KEGG   Homo sapiens (human): 1589
Entry
1589              CDS       T01001                                 

Gene name
CYP21A2, CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
Definition
(RefSeq) cytochrome P450 family 21 subfamily A member 2
  KO
K00513  steroid 21-monooxygenase [EC:1.14.14.16]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00140  Steroid hormone biosynthesis
hsa01100  Metabolic pathways
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing syndrome
Module
hsa_M00108  C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosterone
hsa_M00109  C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone
Network
nt06019  Steroid hormone biosynthesis
  Element
N00338  Steroid hormone biosynthesis, progesterone to cortisol/cortisone
N00339  Steroid hormone biosynthesis, progesterone to aldosterone
N00760  CYP11B1 deficiency in steroid hormone biosynthesis
N00761  CYP21A2 deficiency in steroid hormone biosynthesis
N00762  CYP17A1 deficiency in steroid hormone biosynthesis
N00773  HSD11B2 deficiency in steroid hormone biosynthesis
N00774  CYP11B2 deficiency in steroid hormone biosynthesis
Disease
H00216  Congenital adrenal hyperplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00140 Steroid hormone biosynthesis
    1589 (CYP21A2)
 09150 Organismal Systems
  09152 Endocrine system
   04925 Aldosterone synthesis and secretion
    1589 (CYP21A2)
   04927 Cortisol synthesis and secretion
    1589 (CYP21A2)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    1589 (CYP21A2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   00199 Cytochrome P450 [BR:hsa00199]
    1589 (CYP21A2)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.14  With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.14.16  steroid 21-monooxygenase
     1589 (CYP21A2)
Cytochrome P450 [BR:hsa00199]
 Cytochrome P450, animal type
  CYP21 family
   1589 (CYP21A2)
SSDB
Motif
Pfam: p450
Other DBs
NCBI-GeneID: 1589
NCBI-ProteinID: NP_000491
OMIM: 613815
HGNC: 2600
Ensembl: ENSG00000231852
Vega: OTTHUMG00000031069
Pharos: P08686(Tbio)
UniProt: P08686 Q16874 Q08AG9
LinkDB
Structure
PDB: 
4Y8W 5VBU

Position
6p21.33
AA seq 495 aa
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIY
RLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAH
KKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGD
KIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANT
LSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVV
PLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRAL
AFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ
NT seq 1488 nt   +upstreamnt  +downstreamnt
atgctgctcctgggcctgctgctgctgctgcccctgctggctggcgcccgcctgctgtgg
aactggtggaagctccggagcctccacctcccgcctcttgccccgggcttcttgcacctg
ctgcagcccgacctccccatctatctgcttggcctgactcagaaattcgggcccatctac
aggctccaccttgggctgcaagatgtggtggtgctgaactccaagaggaccattgaggaa
gccatggtcaaaaagtgggcagactttgctggcagacctgagccacttacctacaagctg
gtgtctaggaactacccggacctgtccttgggagactactccctgctctggaaagcccac
aagaagctcacccgctcagccctgctgctgggcatccgtgactccatggagccagtggtg
gagcagctgacccaggagttctgtgagcgcatgagagcccagcccggcacccctgtggcc
attgaggaggaattctctctcctcacctgcagcatcatctgttacctcaccttcggagac
aagatcaaggacgacaacttaatgcctgcctattacaaatgtatccaggaggtgttaaaa
acctggagccactggtccatccaaattgtggacgtgattccctttctcaggttcttcccc
aatccaggtctccggaggctgaagcaggccatagagaagagggatcacatcgtggagatg
cagctgaggcagcacaaggagagcctcgtggcaggccagtggagggacatgatggactac
atgctccaaggggtggcgcagccgagcatggaagagggctctggacagctcctggaaggg
cacgtgcacatggctgcagtggacctcctgatcggtggcactgagaccacagcaaacacc
ctctcctgggccgtggtttttttgcttcaccaccctgagattcagcagcgactgcaggag
gagctagaccacgaactgggccctggtgcctccagctcccgggtcccctacaaggaccgt
gcacggctgcccttgctcaatgccaccatcgccgaggtgctgcgcctgcggcccgttgtg
cccttagccttgccccaccgcaccacacggcccagcagcatctccggctacgacatccct
gagggcacagtcatcattccgaacctccaaggcgcccacctggatgagacggtctgggag
aggccacatgagttctggcctgatcgcttcctggagccaggcaagaactccagagctctg
gccttcggctgcggtgcccgcgtgtgcctgggcgagccgctggcgcgcctggagctcttc
gtggtgctgacccgactgctgcaggccttcacgctgctgccctccggggacgccctgccc
tccctgcagcccctgccccactgcagtgtcatcctcaagatgcagcctttccaagtgcgg
ctgcagccccgggggatgggggcccacagcccgggccagagccagtga

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