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Protein

FAD-dependent oxidoreductase domain-containing protein 1

Gene

FOXRED1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554).2 Publications

Cofactori

FADBy similarity

GO - Molecular functioni

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110074-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
FAD-dependent oxidoreductase domain-containing protein 1Imported (EC:1.-.-.-)
Gene namesi
Name:FOXRED1Imported
ORF Names:FP634
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26927. FOXRED1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei62 – 82HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial respiratory chain complex I Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073273352R → W in MT-C1D; hypomorphic variant in vitro. 2 PublicationsCorresponds to variant rs387907087dbSNPEnsembl.1
Natural variantiVAR_064571430N → S in MT-C1D; hypomorphic variant in vitro. 2 PublicationsCorresponds to variant rs267606830dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi327Y → A or F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1
Mutagenesisi349Y → A or F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1
Mutagenesisi359Y → A: Not able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1
Mutagenesisi359Y → F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1
Mutagenesisi410Y → A or F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1
Mutagenesisi411Y → A or F: No effect. Able to restore complex I assembly when expressed in cells lacking FOXRED1. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55572.
MalaCardsiFOXRED1.
MIMi252010. phenotype.
OpenTargetsiENSG00000110074.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA143485473.

Polymorphism and mutation databases

BioMutaiFOXRED1.
DMDMi124007188.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002741421 – 486FAD-dependent oxidoreductase domain-containing protein 1Add BLAST486

Proteomic databases

EPDiQ96CU9.
MaxQBiQ96CU9.
PaxDbiQ96CU9.
PeptideAtlasiQ96CU9.
PRIDEiQ96CU9.

PTM databases

iPTMnetiQ96CU9.
PhosphoSitePlusiQ96CU9.

Expressioni

Gene expression databases

BgeeiENSG00000110074.
CleanExiHS_FOXRED1.
ExpressionAtlasiQ96CU9. baseline and differential.
GenevisibleiQ96CU9. HS.

Organism-specific databases

HPAiHPA039620.
HPA046192.

Interactioni

Subunit structurei

Associates with components of the mitochondrial respiratory chain complex I.1 Publication

Protein-protein interaction databases

BioGridi120725. 22 interactors.
IntActiQ96CU9. 4 interactors.
MINTiMINT-3051733.
STRINGi9606.ENSP00000263578.

Structurei

3D structure databases

ProteinModelPortaliQ96CU9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2853. Eukaryota.
ENOG410XNXW. LUCA.
GeneTreeiENSGT00390000006114.
HOGENOMiHOG000042035.
HOVERGENiHBG081543.
InParanoidiQ96CU9.
KOiK18166.
OMAiQRQEGAK.
OrthoDBiEOG091G04SA.
PhylomeDBiQ96CU9.
TreeFamiTF314003.

Family and domain databases

Gene3Di3.50.50.60. 3 hits.
InterProiIPR006076. FAD-dep_OxRdtase.
IPR023753. FAD/NAD-binding_dom.
[Graphical view]
PfamiPF01266. DAO. 1 hit.
[Graphical view]
SUPFAMiSSF51905. SSF51905. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96CU9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MIRRVLPHGM GRGLLTRRPG TRRGGFSLDW DGKVSEIKKK IKSILPGRSC
60 70 80 90 100
DLLQDTSHLP PEHSDVVIVG GGVLGLSVAY WLKKLESRRG AIRVLVVERD
110 120 130 140 150
HTYSQASTGL SVGGICQQFS LPENIQLSLF SASFLRNINE YLAVVDAPPL
160 170 180 190 200
DLRFNPSGYL LLASEKDAAA MESNVKVQRQ EGAKVSLMSP DQLRNKFPWI
210 220 230 240 250
NTEGVALASY GMEDEGWFDP WCLLQGLRRK VQSLGVLFCQ GEVTRFVSSS
260 270 280 290 300
QRMLTTDDKA VVLKRIHEVH VKMDRSLEYQ PVECAIVINA AGAWSAQIAA
310 320 330 340 350
LAGVGEGPPG TLQGTKLPVE PRKRYVYVWH CPQGPGLETP LVADTSGAYF
360 370 380 390 400
RREGLGSNYL GGRSPTEQEE PDPANLEVDH DFFQDKVWPH LALRVPAFET
410 420 430 440 450
LKVQSAWAGY YDYNTFDQNG VVGPHPLVVN MYFATGFSGH GLQQAPGIGR
460 470 480
AVAEMVLKGR FQTIDLSPFL FTRFYLGEKI QENNII
Length:486
Mass (Da):53,812
Last modified:January 23, 2007 - v2
Checksum:i34A18ABED84BE676
GO
Isoform 2 (identifier: Q96CU9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-211: Missing.

