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2024-04-19 17:22:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022073 2722 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens egl nine homolog 3 (C. elegans) (EGLN3), mRNA.
ACCESSION NM_022073 NM_033344
VERSION NM_022073.3 GI:130509310
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2722)
AUTHORS Fujita,N., Gogate,S.S., Chiba,K., Toyama,Y., Shapiro,I.M. and
Risbud,M.V.
TITLE Prolyl hydroxylase 3 (PHD3) modulates catabolic effects of tumor
necrosis factor-alpha (TNF-alpha) on cells of the nucleus pulposus
through co-activation of nuclear factor kappaB (NF-kappaB)/p65
signaling
JOURNAL J. Biol. Chem. 287 (47), 39942-39953 (2012)
PUBMED 22948157
REMARK GeneRIF: Prolyl hydroxylase 3 (PHD3) modulates catabolic effects of
tumor necrosis factor-alpha (TNF-alpha) on cells of the nucleus
pulposus through co-activation of nuclear factor kappaB
(NF-kappaB)/p65 signaling.
REFERENCE 2 (bases 1 to 2722)
AUTHORS Escribese,M.M., Sierra-Filardi,E., Nieto,C., Samaniego,R.,
Sanchez-Torres,C., Matsuyama,T., Calderon-Gomez,E., Vega,M.A.,
Salas,A., Sanchez-Mateos,P. and Corbi,A.L.
TITLE The prolyl hydroxylase PHD3 identifies proinflammatory macrophages
and its expression is regulated by activin A
JOURNAL J. Immunol. 189 (4), 1946-1954 (2012)
PUBMED 22778395
REMARK GeneRIF: These results indicate that EGLN3 gene expression in
macrophages is dependent on activin A
REFERENCE 3 (bases 1 to 2722)
AUTHORS Xie,L., Pi,X., Mishra,A., Fong,G., Peng,J. and Patterson,C.
TITLE PHD3-dependent hydroxylation of HCLK2 promotes the DNA damage
response
JOURNAL J. Clin. Invest. 122 (8), 2827-2836 (2012)
PUBMED 22797300
REMARK GeneRIF: identification of HCLK2 as a substrate of PHD3 reveals the
mechanism through which hypoxia inhibits the DDR, suggesting
hydroxylation of HCLK2 is a potential therapeutic target for
regulating the ATR/CHK1/p53 pathway
REFERENCE 4 (bases 1 to 2722)
AUTHORS Sciorra,V.A., Sanchez,M.A., Kunibe,A. and Wurmser,A.E.
TITLE Suppression of glioma progression by Egln3
JOURNAL PLoS ONE 7 (8), E40053 (2012)
PUBMED 22905089
REMARK GeneRIF: Egln3 suppresses glioma progression
REFERENCE 5 (bases 1 to 2722)
AUTHORS Liang,Q.L., Li,Z.Y., Zhou,Y., Liu,Q.L., Ou,W.T. and Huang,Z.G.
TITLE Construction of a recombinant eukaryotic expression vector
containing PHD3 gene and its expression in HepG2 cells
JOURNAL J. Exp. Clin. Cancer Res. 31, 64 (2012)
PUBMED 22898032
REMARK GeneRIF: Our study has provided preliminary materials and data for
further investigation of the effect of PHD3 on HepG2 cells
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 2722)
AUTHORS Oehme,F., Ellinghaus,P., Kolkhof,P., Smith,T.J., Ramakrishnan,S.,
Hutter,J., Schramm,M. and Flamme,I.
TITLE Overexpression of PH-4, a novel putative proline 4-hydroxylase,
modulates activity of hypoxia-inducible transcription factors
JOURNAL Biochem. Biophys. Res. Commun. 296 (2), 343-349 (2002)
PUBMED 12163023
REFERENCE 7 (bases 1 to 2722)
AUTHORS Bruick,R.K. and McKnight,S.L.
TITLE A conserved family of prolyl-4-hydroxylases that modify HIF
JOURNAL Science 294 (5545), 1337-1340 (2001)
PUBMED 11598268
REFERENCE 8 (bases 1 to 2722)
AUTHORS Epstein,A.C., 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.
and Ratcliffe,P.J.
TITLE C. elegans EGL-9 and mammalian homologs define a family of
dioxygenases that regulate HIF by prolyl hydroxylation
JOURNAL Cell 107 (1), 43-54 (2001)
PUBMED 11595184
REFERENCE 9 (bases 1 to 2722)
AUTHORS Semenza,G.L.
TITLE HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the
nucleus
JOURNAL Cell 107 (1), 1-3 (2001)
PUBMED 11595178
REMARK Review article
REFERENCE 10 (bases 1 to 2722)
AUTHORS Taylor,M.S.
