UBIA1_DANRE
ID UBIA1_DANRE Reviewed; 336 AA.
AC E7FB98;
DT 29-MAY-2013, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 1.
DT 03-AUG-2022, entry version 55.
DE RecName: Full=UbiA prenyltransferase domain-containing protein 1;
DE EC=2.5.1.-;
DE AltName: Full=Protein barolo;
DE AltName: Full=Protein reddish;
GN Name=ubiad1; Synonyms=bar, reh;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE,
RP AND MUTAGENESIS OF LEU-82.
RX PubMed=23374346; DOI=10.1016/j.cell.2013.01.013;
RA Mugoni V., Postel R., Catanzaro V., De Luca E., Turco E., Digilio G.,
RA Silengo L., Murphy M.P., Medana C., Stainier D.Y., Bakkers J.,
RA Santoro M.M.;
RT "Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10
RT synthesis.";
RL Cell 152:504-518(2013).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF LEU-65.
RX PubMed=23533172; DOI=10.1242/dev.093112;
RA Hegarty J.M., Yang H., Chi N.C.;
RT "UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial
RT cell survival and development.";
RL Development 140:1713-1719(2013).
CC -!- FUNCTION: Prenyltransferase that mediates the formation of menaquinone-
CC 4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform required for
CC endothelial cell development. Mediates the conversion of phylloquinone
CC (PK) into MK-4, probably by cleaving the side chain of phylloquinone
CC (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then
CC prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4.
CC Also plays a role in cardiovascular development independently of MK-4
CC biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme
CC Q10, also named ubiquinone, plays an important antioxidant role in the
CC cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the
CC Golgi membrane, leading to protect cardiovascular tissues from
CC nos3/eNOS-dependent oxidative stress. {ECO:0000269|PubMed:23374346,
CC ECO:0000269|PubMed:23533172}.
CC -!- PATHWAY: Quinol/quinone metabolism; menaquinone biosynthesis.
CC -!- PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}. Golgi apparatus membrane
CC {ECO:0000269|PubMed:23374346}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:23374346}. Mitochondrion {ECO:0000250}.
CC -!- DEVELOPMENTAL STAGE: Ubiquitous expression at 24 hours post
CC fertilization (hpf) in addition to a distinct expression in the heart
CC at 48 hpf. {ECO:0000269|PubMed:23374346}.
CC -!- DISRUPTION PHENOTYPE: Cranial vascular hemorrhages and pericardial
CC edema, leading to complete cardiac and vascular organ failure by 72
CC hpf. Defects are due to increased oxidative stress.
CC {ECO:0000269|PubMed:23374346, ECO:0000269|PubMed:23533172}.
CC -!- SIMILARITY: Belongs to the UbiA prenyltransferase family.
CC {ECO:0000305}.
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DR EMBL; CABZ01068151; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001186655.1; NM_001199726.3.
DR AlphaFoldDB; E7FB98; -.
DR STRING; 7955.ENSDARP00000012519; -.
DR PaxDb; E7FB98; -.
DR Ensembl; ENSDART00000015554; ENSDARP00000012519; ENSDARG00000013009.
DR GeneID; 558410; -.
DR KEGG; dre:558410; -.
DR CTD; 29914; -.
DR ZFIN; ZDB-GENE-030131-3205; ubiad1.
DR eggNOG; KOG4581; Eukaryota.
DR GeneTree; ENSGT00390000012439; -.
DR HOGENOM; CLU_043611_0_0_1; -.
DR InParanoid; E7FB98; -.
DR OMA; QWIEGAR; -.
DR OrthoDB; 1146311at2759; -.
DR PhylomeDB; E7FB98; -.
DR TreeFam; TF323238; -.
DR Reactome; R-DRE-6806664; Metabolism of vitamin K.
DR UniPathway; UPA00079; -.
DR UniPathway; UPA00232; -.
DR PRO; PR:E7FB98; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 8.
DR Bgee; ENSDARG00000013009; Expressed in somite and 25 other tissues.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IDA:ZFIN.
DR GO; GO:0030173; C:integral component of Golgi membrane; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0016209; F:antioxidant activity; IMP:UniProtKB.
DR GO; GO:0004517; F:nitric-oxide synthase activity; IGI:ZFIN.
DR GO; GO:0004659; F:prenyltransferase activity; IDA:UniProtKB.
DR GO; GO:0071498; P:cellular response to fluid shear stress; IGI:ZFIN.
DR GO; GO:0072359; P:circulatory system development; IMP:UniProtKB.
DR GO; GO:0001885; P:endothelial cell development; IMP:UniProtKB.
DR GO; GO:0009234; P:menaquinone biosynthetic process; IMP:UniProtKB.
DR GO; GO:0006744; P:ubiquinone biosynthetic process; IMP:UniProtKB.
DR GO; GO:0032194; P:ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate; IMP:ZFIN.
DR GO; GO:0042371; P:vitamin K biosynthetic process; IMP:UniProtKB.
DR CDD; cd13962; PT_UbiA_UBIAD1; 1.
DR Gene3D; 1.10.357.140; -; 1.
DR InterPro; IPR000537; UbiA_prenyltransferase.
DR InterPro; IPR044878; UbiA_sf.
DR InterPro; IPR026046; UBIAD1.
DR PANTHER; PTHR13929; PTHR13929; 1.
DR Pfam; PF01040; UbiA; 1.
DR PIRSF; PIRSF005355; UBIAD1; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Golgi apparatus; Membrane; Menaquinone biosynthesis;
KW Mitochondrion; Prenyltransferase; Reference proteome; Transferase;
KW Transmembrane; Transmembrane helix; Ubiquinone biosynthesis.
FT CHAIN 1..336
FT /note="UbiA prenyltransferase domain-containing protein 1"
FT /id="PRO_0000422598"
FT TRANSMEM 79..99
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 129..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 158..178
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 180..200
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 201..221
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 254..274
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 315..335
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 65
FT /note="L->Q: In reh(S587); cranial vascular hemmorhages in
FT multiple areas of the head, leading to death by 72 hpf."
FT /evidence="ECO:0000269|PubMed:23533172"
FT MUTAGEN 82
FT /note="L->Q: In bar(S847); increased oxidative stress, DNA
FT damage and cell death specifically in blood vessels and the
FT heart."
FT /evidence="ECO:0000269|PubMed:23374346"
SQ SEQUENCE 336 AA; 36214 MW; 89D81FC22405AF35 CRC64;
MQEMKPAALS GSNGLNGASG SSVRVPCSRL SRAGRMALDL QSKCAAYVLA LRPWSFSASL
TPVALGSALA YKLEGSVDLL LLLVCAVAVL LVHGAGNLVN TYYDFSKGID HKKSDDRTLV
DQILKPQDVV MFGAVLYSAG CLCATLLYFL SSLKLEHLAL IYFGGLSSSF LYTGGIGLKY
VALGDVVILI TFGPLAVMFA HAVQVGYLSV LPLVYAVPLA LNTEAILHSN NTRDMDSDKQ
AGIVTLAILL GPTLSYVIYN LLLFVPYLLF CILATRYTIS MALPLLTLPM AFPLERQFRC
RCYAKIPQKT AKLNLLMGLF YVFGIILAPQ GSLPLL
