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

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MMACHC

TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

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

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Mixed

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in several cell types, but mainly in lymphoid cells.

ANTIBODY IHC RELIABILITY
Data reliability description	Pending external verification.
Reliability score	Uncertain based on 3 antibodies. HPA027394 , HPA027399 , HPA027402
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA027394	HPA027399	HPA027402

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 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	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] Show all	282 aa 31.7 kDa	No	0
MMACHC-201 ENSP00000478859 ENST00000616135	A0A0C4DGU2 [Direct mapping] Methylmalonic aciduria and homocystinuria type C protein Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		225 aa 25.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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