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Protein

Phosphatidylcholine-sterol acyltransferase

Gene

LCAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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).6 Publications

Catalytic activityi

Phosphatidylcholine + a sterol = 1-acylglycerophosphocholine + a sterol ester.PROSITE-ProRule annotation8 Publications

Enzyme regulationi

APOA1 is the most potent activator in plasma. Also activated by APOE, APOC1 and APOA4.1 Publication

Kineticsi

Affinity for LDL is 2.3 to 4-fold lower than for HDL. Relative reactivities are 16% for HDL3, 1.3% for HDL2 and 6.5% for LDL.

  1. KM=0.97 mM for LDL1 Publication
  2. KM=0.4 mM for HDL21 Publication
  3. KM=0.10 mM for HDL31 Publication
  1. Vmax=8.3 mmol/min/mg enzyme with LDL as substrate1 Publication
  2. Vmax=0.58 mmol/min/mg enzyme with HDL2 as substrate1 Publication
  3. Vmax=2.0 mmol/min/mg enzyme with HDL3 as substrate1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei173 – 1731Determinant for substrate specificity1 Publication
Active sitei205 – 2051Nucleophile1 Publication
Active sitei369 – 3691Charge relay system1 Publication
Active sitei401 – 4011Charge relay system1 Publication

GO - Molecular functioni

  • apolipoprotein A-I binding Source: BHF-UCL
  • phosphatidylcholine-sterol O-acyltransferase activity Source: UniProtKB
  • phospholipase A2 activity Source: Ensembl

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
  • lipoprotein biosynthetic process Source: Ensembl
  • lipoprotein metabolic process Source: Reactome
  • 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
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

BRENDAi2.3.1.43. 2681.
ReactomeiR-HSA-194223. HDL-mediated lipid transport.
SABIO-RKP04180.

Protein family/group databases

ESTHERihuman-LCAT. PC-sterol_acyltransferase.

Chemistry

SwissLipidsiSLP:000000660.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylcholine-sterol acyltransferase (EC:2.3.1.437 Publications)
Alternative name(s):
Lecithin-cholesterol acyltransferase
Phospholipid-cholesterol acyltransferase
Gene namesi
Name:LCAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:6522. LCAT.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • high-density lipoprotein particle Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Lecithin-cholesterol acyltransferase deficiency (LCATD)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
See also OMIM:245900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → LLLPPAAPFWL in LCATD.
VAR_004251
Natural varianti29 – 291N → I in LCATD. 1 Publication
VAR_039020
Natural varianti37 – 371T → M in LCATD. 1 Publication
VAR_039022
Natural varianti54 – 541G → S in LCATD. 1 Publication
VAR_004253
Natural varianti57 – 571G → R in LCATD. 1 Publication
VAR_004254
Natural varianti95 – 951G → R in a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity. 1 Publication
VAR_039024
Natural varianti117 – 1171A → T in LCATD. 2 Publications
Corresponds to variant rs28940886 [ dbSNP | Ensembl ].
VAR_004255
Natural varianti159 – 1591R → W in LCATD. 1 Publication
Corresponds to variant rs28940887 [ dbSNP | Ensembl ].
VAR_004257
Natural varianti164 – 1641R → C in LCATD. 1 Publication
VAR_039028
Natural varianti164 – 1641R → H in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. 2 Publications
Corresponds to variant rs769485083 [ dbSNP | Ensembl ].
VAR_004258
Natural varianti171 – 1711R → W in LCATD. 2 Publications
VAR_004259
Natural varianti180 – 1801Y → N in LCATD.
VAR_004260
Natural varianti205 – 2051S → N in LCATD. 1 Publication
VAR_039030
Natural varianti233 – 2331L → P in LCATD. 1 Publication
Corresponds to variant rs28942087 [ dbSNP | Ensembl ].
VAR_004262
Natural varianti242 – 2421K → N in LCATD. 1 Publication
VAR_039031
Natural varianti252 – 2521N → K in LCATD. 1 Publication
Corresponds to variant rs121908049 [ dbSNP | Ensembl ].
VAR_004263
Natural varianti268 – 2681R → H in LCATD. 1 Publication
Corresponds to variant rs780824776 [ dbSNP | Ensembl ].
VAR_039032
Natural varianti298 – 2981T → A in FED and LCATD. 2 Publications
VAR_039033
Natural varianti298 – 2981T → I in LCATD. 1 Publication
VAR_039034
Natural varianti317 – 3171M → I in LCATD; partially defective enzyme. 2 Publications
Corresponds to variant rs121908048 [ dbSNP | Ensembl ].
VAR_004265
Natural varianti331 – 3311P → S in LCATD. 1 Publication
VAR_039035
Natural varianti333 – 3331V → M in LCATD. 2 Publications
Corresponds to variant rs776035233 [ dbSNP | Ensembl ].
VAR_039036
Natural varianti345 – 3451T → M in LCATD. 2 Publications
Corresponds to variant rs28940888 [ dbSNP | Ensembl ].
VAR_004266
Natural varianti396 – 3961L → R in a patient with LCATD. 2 Publications
VAR_039037
Natural varianti406 – 4061F → V in LCATD. 1 Publication
VAR_039038
Fish-eye disease (FED)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye').
See also OMIM:136120
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341P → L in FED. 1 Publication
Corresponds to variant rs121908051 [ dbSNP | Ensembl ].
VAR_004252
Natural varianti34 – 341P → Q in FED. 1 Publication
VAR_039021
Natural varianti70 – 701V → E in FED. 1 Publication
Corresponds to variant rs748427834 [ dbSNP | Ensembl ].
VAR_039023
Natural varianti95 – 951G → R in a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity. 1 Publication
VAR_039024
Natural varianti99 – 991W → S in FED; loss of activity. 1 Publication
VAR_066862
Natural varianti123 – 1231R → C in FED. 1 Publication
Corresponds to variant rs140068549 [ dbSNP | Ensembl ].
VAR_039026
Natural varianti147 – 1471T → I in FED. 1 Publication
Corresponds to variant rs121908050 [ dbSNP | Ensembl ].
VAR_004256
Natural varianti159 – 1591R → Q in FED. 1 Publication
Corresponds to variant rs768017317 [ dbSNP | Ensembl ].
VAR_039027
Natural varianti164 – 1641R → H in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. 2 Publications
Corresponds to variant rs769485083 [ dbSNP | Ensembl ].
VAR_004258
Natural varianti276 – 2761M → K in FED. 1 Publication
Corresponds to variant rs121908054 [ dbSNP | Ensembl ].
VAR_004264
Natural varianti298 – 2981T → A in FED and LCATD. 2 Publications
VAR_039033
Natural varianti338 – 3381L → F in FED; results in reduced protein secretion and activity. 1 Publication
VAR_066867
Natural varianti347 – 3471R → C in FED; results in reduced activity. 1 Publication
Corresponds to variant rs202017590 [ dbSNP | Ensembl ].
VAR_066868
Natural varianti371 – 3711T → M in FED. 1 Publication
Corresponds to variant rs121908053 [ dbSNP | Ensembl ].
VAR_004267

