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Aliases for ECPAS Gene

Aliases for ECPAS Gene

  • Ecm29 Proteasome Adaptor And Scaffold 2
  • KIAA0368 2 3 3 4 5
  • ECM29 3 4
  • ECM29 Homolog, Proteasome Accessory Protein 3
  • Proteasome-Associated Protein ECM29 Homolog 3
  • ECM29 Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast Ecm29 3

External Ids for ECPAS Gene

Previous HGNC Symbols for ECPAS Gene

  • KIAA0368

Summaries for ECPAS Gene

GeneCards Summary for ECPAS Gene

ECPAS (Ecm29 Proteasome Adaptor And Scaffold) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ECPAS Gene

  • Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis.

Gene Wiki entry for ECPAS Gene

Additional gene information for ECPAS Gene

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

Genomics for ECPAS Gene

GeneHancer (GH) Regulatory Elements for ECPAS Gene

Promoters and enhancers for ECPAS 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
GH09I111481 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1391 3.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ECPAS PTGR1 ZNF483 RNA5SP294
GH09I111602 Enhancer 0.7 ENCODE 10.3 -119.6 -119639 3.2 FOXA2 MAX CEBPG YY1 NR2F6 GATAD2A RXRA REST PPARG FOXA1 PTGR1 GNG10 ENSG00000224644 ECPAS PIR33411 LRRC37A5P
GH09I111457 Enhancer 0.5 ENCODE 12.6 +26.3 26259 1.3 ZFP69B USF1 ZNF692 ZNF184 CEBPB ECPAS GNG10 ENSG00000224644 ZNF483 RNA5SP294
GH09I111527 Enhancer 0.5 ENCODE 10.7 -44.3 -44297 3.3 SP1 POLR2A MAX POU5F1 SIN3A CEBPG ATF2 ENSG00000224644 ECPAS ZNF483 PTGR1
GH09I111600 Enhancer 1.3 FANTOM5 Ensembl ENCODE 2.1 -116.7 -116700 1.1 HDAC1 PKNOX1 FOXA2 NCOA2 FOS PHF21A SP1 MAFF SMARCA4 STAT3 PTGR1 GNG10 ZNF483 ECPAS PIR33411
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECPAS on UCSC Golden Path with GeneCards custom track

Genomic Locations for ECPAS Gene

Genomic Locations for ECPAS Gene
chr9:111,360,692-111,484,745
(GRCh38/hg38)
Size:
124,054 bases
Orientation:
Minus strand
chr9:114,122,972-114,247,025
(GRCh37/hg19)

Genomic View for ECPAS Gene

Genes around ECPAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ECPAS Gene

Proteins for ECPAS Gene

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

    Protein Symbol:
    Q5VYK3-ECM29_HUMAN
    Recommended name:
    Proteasome-associated protein ECM29 homolog
    Protein Accession:
    Q5VYK3
    Secondary Accessions:
    • O15074
    • Q8WU82

    Protein attributes for ECPAS Gene

    Size:
    1845 amino acids
    Molecular mass:
    204291 Da
    Quaternary structure:
    • Non-stoichiometric component of the proteasome; associates with the 26S proteasome. Interacts (via N-terminus) with VPS11, VPS26A, VPS36, RAB11FIP4 and RABEP1. Interacts (via C-terminus) with DCTN1, DCTN2, KIF5B, MYH7, MYH10, MYO10 and ARF6.
    SequenceCaution:
    • Sequence=AAH21127.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH73240.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73465.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ECPAS Gene

Post-translational modifications for ECPAS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ECPAS Gene

Domains & Families for ECPAS Gene

Gene Families for ECPAS Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ECPAS Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ECPAS Gene

Molecular function for ECPAS Gene

UniProtKB/Swiss-Prot Function:
Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis.

Phenotypes From GWAS Catalog for ECPAS Gene

Gene Ontology (GO) - Molecular Function for ECPAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005319 lipid transporter activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0032947 protein complex scaffold activity IEA --
genes like me logo Genes that share ontologies with ECPAS: view
genes like me logo Genes that share phenotypes with ECPAS: view

Animal Model Products

miRNA for ECPAS Gene

miRTarBase miRNAs that target ECPAS

Inhibitory RNA Products

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

Localization for ECPAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECPAS Gene

Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment. Endosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Endosome, multivesicular body. Cytoplasmic vesicle.

