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

Gene ID: 64215, updated on 15-Jul-2024

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; AllianceGenome:HGNC:20090
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
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Genomic context

See DNAJC1 in Genome Data Viewer
Location:
10p12.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (21756548..22003730, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (21775622..22022755, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22045477..22292659, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MLLT10 histone lysine methyltransferase DOT1L cofactor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21952461-21953111 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21954039-21954538 Neighboring gene Sharpr-MPRA regulatory region 7684 Neighboring gene RNA, U6 small nuclear 1141, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:21999974-22000474 Neighboring gene NANOG hESC enhancer GRCh37_chr10:22015451-22015952 Neighboring gene uncharacterized LOC107984214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22036939-22037438 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:22039902-22041101 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22041514-22042174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22042835-22043494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22043495-22044154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22045403-22046279 Neighboring gene NANOG hESC enhancer GRCh37_chr10:22085326-22085864 Neighboring gene Sharpr-MPRA regulatory region 11860 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:22099351-22100550 Neighboring gene RN7SK pseudogene 219 Neighboring gene MPRA-validated peak900 silencer Neighboring gene MPRA-validated peak901 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:22157554-22158082 Neighboring gene MPRA-validated peak902 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22220654-22221154 Neighboring gene RN7SK pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22292323-22292823 Neighboring gene Sharpr-MPRA regulatory region 4958 Neighboring gene nonconserved acetylation island sequence 68 enhancer Neighboring gene Sharpr-MPRA regulatory region 4688 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:22339665-22339854 Neighboring gene MPRA-validated peak904 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22417997-22418608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3127 Neighboring gene MPRA-validated peak905 silencer Neighboring gene MPRA-validated peak906 silencer Neighboring gene adiponectin receptor 1 pseudogene 1 Neighboring gene endogenous Bornavirus like nucleoprotein 1

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC131954

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase activator activity TAS
Traceable Author Statement
more info
PubMed 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-folding chaperone binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in negative regulation of proteolysis TAS
Traceable Author Statement
more info
PubMed 
involved_in protein folding IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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_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
    B0YIZ8, Q5VX89, Q96KC8, Q9H6B8
    Related
    ENSP00000366179.3, ENST00000376980.8
    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: 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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    21756548..22003730 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519614.4XP_011517916.1  dnaJ homolog subfamily C member 1 isoform X1

    Conserved Domains (1) summary
    pfam00226
    Location:65126
    DnaJ; DnaJ domain
  2. XM_047425628.1XP_047281584.1  dnaJ homolog subfamily C member 1 isoform X2

  3. XM_017016536.3XP_016872025.1  dnaJ homolog subfamily C member 1 isoform X2

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    21775622..22022755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366549.1XP_054222524.1  dnaJ homolog subfamily C member 1 isoform X1

  2. XM_054366550.1XP_054222525.1  dnaJ homolog subfamily C member 1 isoform X2