UniProtKB - P04180 (LCAT_HUMAN)
Phosphatidylcholine-sterol acyltransferase
LCAT
Functioni
Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816).
The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107).
Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751).
Catalyzes the hydrolysis of 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (platelet-activating factor or PAF) to 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) (PubMed:8016111).
Also catalyzes the transfer of the acetate group from PAF to 1-hexadecanoyl-sn-glycero-3-phosphocholine forming lyso-PAF (PubMed:8016111).
Catalyzes the esterification of (24S)-hydroxycholesterol (24(S)OH-C), also known as cerebrosterol to produce 24(S)OH-C monoesters (PubMed:24620755).
9 PublicationsMiscellaneous
Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phosphocholine + a sterol = a 1-acyl-sn-glycero-3-phosphocholine + a sterol esterPROSITE-ProRule annotation8 PublicationsEC:2.3.1.43PROSITE-ProRule annotation8 Publications
- a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H+1 PublicationEC:3.1.1.471 PublicationThis reaction proceeds in the forward1 Publication direction.
- (24S)-hydroxycholesterol + 1-hexadecanoyl-2-acyl-sn-glycero-3-phosphocholine = (24S)-24-hydroxycholesterol ester + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- (24S)-hydroxycholesterol + 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine = (24S)-hydroxycholesterol 3-linoleoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (5Z,8Z,11Z,14Z)-eicosatetraenoate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (9Z-octadecenoate)1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(8Z,11Z,14Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (8Z,11Z,14Z)-eicosatrienoate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(5Z,8Z,11Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (5Z,8Z,11Z)-eicosatrienoate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-sn-glycero-3-phosphocholine + cholesterol = (5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl)-cholesterol + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + cholesterol = 1-hexadecanoyl-sn-glycero-3-phosphocholine + cholesteryl (9Z,12Z)-octadecadienoate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(6Z,9Z,12Z-octadecatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = (6Z,9Z,12Z-octadecatrienoyl)-cholesterol + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(11Z,14Z,17Z-eicosatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = (11Z,14Z,17Z-eicosatrienoyl)-cholesterol + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(9Z,12Z,15Z-octadecatrienoyl)-sn-glycero-3-phosphocholine + cholesterol = (9Z,12Z,15Z-octadecatrienoyl)-cholesterol + 1-hexadecanoyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine + H2O = (9Z,12Z)-octadecadienoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1-hexadecanoyl-sn-glycero-3-phosphocholine + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-sn-glycero-3-phosphocholine + a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine = 1-hexadecanoyl-2-acetyl-sn-glycero-3-phosphocholine + 1-O-alkyl-sn-glycero-3-phosphocholine1 PublicationThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
Kineticsi
- KM=0.97 mM for LDL1 Publication
- KM=0.4 mM for HDL21 Publication
- KM=0.10 mM for HDL31 Publication
- KM=12.8 µM for 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine1 Publication
- KM=125.5 µM for (24S)-hydroxycholesterol (in the presence of APOA1)1 Publication
- KM=417.3 µM for (24S)-hydroxycholesterol (in the presence of APOE)1 Publication
- Vmax=8.3 mmol/min/mg enzyme with LDL as substrate1 Publication
