C18orf32
entrez
497661
canonical
uniprot
Q8TCD1
canonical
ensembl
ENSG00000177576
resolver
ensp
ENSP00000323199
resolver
ensp
ENSP00000462538
resolver
ensp
ENSP00000480941
resolver
ensp
ENSP00000521803
resolver
ensp
ENSP00000521804
resolver
ensp
ENSP00000521805
resolver
ensp
ENSP00000521806
resolver
ensp
ENSP00000521807
resolver
ensp
ENSP00000521808
resolver
ensp
ENSP00000521809
resolver
ensp
ENSP00000588740
resolver
ensp
ENSP00000588741
resolver
ensp
ENSP00000588742
resolver
ensp
ENSP00000588743
resolver
ensp
ENSP00000620468
resolver
ensp
ENSP00000620469
resolver
enst
ENST00000318240
resolver
enst
ENST00000582392
resolver
enst
ENST00000613385
resolver
enst
ENST00000851744
resolver
enst
ENST00000851745
resolver
enst
ENST00000851746
resolver
enst
ENST00000851747
resolver
enst
ENST00000851748
resolver
enst
ENST00000851749
resolver
enst
ENST00000851750
resolver
enst
ENST00000918681
resolver
enst
ENST00000918682
resolver
enst
ENST00000918683
resolver
enst
ENST00000918684
resolver
enst
ENST00000950409
resolver
enst
ENST00000950410
resolver
genesymbol
C18orf32
resolver
hgnc
HGNC:31690
resolver
uniprot_entry
CR032_HUMAN
resolver
amino_acid_sequence
MVCIPCIVIPVLLWIYKKFLEPYIYPLVSPFVSRIWPKKAIQESNDTNKGKVNFKGADMNGLPTKGPTEICDKKKD
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 25 (GPIBD25) [MIM:619985]: An autosomal recessive disorder with onset in early infancy and characterized by global developmental delay with almost no milestone achievement, brain anomalies, hypotonia, and contractures. Death may occur in early childhood. {ECO:0000269|PubMed:35107634}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May activate the NF-kappa-B signaling pathway. {ECO:0000269|PubMed:12761501}.
uniprot
proteins
mass_dalton
8669
uniprot
proteins
post_translational_modification
PTM: Undergoes ER-associated degradation (ERAD). {ECO:0000269|PubMed:29275994}.
uniprot
proteins
protein_family
UPF0729 family
uniprot
proteins
pubmed
12761501
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
29275994
uniprot
proteins
pubmed
35107634
uniprot
proteins
sequence_length
76
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:29275994, ECO:0000269|PubMed:35107634}. Lipid droplet {ECO:0000269|PubMed:29275994}.
uniprot
proteins