Expression of MMAB in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Methylmalonic aciduria (cobalamin deficiency) cblB type

Protein class

Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA039017

GENE INFORMATION
Gene name	MMAB (HGNC Symbol)
Synonyms	cblB, CFAP23
Description	Methylmalonic aciduria (cobalamin deficiency) cblB type (HGNC Symbol)
Entrez gene 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]
Chromosome	12
Cytoband	q24.11
Chromosome location (bp)	109553737 - 109573874
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000139428 (version 83.38)
Entrez gene	326625
UniProt	Q96EY8 (UniProt - Evidence at protein level)
neXtProt	NX_Q96EY8
Antibodypedia	MMAB antibodies

PROTEIN BROWSER

MMAB-001	MMAB-003	MMAB-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MMAB-001 ENSP00000445920 ENST00000545712	Q96EY8 [Direct mapping] Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0008817 [cob(I)yrinic acid a,c-diamide adenosyltransferase activity] GO:0009235 [cobalamin metabolic process] GO:0009236 [cobalamin biosynthetic process] GO:0044281 [small molecule metabolic process] Show all	250 aa 27.4 kDa	No	0
MMAB-003 ENSP00000474582 ENST00000540016	S4R3P5 [Direct mapping] Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		198 aa 21.8 kDa	No	0
MMAB-006 ENSP00000483818 ENST00000537236	A0A087X114 [Direct mapping] Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		97 aa 10.4 kDa	No	0