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Aliases for DNAJC13 Gene

Aliases for DNAJC13 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C13 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 13 2 3
  • Required For Receptor-Mediated Endocytosis 8 3 4
  • RME8 3 4
  • DnaJ Domain-Containing Protein RME-8 3
  • DnaJ Homolog Subfamily C Member 13 3
  • KIAA0678 4
  • PARK21 3
  • RME-8 4

External Ids for DNAJC13 Gene

Previous GeneCards Identifiers for DNAJC13 Gene

  • GC03P133442
  • GC03P133665
  • GC03P132136
  • GC03P129515

Summaries for DNAJC13 Gene

Entrez Gene Summary for DNAJC13 Gene

  • This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

GeneCards Summary for DNAJC13 Gene

DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13) is a Protein Coding gene. Diseases associated with DNAJC13 include Hereditary Late-Onset Parkinson Disease and Parkinson Disease 21. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for DNAJC13 Gene

  • Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499).

Gene Wiki entry for DNAJC13 Gene

Additional gene information for DNAJC13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC13 Gene

Genomics for DNAJC13 Gene

GeneHancer (GH) Regulatory Elements for DNAJC13 Gene

Promoters and enhancers for DNAJC13 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
GH03I132415 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 553.5 +0.3 268 4.1 PKNOX1 ATF1 ARID4B SIN3A DMAP1 YY1 ETS1 GLIS2 ZNF207 ZNF143 DNAJC13 NPHP3 ACKR4
GH03I131501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 -914.9 -914911 2.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MRPL3 LOC105374114 PIK3R4 ENSG00000261167 DNAJC13
GH03I132657 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.8 +242.4 242400 4.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ACAD11 UBA5 NPHP3 DNAJC13 NPHP3-ACAD11
GH03I132540 Enhancer 1.1 FANTOM5 Ensembl ENCODE 7.5 +125.2 125187 3.5 SAP130 JUN ZBTB40 RARA FOSL1 FOSL2 FOS IKZF2 HOMEZ TCF7L2 UBA5 ACKR4 NPHP3 DNAJC13
GH03I132549 Enhancer 0.9 Ensembl ENCODE dbSUPER 7.6 +133.0 132975 1.4 ZNF766 IKZF1 IKZF2 RUNX3 ZNF395 NPHP3 DNAJC13 ACKR4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAJC13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJC13 gene promoter:

Genomic Locations for DNAJC13 Gene

Genomic Locations for DNAJC13 Gene
chr3:132,417,526-132,539,032
(GRCh38/hg38)
Size:
121,507 bases
Orientation:
Plus strand
chr3:132,136,370-132,257,876
(GRCh37/hg19)

Genomic View for DNAJC13 Gene

Genes around DNAJC13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC13 Gene

Proteins for DNAJC13 Gene

  • Protein details for DNAJC13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75165-DJC13_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 13
    Protein Accession:
    O75165
    Secondary Accessions:
    • Q3L0T1
    • Q6PI82
    • Q6UJ77
    • Q6ZSW1
    • Q6ZUT5
    • Q86XG3
    • Q96DC1
    • Q9BWK9

    Protein attributes for DNAJC13 Gene

    Size:
    2243 amino acids
    Molecular mass:
    254415 Da
    Quaternary structure:
    • Interacts with WASHC2C; mediates the association with the WASH complex (PubMed:24643499).
    SequenceCaution:
    • Sequence=AAH43583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAA31653.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC86133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86835.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86835.1; Type=Erroneous termination; Positions=1651; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for DNAJC13 Gene

Post-translational modifications for DNAJC13 Gene

  • Ubiquitination at posLast=848848 and Lys1359

Other Protein References for DNAJC13 Gene

No data available for DME Specific Peptides for DNAJC13 Gene

Domains & Families for DNAJC13 Gene

Gene Families for DNAJC13 Gene

Suggested Antigen Peptide Sequences for DNAJC13 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC13: view

No data available for UniProtKB/Swiss-Prot for DNAJC13 Gene

Function for DNAJC13 Gene

Molecular function for DNAJC13 Gene

UniProtKB/Swiss-Prot Function:
Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499).

Phenotypes From GWAS Catalog for DNAJC13 Gene

Gene Ontology (GO) - Molecular Function for DNAJC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24643499
genes like me logo Genes that share ontologies with DNAJC13: view
genes like me logo Genes that share phenotypes with DNAJC13: view

Human Phenotype Ontology for DNAJC13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DNAJC13 Gene

miRTarBase miRNAs that target DNAJC13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC13 Gene

Localization for DNAJC13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC13 Gene

Early endosome. Early endosome membrane; Peripheral membrane protein. Endosome membrane.

