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mmut methylmalonyl CoA mutase [ Danio rerio (zebrafish) ]

Gene ID: 569581, updated on 27-Mar-2024

Summary

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Official Symbol
mmutprovided by ZNC
Official Full Name
methylmalonyl CoA mutaseprovided by ZNC
Primary source
ZFIN:ZDB-GENE-010430-3
See related
Ensembl:ENSDARG00000060554 AllianceGenome:ZFIN:ZDB-GENE-010430-3
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
mut
Summary
Predicted to enable methylmalonyl-CoA mutase activity. Predicted to be active in mitochondrion. Used to study methylmalonic acidemia. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
human mouse all
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Genomic context

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See mmut in Genome Data Viewer
Location:
chromosome: 20
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCz11 (GCF_000002035.6) 20 NC_007131.7 (44372745..44460779, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 20 NC_007131.6 (44474739..44562773, complement)

Chromosome 20 - NC_007131.7Genomic Context describing neighboring genes Neighboring gene opsin 8, group member a Neighboring gene opsin 8, group member b Neighboring gene FKBP prolyl isomerase 1B Neighboring gene WD repeat and coiled coil containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. Luciani A, et al. Nat Commun, 2020 Feb 20. PMID 32080200, Free PMC Article
  2. Expressed sequence tag analysis of expression profiles of zebrafish testis and ovary. Zeng S, et al. Gene, 2002 Jul 10. PMID 12234666
  3. Hematopoietic gene expression profile in zebrafish kidney marrow. Song HD, et al. Proc Natl Acad Sci U S A, 2004 Nov 16. PMID 15520368, Free PMC Article
  4. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
  5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Clone Names

  • MGC162238

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables cobalamin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cobalamin binding IEA
Inferred from Electronic Annotation
more info
  
enables intramolecular transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylmalonyl-CoA mutase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylmalonyl-CoA mutase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in propionate metabolic process, methylmalonyl pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sulfur compound metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl Coenzyme A mutase
NP_001092696.1
XP_021324178.1

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)

  1. NM_001099226.1 → NP_001092696.1  methylmalonyl-CoA mutase, mitochondrial

    See identical proteins and their annotated locations for NP_001092696.1

    Status: PROVISIONAL

    Source sequence(s)
    BC139860
    UniProtKB/TrEMBL
    A0A8M1NEZ5, A5D6S3
    Related
    ENSDARP00000079877.4, ENSDART00000085442.5
    Conserved Domains (1) summary
    PRK09426
    Location:50 → 751
    PRK09426; methylmalonyl-CoA mutase; Reviewed

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007131.7 Reference GRCz11 Primary Assembly

    Range
    44372745..44460779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021468503.1 → XP_021324178.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A8M1NEZ5, A5D6S3
    Conserved Domains (1) summary
    PRK09426
    Location:50 → 751
    PRK09426; methylmalonyl-CoA mutase; Reviewed
Nucleotide Protein
Heading Accession and Version

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