PCCA_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PCCA
Protein names and data:
PCCA_HUMAN
, Propionyl-CoA carboxylase alpha chain, mitochondrial; PCCase subunit alpha; 6.4.1.3
, Propanoyl-CoA:carbon dioxide ligase subunit alpha; Flags: Precursor
Lenght: 728 a.a.
Mass: 80059 Da
fasta formatted sequence
Catalytic activity:
ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.
Pathway:
Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.
Disease:
( OMIM:
232000
606054
)
Propionic acidemia type I (PA-1) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion matrix.
Genetic variants
75 - 75
A -> P (in PA-1). VAR_009087
77 - 77
R -> W (in PA-1). VAR_009088
138 - 138
A -> T (in PA-1). VAR_009089
164 - 164
I -> T (in PA-1). VAR_009090
197 - 197
G -> E (in PA-1). VAR_023843
229 - 229
M -> K (in PA-1). VAR_009091
297 - 297
Q -> R (in PA-1). VAR_009092
368 - 368
D -> G (in PA-1). VAR_009093
373 - 373
M -> K (in PA-1; unstable protein). VAR_009094
379 - 379
G -> V (in PA-1). VAR_009095
398 - 398
C -> R (in PA-1). VAR_023844
399 - 399
R -> Q (in PA-1). VAR_009096
423 - 423
P -> L (in PA-1). VAR_009097
475 - 475
I -> V (in dbSNP:rs35719359). VAR_009098
35719359
532 - 532
Missing (in PA-1). VAR_023845
551 - 551
V -> F (in dbSNP:rs61749895). VAR_023846
61749895
559 - 559
W -> L (in PA-1; dbSNP:rs118169528). VAR_009099
118169528
631 - 631
G -> R (in PA-1). VAR_009100
668 - 668
G -> R (in PA-1). VAR_009101
712 - 712
Missing (in PA-1). VAR_009102
Database cross-references
UniProt:
P05165
Ensembl:
ENST00000376279
Ensembl:
ENST00000376285
Ensembl:
ENST00000376286
MIM:
232000
MIM:
606054
neXtProt:
NX_P05165
Antibodypedia:
P05165
(may not find the protein thus also not any antibody)
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