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 ECPAS gene
Compartment Confidence
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
endosome 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ECPAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 colocalizes_with proteasome complex IDA 15496406
GO:0005634 nucleus IDA 15496406
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 15496406
genes like me logo Genes that share ontologies with ECPAS: view

Pathways & Interactions for ECPAS Gene

SuperPathways for ECPAS Gene

No Data Available

Gene Ontology (GO) - Biological Process for ECPAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IMP 15496406
GO:0043248 proteasome assembly IEA --
genes like me logo Genes that share ontologies with ECPAS: view

No data available for Pathways by source and SIGNOR curated interactions for ECPAS Gene

Drugs & Compounds for ECPAS Gene

No Compound Related Data Available

Transcripts for ECPAS Gene

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for ECPAS Gene

GeneLoc Exon Structure for
ECPAS
ECgene alternative splicing isoforms for
ECPAS

Expression for ECPAS Gene

NURSA nuclear receptor signaling pathways regulating expression of ECPAS Gene:

ECPAS

Evidence on tissue expression from TISSUES for ECPAS Gene

  • Nervous system(4.9)
  • Muscle(2.3)
  • Intestine(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECPAS Gene

Orthologs for ECPAS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ECPAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA0368 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0368 34 33
  • 92.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA0368 34 33
  • 90.55 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KIAA0368 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AI314180 16 34 33
  • 89.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIAA0368 34 33
  • 78.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0368 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0368 33
  • 72.69 (n)
Str.14108 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.27912 33
zebrafish
(Danio rerio)
Actinopterygii fbxo10 34
  • 73 (a)
OneToOne
LOC563777 33
  • 68.5 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9920 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011822 33
  • 46.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8858 33 34
  • 46.26 (n)
worm
(Caenorhabditis elegans)
Secernentea H04D03.3 34
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM29 34 36
  • 23 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G26780 33
  • 44.36 (n)
rice
(Oryza sativa)
Liliopsida Os11g0137300 33
  • 45.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToOne
Species where no ortholog for ECPAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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 ECPAS Gene

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

Paralogs for ECPAS Gene

No data available for Paralogs for ECPAS Gene

Variants for ECPAS Gene

Sequence variations from dbSNP and Humsavar for ECPAS Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000001333 -- 111,369,593(-) T/C intron_variant
rs1000028108 -- 111,396,228(-) T/C intron_variant
rs1000036107 -- 111,387,011(-) G/C intron_variant
rs1000065154 -- 111,459,212(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000091566 -- 111,439,323(-) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv12851n54 CNV gain 21841781
dgv4125n106 CNV deletion 24896259
esv2057050 CNV deletion 18987734
esv2492334 CNV deletion 19546169
esv2659400 CNV deletion 23128226
esv2666027 CNV deletion 23128226
esv2738934 CNV deletion 23290073
esv2738935 CNV deletion 23290073
esv29361 CNV loss 19812545
esv3545318 CNV deletion 23714750
esv3621488 CNV loss 21293372
nsv1077174 CNV deletion 25765185
nsv416941 CNV deletion 16902084
nsv436620 CNV deletion 17901297
nsv473462 CNV novel sequence insertion 20440878
nsv525736 CNV loss 19592680
nsv615188 CNV loss 21841781
nsv615190 CNV gain+loss 21841781
nsv825039 CNV gain 20364138
nsv825040 CNV gain 20364138

Variation tolerance for ECPAS Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.39; 95.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ECPAS Gene

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

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

Disorders for ECPAS Gene

Additional Disease Information for ECPAS

No disorders were found for ECPAS Gene.

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

Publications for ECPAS Gene

  1. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. (PMID: 20682791) Gorbea C … Rechsteiner M (The Journal of biological chemistry 2010) 2 3 4 58
  2. Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles. (PMID: 15496406) Gorbea C … Rechsteiner M (The Journal of biological chemistry 2004) 2 3 4 58
  3. KIAA0368-deficiency affects disassembly of 26S proteasome under oxidative stress condition. (PMID: 26802743) Haratake K … Chiba T (Journal of biochemistry 2016) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58

Products for ECPAS Gene

Sources for ECPAS Gene

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