TITLE Characterization and comparative analysis of the EGLN gene family
JOURNAL Gene 275 (1), 125-132 (2001)
PUBMED 11574160
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AK025273.1 and AL358340.6.
On or before Mar 14, 2007 this sequence version replaced
gi:15375331, gi:31742485.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AJ310545.1, AK025273.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025090 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1256 AK025273.1 1-1256
1257-2722 AL358340.6 42360-43825 c
FEATURES Location/Qualifiers
source 1..2722
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q13.1"
gene 1..2722
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="egl nine homolog 3 (C. elegans)"
/db_xref="GeneID:112399"
/db_xref="HGNC:14661"
/db_xref="HPRD:06972"
/db_xref="MIM:606426"
exon 1..683
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="alignment:Splign:1.39.8"
variation 173
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="a"
/replace="c"
/db_xref="dbSNP:11542096"
STS 253..1540
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/db_xref="UniSTS:486445"
CDS 327..1046
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/EC_number="1.14.11.29"
/note="HIF prolyl hydroxylase 3; egl nine-like protein 3
isoform; HPH-1; HPH-3; HIF-PH3; HIF-prolyl hydroxylase 3;
hypoxia-inducible factor prolyl hydroxylase 3; prolyl
hydroxylase domain-containing protein 3"
/codon_start=1
/product="egl nine homolog 3"
/protein_id="NP_071356.1"
/db_xref="GI:11545787"
/db_xref="CCDS:CCDS9646.1"
/db_xref="GeneID:112399"
/db_xref="HGNC:14661"
/db_xref="HPRD:06972"
/db_xref="MIM:606426"
/translation="
MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVLERVKQLHCTGALRDGQLAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLVLYCGSRLGKYYVKERSKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYFDAEERAEAKKKFRNLTRKTESALTED
"
misc_feature 432..965
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="Prolyl 4-hydroxylase alpha subunit homologues;
Region: P4Hc; smart00702"
/db_xref="CDD:197834"
misc_feature 510..545
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H6Z9.1);
Region: Beta(2)beta(3) 'finger-like' loop (By similarity)"
misc_feature 588..638
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9H6Z9.1);
Region: Required for interaction with ADRB2"
misc_feature 684..965
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="2OG-Fe(II) oxygenase superfamily; Region:
2OG-FeII_Oxy_3; pfam13640"
/db_xref="CDD:205817"
STS 457..577
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="matching EMBL:AA028887;
RHdb:RH93981;
dbSTS:STS66974;
Identified using the e-PCR software (G. Schuler)"
STS 488..724
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="matching EMBL:AA028887;
RHdb:RH80356;
dbSTS:STS56778;
Identified using the e-PCR software (G. Schuler)"
variation 538
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="a"
/replace="g"
/db_xref="dbSNP:34347250"
exon 684..803
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="alignment:Splign:1.39.8"
exon 804..940
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="alignment:Splign:1.39.8"
exon 941..1014
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="alignment:Splign:1.39.8"
exon 1015..2722
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/inference="alignment:Splign:1.39.8"
STS 1174..1297
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/note="matching EMBL:AA917421;
RHdb:RH93914;
dbSTS:STS66907;
Identified using the e-PCR software (G. Schuler)"
STS 1255..1377
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/standard_name="RH69722"
/db_xref="UniSTS:57963"
variation 1257
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1680709"
STS 1426..1549
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/standard_name="RH93914"
/db_xref="UniSTS:92474"
variation 1666
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1384373"
variation 1730
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1384374"
variation 1744
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1384375"
STS 1999..2235
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/standard_name="RH80356"
/db_xref="UniSTS:92852"
variation 2040
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/replace="a"
/replace="g"
/db_xref="dbSNP:1680710"
STS 2146..2266
/gene="EGLN3"
/gene_synonym="HIFP4H3; HIFPH3; PHD3"
/standard_name="RH93981"
/db_xref="UniSTS:87017"
ORIGIN
