
    Location:65126
    DnaJ; DnaJ domain

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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    21756548..22003763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519614.3XP_011517916.1  dnaJ homolog subfamily C member 1 isoform X1

    Conserved Domains (1) summary
    pfam00226
    Location:65126
    DnaJ; DnaJ domain
  2. XM_017016536.2XP_016872025.1  dnaJ homolog subfamily C member 1 isoform X2

    Conserved Domains (1) summary
    pfam00226
    Location:65126
    DnaJ; DnaJ domain
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