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Protein

Pyruvate carboxylase, mitochondrial

Gene

PC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.

Catalytic activityi

ATP + pyruvate + HCO3- = ADP + phosphate + oxaloacetate.

Cofactori

Protein has several cofactor binding sites:

Pathwayi: gluconeogenesis

This protein is involved in the pathway gluconeogenesis, which is part of Carbohydrate biosynthesis.
View all proteins of this organism that are known to be involved in the pathway gluconeogenesis and in Carbohydrate biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei152ATPBy similarity1
Binding sitei236ATPBy similarity1
Binding sitei271ATPBy similarity1
Active sitei328By similarity1
Metal bindingi572Manganese1 Publication1
Binding sitei644Substrate1
Metal bindingi741Manganese; via carbamate group1 Publication1
Metal bindingi771Manganese; via tele nitrogen1 Publication1
Metal bindingi773Manganese; via tele nitrogen1 Publication1
Binding sitei908Substrate1

GO - Molecular functioni

  • ATP binding Source: ProtInc
  • biotin binding Source: ProtInc
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • pyruvate carboxylase activity Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionLigase, Multifunctional enzyme
Biological processGluconeogenesis, Lipid biosynthesis, Lipid metabolism
LigandATP-binding, Biotin, Manganese, Metal-binding, Nucleotide-binding, Pyruvate

Enzyme and pathway databases

BioCyciMetaCyc:HS10697-MONOMER
BRENDAi6.4.1.1 2681
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-70263 Gluconeogenesis
SABIO-RKiP11498
SIGNORiP11498
UniPathwayi
UPA00138

Names & Taxonomyi

Protein namesi
Recommended name:
Pyruvate carboxylase, mitochondrial (EC:6.4.1.1)
Alternative name(s):
Pyruvic carboxylase
Short name:
PCB
Gene namesi
Name:PC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000173599.13
HGNCiHGNC:8636 PC
MIMi608786 gene
neXtProtiNX_P11498

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Pyruvate carboxylase deficiency (PC deficiency)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionLeads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.
See also OMIM:266150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015199145V → A in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940591EnsemblClinVar.1
Natural variantiVAR_058957156R → Q in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs119103241EnsemblClinVar.1
Natural variantiVAR_058958270R → W in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs1258494752Ensembl.1
Natural variantiVAR_058959304Y → C in PC deficiency. 1 Publication1
Natural variantiVAR_015200451R → C in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs113994143EnsemblClinVar.1
Natural variantiVAR_058960583R → L in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs119103242EnsemblClinVar.1
Natural variantiVAR_008095610A → T in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940589EnsemblClinVar.1
Natural variantiVAR_058961631R → Q in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs113994145EnsemblClinVar.1
Natural variantiVAR_008096743M → I in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940590EnsemblClinVar.1
Natural variantiVAR_0589621131 – 1133Missing in PC deficiency. 1 Publication3

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1077F → A or E: Loss of tetramerization and enzyme activity, resulting in an inactive homodimer. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5091
GeneReviewsiPC
MalaCardsiPC
MIMi266150 phenotype
OpenTargetsiENSG00000173599
Orphaneti353320 Pyruvate carboxylase deficiency, benign type
353308 Pyruvate carboxylase deficiency, infantile type
353314 Pyruvate carboxylase deficiency, severe neonatal type
PharmGKBiPA32975

Chemistry databases

DrugBankiDB00121 Biotin
DB00119 Pyruvic acid

Polymorphism and mutation databases

BioMutaiPC
DMDMi1709947

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 20MitochondrionSequence analysisAdd BLAST20
ChainiPRO_000000284021 – 1178Pyruvate carboxylase, mitochondrialAdd BLAST1158

