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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women.
Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
ITIH4 and MTJ1 co-immunoprecipitate from total liver protein extracts and SANT domain of HTJ1 protects the ITIH4(588-930) recombinant fragment
Title: BIP co-chaperone MTJ1/ERDJ1 interacts with inter-alpha-trypsin inhibitor heavy chain 4.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-3893 (e-PCR)
- UniSTS:47372

SGC35686 (e-PCR)
- UniSTS:34601

WI-21812 (e-PCR)
- UniSTS:26164

RH81095 (e-PCR)
- UniSTS:90457

D10S2405 (e-PCR)
- UniSTS:80226

RH44689 (e-PCR)
- UniSTS:59265

SGC32110 (e-PCR)
- UniSTS:15523

RH17498 (e-PCR)
- UniSTS:64699

SGC33575 (e-PCR)
- UniSTS:6589

G17496 (e-PCR)
- UniSTS:30683

D10S1734 (e-PCR)
- UniSTS:49138

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 more info	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

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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)

NM_022365.4 → NP_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:495 → 544

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd00167
Location:496 → 543

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:65 → 126

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

21756548..22003730 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00226
Location:65 → 126

DnaJ; DnaJ domain
XM_047425628.1 → XP_047281584.1 dnaJ homolog subfamily C member 1 isoform X2
XM_017016536.3 → XP_016872025.1 dnaJ homolog subfamily C member 1 isoform X2

Conserved Domains (1) summary

pfam00226
Location:65 → 126

DnaJ; DnaJ domain