- Vmax=0.58 mmol/min/mg enzyme with HDL2 as substrate1 Publication
- Vmax=2.0 mmol/min/mg enzyme with HDL3 as substrate1 Publication
- Vmax=0.2 µmol/h/mg enzyme with 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine as substrate1 Publication
- Vmax=12 µmol/h/mg enzyme with cholesterol as substrate1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 173 | Determinant for substrate specificity1 Publication | 1 | |
Active sitei | 205 | Nucleophile1 Publication | 1 | |
Active sitei | 369 | Charge relay system1 Publication | 1 | |
Active sitei | 401 | Charge relay system1 Publication | 1 |
GO - Molecular functioni
- 1-alkyl-2-acetylglycerophosphocholine esterase activity Source: UniProtKB
- apolipoprotein A-I binding Source: BHF-UCL
- phosphatidylcholine-sterol O-acyltransferase activity Source: UniProtKB
- phospholipase A2 activity Source: Ensembl
- platelet-activating factor acetyltransferase activity Source: UniProtKB
GO - Biological processi
- cholesterol esterification Source: UniProtKB
- cholesterol homeostasis Source: BHF-UCL
- cholesterol metabolic process Source: UniProtKB
- cholesterol transport Source: MGI
- high-density lipoprotein particle remodeling Source: UniProtKB
- lipid metabolic process Source: GO_Central
- lipoprotein biosynthetic process Source: Ensembl
- phosphatidylcholine biosynthetic process Source: BHF-UCL
- phosphatidylcholine metabolic process Source: UniProtKB
- phospholipid metabolic process Source: BHF-UCL
- regulation of high-density lipoprotein particle assembly Source: Ensembl
- response to copper ion Source: Ensembl
- response to glucocorticoid Source: Ensembl
- reverse cholesterol transport Source: BHF-UCL
- very-low-density lipoprotein particle remodeling Source: BHF-UCL
Keywordsi
Molecular function | Acyltransferase, Hydrolase, Transferase |
Biological process | Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism |
Enzyme and pathway databases
BRENDAi | 2.3.1.43, 2681 |
PathwayCommonsi | P04180 |
Reactomei | R-HSA-8964058, HDL remodeling |
SABIO-RKi | P04180 |
SignaLinki | P04180 |
SIGNORi | P04180 |
Protein family/group databases
ESTHERi | human-LCAT, PC-sterol_acyltransferase |
Chemistry databases
SwissLipidsi | SLP:000000660 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylcholine-sterol acyltransferase (EC:2.3.1.437 Publications)Alternative name(s): 1-alkyl-2-acetylglycerophosphocholine esterase (EC:3.1.1.471 Publication) Lecithin-cholesterol acyltransferase Phospholipid-cholesterol acyltransferase Platelet-activating factor acetylhydrolase1 Publication Short name: PAF acetylhydrolase |
Gene namesi | Name:LCAT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6522, LCAT |
MIMi | 606967, gene |
neXtProti | NX_P04180 |
VEuPathDBi | HostDB:ENSG00000213398 |
Subcellular locationi
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
- extracellular region Source: Reactome
- extracellular space Source: UniProtKB
- high-density lipoprotein particle Source: BHF-UCL
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Lecithin-cholesterol acyltransferase deficiency (LCATD)15 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004251 | 17 | L → LLLPPAAPFWL in LCATD. | 1 | |
Natural variantiVAR_039020 | 29 | N → I in LCATD. 1 Publication | 1 | |
Natural variantiVAR_039022 | 37 | T → M in LCATD. 1 PublicationCorresponds to variant dbSNP:rs971887742Ensembl. | 1 | |
Natural variantiVAR_004253 | 54 | G → S in LCATD. 1 PublicationCorresponds to variant dbSNP:rs1461145750Ensembl. | 1 | |
Natural variantiVAR_004254 | 57 | G → R in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004255 | 117 | A → T in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs28940886EnsemblClinVar. | 1 | |
