Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pyroxd1provided by MGI
Official Full Name: pyridine nucleotide-disulphide oxidoreductase domain 1provided by MGI
Primary source: MGI:MGI:2676395
See related: Ensembl:ENSMUSG00000041671 AllianceGenome:MGI:2676395
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable oxidoreductase activity. Predicted to be involved in cellular response to oxidative stress. Located in cytoplasm and nucleus. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in myofibrillar myopathy 8. Orthologous to human PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 5.3), CNS E14 (RPKM 4.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G2; 6 73.9 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (142291381..142307881)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (142345627..142362729)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pyroxd1 role in the proliferation, migration, and differentiation of murine myoblasts.
Title: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

NP_001398550.1

EC 1.8.1.-

NP_001398551.1

EC 1.8.1.-

NP_898988.2

EC 1.8.1.-

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_001411621.1 → NP_001398550.1 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform b

Status: VALIDATED

Source sequence(s)

AC102125
NM_001411622.1 → NP_001398551.1 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform b

Status: VALIDATED

Source sequence(s)

AC102125
NM_183165.4 → NP_898988.2 pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform a

See identical proteins and their annotated locations for NP_898988.2

Status: VALIDATED

Source sequence(s)

AC102125

Consensus CDS

CCDS20681.1

UniProtKB/Swiss-Prot

Q3TMV7, Q3UFM2, Q8R2X5

Related

ENSMUSP00000036394.8, ENSMUST00000041852.8

Conserved Domains (1) summary

pfam07992
Location:76 → 381

Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase