Edem1 Gene Detail

Summary

• Symbol
  Edem1
• Name
  ER degradation enhancer, mannosidase alpha-like 1
• Synonyms
  A130059K23Rik, mKIAA0212

• Feature Type
  protein coding gene
• IDs
  MGI:2180139
  NCBI Gene: 192193
• Gene Overview
  MyGene.info: EDEM1
• Alliance
  gene page
• Transcription Start Sites
  20 TSS

Location &
Maps

• Sequence Map
  Chr6:108828641-108859356 bp, + strand
• From Ensembl annotation of GRCm38
  

  View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 6, 49.87 cM, cytoband E2
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  326 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2180139	protein coding gene	Chr6:108828558-108859356 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0031103	protein coding gene	Chr6:111117088-111163352 (+)
A/J	MGP_AJ_G0031072	protein coding gene	Chr6:106912001-106942987 (+)
AKR/J	MGP_AKRJ_G0031003	protein coding gene	Chr6:109791307-109825601 (+)
BALB/cJ	MGP_BALBcJ_G0031083	protein coding gene	Chr6:106836409-106867957 (+)
C3H/HeJ	MGP_C3HHeJ_G0030625	protein coding gene	Chr6:74533541-74567059 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031542	protein coding gene	Chr6:114036682-114068830 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028706	protein coding gene	Chr6:104195099-104225409 (+)
CAST/EiJ	MGP_CASTEiJ_G0030190	protein coding gene	Chr6:110176358-110208447 (+)
CBA/J	MGP_CBAJ_G0030769	protein coding gene	Chr6:118435487-118475864 (+)
DBA/2J	MGP_DBA2J_G0030922	protein coding gene	Chr6:106045175-106078194 (+)
FVB/NJ	MGP_FVBNJ_G0030876	protein coding gene	Chr6:105077027-105112872 (+)
LP/J	MGP_LPJ_G0031002	protein coding gene	Chr6:111174633-111210028 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030910	protein coding gene	Chr6:122637489-122678141 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031569	protein coding gene	Chr6:109738426-109770100 (+)
PWK/PhJ	MGP_PWKPhJ_G0029906	protein coding gene	Chr6:104981687-105013491 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029734	protein coding gene	Chr6:108522037-108553741 (+)
WSB/EiJ	MGP_WSBEiJ_G0030274	protein coding gene	Chr6:110267669-110302397 (+)

Homology

• Human Ortholog
  EDEM1, ER degradation enhancing alpha-mannosidase like protein 1

• Vertebrate Orthologs
  10

• Human Ortholog
  EDEM1, ER degradation enhancing alpha-mannosidase like protein 1
  Orthology source: HomoloGene, HGNC
• Synonyms
  EDEM
• Links
  HGNC:18967

  NCBI Gene ID: 9695

  neXtProt AC: NX_Q92611

  UniProt: Q92611

  
  
• Chr Location
  3p26.1; chr3:5187674-5219965 (+)  GRCh38.p7

---

• HomoloGene
  Vertebrate Homology Class 33836
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: EDEM1
• Protein SuperFamily
  mannosyl-oligosaccharide 1,2-alpha-mannosidase, 1A type
• Gene Tree
  Edem1
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  4 phenotype references
  

• All Mutations and Alleles
  4
• Spontaneous
  1
• Targeted
  3
• Genomic Mutations
  1 involving Edem1
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  5 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  20
• GO References
  8

• External Resources
  FuncBase

Expression

• Assay Results
  2
• Tissues
  1
• cDNA Data
  183
• Literature Summary
  11

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase edem1
  ZFIN edem1

Interactions

• Edem1 interacts with 376 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

Sequences &
Gene Models

• All Sequences
  68
• RefSeq
  5
• UniProt
  7
• CCDS
  CCDS20402.1
• UniGene
  21596

• Ensembl
  ENSMUSG00000030104 (Evidence)
• NCBI Gene
  192193

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000030104	Ensembl Gene Model | MGI Sequence Detail	30716	C57BL/6J
transcript	ENSMUST00000089162	Ensembl | MGI Sequence Detail	5817	Not Applicable
polypeptide	ENSMUSP00000086565	Ensembl | MGI Sequence Detail	652	Not Applicable

Protein
Information

• UniProt
  7 Sequences
• Protein Ontology
  PR:000006892 ER degradation-enhancing alpha-mannosidase-like protein 1
  (term hierarchy)
• EC
  3.2.1.-
• InterPro Domains
  IPR001382 Glycoside hydrolase family 47
  IPR036026 Seven-hairpin glycosidases
  IPR012341 Six-hairpin glycosidase-like superfamily

Molecular
Reagents

• All nucleic 184

  cDNA 183

  Primer pair 1

  
  

  Microarray probesets 7

Other
Accession IDs

MGI:2442942

References

• Summaries
  All 50

  Developmental Gene Expression 11

  Gene Ontology 8

  Phenotypes 4
• Earliest
  J:76183 Hosokawa N, et al., A novel ER alpha-mannosidase-like protein accelerates ER-associated degradation. EMBO Rep. 2001 May;2(5):415-22
• Latest
  J:265679 Wang B, et al., The COPII cargo adapter SEC24C is essential for neuronal homeostasis. J Clin Invest. 2018 Aug 1;128(8):3319-3332

TSS for Edem1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58099	Chr6:108828508-108828517 (+)	-128 bp
Tssr58100	Chr6:108828526-108828542 (+)	-107 bp
Tssr58101	Chr6:108828549-108828558 (+)	-87 bp
Tssr58102	Chr6:108828562-108828565 (+)	-77 bp
Tssr58103	Chr6:108828595-108828604 (+)	-41 bp
Tssr58104	Chr6:108828605-108828616 (+)	-30 bp
Tssr58105	Chr6:108828633-108828721 (+)	36 bp
Tssr58106	Chr6:108828734-108828744 (+)	98 bp
Tssr58107	Chr6:108829126-108829144 (+)	494 bp
Tssr58109	Chr6:108836092-108836101 (+)	7,456 bp
Tssr58110	Chr6:108836261-108836272 (+)	7,626 bp
Tssr58111	Chr6:108836304-108836314 (+)	7,668 bp
Tssr58112	Chr6:108836330-108836337 (+)	7,693 bp
Tssr58113	Chr6:108836345-108836356 (+)	7,710 bp
Tssr58114	Chr6:108836359-108836370 (+)	7,724 bp
Tssr58115	Chr6:108836392-108836407 (+)	7,759 bp
Tssr58116	Chr6:108836611-108836633 (+)	7,981 bp
Tssr58117	Chr6:108836642-108836652 (+)	8,006 bp
Tssr58118	Chr6:108836691-108836698 (+)	8,054 bp
Tssr58119	Chr6:108836726-108836739 (+)	8,092 bp