KEGG   Homo sapiens (human): 4337
Entry
4337              CDS       T01001                                 

Gene name
MOCS1, MIG11, MOCOD, MOCS1A, MOCS1B
Definition
(RefSeq) molybdenum cofactor synthesis 1
  KO
K20967  GTP 3',8-cyclase / cyclic pyranopterin monophosphate synthase [EC:4.1.99.22 4.6.1.17]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00880  Molybdenum cofactor biosynthesis, GTP => molybdenum cofactor
Network
nt06025  Molybdenum cofactor biosynthesis
  Element
N00890  Molybdenum cofactor biosynthesis
N00891  MOCOS deficiency in molybdenum cofactor biosynthesis
N00892  GPHN deficiency in molybdenum cofactor biosynthesis
N00893  MOCS2 deficiency in molybdenum cofactor biosynthesis
N00894  MOCS1 deficiency in molybdenum cofactor biosynthesis
N10026  Replacement of cofactor cPMP for deficient MOCS1
Disease
H02311  Molybdenum cofactor deficiency
Drug target
Fosdenopterin (DG03102): D11779 D11780<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    4337 (MOCS1)
Enzymes [BR:hsa01000]
 4. Lyases
  4.1  Carbon-carbon lyases
   4.1.99  Other carbon-carbon lyases
    4.1.99.22  GTP 3',8-cyclase
     4337 (MOCS1)
  4.6  Phosphorus-oxygen lyases
   4.6.1  Phosphorus-oxygen lyases (only sub-subclass identified to date)
    4.6.1.17  cyclic pyranopterin monophosphate synthase
     4337 (MOCS1)
SSDB
Motif
Pfam: Mob_synth_C Radical_SAM Fer4_12 Fer4_14 Radical_SAM_2
Other DBs
NCBI-GeneID: 4337
NCBI-ProteinID: NP_001068566
OMIM: 603707
HGNC: 7190
Ensembl: ENSG00000124615
Vega: OTTHUMG00000014656
Pharos: Q9NZB8(Tbio)
UniProt: Q9NZB8 A0A024RD17
LinkDB
Position
6p21.2
AA seq 385 aa
MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVSRRRQFLREHAAPFSAF
LTDSFGRQHSYLRISLTEKCNLRCQYCMPEEGVPLTPKANLLTTEEILTLARLFVKEGID
KIRLTGGEPLIRPDVVDIVAQLQRLEGLRTIGVTTNGINLARLLPQLQKAGLSAINISLD
TLVPAKFEFIVRRKGFHKVMEGIHKAIELGYNPVKVNCVVMRGLNEDELLDFAALTEGLP
LDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWPELEKVPEEESSTAKAFKIPGFQGQ
ISFITSMSEHFCGTCNRLRITADGNLKVCLFGNSEVSLRDHLRAGASEQELLRIIGAAVG
RKKRQHAGMFSISQMKNRPMILIGG
NT seq 1158 nt   +upstreamnt  +downstreamnt
atggcggcgcggccactgtcccggatgctgcggcggcttctgaggtccagcgcccggagc
tgcagctcaggggctccggtgacccagccctgccccggggagtccgcgcgagctgcctcg
gaggaggtgtccaggcggaggcagttcctgcgggagcatgcggcccccttctccgccttc
ctcacagacagcttcggccggcagcacagctacctgcggatctccctcacagagaagtgc
aacctcagatgtcagtactgcatgcccgaggagggggtcccgctgacccccaaagccaac
ctgctgaccacagaggagatcctgaccctcgcccggctctttgtgaaggaaggcatcgac
aagatccggctcacaggtggagagccgcttatccggccggacgtggtggacattgtggcc
cagctccagcggctggaagggctgagaaccataggtgttaccaccaatggcatcaacctg
gcccggctactgccccagcttcagaaggctggtctcagtgccatcaacatcagcctggac
accctggtgcctgccaagtttgagttcattgtccgcaggaaaggcttccacaaggtcatg
gagggcatccacaaggccatcgagctgggctacaaccctgtgaaggtgaactgtgtggtg
atgcgaggccttaacgaggatgaactcctggactttgcggccttgactgagggcctcccc
ctggatgtgcgcttcatagagtatatgccctttgatggcaacaagtggaacttcaagaag
atggtcagctataaggagatgctagacactgtccggcagcagtggccagagctggagaag
gtgccagaggaggaatccagcacagccaaggcctttaaaatccctggcttccaaggccag
atcagcttcatcacatccatgtctgagcatttctgtgggacctgcaaccgcctgcgaatc
acagctgatgggaacctcaaggtctgcctctttggaaactctgaggtatccctgcgggat
cacctgcgagctggggcctctgagcaggagctgctgagaatcattggggctgctgtgggc
aggaagaagcggcagcatgcaggcatgttcagtatttcccagatgaagaaccggcccatg
atcctcatcggtgggtga

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