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei35N6-acetyllysineBy similarity1
Modified residuei39N6-acetyllysineBy similarity1
Modified residuei79N6-acetyllysine; alternateBy similarity1
Modified residuei79N6-succinyllysine; alternateBy similarity1
Modified residuei148N6-acetyllysineBy similarity1
Modified residuei152N6-acetyllysineBy similarity1
Modified residuei241N6-acetyllysineBy similarity1
Modified residuei297N6-acetyllysineBy similarity1
Modified residuei319N6-acetyllysineBy similarity1
Modified residuei434N6-acetyllysineBy similarity1
Modified residuei442N6-succinyllysineBy similarity1
Modified residuei589N6-acetyllysineBy similarity1
Modified residuei661N6-acetyllysineBy similarity1
Modified residuei717N6-acetyllysineBy similarity1
Modified residuei741N6-carboxylysine1 Publication1
Modified residuei748N6-acetyllysineBy similarity1
Modified residuei892N6-acetyllysineBy similarity1
Modified residuei969N6-acetyllysineBy similarity1
Modified residuei992N6-acetyllysineBy similarity1
Modified residuei1003PhosphothreonineBy similarity1
Modified residuei1061N6-acetyllysineBy similarity1
Modified residuei1090N6-acetyllysineCombined sources1
Modified residuei1124N6-acetyllysineBy similarity1
Modified residuei1144N6-biotinyllysinePROSITE-ProRule annotation2 Publications1

Post-translational modificationi

Acetylation of Lys-748 might play a role in catalytic activity regulation.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP11498
MaxQBiP11498
PaxDbiP11498
PeptideAtlasiP11498
PRIDEiP11498
ProteomicsDBi52785

PTM databases

iPTMnetiP11498
PhosphoSitePlusiP11498
SwissPalmiP11498

Expressioni

Gene expression databases

BgeeiENSG00000173599 Expressed in 160 organ(s), highest expression level in right lobe of liver
CleanExiHS_PC
ExpressionAtlasiP11498 baseline and differential
GenevisibleiP11498 HS

Organism-specific databases

HPAiCAB033742
HPA043922
HPA058765

Interactioni

Subunit structurei

Homotetramer (PubMed:18297087). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705).2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111124, 74 interactors
DIPiDIP-46372N
IntActiP11498, 16 interactors
MINTiP11498
STRINGi9606.ENSP00000377527

Structurei

Secondary structure

11178
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP11498
SMRiP11498
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11498

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 486Biotin carboxylationAdd BLAST451
Domaini156 – 353ATP-graspPROSITE-ProRule annotationAdd BLAST198
Domaini563 – 832Pyruvate carboxyltransferasePROSITE-ProRule annotationAdd BLAST270
Domaini1109 – 1178Biotinyl-bindingPROSITE-ProRule annotationAdd BLAST70

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni571 – 575Substrate binding5

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IU5D Eukaryota
COG1038 LUCA
GeneTreeiENSGT00900000141164
HOGENOMiHOG000282801
HOVERGENiHBG008340
InParanoidiP11498
KOiK01958
OrthoDBiEOG091G00X2
PhylomeDBiP11498
TreeFamiTF300535

