OGFD3_HUMAN
ID OGFD3_HUMAN Reviewed; 319 AA.
AC Q6PK18; C9JDC8; Q8IZ37; Q9H6J2;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3;
DE EC=1.14.11.-;
GN Name=OGFOD3; Synonyms=C17orf101;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Epithelium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ARG-272.
RC TISSUE=Placenta, and Skin;
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- COFACTOR:
CC Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
CC Evidence={ECO:0000255|PROSITE-ProRule:PRU00805};
CC Note=Binds 1 Fe(2+) ion per subunit. {ECO:0000255|PROSITE-
CC ProRule:PRU00805};
CC -!- COFACTOR:
CC Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000250};
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6PK18-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PK18-2; Sequence=VSP_032462;
CC -!- SIMILARITY: Belongs to the OGFOD3 family. {ECO:0000305}.
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DR EMBL; AK025875; BAB15267.1; -; mRNA.
DR EMBL; AC132938; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008897; AAH08897.1; -; mRNA.
DR EMBL; BC023602; AAH23602.1; -; mRNA.
DR CCDS; CCDS11811.1; -. [Q6PK18-1]
DR CCDS; CCDS11812.1; -. [Q6PK18-2]
DR RefSeq; NP_078924.1; NM_024648.2. [Q6PK18-1]
DR RefSeq; NP_787098.3; NM_175902.4. [Q6PK18-2]
DR AlphaFoldDB; Q6PK18; -.
DR BioGRID; 122821; 30.
DR IntAct; Q6PK18; 7.
DR STRING; 9606.ENSP00000330075; -.
DR GlyConnect; 981; 3 N-Linked glycans (2 sites).
DR GlyGen; Q6PK18; 2 sites, 3 N-linked glycans (2 sites).
DR iPTMnet; Q6PK18; -.
DR PhosphoSitePlus; Q6PK18; -.
DR BioMuta; OGFOD3; -.
DR DMDM; 172046153; -.
DR EPD; Q6PK18; -.
DR jPOST; Q6PK18; -.
DR MassIVE; Q6PK18; -.
DR MaxQB; Q6PK18; -.
DR PaxDb; Q6PK18; -.
DR PeptideAtlas; Q6PK18; -.
DR PRIDE; Q6PK18; -.
DR ProteomicsDB; 67230; -. [Q6PK18-1]
DR ProteomicsDB; 67231; -. [Q6PK18-2]
DR Antibodypedia; 63655; 15 antibodies from 8 providers.
DR DNASU; 79701; -.
DR Ensembl; ENST00000313056.10; ENSP00000320116.5; ENSG00000181396.13. [Q6PK18-1]
DR Ensembl; ENST00000329197.9; ENSP00000330075.5; ENSG00000181396.13. [Q6PK18-2]
DR GeneID; 79701; -.
DR KEGG; hsa:79701; -.
DR MANE-Select; ENST00000313056.10; ENSP00000320116.5; NM_024648.3; NP_078924.1.
DR UCSC; uc002ket.3; human. [Q6PK18-1]
DR CTD; 79701; -.
DR DisGeNET; 79701; -.
DR GeneCards; OGFOD3; -.
DR HGNC; HGNC:26174; OGFOD3.
DR HPA; ENSG00000181396; Low tissue specificity.
DR neXtProt; NX_Q6PK18; -.
DR OpenTargets; ENSG00000181396; -.
DR PharmGKB; PA164716907; -.
DR VEuPathDB; HostDB:ENSG00000181396; -.
DR eggNOG; ENOG502QR2P; Eukaryota.
DR GeneTree; ENSGT00390000005895; -.
DR HOGENOM; CLU_042482_0_0_1; -.
DR InParanoid; Q6PK18; -.
DR OMA; RVEKVLW; -.
DR OrthoDB; 674380at2759; -.
DR PhylomeDB; Q6PK18; -.
DR TreeFam; TF329031; -.
DR PathwayCommons; Q6PK18; -.
DR SignaLink; Q6PK18; -.
