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

Gene ID: 326625, updated on 17-Jun-2024

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; AllianceGenome:HGNC:19331
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
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Genomic context

See MMAB in Genome Data Viewer
Location:
12q24.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109553715..109573504, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109528617..109548403, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109991520..110011309, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109896331-109897136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109897944-109898749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109898750-109899556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109900363-109901169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109914018-109914753 Neighboring gene potassium channel tetramerization domain containing 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6986 Neighboring gene ubiquitin protein ligase E3B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109976965-109977466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109978915-109979477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109995443-109995944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109999353-109999852 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110001138-110001638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110010699-110011200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110011201-110011700 Neighboring gene RNA, U4 small nuclear 32, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110036333-110037022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110049030-110049530 Neighboring gene mevalonate kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110105927-110106096 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110108888-110110087 Neighboring gene RN7SK pseudogene 250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110133637-110134446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110150092-110150655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110164162-110164872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110169301-110169801 Neighboring gene family with sequence similarity 222 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110174581-110175080 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene FAM222A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177165-110177666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177667-110178166

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?

Phenotypes

Associated conditions

Description Tests
Methylmalonic aciduria, cblB type Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
corrinoid adenosyltransferase MMAB
Names
ATP:co(I)rrinoid adenosyltransferase MMAB
ATP:cob(I)alamin adenosyltransferase
ATP:corrinoid adenosyltransferase
aquocob(I)alamin vitamin B12s adenosyltransferase
cilia and flagella associated protein 23
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
cob(II)alamin adenosyltransferase
cob(II)yrinic acid a,c-diamide adenosyltransferase
cobinamide/cobalamin adenosyltransferase
corrinoid adenosyltransferase
methylmalonic aciduria (cobalamin deficiency) cblB type
methylmalonic aciduria type B protein
NP_443077.1
XP_011536569.1
XP_011536571.1
XP_047284726.1
XP_054227898.1
XP_054227899.1
XP_054227900.1

NCBI Reference Sequences (RefSeq)

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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
    4994..24783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_052845.4NP_443077.1  corrinoid adenosyltransferase MMAB 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
    C5HU05, Q96EY8, Q9BSH0
    UniProtKB/TrEMBL
    B2R6J3
    Related
    ENSP00000445920.1, ENST00000545712.7
    Conserved Domains (1) summary
    pfam01923
    Location:59227
    Cob_adeno_trans; Cobalamin adenosyltransferase

RNA

  1. NR_038118.2 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    109553715..109573504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538269.3XP_011536571.1  corrinoid adenosyltransferase MMAB isoform X3

    Conserved Domains (1) summary
    pfam01923
    Location:5135
    Cob_adeno_trans; Cobalamin adenosyltransferase
  2. XM_011538267.4XP_011536569.1  corrinoid adenosyltransferase MMAB isoform X1

    See identical proteins and their annotated locations for XP_011536569.1

  3. XM_047428770.1XP_047284726.1  corrinoid adenosyltransferase MMAB isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    109528617..109548403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371925.1XP_054227900.1  corrinoid adenosyltransferase MMAB isoform X3

  2. XM_054371923.1XP_054227898.1  corrinoid adenosyltransferase MMAB isoform X1

  3. XM_054371924.1XP_054227899.1  corrinoid adenosyltransferase MMAB isoform X2

    UniProtKB/TrEMBL
    B4DHP4