OXND1_HUMAN
ID OXND1_HUMAN Reviewed; 312 AA.
AC Q96HP4; Q2HYC7; Q59FA4;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Oxidoreductase NAD-binding domain-containing protein 1;
DE EC=1.-.-.-;
DE Flags: Precursor;
GN Name=OXNAD1;
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 [MRNA], AND VARIANT ALA-64.
RA Qiu R., Li J., Ji C., Xie Y., Mao Y.;
RT "Cloning and characterization of human oxidoreductase NAD-binding domain
RT containing 1.";
RL Submitted (JAN-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-312, AND VARIANT CYS-82.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
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).
RN [5]
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).
CC -!- INTERACTION:
CC Q96HP4; Q96L46: CAPNS2; NbExp=3; IntAct=EBI-2862111, EBI-12188723;
CC Q96HP4; Q9Y680: FKBP7; NbExp=3; IntAct=EBI-2862111, EBI-3918971;
CC Q96HP4; A1L4K1: FSD2; NbExp=3; IntAct=EBI-2862111, EBI-5661036;
CC Q96HP4; Q8IY31-3: IFT20; NbExp=3; IntAct=EBI-2862111, EBI-9091197;
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DR EMBL; DQ364598; ABC95193.1; -; mRNA.
DR EMBL; BC008322; AAH08322.1; -; mRNA.
DR EMBL; AB209556; BAD92793.1; -; mRNA.
DR CCDS; CCDS2630.1; -.
DR RefSeq; NP_612390.1; NM_138381.3.
DR RefSeq; XP_016862975.1; XM_017007486.1.
DR RefSeq; XP_016862976.1; XM_017007487.1.
DR RefSeq; XP_016862977.1; XM_017007488.1.
DR RefSeq; XP_016862978.1; XM_017007489.1.
DR RefSeq; XP_016862979.1; XM_017007490.1.
DR RefSeq; XP_016862980.1; XM_017007491.1.
DR RefSeq; XP_016862981.1; XM_017007492.1.
DR AlphaFoldDB; Q96HP4; -.
DR SMR; Q96HP4; -.
DR BioGRID; 124910; 25.
DR IntAct; Q96HP4; 13.
DR STRING; 9606.ENSP00000285083; -.
DR iPTMnet; Q96HP4; -.
DR PhosphoSitePlus; Q96HP4; -.
DR BioMuta; OXNAD1; -.
DR DMDM; 74731959; -.
DR EPD; Q96HP4; -.
DR jPOST; Q96HP4; -.
DR MassIVE; Q96HP4; -.
DR MaxQB; Q96HP4; -.
DR PaxDb; Q96HP4; -.
DR PeptideAtlas; Q96HP4; -.
DR PRIDE; Q96HP4; -.
DR ProteomicsDB; 76772; -.
DR Antibodypedia; 53314; 139 antibodies from 20 providers.
DR DNASU; 92106; -.
DR Ensembl; ENST00000285083.10; ENSP00000285083.5; ENSG00000154814.14.
DR Ensembl; ENST00000605932.5; ENSP00000475547.1; ENSG00000154814.14.
DR GeneID; 92106; -.
DR KEGG; hsa:92106; -.
DR MANE-Select; ENST00000285083.10; ENSP00000285083.5; NM_138381.5; NP_612390.1.
DR UCSC; uc003caw.4; human.
DR CTD; 92106; -.
DR DisGeNET; 92106; -.
DR GeneCards; OXNAD1; -.
DR HGNC; HGNC:25128; OXNAD1.
DR HPA; ENSG00000154814; Low tissue specificity.
DR neXtProt; NX_Q96HP4; -.
DR OpenTargets; ENSG00000154814; -.
DR PharmGKB; PA142671213; -.
DR VEuPathDB; HostDB:ENSG00000154814; -.
DR eggNOG; KOG0534; Eukaryota.
DR GeneTree; ENSGT00390000004280; -.
DR InParanoid; Q96HP4; -.
DR OMA; WIDFFIP; -.
DR OrthoDB; 696109at2759; -.
DR PhylomeDB; Q96HP4; -.
DR TreeFam; TF329774; -.
DR PathwayCommons; Q96HP4; -.
DR SignaLink; Q96HP4; -.
DR BioGRID-ORCS; 92106; 6 hits in 1073 CRISPR screens.
DR ChiTaRS; OXNAD1; human.
DR GenomeRNAi; 92106; -.
DR Pharos; Q96HP4; Tdark.
DR PRO; PR:Q96HP4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96HP4; protein.
DR Bgee; ENSG00000154814; Expressed in left ventricle myocardium and 157 other tissues.
DR ExpressionAtlas; Q96HP4; baseline and differential.
DR Genevisible; Q96HP4; HS.
DR GO; GO:0016491; F:oxidoreductase activity; IEA:UniProtKB-KW.
DR Gene3D; 3.40.50.80; -; 1.
DR InterPro; IPR017927; FAD-bd_FR_type.
DR InterPro; IPR039261; FNR_nucleotide-bd.
DR InterPro; IPR001433; OxRdtase_FAD/NAD-bd.
DR InterPro; IPR017938; Riboflavin_synthase-like_b-brl.
DR Pfam; PF00175; NAD_binding_1; 1.
DR SUPFAM; SSF52343; SSF52343; 1.
DR SUPFAM; SSF63380; SSF63380; 1.
DR PROSITE; PS51384; FAD_FR; 1.
PE 1: Evidence at protein level;
KW NAD; Oxidoreductase; Reference proteome; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000255"
FT CHAIN 18..312
FT /note="Oxidoreductase NAD-binding domain-containing protein
FT 1"
FT /id="PRO_0000299571"
FT DOMAIN 50..186
FT /note="FAD-binding FR-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00716"
FT BINDING 178..183
FT /ligand="NAD(+)"
FT /ligand_id="ChEBI:CHEBI:57540"
FT /evidence="ECO:0000250"
FT VARIANT 59
FT /note="R -> Q (in dbSNP:rs17042066)"
FT /id="VAR_034855"
FT VARIANT 64
FT /note="S -> A (in dbSNP:rs842274)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_034856"
FT VARIANT 82
FT /note="R -> C (in dbSNP:rs6777976)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_034857"
SQ SEQUENCE 312 AA; 34854 MW; D126C2635E821640 CRC64;
MACAAVMIPG LLRCSVGAIR IEAASLRLTL STLRHLTLTS IMKSKRKTDH MERTASVLRR
EIVSAAKVCG AASESPSVKS LRLLVADQDF SFKAGQWVDF FIPGVSVVGG FSICSSPRLL
EQERVIELAV KYTNHPPALW VHNTCTLDCE VAVRVGGEFF FDPQPADASR NLVLIAGGVG
INPLLSILRH AADLLREQAN KRNGYEIGTI KLFYSAKNTS ELLFKKNILD LVNEFPEKIA
CSLHVTKQTT QINAELKPYI TEGRITEKEI RDHISKETLF YICGPPPMTD FFSKQLENNH
VPKEHICFEK WW