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi173 – 1731E → A: Increased activity towards PAPC. Increased PAPC/POPC activity ratio. 1 Publication
Mutagenesisi173 – 1731E → D: Little change in enzyme specific activity nor in PAPC/POPC activity ratio. 1 Publication
Mutagenesisi173 – 1731E → K: Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. 1 Publication
Mutagenesisi173 – 1731E → L: Increased activity towards PAPC. Increased PAPC/POPC activity ratio. 1 Publication
Mutagenesisi173 – 1731E → Q: Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. 1 Publication

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

MalaCardsiLCAT.
MIMi136120. phenotype.
245900. phenotype.
Orphaneti79293. Familial LCAT deficiency.
79292. Fish-eye disease.
PharmGKBiPA226.

Chemistry

ChEMBLiCHEMBL5942.

Polymorphism and mutation databases

BioMutaiLCAT.
DMDMi125993.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 24241 PublicationAdd
BLAST
Chaini25 – 440416Phosphatidylcholine-sterol acyltransferasePRO_0000017802Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi44 – 441N-linked (GlcNAc...) (complex)2 Publications
Disulfide bondi74 ↔ 98Combined sources2 Publications
Glycosylationi108 – 1081N-linked (GlcNAc...) (complex)Combined sources2 Publications
Glycosylationi296 – 2961N-linked (GlcNAc...) (complex)Combined sources3 Publications
Disulfide bondi337 ↔ 380Combined sources2 Publications
Glycosylationi408 – 4081N-linked (GlcNAc...) (complex)Combined sources2 Publications
Glycosylationi431 – 4311O-linked (GalNAc...)1 Publication
Glycosylationi433 – 4331O-linked (GalNAc...)1 Publication

Post-translational modificationi

O- and N-glycosylated. O-glycosylation on Thr-431 and Ser-433 consists of sialylated galactose beta 1-->3N-acetylgalactosamine structures. N-glycosylated sites contain sialylated triantennary and/or biantennary complex structures.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP04180.
PaxDbiP04180.
PeptideAtlasiP04180.
PRIDEiP04180.

PTM databases

iPTMnetiP04180.
PhosphoSiteiP04180.
UniCarbKBiP04180.

Expressioni

Tissue specificityi

Detected in blood plasma (PubMed:3458198, PubMed:8820107, PubMed:10222237). Detected in cerebral spinal fluid (at protein level) (PubMed:10222237). Detected in liver (PubMed:3797244, PubMed:3458198). Expressed mainly in brain, liver and testes.4 Publications

Gene expression databases

BgeeiENSG00000213398.
CleanExiHS_LCAT.
ExpressionAtlasiP04180. baseline and differential.
GenevisibleiP04180. HS.

Organism-specific databases

HPAiHPA044767.

Interactioni

GO - Molecular functioni

  • apolipoprotein A-I binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110123. 5 interactions.
DIPiDIP-29620N.
IntActiP04180. 1 interaction.
STRINGi9606.ENSP00000264005.