DR BioGRID-ORCS; 79701; 15 hits in 1079 CRISPR screens.
DR ChiTaRS; OGFOD3; human.
DR GenomeRNAi; 79701; -.
DR Pharos; Q6PK18; Tdark.
DR PRO; PR:Q6PK18; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6PK18; protein.
DR Bgee; ENSG00000181396; Expressed in pancreatic ductal cell and 186 other tissues.
DR ExpressionAtlas; Q6PK18; baseline and differential.
DR Genevisible; Q6PK18; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0051213; F:dioxygenase activity; IEA:UniProtKB-KW.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0031418; F:L-ascorbic acid binding; IEA:UniProtKB-KW.
DR GO; GO:0016705; F:oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; IEA:InterPro.
DR InterPro; IPR039210; OGFOD3.
DR InterPro; IPR005123; Oxoglu/Fe-dep_dioxygenase.
DR InterPro; IPR006620; Pro_4_hyd_alph.
DR InterPro; IPR044862; Pro_4_hyd_alph_FE2OG_OXY.
DR PANTHER; PTHR14650; PTHR14650; 1.
DR Pfam; PF13640; 2OG-FeII_Oxy_3; 1.
DR SMART; SM00702; P4Hc; 1.
DR PROSITE; PS51471; FE2OG_OXY; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Dioxygenase; Glycoprotein; Iron; Membrane;
KW Metal-binding; Oxidoreductase; Reference proteome; Signal-anchor;
KW Transmembrane; Transmembrane helix; Vitamin C.
FT CHAIN 1..319
FT /note="2-oxoglutarate and iron-dependent oxygenase domain-
FT containing protein 3"
FT /id="PRO_0000325885"
FT TOPO_DOM 1..42
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 43..65
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 66..319
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT DOMAIN 207..309
FT /note="Fe2OG dioxygenase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00805"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 16..34
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT ACT_SITE 298
FT /evidence="ECO:0000255"
FT BINDING 230
FT /ligand="Fe cation"
FT /ligand_id="ChEBI:CHEBI:24875"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00805"
FT BINDING 232
FT /ligand="Fe cation"
FT /ligand_id="ChEBI:CHEBI:24875"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00805"
FT BINDING 288
FT /ligand="Fe cation"
FT /ligand_id="ChEBI:CHEBI:24875"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00805"
FT BINDING 298
FT /ligand="2-oxoglutarate"
FT /ligand_id="ChEBI:CHEBI:16810"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00805"
FT CARBOHYD 215
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 276..319
FT /note="RVSFFTSGSENLHRVEKVHWGTRYAITIAFSCNPDHGIEDPAFP -> CFCF
FT RMMSCGFQEVNGPRASEAAGAKAGVRCPPGTHHPPERGETHAILEAESIAYC (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032462"
FT VARIANT 67
FT /note="D -> E (in dbSNP:rs8072110)"
FT /id="VAR_039948"
FT VARIANT 272
FT /note="P -> R (in dbSNP:rs17852152)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039949"
FT CONFLICT Q6PK18-2:314
FT /note="P -> S (in Ref. 3; AAH08897)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 319 AA; 35646 MW; 02F7FD0D5BA715B7 CRC64;
MAPQRRAATK APEGNGAAER RNRSSTKKDR APREVQRLWQ RPWLRTAGLG AGFVLTALLL
WSSLGADDGV AEVLARRGEV VAGRFIEVPC SEDYDSHRRF EGCTPRKCGR GVTDVVITRE
EAERIRSVAE KGLSLGGSDG GASILDLHSG ALSVGKHFVN LYRYFGDKIQ NIFSEEDFRL
YREVRQKVQL TIAEAFGISA SSLHLTKPTF FSRINSTEAR TAHDEYWHAH VDKVTYGSFD
YTSLLYLSNY LEDFGGGRFM FMEEGANKTV EPRAGRVSFF TSGSENLHRV EKVHWGTRYA
ITIAFSCNPD HGIEDPAFP
