PCCA - propionyl-CoA carboxylase subunit alpha Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5095

About PCCA

Cytogenetic location: 13q32.3 Genomic coordinates (GRCh38): 13:100,089,093-100,530,435 (from NCBI)

This gene has 16 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues.

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

PCCA Products (11)

mRNA	Protein	Name
NM_000282.4	NP_000273.2	propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor
NM_001127692.3	NP_001121164.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform b
NM_001178004.2	NP_001171475.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor
NM_001352605.2	NP_001339534.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform d precursor
NM_001352606.2	NP_001339535.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform e precursor
NM_001352607.2	NP_001339536.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform f
NM_001352608.2	NP_001339537.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform g
NM_001352609.2	NP_001339538.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform h precursor
NM_001352610.2	NP_001339539.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform i
NM_001352611.2	NP_001339540.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform j
NM_001352612.2	NP_001339541.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform k

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	19157941	GOA
enables propionyl-CoA carboxylase activity	IDA IDA: Inferred from direct assay	6765947	GOA
enables propionyl-CoA carboxylase activity	IMP IMP: Inferred from mutant phenotype	8434582	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20725044	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of catalytic complex	IPI IPI: Inferred from physical interaction	20725044	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	16023992	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCCA Protein Structure

Biotin_carb_N

CPSase_L_D2

Biotin_carb_C

Biotin_lipoyl

0
200
400
600
728 a.a.

Protein Preferred Names	Protein Names
propionyl-CoA carboxylase alpha chain, mitochondrial	PCCase alpha subunit

PCCA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PCCA	P05165	PCCB	Homo sapiens	P05166	Pull Down	20725044
Intra	PCCA	P05165	PCCB	Homo sapiens	P05166	EM	20725044
Intra	PCCA	P05165	PCCB	Homo sapiens	P05166	GMS	20725044
Intra	PCCA	P05165	MCC	Homo sapiens	P23508	Y2H Prey Pooling	32296183
Intra	PCCA	P05165	MCC	Homo sapiens	P23508	Validated Y2H	32296183
Intra	PCCA	P05165	MCC	Homo sapiens	P23508	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	CAKUTHED Doid:0112359 Anomalies, Congenital, Kidney And Urinary Tract Syndrome With/Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Intellectual Developmental Disorder, Autosomal Dominant 5	MRD5 Autosomal Dominant Non-Syndromic Intellectual Disability 5 Intellectual Disability, Autosomal Dominant 5 Mental Retardation, Autosomal Dominant 5 Autosomal Dominant Intellectual Developmental Disorder 5 Syngap1-Related Non-Syndromic Intellectual Disability Autosomal Dominant Intellectual Disability 5 Syngap1 Syndrome Syngap1-Related Nsid Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2d Pcca PCH2D Progressive Cerebello-Cerebral Atrophy Cerebellocerebral Atrophy, Progressive Pontocerebellar Hypoplasia 2d Progressive Cerebellocerebral Atrophy Hypoplasia, Pontocerebellar, Type 2d
Abdominal Obesity-Metabolic Syndrome 1	Metabolic Syndrome X Metabolic Syndrome AOMS1 Dysmetabolic Syndrome X Metabolic Disease Abdominal Obesity Metabolic Syndrome
Niemann-Pick Disease, Type B	Niemann-Pick Disease Type B Acid Sphingomyelinase Deficiency, Visceral Type Asmd, Visceral Type Niemann Pick Disease Type B Chronic Visceral Acid Sphingomyelinase Deficiency Chronic Visceral Asmd Npd-B Niemann-Pick Disease B NPDB Niemann-Pick Disease Adult Non-Neuronopathic Form Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression Niemann-Pick Disease Type E Niemann-Pick Disease Type F Niemann-Pick Disease Type I Niemann-Pick Disease Visceral Form Npb Sphingomyelinase Deficiency Sphingomyelin Lipidosis Niemann-Picks Disease Type B Niemann-Pick Disease, Type E Niemann-Pick Diseases Niemann-Pick Disease, Type A
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100013A1	(1R,2R)-2-PCCA hydrochloride		98.08%	Unkown
HY-100013C	2-PCCA hydrochloride		99.61%	Unkown
HY-100013	2-PCCA	Agonist	/	Unkown
HY-100013B1	(1S,2S)-2-PCCA hydrochloride	Control	99.65%	Unkown
HY-RS10119	PCCA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21401	Pcca Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27920	Pcca Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PCCA	VGNC	VGNC:75773
Rattus norvegicus	PCCA	RGD	RGD:3264
Bos taurus	PCCA	VGNC	VGNC:32613
Canis familiaris	PCCA	VGNC	VGNC:44292
Mus musculus	PCCA	MGD	MGI:97499
Felis catus	PCCA	VGNC	VGNC:68713
Others	PCCA	NCBI