Aliases for ECPAS Gene

Aliases for ECPAS Gene

  • Ecm29 Proteasome Adaptor And Scaffold 2 3 5
  • KIAA0368 2 3 4
  • ECM29 2 3 4
  • Proteasome Adapter And Scaffold Protein ECM29 3 4
  • Proteasome-Associated Protein ECM29 Homolog 3 4
  • Ecm29 Proteasome Adapter And Scaffold 3 4
  • ECM29 Homolog, Proteasome Accessory Protein 3
  • ECM29 Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast Ecm29 3
  • FLJ22036 2
  • ECPAS 5

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. An important paralog of this gene is GCN1.

UniProtKB/Swiss-Prot Summary 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 proteolysis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity).

Gene Wiki entry for ECPAS Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECPAS Gene

Genomics for ECPAS Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH09J111481 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.2 1245 4.6 TBP ZBTB10 FEZF1 CEBPA SIX5 NR2C1 MNT IKZF1 SMAD5 IRF2 ECPAS HSALNG0073684 HSALNG0073686 PTGR1 ZNF483 RF00017-7815 RF00017-7813 OR2K2
GH09J111486 Enhancer 0.2 Ensembl 250.7 -1.5 -1456 0.4 ECPAS HSALNG0073684 HSALNG0073686 RF00017-7815 RF00017-7816 RF00017-7813 ZNF483
GH09J111602 Enhancer 0.8 Ensembl ENCODE 10.3 -119.6 -119639 3.2 CEBPA RXRA FOXA2 ZBTB33 JUND HNF4A FOXA1 NR2F6 REST MAX PTGR1 GNG10 ENSG00000224644 ECPAS HSALNG0073699 LRRC37A5P DNAJC25 DNAJC25-GNG10 lnc-PTGR1-1
GH09J111457 Enhancer 0.6 Ensembl ENCODE 12.6 +26.7 26744 3.2 CEBPB ZFP69B ZNF184 ZNF692 USF1 ECPAS GNG10 ENSG00000224644 PTGR1 ZNF483 SVEP1 RF00017-7812 HSALNG0073684 piR-35674-542 OR2K2
GH09J111515 Enhancer 0.6 Ensembl 11.3 -31.3 -31334 0.6 CEBPA HOMEZ THAP11 FOXA2 SAP130 TEAD3 DMAP1 TBP DRAP1 FOXM1 ECPAS ENSG00000224644 PTGR1 ZNF483 RF00017-7816 RF00017-7815 RF00017-7813
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECPAS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECPAS

Genomic Locations for ECPAS Gene

Latest Assembly
chr9:111,360,685-111,484,745
(GRCh38/hg38)
Size:
124,061 bases
Orientation:
Minus strand

Previous Assembly
chr9:114,122,965-114,246,663
(GRCh37/hg19 by Entrez Gene)
Size:
123,699 bases
Orientation:
Minus strand

chr9:114,122,972-114,247,025
(GRCh37/hg19 by Ensembl)
Size:
124,054 bases
Orientation:
Minus strand

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 adapter and scaffold protein ECM29
    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=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ECPAS Gene

Post-translational modifications for ECPAS Gene

  • Ubiquitination at Lys46, Lys414, Lys502, Lys567, Lys837, Lys1067, and Lys1099
  • Modification sites at PhosphoSitePlus

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ECPAS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ45314 fis, clone BRHIP3005142, highly similar to Proteasome-associated protein ECM29 homolog (B3KXF2_HUMAN)
  • Proteasome-associated protein ECM29 homolog (ECM29_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VYK3

UniProtKB/Swiss-Prot:

ECM29_HUMAN :
  • Belongs to the ECM29 family.
Family:
  • Belongs to the ECM29 family.
genes like me logo Genes that share domains with ECPAS: view

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 proteolysis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity).

Phenotypes From GWAS Catalog for ECPAS Gene

Gene Ontology (GO) - Molecular Function for ECPAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0060090 molecular adaptor activity IEA --
GO:0070628 proteasome binding IDA 15496406
genes like me logo Genes that share ontologies with ECPAS: view
genes like me logo Genes that share phenotypes with ECPAS: view

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 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 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 proteasome complex IEA --
GO:0005634 nucleus IEA,IDA 15496406
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with ECPAS: view

Pathways & Interactions for ECPAS Gene

PathCards logo

SuperPathways for ECPAS Gene

No Data Available

Gene Ontology (GO) - Biological Process for ECPAS Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for ECPAS Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for ECPAS Gene

GeneLoc Exon Structure for
ECPAS

Expression for ECPAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECPAS

Evidence on tissue expression from TISSUES for ECPAS Gene

  • Nervous system(4.9)
  • Muscle(2.7)
  • Liver(2.5)
  • Intestine(2.4)
  • Heart(2.2)
  • Kidney(2.1)
  • Spleen(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with ECPAS: view

Primer products for research

No data available for mRNA expression in normal human tissues , 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 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0368 30 31
  • 92.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA0368 30 31
  • 90.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA0368 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia AI314180 30 31
  • 89.91 (n)
OneToOne
Ecpas 17
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
Chicken
(Gallus gallus)
Aves KIAA0368 30 31
  • 78.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0368 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0368 30
  • 72.69 (n)
Str.14108 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.27912 30
Zebrafish
(Danio rerio)
Actinopterygii fbxo10 31
  • 73 (a)
OneToOne
LOC563777 30
  • 68.5 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9920 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011822 30
  • 46.3 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8858 30 31
  • 46.26 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea H04D03.3 31
  • 27 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM29 31 33
  • 23 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G26780 30
  • 44.36 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0137300 30
  • 45.64 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for ECPAS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ECPAS: view image

Paralogs for ECPAS Gene

Paralogs for ECPAS Gene

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

Variants for ECPAS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECPAS Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs16916091 - p.Thr472Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ECPAS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Human Gene Mutation Database (HGMD)
ECPAS
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
  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
  3. KIAA0368-deficiency affects disassembly of 26S proteasome under oxidative stress condition. (PMID: 26802743) Haratake K … Chiba T (Journal of biochemistry 2016) 2 3
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ECPAS Gene

Sources for ECPAS Gene