HYI_HUMAN
ID HYI_HUMAN Reviewed; 277 AA.
AC Q5T013; D3DPX4; D3DPX5; Q5Q9A2; Q7Z778; Q96S83; Q9BZR3; Q9BZR4;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Putative hydroxypyruvate isomerase;
DE EC=5.3.1.22;
DE AltName: Full=Endothelial cell apoptosis protein E-CE1;
GN Name=HYI; ORFNames=HT036, SB156;
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 3).
RC TISSUE=Liver;
RA Zhang B.L., Fan B.X., Liu Y.N.;
RT "Study of a new protein that interacts with endostatin.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Hypothalamus;
RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RA Li N., Zhang M., Wan T., Zhang W., Cao X.;
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-247 (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 2-247 (ISOFORM 3), AND VARIANT ASN-239.
RC TISSUE=Kidney, and Ovary;
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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND INDUCTION.
RX PubMed=19722193; DOI=10.1002/pmic.200700886;
RA Liu H., Shen J., Feng L., Yu Y.;
RT "Low concentration of anti-7,8-dihydroxy-9,10-epoxy-7,8,9,10-
RT tetrahydrobenzo[a]pyrene induces alterations of extracellular protein
RT profile of exposed epithelial cells.";
RL Proteomics 9:4259-4264(2009).
CC -!- FUNCTION: Catalyzes the reversible isomerization between
CC hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate
CC semialdehyde). {ECO:0000250}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=3-hydroxypyruvate = 2-hydroxy-3-oxopropanoate;
CC Xref=Rhea:RHEA:11952, ChEBI:CHEBI:17180, ChEBI:CHEBI:57978;
CC EC=5.3.1.22;
CC -!- INTERACTION:
CC Q5T013; Q05519: SRSF11; NbExp=3; IntAct=EBI-749235, EBI-1051785;
CC Q5T013; Q8IYF3: TEX11; NbExp=4; IntAct=EBI-749235, EBI-742397;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5T013-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T013-2; Sequence=VSP_025986, VSP_025987;
CC Name=3;
CC IsoId=Q5T013-3; Sequence=VSP_025987;
CC Name=4;
CC IsoId=Q5T013-4; Sequence=VSP_025986;
CC -!- INDUCTION: Up-regulated by exposure to 7,8-Dihydroxy-9,10-epoxy-
CC 7,8,9,10-tetrahydrobenzo[a]pyrene (BPDE) after which is found in the
CC culture medium of amniotic epithelial cells.
CC {ECO:0000269|PubMed:19722193}.
CC -!- SIMILARITY: Belongs to the hyi family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH06140.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH19041.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAV84474.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY775560; AAV84474.1; ALT_FRAME; mRNA.
DR EMBL; AF284750; AAG59852.1; -; mRNA.
DR EMBL; AF284751; AAG59853.1; -; mRNA.
DR EMBL; AY037165; AAK67642.1; -; mRNA.
DR EMBL; AL583862; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX07090.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07091.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07093.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07094.1; -; Genomic_DNA.
DR EMBL; BC006140; AAH06140.1; ALT_SEQ; mRNA.
DR EMBL; BC019041; AAH19041.1; ALT_INIT; mRNA.
DR CCDS; CCDS488.2; -. [Q5T013-3]
DR CCDS; CCDS53309.1; -. [Q5T013-1]
DR RefSeq; NP_001177809.1; NM_001190880.2. [Q5T013-1]
DR RefSeq; NP_001230455.1; NM_001243526.1.
DR RefSeq; NP_112484.3; NM_031207.5. [Q5T013-3]
DR AlphaFoldDB; Q5T013; -.
DR SMR; Q5T013; -.
DR BioGRID; 123621; 27.
DR IntAct; Q5T013; 3.
DR STRING; 9606.ENSP00000361502; -.
DR iPTMnet; Q5T013; -.
DR PhosphoSitePlus; Q5T013; -.
DR BioMuta; HYI; -.
DR DMDM; 152125829; -.
DR EPD; Q5T013; -.
DR jPOST; Q5T013; -.
DR MassIVE; Q5T013; -.
DR MaxQB; Q5T013; -.
DR PaxDb; Q5T013; -.
DR PeptideAtlas; Q5T013; -.
DR PRIDE; Q5T013; -.
