Mmut methylmalonyl-CoA mutase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mmutprovided by RGD
Official Full Name: methylmalonyl-CoA mutaseprovided by RGD
Primary source: RGD:1587662
See related: EnsemblRapid:ENSRNOG00000050843 AllianceGenome:RGD:1587662
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Mut
Summary: Predicted to enable several functions, including cobalamin binding activity; methylmalonyl-CoA mutase activity; and protein homodimerization activity. Predicted to be involved in carboxylic acid metabolic process; positive regulation of GTPase activity; and succinyl-CoA biosynthetic process. Predicted to act upstream of or within post-embryonic development. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. 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, Nov 2024]
Expression: Biased expression in Kidney (RPKM 475.9), Liver (RPKM 419.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q13

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (27425935..27454202, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (19928720..19956985, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (23323934..23352144, complement)

Chromosome 9 - NC_086027.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Methylmalonyl-CoA mutase and PCCA show a much higher expression level in the entire CNS than in the liver, suggesting a different, but important function of this pathway during brain development.
Title: Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables GTPase activity	ISO Inferred from Sequence Orthology more info
enables cobalamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cobalamin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables modified amino acid binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in homocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	ISO Inferred from Sequence Orthology more info
involved_in propionate metabolic process, methylmalonyl pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in succinyl-CoA biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: methylmalonyl-CoA mutase, mitochondrial

Names: methylmalonyl-Coenzyme A mutase; rCG43751-like

NP_001386338.1

EC 5.4.99.2

XP_038940433.1

EC 5.4.99.2

XP_038940434.1

EC 5.4.99.2

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_001399409.1 → NP_001386338.1 methylmalonyl-CoA mutase, mitochondrial

Status: VALIDATED

Source sequence(s)

JAXUCZ010000009

UniProtKB/TrEMBL

A6JJ55

Related

ENSRNOP00000064363.2, ENSRNOT00000075279.4

Conserved Domains (1) summary

PRK09426
Location:39 → 743

PRK09426; methylmalonyl-CoA mutase; Reviewed

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086027.1 Reference GRCr8

Range

27425935..27454202 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039084505.2 → XP_038940433.1 methylmalonyl-CoA mutase, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A8I6A0B2, A6JJ55

Conserved Domains (1) summary

PRK09426
Location:39 → 743

PRK09426; methylmalonyl-CoA mutase; Reviewed
XM_039084506.2 → XP_038940434.1 methylmalonyl-CoA mutase, mitochondrial isoform X2

Conserved Domains (1) summary

cd03679
Location:38 → 572

MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...