Mmab metabolism of cobalamin associated B [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mmabprovided by RGD
Official Full Name: metabolism of cobalamin associated Bprovided by RGD
Primary source: RGD:1596242
See related: Ensembl:ENSRNOG00000049426 AllianceGenome:RGD:1596242
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
Summary: Predicted to enable cob(I)yrinic acid a,c-diamide adenosyltransferase activity and cobalamin binding activity. Human ortholog(s) of this gene implicated in inherited metabolic disorder and methylmalonic acidemia cblB type. Orthologous to human MMAB (metabolism of cobalamin associated B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Heart (RPKM 26.3), Muscle (RPKM 21.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 12q16

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	12	NC_086030.1 (47819757..47833127)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	12	NC_051347.1 (42159109..42172518)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	12	NC_005111.4 (47920712..47935438)

Chromosome 12 - NC_086030.1 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: 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?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cobalamin binding	ISO Inferred from Sequence Orthology more info
enables corrinoid adenosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables corrinoid adenosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity, transferring alkyl or aryl (other than methyl) groups	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cobalamin metabolic process	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: corrinoid adenosyltransferase MMAB

Names: cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; corrinoid adenosyltransferase; methylmalonic aciduria (cobalamin deficiency) cblB type; methylmalonic aciduria (cobalamin deficiency) type B homolog

NP_001385866.1

EC 2.5.1.17

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_001398937.2 → NP_001385866.1 corrinoid adenosyltransferase MMAB

Status: VALIDATED

Source sequence(s)

JAXUCZ010000012

UniProtKB/TrEMBL

M0R959

Related

ENSRNOP00000066021.1, ENSRNOT00000072511.4

Conserved Domains (1) summary

pfam01923
Location:53 → 221

Cob_adeno_trans; Cobalamin adenosyltransferase