Natural variantiVAR_004257 | 159 | R → W in LCATD. 1 PublicationCorresponds to variant dbSNP:rs28940887EnsemblClinVar. | 1 | |
Natural variantiVAR_039028 | 164 | R → C in LCATD. 1 PublicationCorresponds to variant dbSNP:rs1380009545Ensembl. | 1 | |
Natural variantiVAR_004258 | 164 | R → H in LCATD; also found in a patient with intermediate phenotype between LCATD and FED; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs769485083Ensembl. | 1 | |
Natural variantiVAR_004259 | 171 | R → W in LCATD. 2 Publications | 1 | |
Natural variantiVAR_004260 | 180 | Y → N in LCATD. Corresponds to variant dbSNP:rs749740660Ensembl. | 1 | |
Natural variantiVAR_039030 | 205 | S → N in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004262 | 233 | L → P in LCATD. 1 PublicationCorresponds to variant dbSNP:rs28942087EnsemblClinVar. | 1 | |
Natural variantiVAR_039031 | 242 | K → N in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004263 | 252 | N → K in LCATD. 1 PublicationCorresponds to variant dbSNP:rs121908049EnsemblClinVar. | 1 | |
Natural variantiVAR_039032 | 268 | R → H in LCATD. 1 PublicationCorresponds to variant dbSNP:rs780824776Ensembl. | 1 | |
Natural variantiVAR_039033 | 298 | T → A in FED and LCATD. 2 Publications | 1 | |
Natural variantiVAR_039034 | 298 | T → I in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004265 | 317 | M → I in LCATD; partially defective enzyme. 2 PublicationsCorresponds to variant dbSNP:rs121908048EnsemblClinVar. | 1 | |
Natural variantiVAR_039035 | 331 | P → S in LCATD. 1 Publication | 1 | |
Natural variantiVAR_039036 | 333 | V → M in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs776035233EnsemblClinVar. | 1 | |
Natural variantiVAR_004266 | 345 | T → M in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs28940888EnsemblClinVar. | 1 | |
Natural variantiVAR_039038 | 406 | F → V in LCATD. 1 Publication | 1 |
Fish-eye disease (FED)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004252 | 34 | P → L in FED. 1 PublicationCorresponds to variant dbSNP:rs121908051EnsemblClinVar. | 1 | |
Natural variantiVAR_039021 | 34 | P → Q in FED. 1 Publication | 1 | |
Natural variantiVAR_039023 | 70 | V → E in FED. 1 PublicationCorresponds to variant dbSNP:rs748427834Ensembl. | 1 | |
Natural variantiVAR_066862 | 99 | W → S in FED; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_039026 | 123 | R → C in FED. 1 PublicationCorresponds to variant dbSNP:rs140068549EnsemblClinVar. | 1 | |
Natural variantiVAR_004256 | 147 | T → I in FED. 1 PublicationCorresponds to variant dbSNP:rs121908050EnsemblClinVar. | 1 | |
Natural variantiVAR_039027 | 159 | R → Q in FED. 1 PublicationCorresponds to variant dbSNP:rs768017317Ensembl. | 1 | |
Natural variantiVAR_004264 | 276 | M → K in FED. 1 PublicationCorresponds to variant dbSNP:rs121908054EnsemblClinVar. | 1 | |
Natural variantiVAR_039033 | 298 | T → A in FED and LCATD. 2 Publications | 1 | |
Natural variantiVAR_066867 | 338 | L → F in FED; results in reduced protein secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs1330635214Ensembl. | 1 | |
Natural variantiVAR_066868 | 347 | R → C in FED; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs202017590EnsemblClinVar. | 1 | |
Natural variantiVAR_004267 | 371 | T → M in FED. 1 PublicationCorresponds to variant dbSNP:rs121908053EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 173 | E → A: Increased activity towards PAPC. Increased PAPC/POPC activity ratio. 1 Publication | 1 | |
Mutagenesisi | 173 | E → D: Little change in enzyme specific activity nor in PAPC/POPC activity ratio. 1 Publication | 1 | |
