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

Gene ID: 9695, updated on 21-Dec-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
109.20191205 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 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

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 Updated Annotation Release 109.20191205

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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