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

Gene ID: 9695, updated on 29-Oct-2022

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; AllianceGenome:HGNC:18967
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
Summary
Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in mannose trimming involved in glycoprotein ERAD pathway; positive regulation of retrograde protein transport, ER to cytosol; and protein targeting to ER. Located in aggresome and endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 22.7), lymph node (RPKM 21.0) and 25 other tissues See more
Orthologs
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Genomic context

See EDEM1 in Genome Data Viewer
Location:
3p26.1
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (5187707..5219958)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (5181638..5213889)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (5229392..5261643)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906212 Neighboring gene Sharpr-MPRA regulatory region 5688 Neighboring gene ADP ribosylation factor like GTPase 8B Neighboring gene Sharpr-MPRA regulatory region 5493 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51559, FLJ51560, KIAA0212

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in aggresome IDA
Inferred from Direct Assay
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum quality control compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum quality control compartment TAS
Traceable Author Statement
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_011532574.1
XP_047305220.1
XP_047305221.1
XP_047305222.1
XP_047305223.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    B4DXP3, 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    5187707..5219958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534272.3XP_011532574.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X3

    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_047449264.1XP_047305220.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X1

    Related
    ENST00000465369.5
  3. XM_047449265.1XP_047305221.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X2

  4. XM_047449266.1XP_047305222.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X4

  5. XM_047449267.1XP_047305223.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X4

RNA

  1. XR_007095771.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    5181638..5213889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)