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ECPAS Ecm29 proteasome adaptor and scaffold [ Homo sapiens (human) ]

Gene ID: 23392, updated on 27-Nov-2024

Summary

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Official Symbol
ECPASprovided by HGNC
Official Full Name
Ecm29 proteasome adaptor and scaffoldprovided by HGNC
Primary source
HGNC:HGNC:29020
See related
Ensembl:ENSG00000136813 MIM:616694; AllianceGenome:HGNC:29020
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ECM29; KIAA0368
Summary
Enables proteasome binding activity. Involved in ERAD pathway. Located in several cellular components, including centrosome; cytoplasmic vesicle; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 17.3), fat (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

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See ECPAS in Genome Data Viewer
Location:
9q31.3
Exon count:
53
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111360685..111484383, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (123532059..123655812, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114122965..114246663, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376219 Neighboring gene olfactory receptor family 2 subfamily K member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114161623-114162149 Neighboring gene RNA, 5S ribosomal pseudogene 294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:114233029-114233528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:114288123-114288622 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:114292004-114292628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105867 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105871 Neighboring gene zinc finger protein 483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105889 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105891 Neighboring gene prostaglandin reductase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114361778-114362350 Neighboring gene leucine rich repeat containing 37 member A5, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. KIAA0368-deficiency affects disassembly of 26S proteasome under oxidative stress condition. Haratake K, et al. J Biochem, 2016 Jun. PMID 26802743, Free PMC Article
  2. Depletion of the 26S proteasome adaptor Ecm29 increases Toll-like receptor 3 signaling. Gorbea C, et al. Sci Signal, 2013 Oct 1. PMID 24084648
  3. Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles. Gorbea C, et al. J Biol Chem, 2004 Dec 24. PMID 15496406
  4. Ubiquitinated proteins promote the association of proteasomes with the deubiquitinating enzyme Usp14 and the ubiquitin ligase Ube3c. Kuo CL, et al. Proc Natl Acad Sci U S A, 2017 Apr 25. PMID 28396413, Free PMC Article
  5. Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients. Zhang YK, et al. Nat Commun, 2017 Sep 6. PMID 28878358, Free PMC Article

See all (119) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest that the adapter protein ECM29 is the main proteasome-interacting protein responsible for oxidative stress-induced proteasome disassembly/remodeling; ECM29 appears to intrude on interaction between the 20S core particle and 19S regulatory particle in 26S proteasome, disrupting proteasome structure in response to oxidative stress.
    Title: The proteasome-interacting Ecm29 protein disassembles the 26S proteasome in response to oxidative stress.
  2. Ecm29 is involved in the dissociation process of 26S proteasome, providing clue to analyse the mechanism of proteasomal degradation under various stress condition.
    Title: KIAA0368-deficiency affects disassembly of 26S proteasome under oxidative stress condition.
  3. The absence of Ecm29 enhanced TLR3 signaling, which was characterized by the increased abundance of the adaptor protein and E3 ubiquitin ligase tumor necrosis factor receptor-associated factor 3
    Title: Depletion of the 26S proteasome adaptor Ecm29 increases Toll-like receptor 3 signaling.
  4. Ecm29 serves as an adaptor for coupling 26 S proteasomes to specific cellular compartments.
    Title: A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Ecm29 protein serves to couple the 26 S proteasome to secretory compartments engaged in quality control and to other sites of enhanced proteolysis
    Title: Characterization of mammalian Ecm29, a 26 S proteasome-associated protein that localizes to the nucleus and membrane vesicles.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22036, KIAA1962

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables proteasome binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ERAD pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in proteasome assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in COPII-coated ER to Golgi transport vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endocytic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment IEA
Inferred from Electronic Annotation
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in multivesicular body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of proteasome complex IEA
Inferred from Electronic Annotation
more info
  
