KEGG   Homo sapiens (human): 285362
Entry
285362            CDS       T01001                                 
Symbol
SUMF1, AAPA3037, FGE, UNQ3037
Name
(RefSeq) sulfatase modifying factor 1
  KO
K13444  formylglycine-generating enzyme [EC:1.8.3.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome
Disease
H00272  Multiple sulfatase deficiency
H00423  Sphingolipidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    285362 (SUMF1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.8  Acting on a sulfur group of donors
   1.8.3  With oxygen as acceptor
    1.8.3.7  formylglycine-generating enzyme
     285362 (SUMF1)
SSDB
Motif
Pfam: FGE-sulfatase
Other DBs
NCBI-GeneID: 285362
NCBI-ProteinID: NP_877437
OMIM: 607939
HGNC: 20376
Ensembl: ENSG00000144455
UniProt: Q8NBK3
Structure
Position
3:complement(4034486..4467269)
AA seq 374 aa
MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGA
HGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVT
IDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWW
LPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLH
NRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWE
WTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASN
LGFRCAADRLPTMD
NT seq 1125 nt   +upstreamnt  +downstreamnt
atggctgcgcccgcactagggctggtgtgtggacgttgccctgagctgggtctcgtcctc
ttgctgctgctgctctcgctgctgtgtggagcggcagggagccaggaggccgggaccggt
gcgggcgcggggtcccttgcgggttcttgcggctgcggcacgccccagcggcctggcgcc
catggcagttcggcagccgctcaccgatactcgcgggaggctaacgctccgggccccgta
cccggagagcggcaactcgcgcactcaaagatggtccccatccctgctggagtatttaca
atgggcacagatgatcctcagataaagcaggatggggaagcacctgcgaggagagttact
attgatgccttttacatggatgcctatgaagtcagtaatactgaatttgagaagtttgtg
aactcaactggctatttgacagaggctgagaagtttggcgactcctttgtctttgaaggc
atgttgagtgagcaagtgaagaccaatattcaacaggcagttgcagctgctccctggtgg
ttacctgtgaaaggcgctaactggagacacccagaagggcctgactctactattctgcac
aggccggatcatccagttctccatgtgtcctggaatgatgcggttgcctactgcacttgg
gcagggaagcggctgcccacggaagctgagtgggaatacagctgtcgaggaggcctgcat
aatagacttttcccctggggcaacaaactgcagcccaaaggccagcattatgccaacatt
tggcagggcgagtttccggtgaccaacactggtgaggatggcttccaaggaactgcgcct
gttgatgccttccctcccaatggttatggcttatacaacatagtggggaacgcatgggaa
tggacttcagactggtggactgttcatcattctgttgaagaaacgcttaacccaaaaggt
cccccttctgggaaagaccgagtgaagaaaggtggatcctacatgtgccataggtcttat
tgttacaggtatcgctgtgctgctcggagccagaacacacctgatagctctgcttcgaat
ctgggattccgctgtgcagccgaccgcctgcccactatggactga

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