Fields »
ABOUT
HELP
BLOG
MMAB

GENERAL INFORMATION

Gene name

 MMAB

Gene description

 Methylmalonic aciduria (cobalamin deficiency) cblB type

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA039017
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.