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MMACHC

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GENERAL INFORMATION

Gene name

 MMACHC

Gene description

 Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nucleoplasm. In addition localized to the plasma membrane & cytosol.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported)

Additional location

 In addition localized to the Plasma membrane (approved), Cytosol (approved)

DATA RELIABILITY

Reliability score

 Supported based on 2 antibodies.
HPA027394 , HPA027399
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoplasm. In addition localized to the plasma membrane & cytosol.

Main location

 Nucleoplasm (supported)

Additional location

 Plasma membrane (approved), Cytosol (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA027394 A-431 Nucleus
Cytosol
HPA027394 U-2 OS Nucleus
Cytosol
HPA027394 U-251 MG Nucleus
HPA027399 A-431 Nucleoplasm
Plasma membrane
HPA027399 U-2 OS Nucleoplasm
Plasma membrane
HPA027399 U-251 MG Nucleoplasm
Plasma membrane

GENE INFORMATION

Gene name

 MMACHC (HGNC Symbol)

Synonyms

 cblC, DKFZP564I122

Description

 Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (HGNC Symbol)

Entrez gene summary

 The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

Chromosome

 1

Cytoband

 p34.1

Chromosome location (bp)

 45500053 - 45513382

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000132763 (version 83.38)

Entrez gene

 25974

UniProt

 Q9Y4U1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y4U1

Antibodypedia

 MMACHC antibodies

PROTEIN BROWSER
MMACHC-001
MMACHC-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MMACHC-001
ENSP00000383840
ENST00000401061
Q9Y4U1 [Direct mapping]
Methylmalonic aciduria and homocystinuria type C protein
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0009235 [cobalamin metabolic process]
GO:0009236 [cobalamin biosynthetic process]
GO:0031419 [cobalamin binding]
GO:0044281 [small molecule metabolic process]
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 282 aa
31.7 kDa 		No 0
MMACHC-201
ENSP00000478859
ENST00000616135
A0A0C4DGU2 [Direct mapping]
Methylmalonic aciduria and homocystinuria type C protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 225 aa
25.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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