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR011761 ATP-grasp
IPR005481 BC-like_N
IPR001882 Biotin_BS
IPR011764 Biotin_carboxylation_dom
IPR005482 Biotin_COase_C
IPR000089 Biotin_lipoyl
IPR003379 Carboxylase_cons_dom
IPR005479 CbamoylP_synth_lsu-like_ATP-bd
IPR016185 PreATP-grasp_dom_sf
IPR000891 PYR_CT
IPR005930 Pyruv_COase
IPR011054 Rudment_hybrid_motif
IPR011053 Single_hybrid_motif
PfamiView protein in Pfam
PF02785 Biotin_carb_C, 1 hit
PF00289 Biotin_carb_N, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02786 CPSase_L_D2, 1 hit
PF00682 HMGL-like, 1 hit
PF02436 PYC_OADA, 1 hit
PIRSFiPIRSF001594 Pyruv_carbox, 1 hit
SMARTiView protein in SMART
SM00878 Biotin_carb_C, 1 hit
SUPFAMiSSF51230 SSF51230, 1 hit
SSF51246 SSF51246, 1 hit
SSF52440 SSF52440, 1 hit
TIGRFAMsiTIGR01235 pyruv_carbox, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS50979 BC, 1 hit
PS00188 BIOTIN, 1 hit
PS50968 BIOTINYL_LIPOYL, 1 hit
PS50991 PYR_CT, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P11498-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLKFRTVHGG LRLLGIRRTS TAPAASPNVR RLEYKPIKKV MVANRGEIAI
60 70 80 90 100
RVFRACTELG IRTVAIYSEQ DTGQMHRQKA DEAYLIGRGL APVQAYLHIP
110 120 130 140 150
DIIKVAKENN VDAVHPGYGF LSERADFAQA CQDAGVRFIG PSPEVVRKMG
160 170 180 190 200
DKVEARAIAI AAGVPVVPGT DAPITSLHEA HEFSNTYGFP IIFKAAYGGG
210 220 230 240 250
GRGMRVVHSY EELEENYTRA YSEALAAFGN GALFVEKFIE KPRHIEVQIL
260 270 280 290 300
GDQYGNILHL YERDCSIQRR HQKVVEIAPA AHLDPQLRTR LTSDSVKLAK
310 320 330 340 350
QVGYENAGTV EFLVDRHGKH YFIEVNSRLQ VEHTVTEEIT DVDLVHAQIH
360 370 380 390 400
VAEGRSLPDL GLRQENIRIN GCAIQCRVTT EDPARSFQPD TGRIEVFRSG
410 420 430 440 450
EGMGIRLDNA SAFQGAVISP HYDSLLVKVI AHGKDHPTAA TKMSRALAEF
460 470 480 490 500
RVRGVKTNIA FLQNVLNNQQ FLAGTVDTQF IDENPELFQL RPAQNRAQKL
510 520 530 540 550
LHYLGHVMVN GPTTPIPVKA SPSPTDPVVP AVPIGPPPAG FRDILLREGP
560 570 580 590 600
EGFARAVRNH PGLLLMDTTF RDAHQSLLAT RVRTHDLKKI APYVAHNFSK
610 620 630 640 650
LFSMENWGGA TFDVAMRFLY ECPWRRLQEL RELIPNIPFQ MLLRGANAVG
660 670 680 690 700
YTNYPDNVVF KFCEVAKENG MDVFRVFDSL NYLPNMLLGM EAAGSAGGVV
710 720 730 740 750
EAAISYTGDV ADPSRTKYSL QYYMGLAEEL VRAGTHILCI KDMAGLLKPT
760 770 780 790 800
ACTMLVSSLR DRFPDLPLHI HTHDTSGAGV AAMLACAQAG ADVVDVAADS
810 820 830 840 850
MSGMTSQPSM GALVACTRGT PLDTEVPMER VFDYSEYWEG ARGLYAAFDC
860 870 880 890 900
TATMKSGNSD VYENEIPGGQ YTNLHFQAHS MGLGSKFKEV KKAYVEANQM
910 920 930 940 950
LGDLIKVTPS SKIVGDLAQF MVQNGLSRAE AEAQAEELSF PRSVVEFLQG
960 970 980 990 1000
YIGVPHGGFP EPFRSKVLKD LPRVEGRPGA SLPPLDLQAL EKELVDRHGE
1010 1020 1030 1040 1050
EVTPEDVLSA AMYPDVFAHF KDFTATFGPL DSLNTRLFLQ GPKIAEEFEV
1060 1070 1080 1090 1100
ELERGKTLHI KALAVSDLNR AGQRQVFFEL NGQLRSILVK DTQAMKEMHF
1110 1120 1130 1140 1150
HPKALKDVKG QIGAPMPGKV IDIKVVAGAK VAKGQPLCVL SAMKMETVVT
1160 1170
SPMEGTVRKV HVTKDMTLEG DDLILEIE
Length:1,178
Mass (Da):129,634
Last modified:October 1, 1996 - v2
Checksum:i381F527553A20095
GO
Isoform 2 (identifier: P11498-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     457-529: TNIAFLQNVL...ASPSPTDPVV → VRRHQAQPLA...STEVSPTILL
     530-1178: Missing.

Note: No experimental confirmation available.
Show »
Length:529
Mass (Da):57,925
Checksum:i35B87A653BF6F9C3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PS68E9PS68_HUMAN
Pyruvate carboxylase, mitochondrial
PC
298Annotation score:
E9PRE7E9PRE7_HUMAN
Pyruvate carboxylase, mitochondrial
PC
489Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti225 – 226LA → WP in AAB31500 (PubMed:8048912).Curated2
Sequence conflicti352A → S in AAA82937 (Ref. 3) Curated1
Sequence conflicti385 – 386RS → PT in AAB31500 (PubMed:8048912).Curated2
Sequence conflicti486 – 487EL → DV in AAB31500 (PubMed:8048912).Curated2
Sequence conflicti638P → R in AAB31500 (PubMed:8048912).Curated1
Sequence conflicti729E → A in AAB31500 (PubMed:8048912).Curated1
Sequence conflicti774 – 775DT → AP in AAB31500 (PubMed:8048912).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04841676H → L. Corresponds to variant dbSNP:rs7104156EnsemblClinVar.1
Natural variantiVAR_015199145V → A in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940591EnsemblClinVar.1
Natural variantiVAR_058957156R → Q in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs119103241EnsemblClinVar.1
Natural variantiVAR_058958270R → W in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs1258494752Ensembl.1
Natural variantiVAR_058959304Y → C in PC deficiency. 1 Publication1
Natural variantiVAR_015200451R → C in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs113994143EnsemblClinVar.1
Natural variantiVAR_058960583R → L in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs119103242EnsemblClinVar.1
Natural variantiVAR_008095610A → T in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940589EnsemblClinVar.1
Natural variantiVAR_058961631R → Q in PC deficiency. 1 PublicationCorresponds to variant dbSNP:rs113994145EnsemblClinVar.1
Natural variantiVAR_008096743M → I in PC deficiency; mild. 2 PublicationsCorresponds to variant dbSNP:rs28940590EnsemblClinVar.1
Natural variantiVAR_0589621131 – 1133Missing in PC deficiency. 1 Publication3

