[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
DOI=10.1006/geno.2000.6343; PubMed=11056053 [NCBI, ExPASy, EBI, Israel, Japan]
Dupuy D.,
Aubert I.,
Duperat V.G.,
Petit J.,
Taine L.,
Stef M.,
Bloch B.,
Arveiler B.;
"Mapping, characterization, and expression analysis of the SM-20 human homologue, C1orf12, and identification of a novel related gene, SCAND2.";
Genomics 69:348-354(2000).
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[2]
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NUCLEOTIDE SEQUENCE (ISOFORM 1).
DOI=10.1016/S0378-1119(01)00633-3; PubMed=11574160 [NCBI, ExPASy, EBI, Israel, Japan]
Taylor M.S.;
"Characterization and comparative analysis of the EGLN gene family.";
Gene 275:125-132(2001).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 160-426 (ISOFORM 1).
TISSUE=Amygdala;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S.,
Rosenfelder H.,
Duda A.,
Schmidt C.P.,
Ernst U.,
Wellenreuther R.,
Mehrle A.,
Schuster C.,
Bahr A.,
Blocker H.,
Heubner D.,
Hoerlein A.,
Michel G.,
Wedler H.,
Kohrer K.,
Ottenwalder B.,
Poustka A.,
Wiemann S.,
Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G.,
Barlow K.F.,
McLay K.E.,
Kaul R.,
Swarbreck D.,
Dunham A.,
Scott C.E.,
Howe K.L.,
Woodfine K.,
Spencer C.C.A.,
Jones M.C.,
Gillson C.,
Searle S.,
Zhou Y.,
Kokocinski F.,
McDonald L.,
Evans R.,
Phillips K.,
Atkinson A., ![]()
Cooper R.,
Jones C.,
Hall R.E.,
Andrews T.D.,
Lloyd C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Anderson F.,
Andrew R.W.,
Ashwell R.I.S.,
Aubin K.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Beasley H.,
Bethel G.,
Bird C.P.,
Bray-Allen S.,
Brown J.Y.,
Brown A.J.,
Buckley D.,
Burton J.,
Bye J.,
Carder C.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.,
Cobley V.,
Collier R.E.,
Corby N.,
Coville G.J.,
Davies J.,
Deadman R.,
Dunn M.,
Earthrowl M.,
Ellington A.G.,
Errington H.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gay L.,
Ghori M.R.J.,
Gibson R.,
Gilby L.M.,
Gillett W.,
Glithero R.J.,
Grafham D.V.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Hammond S.,
Harrison E.S.I.,
Hart E.,
Haugen E.,
Heath P.D.,
Holmes S.,
Holt K.,
Howden P.J.,
Hunt A.R.,
Hunt S.E.,
Hunter G.,
Isherwood J.,
James R.,
Johnson C.,
Johnson D.,
Joy A.,
Kay M.,
Kershaw J.K.,
Kibukawa M.,
Kimberley A.M.,
King A.,
Knights A.J.,
Lad H.,
Laird G.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
Lush M.J.,
Lyne R.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
Matthews N.S.W.,
McLaren S.,
Milne S.,
Mistry S.,
Moore M.J.F.,
Nickerson T.,
O'Dell C.N.,
Oliver K.,
Palmeiri A.,
Palmer S.A.,
Parker A.,
Patel D.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phelps K.,
Phillimore B.J.,
Plumb R.,
Rajan J.,
Raymond C.,
Rouse G.,
Saenphimmachak C.,
Sehra H.K.,
Sheridan E.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.,
Steward C.,
Subramanian S.,
Sycamore N.,
Tracey A.,
Tromans A.,
Van Helmond Z.,
Wall M.,
Wallis J.M.,
White S.,
Whitehead S.L.,
Wilkinson J.E.,
Willey D.L.,
Williams H.,
Wilming L.,
Wray P.W.,
Wu Z.,
Coulson A.,
Vaudin M.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Wooster R.,
Dunham I.,
Carter N.P.,
McVean G.,
Ross M.T.,
Harrow J.,
Olson M.V.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-426 (ISOFORM 2).
TISSUE=Promyelocytic leukemia;
Yu W.-Q.,
Sun B.-Z.,
Chai Y.-B.,
Zhu F.,
Liu X.-S.,
Li Z.,
Lu F.,
Yan W.,
Yang H.,
Zhao Z.-L.;
"Human acute promyelocytic leukemia cell line NB4's apoptosis related genes.";
Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
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[6]
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REVIEW.
DOI=10.1016/S0092-8674(01)00518-9; PubMed=11595178 [NCBI, ExPASy, EBI, Israel, Japan]
Semenza G.L.;
"HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus.";
Cell 107:1-3(2001).