Mutagenesisi | 173 | E → K: Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. 1 Publication | 1 | |
Mutagenesisi | 173 | E → L: Increased activity towards PAPC. Increased PAPC/POPC activity ratio. 1 Publication | 1 | |
Mutagenesisi | 173 | E → Q: Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. 1 Publication | 1 |
Keywords - Diseasei
Corneal dystrophy, Disease variantOrganism-specific databases
DisGeNETi | 3931 |
MalaCardsi | LCAT |
MIMi | 136120, phenotype 245900, phenotype |
OpenTargetsi | ENSG00000213398 |
Orphaneti | 79293, Familial LCAT deficiency 79292, Fish-eye disease |
PharmGKBi | PA226 |
Miscellaneous databases
Pharosi | P04180, Tbio |
Chemistry databases
ChEMBLi | CHEMBL5942 |
Genetic variation databases
BioMutai | LCAT |
DMDMi | 125993 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | 1 PublicationAdd BLAST | 24 | |
ChainiPRO_0000017802 | 25 – 440 | Phosphatidylcholine-sterol acyltransferaseAdd BLAST | 416 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 44 | N-linked (GlcNAc...) (complex) asparagine2 Publications | 1 | |
Disulfide bondi | 74 ↔ 98 | Combined sources2 Publications | ||
Glycosylationi | 108 | N-linked (GlcNAc...) (complex) asparagineCombined sources2 Publications | 1 | |
Glycosylationi | 296 | N-linked (GlcNAc...) (complex) asparagineCombined sources3 Publications | 1 | |
Disulfide bondi | 337 ↔ 380 | Combined sources2 Publications | ||
Glycosylationi | 408 | N-linked (GlcNAc...) (complex) asparagineCombined sources2 Publications | 1 | |
Glycosylationi | 431 | O-linked (GalNAc...) threonine1 Publication | 1 | |
Glycosylationi | 433 | O-linked (GalNAc...) serine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | P04180 |
MassIVEi | P04180 |
MaxQBi | P04180 |
PaxDbi | P04180 |
PeptideAtlasi | P04180 |
PRIDEi | P04180 |
ProteomicsDBi | 51671 |
PTM databases
GlyConnecti | 495, 13 N-Linked glycans (2 sites) |
GlyGeni | P04180, 7 sites, 18 N-linked glycans (3 sites) |
iPTMneti | P04180 |
PhosphoSitePlusi | P04180 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000213398, Expressed in right lobe of liver and 160 other tissues |
ExpressionAtlasi | P04180, baseline and differential |
Genevisiblei | P04180, HS |
Organism-specific databases
HPAi | ENSG00000213398, Tissue enriched (liver) |
Interactioni
Binary interactionsi
GO - Molecular functioni
- apolipoprotein A-I binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 110123, 6 interactors |
DIPi | DIP-29620N |
IntActi | P04180, 2 interactors |
STRINGi | 9606.ENSP00000264005 |
Chemistry databases
BindingDBi | P04180 |
Miscellaneous databases
RNActi | P04180, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P04180 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2369, Eukaryota |
GeneTreei | ENSGT00940000160052 |
InParanoidi | P04180 |
OMAi | WEDTKNL |
OrthoDBi | 828056at2759 |
PhylomeDBi | P04180 |
TreeFami | TF313258 |
Family and domain databases
Gene3Di | 3.40.50.1820, 3 hits |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR003386, LACT/PDAT_acylTrfase |
Pfami | View protein in Pfam PF02450, LCAT, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
PROSITEi | View protein in PROSITE PS00120, LIPASE_SER, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MGPPGSPWQW VTLLLGLLLP PAAPFWLLNV LFPPHTTPKA ELSNHTRPVI
60 70 80 90 100
LVPGCLGNQL EAKLDKPDVV NWMCYRKTED FFTIWLDLNM FLPLGVDCWI
110 120 130 140 150
DNTRVVYNRS SGLVSNAPGV QIRVPGFGKT YSVEYLDSSK LAGYLHTLVQ
160 170 180 190 200
NLVNNGYVRD ETVRAAPYDW RLEPGQQEEY YRKLAGLVEE MHAAYGKPVF
210 220 230 240 250
LIGHSLGCLH LLYFLLRQPQ AWKDRFIDGF ISLGAPWGGS IKPMLVLASG
260 270 280 290 300
DNQGIPIMSS IKLKEEQRIT TTSPWMFPSR MAWPEDHVFI STPSFNYTGR
