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MMAB metabolism of cobalamin associated B [ Homo sapiens (human) ]

Gene ID: 326625, updated on 3-Mar-2019

Summary

Official Symbol
MMABprovided by HGNC
Official Full Name
metabolism of cobalamin associated Bprovided by HGNC
Primary source
HGNC:HGNC:19331
See related
Ensembl:ENSG00000139428 MIM:607568
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]
Expression
Ubiquitous expression in liver (RPKM 6.8), adrenal (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See MMAB in Genome Data Viewer
Location:
12q24.11
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (109553715..109573580, 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 RNA, U4 small nuclear 32, pseudogene Neighboring gene mevalonate kinase Neighboring gene RNA, 7SK small nuclear pseudogene 250 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene FAM222A antisense RNA 1 Neighboring gene family with sequence similarity 222 member A

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?

Phenotypes

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
cobalamin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
corrinoid adenosyltransferase; 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
cob(II)alamin adenosyltransferase
cob(II)yrinic acid a,c-diamide adenosyltransferase
cobinamide/cobalamin adenosyltransferase
methylmalonic aciduria (cobalamin deficiency) cblB type
methylmalonic aciduria type B protein
NP_443077.1
XP_011536569.1
XP_011536570.1
XP_011536571.1
XP_024304729.1

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_007096.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_052845.4NP_443077.1  corrinoid adenosyltransferase 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
    ENSP00000445920.1, ENST00000545712.6
    Conserved Domains (1) summary
    pfam01923
    Location:59227
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    109553715..109573580 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538267.3XP_011536569.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_011536569.1

  2. XM_011538269.2XP_011536571.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X4

    Conserved Domains (1) summary
    pfam01923
    Location:5135
    Cob_adeno_trans; Cobalamin adenosyltransferase
  3. XM_011538268.2XP_011536570.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X3

    Conserved Domains (1) summary
    pfam01923
    Location:17136
    Cob_adeno_trans; Cobalamin adenosyltransferase
  4. XM_024448961.1XP_024304729.1  cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01923
    Location:58217
    Cob_adeno_trans; Cobalamin adenosyltransferase
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