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Protein

Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

Gene

PYROXD1

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

Functioni

Involved in cellular response to oxidative stress.1 Publication

Cofactori

FADBy similarityNote: Binds 1 FAD per subunit.By similarity

GO - Molecular functioni

GO - Biological processi

  • cellular response to oxidative stress Source: UniProtKB

Keywordsi

Molecular functionOxidoreductase
LigandFAD, Flavoprotein, NADP

Names & Taxonomyi

Protein namesi
Recommended name:
Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (EC:1.8.1.-)
Gene namesi
Name:PYROXD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000121350.15
HGNCiHGNC:26162 PYROXD1
MIMi617220 gene
neXtProtiNX_Q8WU10

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopathy, myofibrillar, 8 (MFM8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present.
See also OMIM:617258
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077902155N → S in MFM8; decreased function in cellular response to oxidative stress; no effect on subcellular location at nucleus and sarcomere. 1 PublicationCorresponds to variant dbSNP:rs781565158EnsemblClinVar.1
Natural variantiVAR_077903372Q → H in MFM8; decreased function in cellular response to oxidative stress; no effect on subcellular location at nucleus and sarcomere. 1 PublicationCorresponds to variant dbSNP:rs755208949EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Myofibrillar myopathy

Organism-specific databases

DisGeNETi79912
MalaCardsiPYROXD1
MIMi617258 phenotype
OpenTargetsiENSG00000121350
PharmGKBiPA162400525

Polymorphism and mutation databases

BioMutaiPYROXD1
DMDMi74760541

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003274191 – 500Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1Add BLAST500

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8WU10
MaxQBiQ8WU10
PaxDbiQ8WU10
PeptideAtlasiQ8WU10
PRIDEiQ8WU10
ProteomicsDBi74622

PTM databases

iPTMnetiQ8WU10
PhosphoSitePlusiQ8WU10

Expressioni

Gene expression databases

BgeeiENSG00000121350 Expressed in 230 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_PYROXD1
ExpressionAtlasiQ8WU10 baseline and differential
GenevisibleiQ8WU10 HS

Organism-specific databases

HPAiHPA038319
HPA038320

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
UPRTQ96BW16EBI-742933,EBI-742943

Protein-protein interaction databases

BioGridi122992, 8 interactors
IntActiQ8WU10, 1 interactor
STRINGi9606.ENSP00000240651

Structurei

3D structure databases

ProteinModelPortaliQ8WU10
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2755 Eukaryota
ENOG410XZAZ LUCA
GeneTreeiENSGT00390000014894
HOGENOMiHOG000265662
HOVERGENiHBG108313
InParanoidiQ8WU10
OMAiAGDICTA
OrthoDBiEOG091G0DQS
PhylomeDBiQ8WU10
TreeFamiTF105963

Family and domain databases

Gene3Di3.50.50.60, 3 hits
InterProiView protein in InterPro
IPR036188 FAD/NAD-bd_sf
IPR023753 FAD/NAD-binding_dom
PfamiView protein in Pfam
PF07992 Pyr_redox_2, 2 hits
SUPFAMiSSF51905 SSF51905, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q8WU10-1) [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
MEAARPPPTA GKFVVVGGGI AGVTCAEQLA THFPSEDILL VTASPVIKAV
60 70 80 90 100
TNFKQISKIL EEFDVEEQSS TMLGKRFPNI KVIESGVKQL KSEEHCIVTE
110 120 130 140 150
DGNQHVYKKL CLCAGAKPKL ICEGNPYVLG IRDTDSAQEF QKQLTKAKRI
160 170 180 190 200
MIIGNGGIAL ELVYEIEGCE VIWAIKDKAI GNTFFDAGAA EFLTSKLIAE
210 220 230 240 250
KSEAKIAHKR TRYTTEGRKK EARSKSKADN VGSALGPDWH EGLNLKGTKE
260 270 280 290 300
FSHKIHLETM CEVKKIYLQD EFRILKKKSF TFPRDHKSVT ADTEMWPVYV
310 320 330 340 350
ELTNEKIYGC DFIVSATGVT PNVEPFLHGN SFDLGEDGGL KVDDHMHTSL
360 370 380 390 400
PDIYAAGDIC TTSWQLSPVW QQMRLWTQAR QMGWYAAKCM AAASSGDSID
410 420 430 440 450
MDFSFELFAH VTKFFNYKVV LLGKYNAQGL GSDHELMLRC TKGREYIKVV
460 470 480 490 500
MQNGRMMGAV LIGETDLEET FENLILNQMN LSSYGEDLLD PNIDIEDYFD
Length:500
Mass (Da):55,793
Last modified:March 1, 2002 - v1
Checksum:i26F1AA7E09BA885B
GO
Isoform 2 (identifier: Q8WU10-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.

Note: No experimental confirmation available.
Show »
Length:429
Mass (Da):48,338
Checksum:i85297DE2F0154F82
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DEW4B4DEW4_HUMAN
Pyridine nucleotide-disulfide oxido...
PYROXD1
139Annotation score:
B5MDP1B5MDP1_HUMAN
Pyridine nucleotide-disulfide oxido...
PYROXD1
55Annotation score:
H0YGU0H0YGU0_HUMAN
Pyridine nucleotide-disulfide oxido...
PYROXD1
60Annotation score:

Sequence cautioni

The sequence BAB15214 differs from that shown. Reason: Frameshift at position 445.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077902155N → S in MFM8; decreased function in cellular response to oxidative stress; no effect on subcellular location at nucleus and sarcomere. 1 PublicationCorresponds to variant dbSNP:rs781565158EnsemblClinVar.1
Natural variantiVAR_077903372Q → H in MFM8; decreased function in cellular response to oxidative stress; no effect on subcellular location at nucleus and sarcomere. 1 PublicationCorresponds to variant dbSNP:rs755208949EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0558281 – 71Missing in isoform 2. 1 PublicationAdd BLAST71

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025681 mRNA Translation: BAB15214.1 Frameshift.
AK125461 mRNA Translation: BAG54200.1
AL832441 mRNA Translation: CAH10632.1
AC006559 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96428.1
BC021662 mRNA Translation: AAH21662.1
CCDSiCCDS31755.1 [Q8WU10-1]
CCDS86287.1 [Q8WU10-2]
RefSeqiNP_079130.2, NM_024854.3 [Q8WU10-1]
UniGeneiHs.709545

Genome annotation databases

EnsembliENST00000240651; ENSP00000240651; ENSG00000121350 [Q8WU10-1]
ENST00000538582; ENSP00000438505; ENSG00000121350 [Q8WU10-2]
GeneIDi79912
KEGGihsa:79912
UCSCiuc001rew.4 human [Q8WU10-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPYRD1_HUMAN
AccessioniPrimary (citable) accession number: Q8WU10
Secondary accession number(s): A6NKI6, B3KWN8, Q9H6P1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: March 1, 2002
Last modified: September 12, 2018
This is version 144 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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