310 320 330 340 350
DFQRFFADLH FEEGWYMWLQ SRDLLAGLPA PGVEVYCLYG VGLPTPRTYI
360 370 380 390 400
YDHGFPYTDP VGVLYEDGDD TVATRSTELC GLWQGRQPQP VHLLPLHGIQ
410 420 430 440
HLNMVFSNLT LEHINAILLG AYRQGPPASP TASPEPPPPE
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L0J6 | I3L0J6_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 80 | Annotation score: | ||
I3L1Q6 | I3L1Q6_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 107 | Annotation score: | ||
J3QSE5 | J3QSE5_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 255 | Annotation score: | ||
J3QKT0 | J3QKT0_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 138 | Annotation score: | ||
I3L3R0 | I3L3R0_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 93 | Annotation score: | ||
I3L215 | I3L215_HUMAN | Phosphatidylcholine-sterol acyltran... | LCAT | 61 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 257 | I → H in CAB56610 (PubMed:2823898).Curated | 1 | |
Sequence conflicti | 257 | I → H in AAA59499 (PubMed:2823898).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004251 | 17 | L → LLLPPAAPFWL in LCATD. | 1 | |
Natural variantiVAR_039020 | 29 | N → I in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004252 | 34 | P → L in FED. 1 PublicationCorresponds to variant dbSNP:rs121908051EnsemblClinVar. | 1 | |
Natural variantiVAR_039021 | 34 | P → Q in FED. 1 Publication | 1 | |
Natural variantiVAR_039022 | 37 | T → M in LCATD. 1 PublicationCorresponds to variant dbSNP:rs971887742Ensembl. | 1 | |
Natural variantiVAR_004253 | 54 | G → S in LCATD. 1 PublicationCorresponds to variant dbSNP:rs1461145750Ensembl. | 1 | |
Natural variantiVAR_004254 | 57 | G → R in LCATD. 1 Publication | 1 | |
Natural variantiVAR_039023 | 70 | V → E in FED. 1 PublicationCorresponds to variant dbSNP:rs748427834Ensembl. | 1 | |
Natural variantiVAR_039024 | 95 | G → R Found in a patient with intermediate phenotype between LCATD and FED; reduction of activity. 1 Publication | 1 | |
Natural variantiVAR_066862 | 99 | W → S in FED; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_039025 | 115 | S → P1 PublicationCorresponds to variant dbSNP:rs1412883954Ensembl. | 1 | |
Natural variantiVAR_004255 | 117 | A → T in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs28940886EnsemblClinVar. | 1 | |
Natural variantiVAR_039026 | 123 | R → C in FED. 1 PublicationCorresponds to variant dbSNP:rs140068549EnsemblClinVar. | 1 | |
Natural variantiVAR_066863 | 134 – 135 | EY → DN in a patient with low HDL-cholesterol levels; results in reduced activity. 1 Publication | 2 | |
Natural variantiVAR_004256 | 147 | T → I in FED. 1 PublicationCorresponds to variant dbSNP:rs121908050EnsemblClinVar. | 1 | |
Natural variantiVAR_039027 | 159 | R → Q in FED. 1 PublicationCorresponds to variant dbSNP:rs768017317Ensembl. | 1 | |
Natural variantiVAR_004257 | 159 | R → W in LCATD. 1 PublicationCorresponds to variant dbSNP:rs28940887EnsemblClinVar. | 1 | |
Natural variantiVAR_039028 | 164 | R → C in LCATD. 1 PublicationCorresponds to variant dbSNP:rs1380009545Ensembl. | 1 | |
Natural variantiVAR_004258 | 164 | R → H in LCATD; also found in a patient with intermediate phenotype between LCATD and FED; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs769485083Ensembl. | 1 | |
Natural variantiVAR_039029 | 165 | A → T1 PublicationCorresponds to variant dbSNP:rs1369994093Ensembl. | 1 | |
Natural variantiVAR_004259 | 171 | R → W in LCATD. 2 Publications | 1 | |
Natural variantiVAR_004260 | 180 | Y → N in LCATD. Corresponds to variant dbSNP:rs749740660Ensembl. | 1 | |
Natural variantiVAR_004261 | 182 | R → C2 PublicationsCorresponds to variant dbSNP:rs387906300EnsemblClinVar. | 1 | |
