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

Gene ID: 166785, updated on 1-Jun-2020

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:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (145619385..145660033)
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 Functions

What's a GeneRIF?

Pathways from PubChem

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 
identical protein binding IPI
Inferred from Physical Interaction
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 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_001375644.1NP_001362573.1  methylmalonic aciduria type A protein, mitochondrial precursor

    Status: REVIEWED

    Source sequence(s)
    AC093864
    Related
    ENSP00000497046.1, ENST00000648388.1
  2. 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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    145619385..145660033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
  2. 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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