ENSG00000138246


Homo sapiens

Features
Gene ID: ENSG00000138246
  
Biological name :DNAJC13
  
Synonyms : DNAJC13 / DnaJ heat shock protein family (Hsp40) member C13 / O75165
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q22.1
Gene start: 132417526
Gene end: 132539032
  
Corresponding Affymetrix probe sets: 1560020_at (Human Genome U133 Plus 2.0 Array)   1564627_at (Human Genome U133 Plus 2.0 Array)   212467_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000260818
Ensembl peptide - ENSP00000421735
Ensembl peptide - ENSP00000426240
NCBI entrez gene - 23317     See in Manteia.
OMIM - 614334
RefSeq - XM_017006036
RefSeq - NM_001329126
RefSeq - NM_015268
RefSeq - XM_005247245
RefSeq Peptide - NP_001316055
RefSeq Peptide - NP_056083
swissprot - H0YA63
swissprot - O75165
swissprot - H0Y8Q2
Ensembl - ENSG00000138246
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 DNAJC13ENSGALG00000035068Gallus gallus
 Dnajc13ENSMUSG00000032560Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001623  DnaJ domain
 IPR011989  Armadillo-like helical
 IPR011993  PH-like domain superfamily
 IPR016024  Armadillo-type fold
 IPR025640  Domain of unknown function DUF4339
 IPR035445  GYF-like domain superfamily
 IPR036869  Chaperone J-domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001649 osteoblast differentiation HDA
 biological_processGO:0006898 receptor-mediated endocytosis IBA
 biological_processGO:0007032 endosome organization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:1902954 regulation of early endosome to recycling endosome transport IMP
 biological_processGO:2000641 regulation of early endosome to late endosome transport IMP
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0035577 azurophil granule membrane TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071203 WASH complex IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002172 Postural instability 
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 HP:0003677 Slow progression 
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 HP:0100315 Lewy bodies 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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