Natural variantiVAR_039030 | 205 | S → N in LCATD. 1 Publication | 1 | |
Natural variantiVAR_017030 | 232 | S → T3 PublicationsCorresponds to variant dbSNP:rs4986970EnsemblClinVar. | 1 | |
Natural variantiVAR_004262 | 233 | L → P in LCATD. 1 PublicationCorresponds to variant dbSNP:rs28942087EnsemblClinVar. | 1 | |
Natural variantiVAR_039031 | 242 | K → N in LCATD. 1 Publication | 1 | |
Natural variantiVAR_066864 | 246 | V → F in a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. 1 Publication | 1 | |
Natural variantiVAR_004263 | 252 | N → K in LCATD. 1 PublicationCorresponds to variant dbSNP:rs121908049EnsemblClinVar. | 1 | |
Natural variantiVAR_066865 | 268 | R → C in a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. 1 PublicationCorresponds to variant dbSNP:rs745320775Ensembl. | 1 | |
Natural variantiVAR_039032 | 268 | R → H in LCATD. 1 PublicationCorresponds to variant dbSNP:rs780824776Ensembl. | 1 | |
Natural variantiVAR_004264 | 276 | M → K in FED. 1 PublicationCorresponds to variant dbSNP:rs121908054EnsemblClinVar. | 1 | |
Natural variantiVAR_039033 | 298 | T → A in FED and LCATD. 2 Publications | 1 | |
Natural variantiVAR_039034 | 298 | T → I in LCATD. 1 Publication | 1 | |
Natural variantiVAR_004265 | 317 | M → I in LCATD; partially defective enzyme. 2 PublicationsCorresponds to variant dbSNP:rs121908048EnsemblClinVar. | 1 | |
Natural variantiVAR_066866 | 322 | R → C in a patient with low HDL-cholesterol levels; reduced protein secretion. 1 PublicationCorresponds to variant dbSNP:rs1407191796Ensembl. | 1 | |
Natural variantiVAR_039035 | 331 | P → S in LCATD. 1 Publication | 1 | |
Natural variantiVAR_039036 | 333 | V → M in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs776035233EnsemblClinVar. | 1 | |
Natural variantiVAR_066867 | 338 | L → F in FED; results in reduced protein secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs1330635214Ensembl. | 1 | |
Natural variantiVAR_004266 | 345 | T → M in LCATD. 2 PublicationsCorresponds to variant dbSNP:rs28940888EnsemblClinVar. | 1 | |
Natural variantiVAR_066868 | 347 | R → C in FED; results in reduced activity. 1 PublicationCorresponds to variant dbSNP:rs202017590EnsemblClinVar. | 1 | |
Natural variantiVAR_004267 | 371 | T → M in FED. 1 PublicationCorresponds to variant dbSNP:rs121908053EnsemblClinVar. | 1 | |
Natural variantiVAR_039037 | 396 | L → R in a patient with LCATD. 2 Publications | 1 | |
Natural variantiVAR_039038 | 406 | F → V in LCATD. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X04981 Genomic DNA Translation: CAA28651.1 M12625 mRNA Translation: AAA59498.1 AY422210 Genomic DNA Translation: AAR03499.1 BT009748 mRNA Translation: AAP88750.1 AC040162 Genomic DNA No translation available. CH471092 Genomic DNA Translation: EAW83190.1 BC014781 mRNA Translation: AAH14781.1 M26268 mRNA Translation: AAA59499.1 X06537 mRNA Translation: CAB56610.1 M17959 Genomic DNA Translation: AAA59500.1 |
CCDSi | CCDS10854.1 |
PIRi | A00571, XXHUN |
RefSeqi | NP_000220.1, NM_000229.1 |
Genome annotation databases
Ensembli | ENST00000264005; ENSP00000264005; ENSG00000213398 |
GeneIDi | 3931 |
KEGGi | hsa:3931 |
MANE-Selecti | ENST00000264005.10; ENSP00000264005.5; NM_000229.2; NP_000220.1 |
UCSCi | uc002euy.2, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Lecithin-cholesterol acyltransferase entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X04981 Genomic DNA Translation: CAA28651.1 M12625 mRNA Translation: AAA59498.1 AY422210 Genomic DNA Translation: AAR03499.1 BT009748 mRNA Translation: AAP88750.1 AC040162 Genomic DNA No translation available. CH471092 Genomic DNA Translation: EAW83190.1 BC014781 mRNA Translation: AAH14781.1 M26268 mRNA Translation: AAA59499.1 X06537 mRNA Translation: CAB56610.1 M17959 Genomic DNA Translation: AAA59500.1 |