Note: No experimental confirmation available.
Show »
Length:275
Mass (Da):30,659
Checksum:iE61D848FAD86F9AA
GO
Isoform 3 (identifier: Q96CU9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: MIRRVLPHGMGRGLLTRRPGTRRGGFSL → MAHTGRTVGRLGEG

Note: No experimental confirmation available.
Show »
Length:472
Mass (Da):52,104
Checksum:iA847ADF8D55286D1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti425H → HF in AAQ04652 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033856145V → I.Corresponds to variant rs34542988dbSNPEnsembl.1
Natural variantiVAR_030192343A → P.1 PublicationCorresponds to variant rs17855445dbSNPEnsembl.1
Natural variantiVAR_073273352R → W in MT-C1D; hypomorphic variant in vitro. 2 PublicationsCorresponds to variant rs387907087dbSNPEnsembl.1
Natural variantiVAR_051003380H → R.Corresponds to variant rs7116126dbSNPEnsembl.1
Natural variantiVAR_064571430N → S in MT-C1D; hypomorphic variant in vitro. 2 PublicationsCorresponds to variant rs267606830dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0226291 – 211Missing in isoform 2. 1 PublicationAdd BLAST211
Alternative sequenceiVSP_0390031 – 28MIRRV…GGFSL → MAHTGRTVGRLGEG in isoform 3. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF103801 mRNA. Translation: AAF02421.1.
AL136923 mRNA. Translation: CAB66857.1.
AF447877 mRNA. Translation: AAQ04652.1.
AK023987 mRNA. Translation: BAG51246.1.
AK295267 mRNA. Translation: BAG58254.1.
CH471065 Genomic DNA. Translation: EAW67683.1.
BC002910 mRNA. Translation: AAH02910.2.
BC013902 mRNA. Translation: AAH13902.1.
CCDSiCCDS8471.1. [Q96CU9-1]
RefSeqiNP_060017.1. NM_017547.3. [Q96CU9-1]
XP_006718944.1. XM_006718881.3. [Q96CU9-2]
XP_016873492.1. XM_017018003.1. [Q96CU9-2]
XP_016873493.1. XM_017018004.1. [Q96CU9-2]
XP_016873494.1. XM_017018005.1. [Q96CU9-2]
UniGeneiHs.317190.

Genome annotation databases

EnsembliENST00000263578; ENSP00000263578; ENSG00000110074. [Q96CU9-1]
ENST00000532125; ENSP00000434178; ENSG00000110074. [Q96CU9-3]
GeneIDi55572.
KEGGihsa:55572.
UCSCiuc001qdi.4. human. [Q96CU9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF103801 mRNA. Translation: AAF02421.1.
AL136923 mRNA. Translation: CAB66857.1.
AF447877 mRNA. Translation: AAQ04652.1.
AK023987 mRNA. Translation: BAG51246.1.
AK295267 mRNA. Translation: BAG58254.1.
CH471065 Genomic DNA. Translation: EAW67683.1.
BC002910 mRNA. Translation: AAH02910.2.
BC013902 mRNA. Translation: AAH13902.1.
CCDSiCCDS8471.1. [Q96CU9-1]
RefSeqiNP_060017.1. NM_017547.3. [Q96CU9-1]
XP_006718944.1. XM_006718881.3. [Q96CU9-2]
XP_016873492.1. XM_017018003.1. [Q96CU9-2]
XP_016873493.1. XM_017018004.1. [Q96CU9-2]
XP_016873494.1. XM_017018005.1. [Q96CU9-2]
UniGeneiHs.317190.

3D structure databases

ProteinModelPortaliQ96CU9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120725. 22 interactors.
IntActiQ96CU9. 4 interactors.
MINTiMINT-3051733.
STRINGi9606.ENSP00000263578.

PTM databases

iPTMnetiQ96CU9.
PhosphoSitePlusiQ96CU9.

Polymorphism and mutation databases

BioMutaiFOXRED1.
DMDMi124007188.

Proteomic databases

EPDiQ96CU9.
MaxQBiQ96CU9.
PaxDbiQ96CU9.
PeptideAtlasiQ96CU9.
PRIDEiQ96CU9.

Protocols and materials databases

DNASUi55572.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263578; ENSP00000263578; ENSG00000110074. [Q96CU9-1]
ENST00000532125; ENSP00000434178; ENSG00000110074. [Q96CU9-3]
GeneIDi55572.
KEGGihsa:55572.
UCSCiuc001qdi.4. human. [Q96CU9-1]

Organism-specific databases

CTDi55572.
DisGeNETi55572.
GeneCardsiFOXRED1.
HGNCiHGNC:26927. FOXRED1.
HPAiHPA039620.
HPA046192.
MalaCardsiFOXRED1.
MIMi252010. phenotype.
613622. gene.
neXtProtiNX_Q96CU9.
OpenTargetsiENSG00000110074.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA143485473.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2853. Eukaryota.
ENOG410XNXW. LUCA.
GeneTreeiENSGT00390000006114.
HOGENOMiHOG000042035.
HOVERGENiHBG081543.
InParanoidiQ96CU9.
KOiK18166.
OMAiQRQEGAK.
OrthoDBiEOG091G04SA.
PhylomeDBiQ96CU9.
TreeFamiTF314003.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110074-MONOMER.

Miscellaneous databases

ChiTaRSiFOXRED1. human.
GeneWikiiFOXRED1.
GenomeRNAii55572.
PROiQ96CU9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110074.
CleanExiHS_FOXRED1.
ExpressionAtlasiQ96CU9. baseline and differential.
GenevisibleiQ96CU9. HS.

Family and domain databases

Gene3Di3.50.50.60. 3 hits.
InterProiIPR006076. FAD-dep_OxRdtase.
IPR023753. FAD/NAD-binding_dom.
[Graphical view]
PfamiPF01266. DAO. 1 hit.
[Graphical view]
SUPFAMiSSF51905. SSF51905. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiFXRD1_HUMAN
AccessioniPrimary (citable) accession number: Q96CU9
Secondary accession number(s): B3KN84
, B4DHU2, Q71MG0, Q9BU39, Q9UKY9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.