DR ProteomicsDB; 64113; -. [Q5T013-1]
DR ProteomicsDB; 64114; -. [Q5T013-2]
DR ProteomicsDB; 64115; -. [Q5T013-3]
DR ProteomicsDB; 64116; -. [Q5T013-4]
DR Antibodypedia; 32347; 167 antibodies from 26 providers.
DR DNASU; 81888; -.
DR Ensembl; ENST00000372430.9; ENSP00000361507.4; ENSG00000178922.18. [Q5T013-1]
DR Ensembl; ENST00000372432.5; ENSP00000361509.1; ENSG00000178922.18. [Q5T013-3]
DR GeneID; 81888; -.
DR KEGG; hsa:81888; -.
DR MANE-Select; ENST00000372430.9; ENSP00000361507.4; NM_001190880.3; NP_001177809.1.
DR UCSC; uc001cjn.4; human. [Q5T013-1]
DR CTD; 81888; -.
DR DisGeNET; 81888; -.
DR GeneCards; HYI; -.
DR HGNC; HGNC:26948; HYI.
DR HPA; ENSG00000178922; Low tissue specificity.
DR MalaCards; HYI; -.
DR MIM; 619128; gene.
DR neXtProt; NX_Q5T013; -.
DR OpenTargets; ENSG00000178922; -.
DR PharmGKB; PA142671668; -.
DR VEuPathDB; HostDB:ENSG00000178922; -.
DR eggNOG; KOG4518; Eukaryota.
DR GeneTree; ENSGT00390000005462; -.
DR InParanoid; Q5T013; -.
DR OMA; CEYRPRA; -.
DR PhylomeDB; Q5T013; -.
DR TreeFam; TF312858; -.
DR PathwayCommons; Q5T013; -.
DR SignaLink; Q5T013; -.
DR BioGRID-ORCS; 81888; 21 hits in 1067 CRISPR screens.
DR ChiTaRS; HYI; human.
DR GenomeRNAi; 81888; -.
DR Pharos; Q5T013; Tbio.
DR PRO; PR:Q5T013; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T013; protein.
DR Bgee; ENSG00000178922; Expressed in body of pancreas and 183 other tissues.
DR ExpressionAtlas; Q5T013; baseline and differential.
DR Genevisible; Q5T013; HS.
DR GO; GO:0008903; F:hydroxypyruvate isomerase activity; IBA:GO_Central.
DR GO; GO:0046487; P:glyoxylate metabolic process; IBA:GO_Central.
DR InterPro; IPR026040; HyI-like.
DR InterPro; IPR036237; Xyl_isomerase-like_sf.
DR InterPro; IPR013022; Xyl_isomerase-like_TIM-brl.
DR Pfam; PF01261; AP_endonuc_2; 1.
DR PIRSF; PIRSF006241; HyI; 1.
DR SUPFAM; SSF51658; SSF51658; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Isomerase; Reference proteome.
FT CHAIN 1..277
FT /note="Putative hydroxypyruvate isomerase"
FT /id="PRO_0000289241"
FT ACT_SITE 150
FT /note="Proton donor/acceptor"
FT /evidence="ECO:0000250|UniProtKB:Q9WYP7"
FT ACT_SITE 249
FT /note="Proton donor/acceptor"
FT /evidence="ECO:0000250|UniProtKB:Q9WYP7"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_025986"
FT VAR_SEQ 248..277
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1,
FT ECO:0000303|Ref.2, ECO:0000303|Ref.3"
FT /id="VSP_025987"
FT VARIANT 239
FT /note="D -> N (in dbSNP:rs17850049)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032611"
FT CONFLICT 18
FT /note="S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5;
FT AAH19041)"
FT /evidence="ECO:0000305"
FT CONFLICT 224
FT /note="S -> KP (in Ref. 1; AAV84474)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 277 AA; 30406 MW; 79D5072A8717B4F7 CRC64;
MAPLRFSANL SWLFPELSGL PARVRAAGSS GFEAVEVAWP YAETPEALAR AAREAGLRLV
LINTPPGDQE KGEMGLGAVP GRQAAFREGL EQAVRYAKAL GCPRIHLMAG RVPQGADRIA
VKAEMEAVFL ENLRHAAGVL AQEDLVGLLE PINTRITDPQ YFLDTPQQAA AILQKVGRPN
LQLQMDIFHW QIMDGNLTGN IREFLPIVGH VQVAQVPGRG EPSSPGELNF PYLFQLLEDE
GYKGFVGCEY QPRGDTVEGL SWLRSYWDRR GHPEAGQ
