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Gene Model: Pcca

NomenclatureGenomic Location
SymbolPccaChromosomeX
NamePropionyl-Coenzyme A carboxylase,
alpha polypeptide		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesX: 42 Mbp

Molecular Function

ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA.

Molecular Function Terms:

binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding

catalytic activity
   ligase activity
      ligase activity, forming carbon-nitrogen bonds
         biotin carboxylase activity

Human Disease Association

Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:606054]. PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Predicted Transcript
     1 AGGGAAGGTTTTAGATTTTCATCGCAAGAAGCTGCATCAAGTTTTGGTGATGATCGATTG
    61 TTAATAGAAAAGTTTATAGATAATCCGCGTCACATAGAAATTCAGGTATTGGCTGATAAA
   121 CATGGCAACGCACTGTGGCTGAATGAGAGAGAGTGTTCTATTCAGAGGAGAAATCAGAAA
   181 GTTATTGAAGAAGCCCCAAGAAACACGTGTAGCACTTTCTTGGATCCAGAGACACGCAGA
   241 GCAATGGGAGAACAAGCTGTAGCTCTTGCCAAAGCAGTAAAATACTCATCTGCTGGGACA
   301 GTGGAATTTCTTGTGGATTCAAAAAAGAATTTCTACTTTTTAGAAATGAACACTCGACTT
   361 CAGGTTGAACATCCCATCACAGAATGCATTACCAGTTTGGATCTAGTCCAAGAAATGATC
   421 CGTGTTGCTAAGGGTTACCCTCTCAGGCACAAGCAGAATGATATTCCCATCAACGGCTGG
   481 GCAGTTGAATGTCGAGTATATGCTGAGGATCCTTACAAATCTTTTGGGCTGCCATCTATT
   541 GGTCGATTGTCTCAGTACAAAGAGCCACTGCATGTGCCCAATGTCCGTGTAGACAGTGGT
   601 GTACAGCAAGGAAGTGAAATCAGCATTTATTATGATCCAATGATTTCAAAATTGATAACG
   661 TATGGATCTAACAGATCTGAAGCTTTACAAAGAATGGAAGAAGCCTTGGATAATTATGTT
   721 ATAAGGGGTGTAGCACACAACATTGCCTTGCTGCGTGAAGTGATAACCCATCCACGCTTT
   781 GTCCAGGGAGACATTAGCACCAAATTCCTTCCTGATGTGTATCCTGATGGCTTTAAAGGG
   841 CACAAGTTGGAAGACTCAGAGAAAAGGGAGCTTCTGGTTATAGCAGCTTCTCTGTATGTG
   901 GCTGAACAACTTAGATCGCAAAGATTT

Predicted Protein Product
REGFRFSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLADKHGNALWLNERECSIQRRNQK
VIEEAPRNTCSTFLDPETRRAMGEQAVALAKAVKYSSAGTVEFLVDSKKNFYFLEMNTRL
QVEHPITECITSLDLVQEMIRVAKGYPLRHKQNDIPINGWAVECRVYAEDPYKSFGLPSI
GRLSQYKEPLHVPNVRVDSGVQQGSEISIYYDPMISKLITYGSNRSEALQRMEEALDNYV
IRGVAHNIALLREVITHPRFVQGDISTKFLPDVYPDGFKGHKLEDSEKRELLVIAASLYV
AEQLRSQRF
Protein Alignment to Mouse
sp|Q91ZA3|PCCA_MOUSE Propionyl-CoA carboxylase alpha chain, mitochondrial
            OS=Mus musculus GN=Pcca PE=2 SV=2
      MGI:97499 Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide (Chr 14)
        Length = 724

 Score = 1370 (487.3 bits), Expect = 9.7e-141, P = 9.7e-141
 Identities = 263/309 (85%), Positives = 287/309 (92%)

Query:     1 REGFRFSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLADKHGNALWLNERECSIQRRNQK 60
             R+GFRFSSQEAASSFGDDRLLIEKFIDNPRHIEIQVL DKHGNALWLNERECSIQRRNQK
Sbjct:   235 RDGFRFSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQK 294

Query:    61 VIEEAPRNTCSTFLDPETRRAMGEQAVALAKAVKYSSAGTVEFLVDSKKNFYFLEMNTRL 120
             V+EEAP    S FLDPETR+AMGEQAVALAKAVKYSSAGTVEFLVDS+KNFYFLEMNTRL
Sbjct:   295 VVEEAP----SIFLDPETRQAMGEQAVALAKAVKYSSAGTVEFLVDSQKNFYFLEMNTRL 350

Query:   121 QVEHPITECITSLDLVQEMIRVAKGYPLRHKQNDIPINGWAVECRVYAEDPYKSFGLPSI 180
             QVEHP+TECIT LDLVQEMI VAKGYPLRHKQ DIPI+GWAVECRVYAEDPYKSFGLPSI
Sbjct:   351 QVEHPVTECITGLDLVQEMILVAKGYPLRHKQEDIPISGWAVECRVYAEDPYKSFGLPSI 410

Query:   181 GRLSQYKEPLHVPNVRVDSGVQQGSEISIYYDPMISKLITYGSNRSEALQRMEEALDNYV 240
             GRLSQY+EP+H+P VRVDSG+Q GS+ISIYYDPMISKL+TYGS+R+EAL+RME+ALDNYV
Sbjct:   411 GRLSQYQEPIHLPGVRVDSGIQPGSDISIYYDPMISKLVTYGSDRAEALKRMEDALDNYV 470

Query:   241 IRGVAHNIALLREVITHPRFVQGDISTKFLPDVYPDGFKGHKLEDSEKRELLVIAASLYV 300
             IRGV HNI LLREVI + RFV+GDISTKFL DVYPDGFKGH L  SE+ +LL IA+S++V
Sbjct:   471 IRGVTHNIPLLREVIINTRFVKGDISTKFLSDVYPDGFKGHTLTLSERNQLLAIASSVFV 530

Query:   301 AEQLRSQRF 309
             A QLR+QRF
Sbjct:   531 ASQLRAQRF 539