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    EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 [ Homo sapiens (human) ]

    Gene ID: 9695, updated on 17-Jun-2019

    Summary

    Official Symbol
    EDEM1provided by HGNC
    Official Full Name
    ER degradation enhancing alpha-mannosidase like protein 1provided by HGNC
    Primary source
    HGNC:HGNC:18967
    See related
    Ensembl:ENSG00000134109 MIM:607673
    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
    EDEM
    Expression
    Ubiquitous expression in bone marrow (RPKM 22.7), lymph node (RPKM 21.0) and 25 other tissues See more
    Orthologs

    Genomic context

    See EDEM1 in Genome Data Viewer
    Location:
    3p26.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (5187707..5219963)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (5229359..5261650)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene UBTF like 8 (pseudogene) Neighboring gene ADP ribosylation factor like GTPase 8B Neighboring gene RNA, 7SL, cytoplasmic 553, pseudogene Neighboring gene microRNA 4790

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Calnexin/calreticulin cycle, organism-specific biosystem (from REACTOME)
      Calnexin/calreticulin cycle, organism-specific biosystemThe unfolded protein is recognized by a chaperon protein (calnexin or calreticulin) and the folding process starts. The binding of these protein requires a mono-glucosylated glycan (Caramelo JJ and P...
    • ER Quality Control Compartment (ERQC), organism-specific biosystem (from REACTOME)
      ER Quality Control Compartment (ERQC), organism-specific biosystemProteins that are released from the CNX or CRT complex with folding defects accumulate in a compartment of the ER called ERQC (Kamhi-Nesher et al. 2001). Here, the enzymes UGGG1 or UGGG2 are able to ...
    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystem (from REACTOME)
      N-glycan trimming in the ER and Calnexin/Calreticulin cycle, organism-specific biosystemAfter being synthesized in the ER membrane the 14-sugars lipid-linked oligosaccharide is co-translationally transferred to an unfolded protein, as described in the previous steps. After this point th...
    • Photodynamic therapy-induced unfolded protein response, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced unfolded protein response, organism-specific biosystemPhotodynamic therapy may induce a proteotoxic stress response mediated by transcription factors heat shock factor 1 (HSF1), X-box binding protein 1 (XBP1), activating transcription factor (ATF) 6, an...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ51559, FLJ51560, KIAA0212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    NOT mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    misfolded protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    aggresome IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum quality control compartment TAS
    Traceable Author Statement
    more info
     
    integral component of endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ER degradation-enhancing alpha-mannosidase-like protein 1
    Names
    ER degradation enhancer, mannosidase alpha-like 1
    ER degradation-enhancing alpha-mannosidase-like 1
    NP_055489.1
    XP_011532573.1
    XP_011532574.1

    NCBI Reference Sequences (RefSeq)

    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_014674.3NP_055489.1  ER degradation-enhancing alpha-mannosidase-like protein 1

      See identical proteins and their annotated locations for NP_055489.1

      Status: VALIDATED

      Source sequence(s)
      AC026202, AK292643, BC019088, CN364698
      Consensus CDS
      CCDS33686.1
      UniProtKB/Swiss-Prot
      Q92611
      UniProtKB/TrEMBL
      A0A024R2D5
      Related
      ENSP00000256497.4, ENST00000256497.9
      Conserved Domains (1) summary
      pfam01532
      Location:137582
      Glyco_hydro_47; Glycosyl hydrolase family 47

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      5187707..5219963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534272.2XP_011532574.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011532574.1

      Conserved Domains (1) summary
      pfam01532
      Location:16422
      Glyco_hydro_47; Glycosyl hydrolase family 47
    2. XM_011534271.3XP_011532573.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011532573.1

      Conserved Domains (1) summary
      pfam01532
      Location:16422
      Glyco_hydro_47; Glycosyl hydrolase family 47

    RNA

    1. XR_001740383.1 RNA Sequence

    2. XR_001740384.1 RNA Sequence

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