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

    Gene ID: 79912, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:26162
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PYROXD1 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21437655..21471250)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21316354..21349929)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21590589..21624184)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1B1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:21386467-21387666 Neighboring gene uncharacterized LOC124902895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21402494-21402994 Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21477387-21477904 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21491840-21492346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21546997-21547930 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21547931-21548862 Neighboring gene islet amyloid polypeptide Neighboring gene NANOG hESC enhancer GRCh37_chr12:21569666-21570167 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21572391-21572952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6086 Neighboring gene elongin C pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21654373-21655080 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21655081-21655788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6092 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:21663989-21664186 Neighboring gene RecQ like helicase Neighboring gene golgi transport 1B Neighboring gene spexin hormone Neighboring gene glycogen synthase 2

    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

    Clone Names

    • FLJ22028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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
    XP_047285510.1
    XP_054229225.1
    XP_054229226.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A6NKI6, B3KWN8, Q8WU10, Q9H6P1
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      21437655..21471250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429554.1XP_047285510.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X1

    2. XM_006719153.4XP_006719216.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X2

      Conserved Domains (1) summary
      cl21454
      Location:95166
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_017019976.3XP_016875465.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      21316354..21349929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373250.1XP_054229225.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X1

    2. XM_054373251.1XP_054229226.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X2