Gene Symbol |
SUMF1
|
Entrez Gene |
285362
|
Alt Symbol |
AAPA3037, FGE, UNQ3037
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
sulfatase modifying factor 1
|
Other Description |
C-alpha-formylglycine-generating enzyme 1|FGly-generating enzyme|sulfatase-modifying factor 1
|
Swissprots |
Q0VAC6 B4DXK5 Q2NL78 Q8NBK3 Q53ZE4 B7XD05 Q0VAC7 Q6UY39 G5E9B0 Q96AK5 E9PGL0 Q96DK8
|
Accessions |
CAH25965 EAW63906 EAW63907 Q8NBK3 AB448737 BAH11168 AK057983 BAB71625 AK075459 BAC11634 AK094111 AK295240 BAG58233 AK302018 BAG63417 AY208752 AAO34683 AY323910 AAP86217 AY358092 AAQ88459 BC017005 AAH17005 BC110862 AAI10863 BC121122 AAI21123 BC121123 AAI21124 BG705404 CA413741 DA844846 XM_011533623 XP_011531925 XM_011533624 XP_011531926 XM_011533625 XP_011531927 XM_011533626 XP_011531928 NM_001164674 NP_001158146 NM_001164675 NP_001158147 NM_182760 NP_877437
|
Function |
Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE. {ECO:0000269|PubMed:12757706, ECO:0000269|PubMed:15657036}.
|
Subcellular Location |
Endoplasmic reticulum lumen {ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15962010}.
|
Tissue Specificity |
Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart. {ECO:0000269|PubMed:15962010}.
|
Top Pathways |
Lysosome
|