D39U1_HUMAN
ID D39U1_HUMAN Reviewed; 293 AA.
AC Q9NRG7; Q6ZW71; Q9BVQ3;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-FEB-2019, sequence version 3.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Epimerase family protein SDR39U1 {ECO:0000305};
DE EC=1.1.1.-;
DE AltName: Full=Short-chain dehydrogenase/reductase family 39U member 1 {ECO:0000303|PubMed:19027726};
GN Name=SDR39U1; Synonyms=C14orf124, HCDI;
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 2), AND VARIANT VAL-181.
RC TISSUE=Thalamus;
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=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS LEU-79;
RP PHE-232 AND ARG-270.
RC TISSUE=Placenta;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 6-293 (ISOFORM 1), AND VARIANT LEU-79.
RC TISSUE=Adrenal gland;
RA Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human adrenal gland.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NOMENCLATURE.
RX PubMed=19027726; DOI=10.1016/j.cbi.2008.10.040;
RA Persson B., Kallberg Y., Bray J.E., Bruford E., Dellaporta S.L.,
RA Favia A.D., Duarte R.G., Joernvall H., Kavanagh K.L., Kedishvili N.,
RA Kisiela M., Maser E., Mindnich R., Orchard S., Penning T.M., Thornton J.M.,
RA Adamski J., Oppermann U.;
RT "The SDR (short-chain dehydrogenase/reductase and related enzymes)
RT nomenclature initiative.";
RL Chem. Biol. Interact. 178:94-98(2009).
RN [6]
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).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 25-291 (ISOFORM 1) IN COMPLEX WITH
RP NADPH, AND PUTATIVE FUNCTION.
RG Structural genomics consortium (SGC);
RT "Crystal structure of human epimerase family protein SDR39U1 (isoform2)
RT with NADPH.";
RL Submitted (AUG-2012) to the PDB data bank.
CC -!- FUNCTION: Putative NADP-dependent oxidoreductase. {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NRG7-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NRG7-3; Sequence=VSP_060049, VSP_060050;
CC -!- TISSUE SPECIFICITY: Expressed in adrenal gland.
CC -!- MISCELLANEOUS: Despite its name, it shares more sequence similarity
CC with the sugar epimerase family than with the short-chain
CC dehydrogenases/reductases (SDR) family.
CC -!- SIMILARITY: Belongs to the NAD(P)-dependent epimerase/dehydratase
CC family. SDR39U1 subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF86950.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAF86950.1; Type=Miscellaneous discrepancy; Note=Intron retention at the N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK123513; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL132800; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000989; AAH00989.1; -; mRNA.
DR EMBL; AF226050; AAF86950.1; ALT_SEQ; mRNA.
DR CCDS; CCDS45091.1; -. [Q9NRG7-2]
DR RefSeq; NP_001277221.1; NM_001290292.1.
DR RefSeq; NP_001295004.1; NM_001308075.1.
DR RefSeq; NP_064580.2; NM_020195.2. [Q9NRG7-2]
DR PDB; 4B4O; X-ray; 2.70 A; A/B/C/D/E/F/G/H=25-291.
DR PDBsum; 4B4O; -.
DR AlphaFoldDB; Q9NRG7; -.
DR SMR; Q9NRG7; -.
DR BioGRID; 121272; 31.
DR IntAct; Q9NRG7; 6.
DR MINT; Q9NRG7; -.
DR STRING; 9606.ENSP00000382327; -.
DR iPTMnet; Q9NRG7; -.
DR MetOSite; Q9NRG7; -.
DR PhosphoSitePlus; Q9NRG7; -.
DR BioMuta; SDR39U1; -.
DR DMDM; 269849556; -.
DR EPD; Q9NRG7; -.
DR jPOST; Q9NRG7; -.
DR MassIVE; Q9NRG7; -.
DR MaxQB; Q9NRG7; -.
DR PaxDb; Q9NRG7; -.
DR PeptideAtlas; Q9NRG7; -.
DR PRIDE; Q9NRG7; -.
DR ProteomicsDB; 82357; -. [Q9NRG7-2]
DR ProteomicsDB; 82358; -. [Q9NRG7-3]
DR Antibodypedia; 22920; 92 antibodies from 19 providers.
DR DNASU; 56948; -.
DR Ensembl; ENST00000399395.8; ENSP00000382327.3; ENSG00000100445.18. [Q9NRG7-2]
DR GeneID; 56948; -.
DR KEGG; hsa:56948; -.
DR MANE-Select; ENST00000399395.8; ENSP00000382327.3; NM_020195.3; NP_064580.2.
DR UCSC; uc001wpm.4; human. [Q9NRG7-2]
DR CTD; 56948; -.
