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PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 [ Homo sapiens (human) ]

Gene ID: 79912, updated on 24-Nov-2020

Summary

Official Symbol
PYROXD1provided by HGNC
Official Full Name
pyridine nucleotide-disulphide oxidoreductase domain 1provided by HGNC
Primary source
HGNC:HGNC:26162
See related
Ensembl:ENSG00000121350 MIM:617220
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
MFM8
Summary
This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in thyroid (RPKM 12.4), lymph node (RPKM 11.0) and 25 other tissues See more
Orthologs

Genomic context

See PYROXD1 in Genome Data Viewer
Location:
12p12.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (21437630..21471250)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21590538..21624184)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1B1 Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene islet amyloid polypeptide Neighboring gene elongin C pseudogene 31 Neighboring gene RecQ like helicase Neighboring gene golgi transport 1B Neighboring gene glycogen synthase 2 Neighboring gene spexin hormone

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22028

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1
NP_001337841.1
NP_001337842.1
NP_079130.2
XP_006719216.1
XP_016875465.1

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.

Genomic

  1. NG_053196.1 RefSeqGene

    Range
    5052..38647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350912.2NP_001337841.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC006559, AK125461
    Consensus CDS
    CCDS86287.1
    Related
    ENSP00000438505.1, ENST00000538582.5
    Conserved Domains (2) summary
    cl26176
    Location:229423
    NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
    cl26177
    Location:12312
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
  2. NM_001350913.2NP_001337842.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC006559
    Conserved Domains (1) summary
    cl26176
    Location:51235
    NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
  3. NM_024854.5NP_079130.2  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_079130.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC006559, AL832441, BM980368, DB041552
    Consensus CDS
    CCDS31755.1
    UniProtKB/Swiss-Prot
    Q8WU10
    Related
    ENSP00000240651.9, ENST00000240651.14
    Conserved Domains (2) summary
    cl26176
    Location:300494
    NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]
    cl26177
    Location:24383
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    21437630..21471250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719153.3XP_006719216.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    cl21454
    Location:95166
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  2. XM_017019976.2XP_016875465.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X2

RNA

  1. XR_242902.4 RNA Sequence

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