CP20A_HUMAN
ID CP20A_HUMAN Reviewed; 462 AA.
AC Q6UW02; Q4ZG61; Q8N4Q8; Q8WWA9; Q9HC04;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Cytochrome P450 20A1;
DE EC=1.14.-.-;
GN Name=CYP20A1; ORFNames=UNQ667/PRO1301;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANTS LEU-97 AND PHE-346.
RC TISSUE=Pheochromocytoma;
RA Peng Y., Li Y., Tu Y., Xu S., Han Z., Fu G., Chen Z.;
RT "A novel gene expressed in human pheochromocytoma.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS LEU-97 AND
RP PHE-346.
RC TISSUE=Blood, and Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] PHE-346, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- COFACTOR:
CC Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000250};
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6UW02-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UW02-2; Sequence=VSP_055585;
CC -!- SIMILARITY: Belongs to the cytochrome P450 family. {ECO:0000305}.
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DR EMBL; AF183412; AAG09681.1; -; mRNA.
DR EMBL; AY359068; AAQ89427.1; -; mRNA.
DR EMBL; AC011737; AAX88915.1; -; Genomic_DNA.
DR EMBL; BC020616; AAH20616.1; -; mRNA.
DR EMBL; BC033752; AAH33752.1; -; mRNA.
DR CCDS; CCDS2357.1; -. [Q6UW02-1]
DR RefSeq; NP_803882.1; NM_177538.2. [Q6UW02-1]
DR AlphaFoldDB; Q6UW02; -.
DR SMR; Q6UW02; -.
DR BioGRID; 121506; 18.
DR IntAct; Q6UW02; 4.
DR STRING; 9606.ENSP00000348380; -.
DR iPTMnet; Q6UW02; -.
DR PhosphoSitePlus; Q6UW02; -.
DR BioMuta; CYP20A1; -.
DR DMDM; 74749375; -.
DR EPD; Q6UW02; -.
DR jPOST; Q6UW02; -.
DR MassIVE; Q6UW02; -.
DR MaxQB; Q6UW02; -.
DR PaxDb; Q6UW02; -.
DR PeptideAtlas; Q6UW02; -.
DR PRIDE; Q6UW02; -.
DR ProteomicsDB; 67441; -. [Q6UW02-1]
DR Antibodypedia; 34163; 280 antibodies from 30 providers.
DR DNASU; 57404; -.
DR Ensembl; ENST00000356079.9; ENSP00000348380.4; ENSG00000119004.17. [Q6UW02-1]
DR GeneID; 57404; -.
DR KEGG; hsa:57404; -.
DR MANE-Select; ENST00000356079.9; ENSP00000348380.4; NM_177538.3; NP_803882.1.
DR UCSC; uc002uzv.5; human. [Q6UW02-1]
DR CTD; 57404; -.
DR DisGeNET; 57404; -.
DR GeneCards; CYP20A1; -.
DR HGNC; HGNC:20576; CYP20A1.
DR HPA; ENSG00000119004; Low tissue specificity.
DR neXtProt; NX_Q6UW02; -.
DR OpenTargets; ENSG00000119004; -.
DR PharmGKB; PA134911420; -.
DR VEuPathDB; HostDB:ENSG00000119004; -.
DR eggNOG; KOG0157; Eukaryota.
DR GeneTree; ENSGT00500000044939; -.
DR HOGENOM; CLU_050960_1_0_1; -.
DR InParanoid; Q6UW02; -.
DR OrthoDB; 1038194at2759; -.
DR PhylomeDB; Q6UW02; -.
DR TreeFam; TF105089; -.
DR PathwayCommons; Q6UW02; -.
DR SignaLink; Q6UW02; -.
DR BioGRID-ORCS; 57404; 6 hits in 1078 CRISPR screens.
DR ChiTaRS; CYP20A1; human.
DR GeneWiki; CYP20A1; -.
DR GenomeRNAi; 57404; -.
DR Pharos; Q6UW02; Tbio.
DR PRO; PR:Q6UW02; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6UW02; protein.
DR Bgee; ENSG00000119004; Expressed in calcaneal tendon and 148 other tissues.
DR ExpressionAtlas; Q6UW02; baseline and differential.
DR Genevisible; Q6UW02; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0004497; F:monooxygenase activity; IEA:UniProtKB-KW.
DR GO; GO:0016705; F:oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; IEA:InterPro.
DR Gene3D; 1.10.630.10; -; 1.
DR InterPro; IPR001128; Cyt_P450.
DR InterPro; IPR002401; Cyt_P450_E_grp-I.
DR InterPro; IPR036396; Cyt_P450_sf.
DR Pfam; PF00067; p450; 1.
DR PRINTS; PR00463; EP450I.
DR SUPFAM; SSF48264; SSF48264; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Heme; Iron; Membrane; Metal-binding; Monooxygenase;
KW Oxidoreductase; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..462
FT /note="Cytochrome P450 20A1"
FT /id="PRO_0000318095"
FT TRANSMEM 4..24
FT /note="Helical"
FT /evidence="ECO:0000255"
FT BINDING 409
FT /ligand="heme"
FT /ligand_id="ChEBI:CHEBI:30413"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000250"
FT VAR_SEQ 201..251
FT /note="VWSEIGKGFLDGSLDKNMTRKKQYEDALMQLESVLRNIIKERKGRNFSQHI
FT -> PSCNWSLFKEHHKRTKRKELQSTY (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_055585"
FT VARIANT 97
FT /note="S -> L (in dbSNP:rs2043449)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_059153"
FT VARIANT 346
FT /note="L -> F (in dbSNP:rs1048013)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT ECO:0007744|PubMed:24275569"
FT /id="VAR_059154"
FT CONFLICT 77
FT /note="L -> V (in Ref. 1; AAG09681)"
FT /evidence="ECO:0000305"
FT CONFLICT 124
FT /note="K -> E (in Ref. 4; AAH20616)"
FT /evidence="ECO:0000305"
FT CONFLICT 333..334
FT /note="TV -> LF (in Ref. 1; AAG09681)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 462 AA; 52432 MW; 4C0FEFFA0B9B055A CRC64;
MLDFAIFAVT FLLALVGAVL YLYPASRQAA GIPGITPTEE KDGNLPDIVN SGSLHEFLVN
LHERYGPVVS FWFGRRLVVS LGTVDVLKQH INPNKTSDPF ETMLKSLLRY QSGGGSVSEN
HMRKKLYENG VTDSLKSNFA LLLKLSEELL DKWLSYPETQ HVPLSQHMLG FAMKSVTQMV
MGSTFEDDQE VIRFQKNHGT VWSEIGKGFL DGSLDKNMTR KKQYEDALMQ LESVLRNIIK
ERKGRNFSQH IFIDSLVQGN LNDQQILEDS MIFSLASCII TAKLCTWAIC FLTTSEEVQK
KLYEEINQVF GNGPVTPEKI EQLRYCQHVL CETVRTAKLT PVSAQLQDIE GKIDRFIIPR
ETLVLYALGV VLQDPNTWPS PHKFDPDRFD DELVMKTFSS LGFSGTQECP ELRFAYMVTT
VLLSVLVKRL HLLSVEGQVI ETKYELVTSS REEAWITVSK RY
