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MMAA metabolism of cobalamin associated A [ Homo sapiens (human) ]

Gene ID: 166785, updated on 23-Apr-2019

Summary

Official Symbol
MMAAprovided by HGNC
Official Full Name
metabolism of cobalamin associated Aprovided by HGNC
Primary source
HGNC:HGNC:18871
See related
Ensembl:ENSG00000151611 MIM:607481
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
cblA
Summary
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 3.7), kidney (RPKM 2.7) and 25 other tissues See more
Orthologs

Genomic context

See MMAA in Genome Data Viewer
Location:
4q31.21
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (145619388..145660035)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146540540..146581187)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC285422 Neighboring gene long intergenic non-protein coding RNA 2491 Neighboring gene nuclear receptor coactivator 4 pseudogene 3 Neighboring gene chromosome 4 open reading frame 51 Neighboring gene zinc finger protein 827 Neighboring gene uncharacterized LOC105377468

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystem (from REACTOME)
    Defective MMAA causes methylmalonic aciduria type cblA, organism-specific biosystemDefects in MMAA cause methylmalonic aciduria type cblA (cblA aka methylmalonic aciduria type A or vitamin B12-responsive methylmalonic aciduria of cblA complementation type; MIM:251100). Affected ind...
  • Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystem (from REACTOME)
    Defective MUT causes methylmalonic aciduria mut type, organism-specific biosystemDefects in MUT cause methylmalonic aciduria, mut type (MMAM; MIM:251000), an often fatal disorder of organic acid metabolism (Worgan et al. 2006).
  • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
    Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
  • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
    Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystem (from REACTOME)
    Mitochondrial Fatty Acid Beta-Oxidation, organism-specific biosystemBeta-oxidation begins once fatty acids have been imported into the mitochondrial matrix by carnitine acyltransferases. The beta-oxidation spiral of fatty acids metabolism involves the repetitive remo...
  • Propionyl-CoA catabolism, organism-specific biosystem (from REACTOME)
    Propionyl-CoA catabolism, organism-specific biosystemPropionyl-CoA is a product of the catabolism of the amino acids, leucine, methionine, and threonine, and of the beta-oxidation of fatty acids with odd numbers of carbon atoms. The three reactions of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120010, MGC120011, MGC120012, MGC120013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cobalamin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
PubMed 
short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
methylmalonic aciduria type A protein, mitochondrial
Names
methylmalonic aciduria (cobalamin deficiency) cblA type
mutant adenosylcobalamin

NCBI Reference Sequences (RefSeq)

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_007536.2 RefSeqGene

    Range
    25344..65992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_172250.3NP_758454.1  methylmalonic aciduria type A protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_758454.1

    Status: REVIEWED

    Source sequence(s)
    AC093864, AK126662
    Consensus CDS
    CCDS3766.1
    UniProtKB/Swiss-Prot
    Q8IVH4
    Related
    ENSP00000497008.1, ENST00000649156.2
    Conserved Domains (1) summary
    PRK09435
    Location:86418
    PRK09435; membrane ATPase/protein kinase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    145619388..145660035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531685.2XP_011529987.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011529987.1

    UniProtKB/Swiss-Prot
    Q8IVH4
    Related
    ENSP00000497046.1, ENST00000648388.1
    Conserved Domains (1) summary
    PRK09435
    Location:86418
    PRK09435; membrane ATPase/protein kinase; Provisional
  2. XM_011531684.3XP_011529986.1  methylmalonic aciduria type A protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011529986.1

    UniProtKB/Swiss-Prot
    Q8IVH4
    Related
    ENSP00000497680.1, ENST00000649704.1
    Conserved Domains (1) summary
    PRK09435
    Location:86418
    PRK09435; membrane ATPase/protein kinase; Provisional
  3. XM_011531686.2XP_011529988.1  methylmalonic aciduria type A protein, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl21455
    Location:1253
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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