DR GeneCards; SDR39U1; -.
DR HGNC; HGNC:20275; SDR39U1.
DR HPA; ENSG00000100445; Low tissue specificity.
DR MIM; 616162; gene.
DR neXtProt; NX_Q9NRG7; -.
DR OpenTargets; ENSG00000100445; -.
DR PharmGKB; PA164725619; -.
DR VEuPathDB; HostDB:ENSG00000100445; -.
DR eggNOG; KOG3019; Eukaryota.
DR GeneTree; ENSGT00390000000337; -.
DR HOGENOM; CLU_047373_0_1_1; -.
DR InParanoid; Q9NRG7; -.
DR OMA; YMPWIHI; -.
DR OrthoDB; 1498565at2759; -.
DR PhylomeDB; Q9NRG7; -.
DR TreeFam; TF324783; -.
DR PathwayCommons; Q9NRG7; -.
DR SignaLink; Q9NRG7; -.
DR BioGRID-ORCS; 56948; 11 hits in 1081 CRISPR screens.
DR GenomeRNAi; 56948; -.
DR Pharos; Q9NRG7; Tdark.
DR PRO; PR:Q9NRG7; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9NRG7; protein.
DR Bgee; ENSG00000100445; Expressed in apex of heart and 205 other tissues.
DR ExpressionAtlas; Q9NRG7; baseline and differential.
DR Genevisible; Q9NRG7; HS.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0016491; F:oxidoreductase activity; IEA:UniProtKB-KW.
DR InterPro; IPR013549; DUF1731.
DR InterPro; IPR001509; Epimerase_deHydtase.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR InterPro; IPR010099; SDR39U1.
DR Pfam; PF08338; DUF1731; 1.
DR Pfam; PF01370; Epimerase; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
DR TIGRFAMs; TIGR01777; yfcH; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; NADP; Oxidoreductase;
KW Reference proteome.
FT CHAIN 1..293
FT /note="Epimerase family protein SDR39U1"
FT /id="PRO_0000279748"
FT BINDING 31..32
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000269|Ref.8, ECO:0007744|PDB:4B4O"
FT BINDING 58..59
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000269|Ref.8, ECO:0007744|PDB:4B4O"
FT BINDING 77
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000269|Ref.8, ECO:0007744|PDB:4B4O"
FT BINDING 82
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000269|Ref.8, ECO:0007744|PDB:4B4O"
FT BINDING 160
FT /ligand="NADP(+)"
FT /ligand_id="ChEBI:CHEBI:58349"
FT /evidence="ECO:0000269|Ref.8, ECO:0007744|PDB:4B4O"
FT VAR_SEQ 1..95
FT /note="Missing (in isoform 2)"
FT /id="VSP_060049"
FT VAR_SEQ 96..109
FT /note="APQPPKAWVLVTGV -> MALSPNGEILRARE (in isoform 2)"
FT /id="VSP_060050"
FT VARIANT 79
FT /note="I -> L (in dbSNP:rs11625819)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_060623"
FT VARIANT 181
FT /note="G -> V (in dbSNP:rs11538256)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_057465"
FT VARIANT 232
FT /note="L -> F (in dbSNP:rs3211056)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_057466"
FT VARIANT 270
FT /note="Q -> R (in dbSNP:rs1043831)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_060624"
FT STRAND 2..6
FT /evidence="ECO:0007829|PDB:4B4O"
FT TURN 7..9
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 11..22
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 26..33
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 38..40
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 41..47
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 53..57
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 72..95
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 101..108
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 109..111
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 131..143
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 146..157
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 159..161
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 166..176
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 192..194
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 195..207
FT /evidence="ECO:0007829|PDB:4B4O"
FT STRAND 213..218
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 225..236
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 246..253
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 255..262
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 270..274
FT /evidence="ECO:0007829|PDB:4B4O"
FT HELIX 284..291
FT /evidence="ECO:0007829|PDB:4B4O"
SQ SEQUENCE 293 AA; 31077 MW; CF32963D28D33D03 CRC64;
MRVLVGGGTG FIGTALTQLL NARGHEVTLV SRKPGPGRIT WDELAASGLP SCDAAVNLAG
ENILNPLRRW NETFQKEVIG SRLETTQLLA KAITKAPQPP KAWVLVTGVA YYQPSLTAEY
DEDSPGGDFD FFSNLVTKWE AAARLPGDST RQVVVRSGVV LGRGGGAMGH MLLPFRLGLG
GPIGSGHQFF PWIHIGDLAG ILTHALEANH VHGVLNGVAP SSATNAEFAQ TLGAALGRRA
FIPLPSAVVQ AVFGRQRAIM LLEGQKVIPQ RTLATGYQYS FPELGAALKE IVA