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 DNAJC13 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
endosome 5
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA,IDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with DNAJC13: view

Pathways & Interactions for DNAJC13 Gene

genes like me logo Genes that share pathways with DNAJC13: view

Pathways by source for DNAJC13 Gene

3 Reactome pathways for DNAJC13 Gene

Gene Ontology (GO) - Biological Process for DNAJC13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006810 transport IEA --
GO:0006898 receptor-mediated endocytosis IBA --
GO:0007032 endosome organization IMP 24643499
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DNAJC13: view

No data available for SIGNOR curated interactions for DNAJC13 Gene

Drugs & Compounds for DNAJC13 Gene

No Compound Related Data Available

Transcripts for DNAJC13 Gene

Unigene Clusters for DNAJC13 Gene

DnaJ (Hsp40) homolog, subfamily C, member 13:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC13 Gene

No ASD Table

Relevant External Links for DNAJC13 Gene

GeneLoc Exon Structure for
DNAJC13
ECgene alternative splicing isoforms for
DNAJC13

Expression for DNAJC13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJC13 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJC13 Gene



Protein tissue co-expression partners for DNAJC13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJC13 Gene:

DNAJC13

SOURCE GeneReport for Unigene cluster for DNAJC13 Gene:

Hs.12707

Evidence on tissue expression from TISSUES for DNAJC13 Gene

  • Nervous system(4.6)
  • Adrenal gland(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • mouth
  • olfactory bulb
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DNAJC13: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DNAJC13 Gene

Orthologs for DNAJC13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNAJC13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC13 33 34
  • 99.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DNAJC13 33 34
  • 94.38 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJC13 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJC13 33 34
  • 93.65 (n)
mouse
(Mus musculus)
Mammalia Dnajc13 33 16 34
  • 89.63 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc13 33
  • 89.29 (n)
chicken
(Gallus gallus)
Aves DNAJC13 33 34
  • 82.68 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC13 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc13 33
  • 77.91 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAJC13 (1 of 2) 34
  • 86 (a)
OneToMany
DNAJC13 (2 of 2) 34
  • 72 (a)
OneToMany
Dr.14056 33
fruit fly
(Drosophila melanogaster)
Insecta Rme-8 33 34
  • 52.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005771 33
  • 52.42 (n)
worm
(Caenorhabditis elegans)
Secernentea rme-8 33 34
  • 52.3 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GRV2 33
  • 45.87 (n)
rice
(Oryza sativa)
Liliopsida Os10g0575200 33
  • 46.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10682 34
  • 59 (a)
OneToOne
Species where no ortholog for DNAJC13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC13 Gene

ENSEMBL:
Gene Tree for DNAJC13 (if available)
TreeFam:
Gene Tree for DNAJC13 (if available)

Paralogs for DNAJC13 Gene

No data available for Paralogs for DNAJC13 Gene

Variants for DNAJC13 Gene

Sequence variations from dbSNP and Humsavar for DNAJC13 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs145242123 Parkinson disease (PARK) [MIM:168600] 132,522,838(+) C/A/T coding_sequence_variant, missense_variant
rs146930051 Parkinson disease (PARK) [MIM:168600] 132,467,269(+) G/T coding_sequence_variant, missense_variant
rs387907571 pathogenic, uncertain-significance, Parkinson disease, late-onset, Essential tremor, Parkinson disease 21, Parkinson disease (PARK) [MIM:168600] 132,477,995(+) A/G coding_sequence_variant, missense_variant
rs766013346 Parkinson disease (PARK) [MIM:168600] 132,492,587(+) G/A/T coding_sequence_variant, missense_variant
rs745809733 uncertain-significance, not provided 132,456,361(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJC13 Gene

Variant ID Type Subtype PubMed ID
nsv829728 CNV gain 17160897
nsv522333 CNV loss 19592680
nsv4013 CNV deletion 18451855
nsv1140173 CNV insertion 24896259

Variation tolerance for DNAJC13 Gene

Residual Variation Intolerance Score: 1.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.70; 73.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC13 Gene

Human Gene Mutation Database (HGMD)
DNAJC13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC13 Gene

Disorders for DNAJC13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNAJC13 Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hereditary late-onset parkinson disease
  • autosomal dominant late-onset parkinson disease
parkinson disease 21
  • park21
senior-løken syndrome
  • senior-loken syndrome
neurodegeneration with brain iron accumulation 4
  • nbia4
chronic tic disorder
  • chronic motor or vocal tic disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DJC13_HUMAN
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:24218364, ECO:0000269 PubMed:25393719}. Note=The gene represented in this entry may be involved in disease pathogenesis. Genetic variants in DNAJC13 (PubMed:24218364, PubMed:25393719) and TMEM230 (PubMed:27270108) have been found in the same large multigenerational family with adult-onset Parkinson disease. The pathological role of each gene and therefore the exact molecular basis of the disease is unclear. {ECO:0000305 PubMed:27270108}.

Additional Disease Information for DNAJC13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNAJC13: view

No data available for Genatlas for DNAJC13 Gene

Publications for DNAJC13 Gene

  1. DNAJC13 genetic variants in parkinsonism. (PMID: 25393719) Gustavsson EK … Farrer MJ (Movement disorders : official journal of the Movement Disorder Society 2015) 3 4 58
  2. DNAJC13 mutations in Parkinson disease. (PMID: 24218364) Vilariño-Güell C … Farrer MJ (Human molecular genetics 2014) 3 4 58
  3. RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation. (PMID: 24643499) Freeman CL … Seaman MN (Journal of cell science 2014) 3 4 58
  4. RME-8 regulates trafficking of the epidermal growth factor receptor. (PMID: 18307993) Girard M … McPherson PS (FEBS letters 2008) 3 4 58
  5. Human RME-8 is involved in membrane trafficking through early endosomes. (PMID: 18256511) Fujibayashi A … Sekiguchi K (Cell structure and function 2008) 3 4 58

Products for DNAJC13 Gene

Sources for DNAJC13 Gene

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