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MMAA methylmalonic aciduria (cobalamin deficiency) cblA type [ Homo sapiens (human) ]

Gene ID: 166785, updated on 12-Dec-2014
Official Symbol
MMAAprovided by HGNC
Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblA typeprovided by HGNC
Primary source
HGNC:HGNC:18871
See related
Ensembl:ENSG00000151611; HPRD:07394; MIM:607481; Vega:OTTHUMG00000161369
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]
See MMAA in Epigenomics, MapViewer
Location:
4q31.21
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 5E5 antigen-like Neighboring gene SMAD1 antisense RNA 2 Neighboring gene SMAD family member 1 Neighboring gene nuclear receptor coactivator 4 pseudogene Neighboring gene chromosome 4 open reading frame 51 Neighboring gene zinc finger protein 827

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC120010, MGC120011, MGC120012, MGC120013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cobalamin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
short-chain fatty acid catabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
methylmalonic aciduria type A protein, mitochondrial
Names
methylmalonic aciduria type A protein, mitochondrial

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_007536.1 

    Range
    5091..45738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_172250.2NP_758454.1  methylmalonic aciduria type A protein, mitochondrial precursor

    See proteins identical to NP_758454.1

    Status: REVIEWED

    Source sequence(s)
    AC093864, AK126662
    Consensus CDS
    CCDS3766.1
    UniProtKB/Swiss-Prot
    Q8IVH4
    Related
    ENSP00000281317, OTTHUMP00000220104, ENST00000281317, OTTHUMT00000364668
    Conserved Domains (2) summary
    COG1703
    Location:86415
    ArgK; Putative periplasmic protein kinase ArgK and related GTPases of G3E family [Amino acid transport and metabolism]
    cd03114
    Location:145292
    ArgK-like; The function of this protein family is unkown. The protein sequences are similar to the ArgK protein in E. coli. ArgK protein is a membrane ATPase which is required for transporting arginine, ornithine and lysine into the cells by the arginine and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

mRNA and Protein(s)

  1. XM_006714118.1XP_006714181.1  

    See proteins identical to XP_006714181.1

    UniProtKB/Swiss-Prot
    Q8IVH4
    Conserved Domains (2) summary
    COG1703
    Location:86415
    ArgK; Putative periplasmic protein kinase ArgK and related GTPases of G3E family [Amino acid transport and metabolism]
    cd03114
    Location:145292
    ArgK-like; The function of this protein family is unkown. The protein sequences are similar to the ArgK protein in E. coli. ArgK protein is a membrane ATPase which is required for transporting arginine, ornithine and lysine into the cells by the arginine and ...

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    146517133..146557773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    142270497..142311145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)