CCDSi | CCDS10854.1 |
PIRi | A00571, XXHUN |
RefSeqi | NP_000220.1, NM_000229.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4X96 | X-ray | 8.69 | A/B/C/D | 45-421 | [»] | |
4XWG | X-ray | 2.65 | A | 25-440 | [»] | |
4XX1 | X-ray | 3.60 | A/B/J | 25-440 | [»] | |
5BV7 | X-ray | 2.45 | A | 25-440 | [»] | |
5TXF | X-ray | 3.10 | A/B/C/D | 25-440 | [»] | |
6MVD | X-ray | 3.10 | A/B | 45-421 | [»] | |
SMRi | P04180 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110123, 6 interactors |
DIPi | DIP-29620N |
IntActi | P04180, 2 interactors |
STRINGi | 9606.ENSP00000264005 |
Chemistry databases
BindingDBi | P04180 |
ChEMBLi | CHEMBL5942 |
SwissLipidsi | SLP:000000660 |
Protein family/group databases
ESTHERi | human-LCAT, PC-sterol_acyltransferase |
PTM databases
GlyConnecti | 495, 13 N-Linked glycans (2 sites) |
GlyGeni | P04180, 7 sites, 18 N-linked glycans (3 sites) |
iPTMneti | P04180 |
PhosphoSitePlusi | P04180 |
Genetic variation databases
BioMutai | LCAT |
DMDMi | 125993 |
Proteomic databases
jPOSTi | P04180 |
MassIVEi | P04180 |
MaxQBi | P04180 |
PaxDbi | P04180 |
PeptideAtlasi | P04180 |
PRIDEi | P04180 |
ProteomicsDBi | 51671 |
Protocols and materials databases
ABCDi | P04180, 3 sequenced antibodies |
Antibodypediai | 15960, 415 antibodies from 34 providers |
DNASUi | 3931 |
Genome annotation databases
Ensembli | ENST00000264005; ENSP00000264005; ENSG00000213398 |
GeneIDi | 3931 |
KEGGi | hsa:3931 |
MANE-Selecti | ENST00000264005.10; ENSP00000264005.5; NM_000229.2; NP_000220.1 |
UCSCi | uc002euy.2, human |
Organism-specific databases
CTDi | 3931 |
DisGeNETi | 3931 |
GeneCardsi | LCAT |
HGNCi | HGNC:6522, LCAT |
HPAi | ENSG00000213398, Tissue enriched (liver) |
MalaCardsi | LCAT |
MIMi | 136120, phenotype 245900, phenotype 606967, gene |
neXtProti | NX_P04180 |
OpenTargetsi | ENSG00000213398 |
Orphaneti | 79293, Familial LCAT deficiency 79292, Fish-eye disease |
PharmGKBi | PA226 |
VEuPathDBi | HostDB:ENSG00000213398 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2369, Eukaryota |
GeneTreei | ENSGT00940000160052 |
InParanoidi | P04180 |
OMAi | WEDTKNL |
OrthoDBi | 828056at2759 |
PhylomeDBi | P04180 |
TreeFami | TF313258 |
Enzyme and pathway databases
BRENDAi | 2.3.1.43, 2681 |
PathwayCommonsi | P04180 |
Reactomei | R-HSA-8964058, HDL remodeling |
SABIO-RKi | P04180 |
SignaLinki | P04180 |
SIGNORi | P04180 |
Miscellaneous databases
BioGRID-ORCSi | 3931, 8 hits in 1046 CRISPR screens |
ChiTaRSi | LCAT, human |
GeneWikii | Lecithin%E2%80%94cholesterol_acyltransferase |
GenomeRNAii | 3931 |
Pharosi | P04180, Tbio |
PROi | PR:P04180 |
RNActi | P04180, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000213398, Expressed in right lobe of liver and 160 other tissues |
ExpressionAtlasi | P04180, baseline and differential |
Genevisiblei | P04180, HS |
Family and domain databases
Gene3Di | 3.40.50.1820, 3 hits |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR003386, LACT/PDAT_acylTrfase |
Pfami | View protein in Pfam PF02450, LCAT, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
PROSITEi | View protein in PROSITE PS00120, LIPASE_SER, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | LCAT_HUMAN | |
Accessioni | P04180Primary (citable) accession number: P04180 Secondary accession number(s): Q53XQ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 1987 |
Last sequence update: | March 20, 1987 | |
Last modified: | February 23, 2022 | |
This is version 214 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families