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056358457 – 529TNIAF…TDPVV → VRRHQAQPLAAALGRPCGQE ARRPQAAVTAPTGPGSPTLV RVPPAARVLSSRLGGPSQTT PETSTEVSPTILL in isoform 2. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_056359530 – 1178Missing in isoform 2. 1 PublicationAdd BLAST649

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U04641 mRNA Translation: AAA99537.1
S72370 mRNA Translation: AAB31500.1
U30891 mRNA Translation: AAA82937.1
AK297705 mRNA Translation: BAG60062.1
AP000485 Genomic DNA No translation available.
AP003176 Genomic DNA No translation available.
BC011617 mRNA Translation: AAH11617.1
M26122 mRNA Translation: AAA36423.1
K02282 mRNA Translation: AAA60033.1
CCDSiCCDS8152.1 [P11498-1]
PIRiG01933 JC2460
RefSeqiNP_000911.2, NM_000920.3 [P11498-1]
NP_001035806.1, NM_001040716.1 [P11498-1]
NP_071504.2, NM_022172.2 [P11498-1]
XP_005274088.1, XM_005274031.4 [P11498-1]
XP_005274089.1, XM_005274032.4 [P11498-1]
XP_006718641.1, XM_006718578.3 [P11498-1]
XP_011543388.1, XM_011545086.2 [P11498-1]
XP_016873357.1, XM_017017868.1 [P11498-1]
XP_016873358.1, XM_017017869.1 [P11498-1]
XP_016873359.1, XM_017017870.1 [P11498-1]
XP_016873360.1, XM_017017871.1 [P11498-1]
XP_016873361.1, XM_017017872.1 [P11498-1]
UniGeneiHs.89890

Genome annotation databases

EnsembliENST00000393955; ENSP00000377527; ENSG00000173599 [P11498-1]
ENST00000393958; ENSP00000377530; ENSG00000173599 [P11498-1]
ENST00000393960; ENSP00000377532; ENSG00000173599 [P11498-1]
GeneIDi5091
KEGGihsa:5091
UCSCiuc001ojn.2 human [P11498-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Pyruvate carboxylase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U04641 mRNA Translation: AAA99537.1
S72370 mRNA Translation: AAB31500.1
U30891 mRNA Translation: AAA82937.1
AK297705 mRNA Translation: BAG60062.1
AP000485 Genomic DNA No translation available.
AP003176 Genomic DNA No translation available.
BC011617 mRNA Translation: AAH11617.1
M26122 mRNA Translation: AAA36423.1
K02282 mRNA Translation: AAA60033.1
CCDSiCCDS8152.1 [P11498-1]
PIRiG01933 JC2460
RefSeqiNP_000911.2, NM_000920.3 [P11498-1]
NP_001035806.1, NM_001040716.1 [P11498-1]
NP_071504.2, NM_022172.2 [P11498-1]
XP_005274088.1, XM_005274031.4 [P11498-1]
XP_005274089.1, XM_005274032.4 [P11498-1]
XP_006718641.1, XM_006718578.3 [P11498-1]
XP_011543388.1, XM_011545086.2 [P11498-1]
XP_016873357.1, XM_017017868.1 [P11498-1]
XP_016873358.1, XM_017017869.1 [P11498-1]
XP_016873359.1, XM_017017870.1 [P11498-1]
XP_016873360.1, XM_017017871.1 [P11498-1]
XP_016873361.1, XM_017017872.1 [P11498-1]
UniGeneiHs.89890