NOT located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
proteasome adapter and scaffold protein ECM29
Names
ECM29 homolog, proteasome accessory protein
ecm29 proteasome adapter and scaffold
homolog of yeast Ecm29
proteasome-associated protein ECM29 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001363756.2 → NP_001350685.1  proteasome adapter and scaffold protein ECM29 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL159168, AL354661
    Consensus CDS
    CCDS87673.1
    UniProtKB/TrEMBL
    A0AAA9X0G7, J3KN16
    Related
    ENSP00000339889.5, ENST00000338205.9
    Conserved Domains (2) summary
    sd00044
    Location:1078 → 1101
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:10 → 516
    Ecm29; Proteasome stabilizer

  2. NM_001364929.1 → NP_001351858.1  proteasome adapter and scaffold protein ECM29 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL159168, AL354661
    Consensus CDS
    CCDS94456.1
    UniProtKB/TrEMBL
    J3KN16
    Related
    ENSP00000507419.1, ENST00000684092.1
    Conserved Domains (2) summary
    sd00044
    Location:1078 → 1101
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:10 → 516
    Ecm29; Proteasome stabilizer

  3. NM_001364930.1 → NP_001351859.1  proteasome adapter and scaffold protein ECM29 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL159168, AL354661
    Consensus CDS
    CCDS94456.1
    UniProtKB/TrEMBL
    J3KN16
    Conserved Domains (2) summary
    sd00044
    Location:1078 → 1101
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:10 → 516
    Ecm29; Proteasome stabilizer

  4. NM_001364931.1 → NP_001351860.1  proteasome adapter and scaffold protein ECM29 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL159168, AL354661
    UniProtKB/Swiss-Prot
    A0A804HJA4, B3KXF2, O15074, Q5VYK3, Q8WU82
    UniProtKB/TrEMBL
    J3KN16
    Conserved Domains (2) summary
    sd00044
    Location:1084 → 1107
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:16 → 522
    Ecm29; Proteasome stabilizer

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    111360685..111484383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423107.1 → XP_047279063.1  proteasome adapter and scaffold protein ECM29 isoform X4

  2. XM_005251853.4 → XP_005251910.1  proteasome adapter and scaffold protein ECM29 isoform X1

    See identical proteins and their annotated locations for XP_005251910.1

    UniProtKB/TrEMBL
    J3KN16
    Conserved Domains (2) summary
    sd00044
    Location:1078 → 1101
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:10 → 516
    Ecm29; Proteasome stabilizer

  3. XM_047423105.1 → XP_047279061.1  proteasome adapter and scaffold protein ECM29 isoform X1

  4. XM_047423109.1 → XP_047279065.1  proteasome adapter and scaffold protein ECM29 isoform X6

  5. XM_047423106.1 → XP_047279062.1  proteasome adapter and scaffold protein ECM29 isoform X3

  6. XM_047423108.1 → XP_047279064.1  proteasome adapter and scaffold protein ECM29 isoform X5

  7. XM_011518422.4 → XP_011516724.1  proteasome adapter and scaffold protein ECM29 isoform X2

    UniProtKB/TrEMBL
    J3KN16
    Conserved Domains (2) summary
    sd00044
    Location:1084 → 1107
    HEAT; HEAT repeat [structural motif]
    pfam13001
    Location:16 → 522
    Ecm29; Proteasome stabilizer

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    123532059..123655812 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362545.1 → XP_054218520.1  proteasome adapter and scaffold protein ECM29 isoform X4

  2. XM_054362542.1 → XP_054218517.1  proteasome adapter and scaffold protein ECM29 isoform X1

  3. XM_054362547.1 → XP_054218522.1  proteasome adapter and scaffold protein ECM29 isoform X6

  4. XM_054362544.1 → XP_054218519.1  proteasome adapter and scaffold protein ECM29 isoform X3

  5. XM_054362546.1 → XP_054218521.1  proteasome adapter and scaffold protein ECM29 isoform X5

  6. XM_054362543.1 → XP_054218518.1  proteasome adapter and scaffold protein ECM29 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001080398.1: Suppressed sequence

    Description
    NM_001080398.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VYK3.2 GenPept UniProtKB/Swiss-Prot:Q5VYK3

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