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

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: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (109553715..109573504, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (109528617..109548403, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (109991520..110011309, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MMAB promotes negative feedback control of cholesterol homeostasis.
Title: MMAB promotes negative feedback control of cholesterol homeostasis.
A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism.
Title: A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism.
analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type
Title: New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.
MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity
Title: Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz.
These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese.
Title: Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.
Title: High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation.
Title: Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.
c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR.
Title: Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus.
Title: Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Methylmalonic aciduria, cblB type MedGen: C1855102 OMIM: 251110 GeneReviews: Isolated Methylmalonic Acidemia	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S172 (e-PCR)
- UniSTS:5943

RH45414 (e-PCR)
- UniSTS:65667

D12S234 (e-PCR)
- UniSTS:49851

G17625 (e-PCR)
- UniSTS:1232

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cobalamin binding	IDA Inferred from Direct Assay more info	PubMed
enables corrinoid adenosyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables corrinoid adenosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables corrinoid adenosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables corrinoid adenosyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transferase activity, transferring alkyl or aryl (other than methyl) groups	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cobalamin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cobalamin metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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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

EC 2.5.1.17

XP_011536569.1

EC 2.5.1.17

XP_011536571.1

EC 2.5.1.17

XP_047284726.1

EC 2.5.1.17

XP_054227898.1

EC 2.5.1.17

XP_054227899.1

EC 2.5.1.17

XP_054227900.1

EC 2.5.1.17

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

NG_007096.1 RefSeqGene

Range

4994..24783

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_052845.4 → NP_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:59 → 227

Cob_adeno_trans; Cobalamin adenosyltransferase

RNA

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

109553715..109573504 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam01923
Location:5 → 135

Cob_adeno_trans; Cobalamin adenosyltransferase
XM_011538267.4 → XP_011536569.1 corrinoid adenosyltransferase MMAB isoform X1

See identical proteins and their annotated locations for XP_011536569.1
XM_047428770.1 → XP_047284726.1 corrinoid adenosyltransferase MMAB isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

109528617..109548403 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371925.1 → XP_054227900.1 corrinoid adenosyltransferase MMAB isoform X3
XM_054371923.1 → XP_054227898.1 corrinoid adenosyltransferase MMAB isoform X1
XM_054371924.1 → XP_054227899.1 corrinoid adenosyltransferase MMAB isoform X2

UniProtKB/TrEMBL

B4DHP4