Reactome | A456V MCCC2 [mitochondrial matrix]

A456V MCCC2 [mitochondrial matrix]

Stable Identifier

R-HSA-9909449

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

methylcrotonyl-CoA carboxylase beta chain

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Diseases of branched-chain amino acid catabolism (Homo sapiens)
    - 3-Methylcrotonyl-CoA carboxylase deficiency (Homo sapiens)
      - MCCC mutants don't synthesize beta-methylglutaconyl-CoA (Homo sapiens)
        
        MCCC mutant complexes [mitochondrial matrix] (Homo sapiens)
        
        6x(Btn-MCCC1:MCCC2 mutants) [mitochondrial matrix] (Homo sapiens)
        
        MCCC2 mutants [mitochondrial matrix] (Homo sapiens)
        
        A456V MCCC2 [mitochondrial matrix] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
16010683	3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening Dantas, MF, Suormala, T, Randolph, A, Coelho, D, Fowler, B, Valle, D, Baumgartner, MR	Hum Mutat	2005
22642865	3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals Grünert, SC, Stucki, M, Morscher, RJ, Suormala, T, Bürer, C, Burda, P, Christensen, E, Ficicioglu, C, Herwig, J, Kölker, S, Möslinger, D, Pasquini, E, Santer, R, Schwab, KO, Wilcken, B, Fowler, B, Yue, WW, Baumgartner, MR	Orphanet J Rare Dis	2012

External Reference Information

External Reference

UniProt:Q9HCC0 MCCC2

Gene Names

MCCC2, MCCB

Chain

transit peptide:1-22, chain:23-563

Reference Genes

BioGPS Gene:64087 MCCC2

COSMIC - genes:MCCC2 MCCC2

CTD Gene:64087 MCCC2

dbSNP Gene:64087 MCCC2

ENSEMBL:ENSG00000131844 MCCC2

HGNC:6937 MCCC2

KEGG:hsa:64087 MCCC2

Monarch:64087 MCCC2

NCBI Gene:64087 MCCC2

OMIM:609014 MCCC2

UCSC:Q9HCC0 MCCC2

Reference Transcript

Other Identifiers

11729236_at

11729237_a_at

1556345_PM_s_at

1556345_s_at

1560033_PM_at

1560033_at

16985911

209623_PM_at

209623_at

209624_PM_s_at

209624_s_at

233231_PM_at

233231_at

2814641

2814643

2814644

2814647

2814648

2814649

2814650

2814651

2814652

2814655

2814663

2814664

2814665

2814666

2814667

2814668

2814669

2814670

2814671

2814672

2814673

2814674

2814675

2814676

2814677

2814678

2814679

2814680

2814681

2814682

2814687

2814688

2814689

2814690

2814691

2814692

36432_at

43695_at

64087

72262_at

8106068

8177601

88457_at

A_14_P111147

A_14_P122432

A_23_P18887

GE56317

GE88197

GE905935

GO:0000166

GO:0004485

GO:0005515

GO:0005524

GO:0005739

GO:0005759

GO:0005829

GO:0006520

GO:0006552

GO:0006790

GO:0009083

GO:0015936

GO:0016874

GO:0055086

GO:1905202

HMNXSV003034390

Hs.167531.0.S2_3p_at

Hs.272240.0.S1_3p_at

Hs2.288415.1.S1_3p_at

Hs2.407347.1.S1_3p_s_at

PH_hs_0019391

PH_hs_0027271

PH_hs_0038535

TC05000334.hg

g10934058_3p_a_at

Participates

as a member of

MCCC2 mutants [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

MCCC2 [mitochondrial matrix]

MCCC2 [cytosol]

E99Q MCCC2 [mitochondrial matrix]

S173L MCCC2 [mitochondrial matrix]

V339M MCCC2 [mitochondrial matrix]

G352R MCCC2 [mitochondrial matrix]

H190Y MCCC2 [mitochondrial matrix]

Modified Residues

Name

L-alanine 456 replaced with L-valine

Coordinate

456

PsiMod

L-valine residue [MOD:00029]

A protein modification that effectively converts a source amino acid residue to an L-valine.

L-alanine removal [MOD:01631]

A protein modification that effectively removes or replaces an L-alanine.

Disease

Name	Identifier	Synonyms
3-methylcrotonyl-CoA carboxylase deficiency	DOID:0050710	3MCC deficiency, BMCC deficiency, 3-Methylcrotonylglycinuria
3-Methylcrotonyl-CoA carboxylase 2 deficiency	DOID:0080580

Cross References

RefSeq

NP_071415.1, NP_001350076.1

ClinGen

CA234252, CA658657454

OpenTargets

ENSG00000131844

ENSEMBL

ENSG00000131844, ENST00000683789, ENSP00000343657, ENSP00000507012, ENST00000340941

Mondo

0008862

PRO

Q9HCC0

GlyGen

Q9HCC0

PDB

8J78, 8XL8, 8J99, 8J73, 8J4Z, 8JAK, 8K2V, 8J7D, 8JXM, 8XL7, 8JXN, 8JXL, 8JAW, 8XL6

HPA

ENSG00000131844-MCCC2

GeneCards

MCCC2

Pharos - Targets

Q9HCC0

Orphanet

MCCC2

HMDB Protein

HMDBP00508

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279)	0.519	5