EDEM3
entrez
80267
canonical
uniprot
Q9BZQ6
canonical
ensembl
ENSG00000116406
resolver
ensp
ENSP00000318147
resolver
ensp
ENSP00000356482
resolver
ensp
ENSP00000509571
resolver
ensp
ENSP00000572902
resolver
enst
ENST00000367512
resolver
genesymbol
EDEM3
resolver
genesymbol_syn
C1orf22
resolver
hgnc
HGNC:16787
resolver
uniprot
A0A8J8YX80
resolver
uniprot
B2RCH6
resolver
uniprot
B7ZLZ2
resolver
uniprot
Q0VGM5
resolver
uniprot
Q5TEZ0
resolver
uniprot
Q7L2Y5
resolver
uniprot
Q9HCW1
resolver
uniprot
Q9UFV7
resolver
uniprot_entry
A0A8J8YX80_HUMAN
resolver
uniprot_entry
EDEM3_HUMAN
resolver
uniprot_sec
B2RCH6
resolver
uniprot_sec
B7ZLZ2
resolver
uniprot_sec
Q0VGM5
resolver
uniprot_sec
Q5TEZ0
resolver
uniprot_sec
Q7L2Y5
resolver
uniprot_sec
Q9HCW1
resolver
uniprot_sec
Q9UFV7
resolver
amino_acid_sequence
MSEAGGRGCGSPVPQRARWRLVAATAAFCLVSATSVWTAGAEPMSREEKQKLGNQVLEMFDHAYGNYMEHAYPADELMPLTCRGRVRGQEPSRGDVDDALGKFSLTLIDSLDTLVVLNKTKEFEDAVRKVLRDVNLDNDVVVSVFETNIRVLGGLLGGHSLAIMLKEKGEYMQWYNDELLQMAKQLGYKLLPAFNTTSGLPYPRINLKFGIRKPEARTGTETDTCTACAGTLILEFAALSRFTGATIFEEYARKALDFLWEKRQRSSNLVGVTINIHTGDWVRKDSGVGAGIDSYYEYLLKAYVLLGDDSFLERFNTHYDAIMRYISQPPLLLDVHIHKPMLNARTWMDALLAFFPGLQVLKGDIRPAIETHEMLYQVIKKHNFLPEAFTTDFRVHWAQHPLRPEFAESTYFLYKATGDPYYLEVGKTLIENLNKYARVPCGFAAMKDVRTGSHEDRMDSFFLAEMFKYLYLLFADKEDIIFDIEDYIFTTEAHLLPLWLSTTNQSISKKNTTSEYTELDDSNFDWTCPNTQILFPNDPLYAQSIREPLKNVVDKSCPRGIIRVEESFRSGAKPPLRARDFMATNPEHLEILKKMGVSLIHLKDGRVQLVQHAIQAASSIDAEDGLRFMQEMIELSSQQQKEQQLPPRAVQIVSHPFFGRVVLTAGPAQFGLDLSKHKETRGFVASSKPSNGCSELTNPEAVMGKIALIQRGQCMFAEKARNIQNAGAIGGIVIDDNEGSSSDTAPLFQMAGDGKDTDDIKIPMLFLFSKEGSIILDAIREYEEVEVLLSDKAKDRDPEMENEEQPSSENDSQNQSGEQISSSSQEVDLVDQESSEENSLNSHPESLSLADMDNAASISPSEQTSNPTENHETTNLNGECTDLDNQLQEQSETEEDSNPNVSWGKKVQPIDSILADWNEDIEAFEMMEKDEL
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2V (CDG2V) [MIM:619493]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features. {ECO:0000269|PubMed:34143952}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.113
uniprot
proteins
function
FUNCTION: Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans (PubMed:25092655). May also participate in mannose trimming from all glycoproteins and not just misfolded ones targeted to ERAD (PubMed:34143952). May have alpha 1,2-mannosidase activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:25092655, ECO:0000269|PubMed:34143952}.
uniprot
proteins
mass_dalton
104664
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000250|UniProtKB:P32906}.
uniprot
proteins
protein_family
Glycosyl hydrolase 47 family
uniprot
proteins
pubmed
11318611
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25092655
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34143952
uniprot
proteins
sequence_length
932
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
uniprot
proteins