gagtctggccgcagtcgcggcagtggtggcttcccatccccaaaaggcgccctccgactccttgcgccgcactgctcgccgggccagtccggaaacgggtcgtggagctccgcaccactcccgctggttcccgaaggcagatcccttctcccgagagttgcgagaaactttcccttgtccccgacgctgcagcggctcgggtaccgtggcagccgcaggtttctgaaccccgggccacgctccccgcgcctcggcttcgcgctcgtgtagatcgttccctctctggttgcacgctggggatcccggacctcgattctgcgggcgagatgcccctgggacacatcatgaggctggacctggagaaaattgccctggagtacatcgtgccctgtctgcacgaggtgggcttctgctacctggacaacttcctgggcgaggtggtgggcgactgcgtcctggagcgcgtcaagcagctgcactgcaccggggccctgcgggacggccagctggcggggccgcgcgccggcgtctccaagcgacacctgcggggcgaccagatcacgtggatcgggggcaacgaggagggctgcgaggccatcagcttcctcctgtccctcatcgacaggctggtcctctactgcgggagccggctgggcaaatactacgtcaaggagaggtctaaggcaatggtggcttgctatccgggaaatggaacaggttatgttcgccacgtggacaaccccaacggtgatggtcgctgcatcacctgcatctactatctgaacaagaattgggatgccaagctacatggtgggatcctgcggatatttccagaggggaaatcattcatagcagatgtggagcccatttttgacagactcctgttcttctggtcagatcgtaggaacccacacgaagtgcagccctcttacgcaaccagatatgctatgactgtctggtactttgatgctgaagaaagggcagaagccaaaaagaaattcaggaatttaactaggaaaactgaatctgccctcactgaagactgaccgtgctctgaaatctgctggccttgttcattttagtaacggttcctgaattctcttaaattctttgagatccaaagatggcctcttcagtgacaacaatctccctgctacttcttgcatccttcacatccctgtcttgtgtgtggtacttcatgttttcttgccaagactgtgttgatcttcagatactctctttgccagatgaagttacttgctaactccagaaattcctgcagacatcctactcggccagcggtttacctgatagattcggtaatactatcaagagaagagcctaggagcacagcgagggaatgaaccttacttgcactttatgtatacttcctgatttgaaaggaggaggtttgaaaagaaaaaaatggaggtggtagatgccacagagaggcatcacggaagccttaacagcaggaaacagagaaatttgtgtcatctgaacaatttccagatgttcttaatccagggctgttggggtttctggagaattatcacaacctaatgacattaatacctctagaaagggctgctgtcatagtgaacaatttataagtgtcccatggggcagacactccttttttcccagtcctgcaacctggattttctgcctcagccccattttgctgaaaataatgactttctgaataaagatggcaacacaattttttctccattttcagttcttacctgggaacctaattccccagaagctaaaaaactagacattagttgttttggttgctttgttggaatggaatttaaatttaaatgaaaggaaaaatatatccctggtagttttgtgttaaccactgataactgtggaaagagctaggtctactgatatacaataaacatgtgtgcatcttgaacaatttgagaggggaggtggagttggaaatgtgggtgttcctgttttttttttttttttttttttagttttcctttttaatgagctcaccctttaacacaaaaaaagcaaggtgatgtattttaaaaaaggaagtggaaataaaaaaatctcaaagctatttgagttctcgtctgtccctagcagtctttcttcagctcacttggctctctagatccactgtggttggcagtatgaccagaatcatggaatttgctagaactgtggaagcttctactcctgcagtaagcacagatcgcactgcctcaataacttggtattgagcacgtattttgcaaaagctacttttcctagttttcagtattactttcatgttttaaaaatccctttaatttcttgcttgaaaatcccatgaacattaaagagccagaaatattttcctttgttatgtacggatatatatatatatagtcttccaagatagaagtttactttttcctcttctggttttggaaaatttccagataagacatgtcaccattaattctcaacgactgctctattttgttgtacggtaatagttatcaccttctaaattactatgtaatttattcacttattatgtttattgtcttgtatcctttctctggagtgtaagcacaatgaagacaggaattttgtatatttttaaccaatgcaacatactctcagcacctaaaatagtgccgggaacatagtaagggctcagtaaatacttgttgaataaactcagtctcctacattagcattctaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:112399 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA
GeneID:112399 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:112399 -> Molecular function: GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] evidence: IEA
GeneID:112399 -> Molecular function: GO:0031418 [L-ascorbic acid binding] evidence: IEA
GeneID:112399 -> Molecular function: GO:0031545 [peptidyl-proline 4-dioxygenase activity] evidence: IDA
GeneID:112399 -> Biological process: GO:0001666 [response to hypoxia] evidence: IEP
GeneID:112399 -> Biological process: GO:0006915 [apoptotic process] evidence: IEP
GeneID:112399 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IEP
GeneID:112399 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IEA
GeneID:112399 -> Biological process: GO:0018126 [protein hydroxylation] evidence: IDA
GeneID:112399 -> Biological process: GO:0018401 [peptidyl-proline hydroxylation to 4-hydroxy-L-proline] evidence: IDA
GeneID:112399 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: IEP
GeneID:112399 -> Biological process: GO:0043523 [regulation of neuron apoptotic process] evidence: ISS
GeneID:112399 -> Biological process: GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia] evidence: TAS
GeneID:112399 -> Biological process: GO:0071456 [cellular response to hypoxia] evidence: TAS
GeneID:112399 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:112399 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:112399 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:112399 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_071356 -> EC 1.14.11.29
by
@meso_cacase at
DBCLS
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