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NDOR1 NADPH dependent diflavin oxidoreductase 1 [ Homo sapiens (human) ]

Gene ID: 27158, updated on 12-Oct-2019

Summary

Official Symbol
NDOR1provided by HGNC
Official Full Name
NADPH dependent diflavin oxidoreductase 1provided by HGNC
Primary source
HGNC:HGNC:29838
See related
Ensembl:ENSG00000188566 MIM:606073
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NR1; CIAE1; bA350O14.9
Summary
This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in testis (RPKM 6.1), bone marrow (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See NDOR1 in Genome Data Viewer
Location:
9q34.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137205667..137219361)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140100119..140113813)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene taperin Neighboring gene transmembrane protein 203 Neighboring gene ring finger protein 208 Neighboring gene cysteine rich tail 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
    Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138148

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FMN binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FMN binding IDA
Inferred from Direct Assay
more info
PubMed 
NADP binding IDA
Inferred from Direct Assay
more info
PubMed 
NADPH-hemoprotein reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell death IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to menadione IDA
Inferred from Direct Assay
more info
PubMed 
iron-sulfur cluster assembly IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NADPH-dependent diflavin oxidoreductase 1
Names
NADPH-dependent FMN and FAD-containing oxidoreductase
NP_001137498.1
NP_001137499.1
NP_001137500.1
NP_055249.1
XP_011516847.1
XP_011516849.1
XP_011516850.1
XP_016870115.1
XP_016870116.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001144026.3NP_001137498.1  NADPH-dependent diflavin oxidoreductase 1 isoform a

    See identical proteins and their annotated locations for NP_001137498.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AY077845, BX255925, DA858250, KF458948
    Consensus CDS
    CCDS48061.1
    UniProtKB/Swiss-Prot
    Q9UHB4
    Related
    ENSP00000360576.4, ENST00000371521.8
    Conserved Domains (3) summary
    COG0369
    Location:3605
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:8145
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:212605
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...
  2. NM_001144027.3NP_001137499.1  NADPH-dependent diflavin oxidoreductase 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' coding region, and uses two alternate splice sites in the 3' coding region, that cause a frameshift. This results in a shorter isoform (d) with a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK074403, BX255925, DA408370, KF458948
    Consensus CDS
    CCDS48063.1
    UniProtKB/Swiss-Prot
    Q9UHB4
    Related
    ENSP00000394309.1, ENST00000427047.6
    Conserved Domains (3) summary
    COG0369
    Location:3509
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:8139
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:178509
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...
  3. NM_001144028.3NP_001137500.1  NADPH-dependent diflavin oxidoreductase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform c, which is shorter than isoform a.
    Source sequence(s)
    BC143229, BX255925, DA858250, KF458948
    Consensus CDS
    CCDS48062.1
    UniProtKB/Swiss-Prot
    Q9UHB4
    Related
    ENSP00000389905.1, ENST00000458322.2
    Conserved Domains (3) summary
    COG0369
    Location:3589
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:8145
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:212589
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...
  4. NM_014434.3NP_055249.1  NADPH-dependent diflavin oxidoreductase 1 isoform b

    See identical proteins and their annotated locations for NP_055249.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    BC015735, BX255925, DA858250, KF458948
    Consensus CDS
    CCDS7036.1
    UniProtKB/Swiss-Prot
    Q9UHB4
    Related
    ENSP00000343344.5, ENST00000344894.10
    Conserved Domains (3) summary
    COG0369
    Location:3596
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:8145
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:212596
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    137205667..137219361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014627.1XP_016870116.1  NADPH-dependent diflavin oxidoreductase 1 isoform X3

  2. XM_017014626.1XP_016870115.1  NADPH-dependent diflavin oxidoreductase 1 isoform X2

  3. XM_011518545.1XP_011516847.1  NADPH-dependent diflavin oxidoreductase 1 isoform X1

    Conserved Domains (3) summary
    COG0369
    Location:3571
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:8139
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:178571
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...
  4. XM_011518548.2XP_011516850.1  NADPH-dependent diflavin oxidoreductase 1 isoform X5

    Conserved Domains (2) summary
    COG0369
    Location:13331
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    cl06868
    Location:2331
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...
  5. XM_011518547.1XP_011516849.1  NADPH-dependent diflavin oxidoreductase 1 isoform X4

    Conserved Domains (3) summary
    COG0369
    Location:1536
    CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]
    pfam00258
    Location:176
    Flavodoxin_1; Flavodoxin
    cl06868
    Location:143536
    FNR_like; Ferredoxin reductase (FNR), an FAD and NAD(P) binding protein, was intially identified as a chloroplast reductase activity, catalyzing the electron transfer from reduced iron-sulfur protein ferredoxin to NADP+ as the final step in the electron transport ...

RNA

  1. XR_001746272.1 RNA Sequence

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