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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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