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3BG3X-ray2.80A/B/C/D482-1178[»]
3BG9X-ray3.00A/B/C/D482-1178[»]
ProteinModelPortaliP11498
SMRiP11498
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111124, 74 interactors
DIPiDIP-46372N
IntActiP11498, 16 interactors
MINTiP11498
STRINGi9606.ENSP00000377527

Chemistry databases

DrugBankiDB00121 Biotin
DB00119 Pyruvic acid

PTM databases

iPTMnetiP11498
PhosphoSitePlusiP11498
SwissPalmiP11498

Polymorphism and mutation databases

BioMutaiPC
DMDMi1709947

Proteomic databases

EPDiP11498
MaxQBiP11498
PaxDbiP11498
PeptideAtlasiP11498
PRIDEiP11498
ProteomicsDBi52785

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393955; ENSP00000377527; ENSG00000173599 [P11498-1]
ENST00000393958; ENSP00000377530; ENSG00000173599 [P11498-1]
ENST00000393960; ENSP00000377532; ENSG00000173599 [P11498-1]
GeneIDi5091
KEGGihsa:5091
UCSCiuc001ojn.2 human [P11498-1]

Organism-specific databases

CTDi5091
DisGeNETi5091
EuPathDBiHostDB:ENSG00000173599.13
GeneCardsiPC
GeneReviewsiPC
HGNCiHGNC:8636 PC
HPAiCAB033742
HPA043922
HPA058765
MalaCardsiPC
MIMi266150 phenotype
608786 gene
neXtProtiNX_P11498
OpenTargetsiENSG00000173599
Orphaneti353320 Pyruvate carboxylase deficiency, benign type
353308 Pyruvate carboxylase deficiency, infantile type
353314 Pyruvate carboxylase deficiency, severe neonatal type
PharmGKBiPA32975
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU5D Eukaryota
COG1038 LUCA
GeneTreeiENSGT00900000141164
HOGENOMiHOG000282801
HOVERGENiHBG008340
InParanoidiP11498
KOiK01958
OrthoDBiEOG091G00X2
PhylomeDBiP11498
TreeFamiTF300535

Enzyme and pathway databases

UniPathwayi
UPA00138

BioCyciMetaCyc:HS10697-MONOMER
BRENDAi6.4.1.1 2681
ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
R-HSA-70263 Gluconeogenesis
SABIO-RKiP11498
SIGNORiP11498

Miscellaneous databases

ChiTaRSiPC human
EvolutionaryTraceiP11498
GenomeRNAii5091
PROiPR:P11498
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173599 Expressed in 160 organ(s), highest expression level in right lobe of liver
CleanExiHS_PC
ExpressionAtlasiP11498 baseline and differential
GenevisibleiP11498 HS

Family and domain databases

Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR011761 ATP-grasp
IPR005481 BC-like_N
IPR001882 Biotin_BS
IPR011764 Biotin_carboxylation_dom
IPR005482 Biotin_COase_C
IPR000089 Biotin_lipoyl
IPR003379 Carboxylase_cons_dom
IPR005479 CbamoylP_synth_lsu-like_ATP-bd
IPR016185 PreATP-grasp_dom_sf
IPR000891 PYR_CT
IPR005930 Pyruv_COase
IPR011054 Rudment_hybrid_motif
IPR011053 Single_hybrid_motif
PfamiView protein in Pfam
PF02785 Biotin_carb_C, 1 hit
PF00289 Biotin_carb_N, 1 hit
PF00364 Biotin_lipoyl, 1 hit
PF02786 CPSase_L_D2, 1 hit
PF00682 HMGL-like, 1 hit
PF02436 PYC_OADA, 1 hit
PIRSFiPIRSF001594 Pyruv_carbox, 1 hit
SMARTiView protein in SMART
SM00878 Biotin_carb_C, 1 hit
SUPFAMiSSF51230 SSF51230, 1 hit
SSF51246 SSF51246, 1 hit
SSF52440 SSF52440, 1 hit
TIGRFAMsiTIGR01235 pyruv_carbox, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS50979 BC, 1 hit
PS00188 BIOTIN, 1 hit
PS50968 BIOTINYL_LIPOYL, 1 hit
PS50991 PYR_CT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPYC_HUMAN
AccessioniPrimary (citable) accession number: P11498
Secondary accession number(s): B4DN00, Q16705
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 209 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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