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

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; AllianceGenome:HGNC:29838
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: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137205700..137219361)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149443371..149457030)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140100152..140113813)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the molecular basis of recognition between Ndor1 and anamorsin and of the electron transfer process, was investigated.
Title: Molecular view of an electron transfer process essential for iron-sulfur protein biogenesis.
Data show that that all seven currently known NMDAR subunits (NR1, NR2A, NR2B, NR2C, NR2D, NR3A and NR3B) are expressed in astrocytes, but at different levels.
Title: Characterisation of the expression of NMDA receptors in human astrocytes.
characterized in detail the redox and electron transfer properties of the component flavin-binding domains of protein NR1
Title: Determination of the redox potentials and electron transfer properties of the FAD- and FMN-binding domains of the human oxidoreductase NR1.
NR1 may represent a minor pathway in the cell for redox regulation of methionine synthase
Title: Redundancy in the pathway for redox regulation of mammalian methionine synthase: reductive activation by the dual flavoprotein, novel reductase 1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18280 (e-PCR)
- UniSTS:39738

RH102253 (e-PCR)
- UniSTS:96587

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FAD binding	IDA Inferred from Direct Assay more info	PubMed
enables FMN binding	IBA Inferred from Biological aspect of Ancestor more info
enables FMN binding	IDA Inferred from Direct Assay more info	PubMed
enables NADP binding	IDA Inferred from Direct Assay more info	PubMed
enables NADPH binding	IDA Inferred from Direct Assay more info	PubMed
enables NADPH-hemoprotein reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables electron transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in electron transport chain	IDA Inferred from Direct Assay more info	PubMed
involved_in iron-sulfur cluster assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NADPH-dependent diflavin oxidoreductase 1

Names: NADPH-dependent FMN and FAD-containing oxidoreductase

NP_001137498.1

EC 1.6.-.-

NP_001137499.1

EC 1.6.-.-

NP_001137500.1

EC 1.6.-.-

NP_055249.1

EC 1.6.-.-

NCBI Reference Sequences (RefSeq)

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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)

NM_001144026.3 → NP_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:3 → 605

CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]

pfam00258
Location:8 → 145

Flavodoxin_1; Flavodoxin

cl06868
Location:212 → 605

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 ...
NM_001144027.3 → NP_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:3 → 509

CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]

pfam00258
Location:8 → 139

Flavodoxin_1; Flavodoxin

cl06868
Location:178 → 509

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 ...
NM_001144028.3 → NP_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:3 → 589

CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]

pfam00258
Location:8 → 145

Flavodoxin_1; Flavodoxin

cl06868
Location:212 → 589

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 ...
NM_014434.4 → NP_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

D3YTG6, D3YTH9, Q5VSG4, Q86US9, Q96BC6, Q9UHB4

Related

ENSP00000507194.1, ENST00000684003.1

Conserved Domains (3) summary

COG0369
Location:3 → 596

CysJ; Sulfite reductase, alpha subunit (flavoprotein) [Inorganic ion transport and metabolism]

pfam00258
Location:8 → 145

Flavodoxin_1; Flavodoxin

cl06868
Location:212 → 596

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 ...