NXRD1_HUMAN
ID NXRD1_HUMAN Reviewed; 359 AA.
AC Q6NXP6; B3KQ47; O95435;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-MAR-2007, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=NADP-dependent oxidoreductase domain-containing protein 1;
DE EC=1.-.-.-;
DE AltName: Full=Pyrroline-5-carboxylate reductase-like protein C14orf148;
GN Name=NOXRED1; Synonyms=C14orf148;
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).
RC TISSUE=Testis;
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 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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).
CC -!- FUNCTION: Probable oxidoreductase. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6NXP6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NXP6-2; Sequence=VSP_038392;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the pyrroline-5-carboxylate reductase family.
CC {ECO:0000305}.
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DR EMBL; AK057371; BAG51909.1; -; mRNA.
DR EMBL; AF111168; AAD09625.1; -; Genomic_DNA.
DR EMBL; AC007954; AAF62562.1; -; Genomic_DNA.
DR EMBL; CH471061; EAW81285.1; -; Genomic_DNA.
DR EMBL; BC066965; AAH66965.1; -; mRNA.
DR CCDS; CCDS45142.1; -. [Q6NXP6-1]
DR RefSeq; NP_001106946.1; NM_001113475.2. [Q6NXP6-1]
DR RefSeq; XP_005267387.1; XM_005267330.3. [Q6NXP6-1]
DR RefSeq; XP_011534729.1; XM_011536427.2. [Q6NXP6-1]
DR RefSeq; XP_011534730.1; XM_011536428.2. [Q6NXP6-1]
DR AlphaFoldDB; Q6NXP6; -.
DR SMR; Q6NXP6; -.
DR BioGRID; 125805; 9.
DR IntAct; Q6NXP6; 1.
DR STRING; 9606.ENSP00000370215; -.
DR iPTMnet; Q6NXP6; -.
DR PhosphoSitePlus; Q6NXP6; -.
DR BioMuta; NOXRED1; -.
DR DMDM; 134034048; -.
DR MassIVE; Q6NXP6; -.
DR PaxDb; Q6NXP6; -.
DR PeptideAtlas; Q6NXP6; -.
DR PRIDE; Q6NXP6; -.
DR Antibodypedia; 54657; 30 antibodies from 13 providers.
DR DNASU; 122945; -.
DR Ensembl; ENST00000380835.7; ENSP00000370215.2; ENSG00000165555.10. [Q6NXP6-1]
DR GeneID; 122945; -.
DR KEGG; hsa:122945; -.
DR MANE-Select; ENST00000380835.7; ENSP00000370215.2; NM_001113475.3; NP_001106946.1.
DR UCSC; uc001xtr.4; human. [Q6NXP6-1]
DR CTD; 122945; -.
DR DisGeNET; 122945; -.
DR GeneCards; NOXRED1; -.
DR HGNC; HGNC:20487; NOXRED1.
DR HPA; ENSG00000165555; Group enriched (retina, testis).
DR neXtProt; NX_Q6NXP6; -.
DR OpenTargets; ENSG00000165555; -.
DR PharmGKB; PA134935429; -.
DR VEuPathDB; HostDB:ENSG00000165555; -.
DR eggNOG; KOG3124; Eukaryota.
DR GeneTree; ENSGT00950000183044; -.
DR InParanoid; Q6NXP6; -.
DR OMA; YCDSFGI; -.
DR OrthoDB; 1123920at2759; -.
DR PhylomeDB; Q6NXP6; -.
DR TreeFam; TF335538; -.
DR PathwayCommons; Q6NXP6; -.
DR SignaLink; Q6NXP6; -.
DR BioGRID-ORCS; 122945; 7 hits in 1065 CRISPR screens.
DR ChiTaRS; NOXRED1; human.
DR GenomeRNAi; 122945; -.
DR Pharos; Q6NXP6; Tdark.
DR PRO; PR:Q6NXP6; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q6NXP6; protein.
DR Bgee; ENSG00000165555; Expressed in sperm and 94 other tissues.
DR ExpressionAtlas; Q6NXP6; baseline and differential.
DR Genevisible; Q6NXP6; HS.
DR GO; GO:0004735; F:pyrroline-5-carboxylate reductase activity; IBA:GO_Central.
DR GO; GO:0055129; P:L-proline biosynthetic process; IBA:GO_Central.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR InterPro; IPR028939; P5C_Rdtase_cat_N.
DR InterPro; IPR000304; Pyrroline-COOH_reductase.
DR PANTHER; PTHR11645; PTHR11645; 1.
DR Pfam; PF03807; F420_oxidored; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Oxidoreductase; Reference proteome.
FT CHAIN 1..359
FT /note="NADP-dependent oxidoreductase domain-containing
FT protein 1"
FT /id="PRO_0000280279"
FT VAR_SEQ 229..359
FT /note="GIILNIKWLEGVFYAALNICTARNMAHSQVLQLLSELFLSVHFEDCGKDTAS
FT CPKLQLTDFVSKAYGKNLSQERPFPWFDLTAVQLKETPFSQHLSSSPVLQDHLTHLYCA
FT SFGISLTKEQPVISTGFPSQ -> HGSTYFWHSFENYFPVGPLLSY (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_038392"
FT CONFLICT 166
FT /note="V -> A (in Ref. 4; AAH66965)"
FT /evidence="ECO:0000305"
FT CONFLICT 183
FT /note="N -> D (in Ref. 4; AAH66965)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 359 AA; 39880 MW; B0FA3F74289B3A92 CRC64;
MDMLQDLESL QFEYGVPEED RIWLYLQGRS RGLMIEACAH ATFFCKLLYN LRASLNKNQS
SRHLSIGSLN SATPEEFKVG IIGGGHLGKQ LAGTLLQLGP IPAESLRIST RRPETLGELQ
KLGIKCFYHN ADLVSWADVI FLCCLPSQLP NICVEIYTSL EKASIVYSFV AAIPLPRLKL
LLNHTNILRP QYQYDEDSVS VWGANKGVIA ALQDPTILQA TCPYSPAGGI ILNIKWLEGV
FYAALNICTA RNMAHSQVLQ LLSELFLSVH FEDCGKDTAS CPKLQLTDFV SKAYGKNLSQ
ERPFPWFDLT AVQLKETPFS QHLSSSPVLQ DHLTHLYCAS FGISLTKEQP VISTGFPSQ
