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Aliases for DNAJC1 Gene

Aliases for DNAJC1 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C1 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 1 2 3
  • DnaJ Protein Homolog MTJ1 3 4
  • HTJ1 3 4
  • DnaJ Homolog Subfamily C Member 1 3
  • DnaJ-Like Protein 3
  • DNAJL1 3
  • ERdj1 3
  • MTJ1 3

External Ids for DNAJC1 Gene

Previous GeneCards Identifiers for DNAJC1 Gene

  • GC10M022195
  • GC10M022049
  • GC10M022085

Summaries for DNAJC1 Gene

Entrez Gene Summary for DNAJC1 Gene

  • 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]

GeneCards Summary for DNAJC1 Gene

DNAJC1 (DnaJ Heat Shock Protein Family (Hsp40) Member C1) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include chromatin binding and ATPase activator activity. An important paralog of this gene is DNAJC2.

UniProtKB/Swiss-Prot for DNAJC1 Gene

  • May modulate protein synthesis.

Gene Wiki entry for DNAJC1 Gene

Additional gene information for DNAJC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC1 Gene

Genomics for DNAJC1 Gene

GeneHancer (GH) Regulatory Elements for DNAJC1 Gene

Promoters and enhancers for DNAJC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I022001 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 469 2.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF302 DNAJC1 BMI1 MLLT10 SKIDA1 GC10M021938 GC10P021805
GH10I022228 Enhancer 1.6 FANTOM5 Ensembl ENCODE 10 -225.9 -225925 3 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZFP41 TRN-GTT2-3 PIR53259 MLLT10 BMI1 COMMD3 SKIDA1 DNAJC1 EBLN1 LOC105376446
GH10I021297 Enhancer 1 ENCODE dbSUPER 9.9 +706.0 706036 0.9 ZSCAN4 ZNF76 GLI4 ZNF2 ZNF121 ZNF366 KLF7 ATF7 ZNF391 IKZF2 MLLT10 AMD1P1 RNU6-15P DNAJC1 GC10P021323 LUZP4P1
GH10I022912 Enhancer 0.9 ENCODE 9.9 -909.3 -909319 2.2 PKNOX1 ATF1 FEZF1 ZNF2 ZNF121 GLIS2 ZNF213 ZNF302 KLF7 TSHZ1 BMI1 DNAJC1 ENSG00000261671 ARMC3 LOC105376451
GH10I022042 Enhancer 0.7 ENCODE 11.4 -39.1 -39140 1 MEIS2 PKNOX1 BACH1 ZNF316 POLR2A FOS NFE2 MAFK NFE2L2 SMARCE1 DNAJC1 GC10M022132 GC10P021805
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAJC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJC1 gene promoter:

Genomic Locations for DNAJC1 Gene

Genomic Locations for DNAJC1 Gene
chr10:21,756,537-22,003,769
(GRCh38/hg38)
Size:
247,233 bases
Orientation:
Minus strand
chr10:22,045,466-22,292,698
(GRCh37/hg19)

Genomic View for DNAJC1 Gene

Genes around DNAJC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC1 Gene

Proteins for DNAJC1 Gene

  • Protein details for DNAJC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KC8-DNJC1_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 1
    Protein Accession:
    Q96KC8
    Secondary Accessions:
    • B0YIZ8
    • Q5VX89
    • Q9H6B8

    Protein attributes for DNAJC1 Gene

    Size:
    554 amino acids
    Molecular mass:
    63883 Da
    Quaternary structure:
    • Interacts (via J domain) with HSPA5. Interacts (via cytosolic domain) with ribosomes (By similarity). Interacts (via SANT 2 domain) with SERPINA3; the interaction delays the formation of the covalent inhibitory complex SERPINA3-chymotrypsin, but does not alter the catalytic activity of SERPINA3. Interacts (via SANT 2 domain) with ITIH4 (via C-terminus); the interaction protects ITIH4 against in vitro cleavage by kallikrein.

    Three dimensional structures from OCA and Proteopedia for DNAJC1 Gene

neXtProt entry for DNAJC1 Gene

Post-translational modifications for DNAJC1 Gene

No Post-translational modifications

Other Protein References for DNAJC1 Gene

No data available for DME Specific Peptides for DNAJC1 Gene

Domains & Families for DNAJC1 Gene

Gene Families for DNAJC1 Gene

Protein Domains for DNAJC1 Gene

Suggested Antigen Peptide Sequences for DNAJC1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC1: view

No data available for UniProtKB/Swiss-Prot for DNAJC1 Gene

Function for DNAJC1 Gene

Molecular function for DNAJC1 Gene

UniProtKB/Swiss-Prot Function:
May modulate protein synthesis.