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[7]
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FUNCTION.
DOI=10.1016/S0092-8674(01)00507-4; PubMed=11595184 [NCBI, ExPASy, EBI, Israel, Japan]
Epstein A.C.R.,
Gleadle J.M.,
McNeill L.A.,
Hewitson K.S.,
O'Rourke J.,
Mole D.R.,
Mukherji M.,
Metzen E.,
Wilson M.I.,
Dhanda A.,
Tian Y.M.,
Masson N.,
Hamilton D.L.,
Jaakkola P.,
Barstead R.,
Hodgkin J.,
Maxwell P.H.,
Pugh C.W.,
Schofield C.J.,
Ratcliffe P.J.;
"C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation.";
Cell 107:43-54(2001).
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[8]
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FUNCTION.
DOI=10.1073/pnas.192342099; PubMed=12351678 [NCBI, ExPASy, EBI, Israel, Japan]
Ivan M.,
Haberberger T.,
Gervasi D.C.,
Michelson K.S.,
Guenzler V.,
Kondo K.,
Yang H.,
Sorokina I.,
Conaway R.C.,
Conaway J.W.,
Kaelin W.G. Jr.;
"Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.";
Proc. Natl. Acad. Sci. U.S.A. 99:13459-13464(2002).
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[9]
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TISSUE SPECIFICITY.
DOI=10.1016/S0006-291X(02)00862-8; PubMed=12163023 [NCBI, ExPASy, EBI, Israel, Japan]
Oehme F.,
Ellinghaus P.,
Kolkhof P.,
Smith T.J.,
Ramakrishnan S.,
Huetter J.,
Schramm M.,
Flamme I.;
"Overexpression of PH-4, a novel putative proline 4-hydroxylase, modulates activity of hypoxia-inducible transcription factors.";
Biochem. Biophys. Res. Commun. 296:343-349(2002).
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[10]
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TISSUE SPECIFICITY, AND ENZYME REGULATION.
DOI=10.1016/S0006-291X(03)00453-4; PubMed=12670503 [NCBI, ExPASy, EBI, Israel, Japan]
Cioffi C.L.,
Qin Liu X.,
Kosinski P.A.,
Garay M.,
Bowen B.R.;
"Differential regulation of HIF-1alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells.";
Biochem. Biophys. Res. Commun. 303:947-953(2003).
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[11]
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INTERACTION WITH ING4, AND ENZYME REGULATION.
DOI=10.1073/pnas.0502716102; PubMed=15897452 [NCBI, ExPASy, EBI, Israel, Japan]
Ozer A.,
Wu L.C.,
Bruick R.K.;
"The candidate tumor suppressor ING4 represses activation of the hypoxia inducible factor (HIF).";
Proc. Natl. Acad. Sci. U.S.A. 102:7481-7486(2005).
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[12]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[13]
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X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 181-417 IN COMPLEXES WITH IRON AND COMPETITIVE INHIBITOR, MUTAGENESIS OF TYR-303 AND ARG-383, AND SUBUNIT.
DOI=10.1073/pnas.0601283103; PubMed=16782814 [NCBI, ExPASy, EBI, Israel, Japan]
McDonough M.A.,
Li V.,
Flashman E.,
Chowdhury R.,
Mohr C.,
Lienard B.M.R.,
Zondlo J.,
Oldham N.J.,
Clifton I.J.,
Lewis J.,
McNeill L.A.,
Kurzeja R.J.,
Hewitson K.S.,
Yang E.,
Jordan S.,
Syed R.S.,
Schofield C.J.;
"Cellular oxygen sensing: crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2).";
Proc. Natl. Acad. Sci. U.S.A. 103:9814-9819(2006).
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[14]
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VARIANT ECYT3 ARG-317, AND CHARACTERIZATION OF VARIANT ECYT3 ARG-317.
DOI=10.1073/pnas.0508423103; PubMed=16407130 [NCBI, ExPASy, EBI, Israel, Japan]
Percy M.J.,
Zhao Q.,
Flores A.,
Harrison C.,
Lappin T.R.,
Maxwell P.H.,
McMullin M.F.,
Lee F.S.;
"A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.";
Proc. Natl. Acad. Sci. U.S.A. 103:654-659(2006).
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[15]
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VARIANT ECYT3 HIS-371, AND CHARACTERIZATION OF VARIANT EXCYT3 HIS-371.
DOI=10.1182/blood-2007-04-084434; PubMed=17579185 [NCBI, ExPASy, EBI, Israel, Japan]
Percy M.J.,
Furlow P.W.,
Beer P.A.,
Lappin T.R.J.,
McMullin M.F.,
Lee F.S.;
"A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.";
Blood 110:2193-2196(2007).
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