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MMAB methylmalonic aciduria (cobalamin deficiency) cblB type [ Homo sapiens (human) ]

Gene ID: 326625, updated on 8-May-2016
Official Symbol
MMABprovided by HGNC
Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblB typeprovided by HGNC
Primary source
HGNC:HGNC:19331
See related
Ensembl:ENSG00000139428 HPRD:07398; MIM:607568; Vega:OTTHUMG00000169255
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
ATR; cob; cblB; CFAP23
Summary
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Orthologs
Location:
12q24
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (109553715..109573553, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109991520..110011358, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin IH Neighboring gene potassium channel tetramerization domain containing 10 Neighboring gene ubiquitin protein ligase E3B Neighboring gene mevalonate kinase Neighboring gene FAM222A antisense RNA 1 Neighboring gene family with sequence similarity 222 member A Neighboring gene transient receptor potential cation channel subfamily V member 4 Neighboring gene microRNA 4497

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Methylmalonic aciduria cblB type Compare labs

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC20496

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cob(I)yrinic acid a,c-diamide adenosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
cob(I)yrinic acid a,c-diamide adenosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cobalamin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
Names
ATP:cob(I)alamin adenosyltransferase
ATP:corrinoid adenosyltransferase
aquocob(I)alamin vitamin B12s adenosyltransferase
cilia and flagella associated protein 23
methylmalonic aciduria type B protein
NP_443077.1

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_007096.1 RefSeqGene

    Range
    4945..24783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_052845.3NP_443077.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_443077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AC007570, BC011831, BI497024, DA718661
    Consensus CDS
    CCDS9131.1
    UniProtKB/Swiss-Prot
    Q96EY8
    Related
    ENSP00000445920, OTTHUMP00000240563, ENST00000545712, OTTHUMT00000403128
    Conserved Domains (1) summary
    pfam01923
    Location:58228
    Cob_adeno_trans; Cobalamin adenosyltransferase

RNA

  1. NR_038118.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the CDS, which includes a premature stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and will not make a functional protein.
    Source sequence(s)
    AC007570, BC011831, BI497024, DA718661

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    109553715..109573553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538267.1XP_011536569.1  

    See identical proteins and their annotated locations for XP_011536569.1

  2. XM_011538266.1XP_011536568.1  

    See identical proteins and their annotated locations for XP_011536568.1

  3. XM_011538269.1XP_011536571.1  

    Conserved Domains (1) summary
    pfam01923
    Location:5136
    Cob_adeno_trans; Cobalamin adenosyltransferase
  4. XM_011538268.1XP_011536570.1  

    Conserved Domains (1) summary
    pfam01923
    Location:20137
    Cob_adeno_trans; Cobalamin adenosyltransferase

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    109959372..109979210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)