Phenotypes From GWAS Catalog for DNAJC1 Gene

Gene Ontology (GO) - Molecular Function for DNAJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity TAS 14668352
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 14668352
GO:0051087 chaperone binding IEA --
genes like me logo Genes that share ontologies with DNAJC1: view
genes like me logo Genes that share phenotypes with DNAJC1: view

Animal Model Products

CRISPR Products

miRNA for DNAJC1 Gene

miRTarBase miRNAs that target DNAJC1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC1 Gene

Localization for DNAJC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Nucleus membrane; Single-pass type I membrane protein. Microsome membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 4
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with DNAJC1: view

Pathways & Interactions for DNAJC1 Gene

genes like me logo Genes that share pathways with DNAJC1: view

Pathways by source for DNAJC1 Gene

1 KEGG pathway for DNAJC1 Gene

Gene Ontology (GO) - Biological Process for DNAJC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0006457 protein folding IEA --
GO:0032781 positive regulation of ATPase activity IEA --
GO:0045861 negative regulation of proteolysis TAS 14668352
GO:0050708 regulation of protein secretion IDA 14668352
genes like me logo Genes that share ontologies with DNAJC1: view

No data available for SIGNOR curated interactions for DNAJC1 Gene

Drugs & Compounds for DNAJC1 Gene

No Compound Related Data Available

Transcripts for DNAJC1 Gene

Unigene Clusters for DNAJC1 Gene

DnaJ (Hsp40) homolog, subfamily C, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: -
SP2: -
SP3:

Relevant External Links for DNAJC1 Gene

GeneLoc Exon Structure for
DNAJC1
ECgene alternative splicing isoforms for
DNAJC1

Expression for DNAJC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJC1 Gene

This gene is overexpressed in Pancreas (18.8), Adrenal (7.5), and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJC1 Gene



Protein tissue co-expression partners for DNAJC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJC1 Gene:

DNAJC1

SOURCE GeneReport for Unigene cluster for DNAJC1 Gene:

Hs.499000

Evidence on tissue expression from TISSUES for DNAJC1 Gene

  • Liver(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DNAJC1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC1 Gene

Orthologs for DNAJC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC1 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia DNAJC1 33 34
  • 89.32 (n)
mouse
(Mus musculus)
Mammalia Dnajc1 33 16 34
  • 87.96 (n)
cow
(Bos Taurus)
Mammalia DNAJC1 33 34
  • 87.83 (n)
rat
(Rattus norvegicus)
Mammalia LOC100360412 33
  • 86.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC1 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAJC1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC1 33 34
  • 77.59 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC1 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc1 33
  • 71.11 (n)
Str.7061 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15036 33
zebrafish
(Danio rerio)
Actinopterygii dnajc1 33 34
  • 64.33 (n)
Dr.7515 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.932 33
fruit fly
(Drosophila melanogaster)
Insecta CG7556 34
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F54F2.9 33 34
  • 47.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZUO1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10456 34
  • 39 (a)
OneToOne
Species where no ortholog for DNAJC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC1 Gene

ENSEMBL:
Gene Tree for DNAJC1 (if available)
TreeFam:
Gene Tree for DNAJC1 (if available)

Paralogs for DNAJC1 Gene

Paralogs for DNAJC1 Gene

(12) SIMAP similar genes for DNAJC1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for DNAJC1 Gene

genes like me logo Genes that share paralogs with DNAJC1: view

Variants for DNAJC1 Gene

Sequence variations from dbSNP and Humsavar for DNAJC1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000010805 -- 21,792,706(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000015426 -- 21,922,308(-) A/T intron_variant
rs1000017117 -- 21,959,455(-) G/A intron_variant
rs1000038054 -- 21,850,271(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000046349 -- 21,922,085(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJC1 Gene

Variant ID Type Subtype PubMed ID
nsv831808 CNV gain 17160897
nsv550203 CNV loss 21841781
nsv507545 OTHER sequence alteration 20534489
nsv1048924 CNV gain 25217958
esv3622588 CNV loss 21293372
esv3622587 CNV loss 21293372
esv3578715 CNV loss 25503493
esv3362845 CNV insertion 20981092
esv2669848 CNV deletion 23128226
esv2665064 CNV deletion 23128226
esv2511732 CNV deletion 19546169

Variation tolerance for DNAJC1 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC1 Gene

Disorders for DNAJC1 Gene

Additional Disease Information for DNAJC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DNAJC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNAJC1 Gene

Publications for DNAJC1 Gene

  1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  2. BIP co-chaperone MTJ1/ERDJ1 interacts with inter-alpha-trypsin inhibitor heavy chain 4. (PMID: 16271702) Kroczynska B … Blond SY (Biochemical and biophysical research communications 2005) 3 22 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DNAJC1 Gene

Sources for DNAJC1 Gene

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