Chemistry

BindingDBiP04180.

Structurei

Secondary structure

1
440
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi49 – 524Combined sources
Beta strandi60 – 634Combined sources
Beta strandi82 – 865Combined sources
Helixi88 – 914Combined sources
Helixi95 – 1039Combined sources
Beta strandi105 – 1073Combined sources
Turni109 – 1113Combined sources
Beta strandi114 – 1174Combined sources
Beta strandi121 – 1233Combined sources
Turni125 – 1284Combined sources
Helixi131 – 1344Combined sources
Beta strandi135 – 1373Combined sources
Beta strandi142 – 1454Combined sources
Helixi146 – 1538Combined sources
Turni154 – 1563Combined sources
Turni160 – 1623Combined sources
Beta strandi163 – 1653Combined sources
Helixi174 – 1763Combined sources
Helixi178 – 19518Combined sources
Beta strandi199 – 2046Combined sources
Helixi206 – 21712Combined sources
Helixi220 – 2267Combined sources
Beta strandi227 – 2348Combined sources
Helixi242 – 2487Combined sources
Turni250 – 2523Combined sources
Turni255 – 2573Combined sources
Beta strandi270 – 2723Combined sources
Helixi274 – 2763Combined sources
Turni280 – 2823Combined sources
Beta strandi288 – 2914Combined sources
Beta strandi296 – 2983Combined sources
Helixi302 – 3087Combined sources
Helixi312 – 32110Combined sources
Turni322 – 3276Combined sources
Beta strandi335 – 35016Combined sources
Turni353 – 3575Combined sources
Beta strandi361 – 37313Combined sources
Helixi374 – 3774Combined sources
Helixi378 – 3836Combined sources
Beta strandi386 – 3894Combined sources
Beta strandi391 – 3977Combined sources
Helixi401 – 4033Combined sources
Turni404 – 4063Combined sources
Helixi408 – 41912Combined sources
Turni420 – 4223Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4X96X-ray8.69A/B/C/D45-421[»]
4XWGX-ray2.65A25-440[»]
4XX1X-ray3.60A/B/J25-440[»]
5BV7X-ray2.45A25-440[»]
ProteinModelPortaliP04180.
SMRiP04180. Positions 46-420.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi426 – 43914Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the AB hydrolase superfamily. Lipase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2369. Eukaryota.
ENOG410Y9CF. LUCA.
GeneTreeiENSGT00390000004902.
HOGENOMiHOG000238654.
HOVERGENiHBG017055.
InParanoidiP04180.
KOiK00650.
OMAiTHSTELC.
OrthoDBiEOG091G07S3.
PhylomeDBiP04180.
TreeFamiTF313258.

Family and domain databases

Gene3Di3.40.50.1820. 3 hits.
InterProiIPR029058. AB_hydrolase.
IPR003386. LACT/PDAT_acylTrfase.
[Graphical view]
PfamiPF02450. LCAT. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 2 hits.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P04180-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:440
Mass (Da):49,578
Last modified:March 20, 1987 - v1
Checksum:iB315EF118AA7A378
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti257 – 2571I → H in CAB56610 (PubMed:2823898).Curated
Sequence conflicti257 – 2571I → H in AAA59499 (PubMed:2823898).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → LLLPPAAPFWL in LCATD.
VAR_004251
Natural varianti29 – 291N → I in LCATD. 1 Publication
VAR_039020
Natural varianti34 – 341P → L in FED. 1 Publication
Corresponds to variant rs121908051 [ dbSNP | Ensembl ].
VAR_004252
Natural varianti34 – 341P → Q in FED. 1 Publication
VAR_039021
Natural varianti37 – 371T → M in LCATD. 1 Publication
VAR_039022
Natural varianti54 – 541G → S in LCATD. 1 Publication
VAR_004253
Natural varianti57 – 571G → R in LCATD. 1 Publication
VAR_004254
Natural varianti70 – 701V → E in FED. 1 Publication
Corresponds to variant rs748427834 [ dbSNP | Ensembl ].
VAR_039023
Natural varianti95 – 951G → R in a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity. 1 Publication
VAR_039024
Natural varianti99 – 991W → S in FED; loss of activity. 1 Publication
VAR_066862
Natural varianti115 – 1151S → P.1 Publication
VAR_039025
Natural varianti117 – 1171A → T in LCATD. 2 Publications
Corresponds to variant rs28940886 [ dbSNP | Ensembl ].
VAR_004255
Natural varianti123 – 1231R → C in FED. 1 Publication
Corresponds to variant rs140068549 [ dbSNP | Ensembl ].
VAR_039026
Natural varianti134 – 1352EY → DN in a patient with low HDL-cholesterol levels; results in reduced activity. 1 Publication
VAR_066863
Natural varianti147 – 1471T → I in FED. 1 Publication
Corresponds to variant rs121908050 [ dbSNP | Ensembl ].
VAR_004256
Natural varianti159 – 1591R → Q in FED. 1 Publication
Corresponds to variant rs768017317 [ dbSNP | Ensembl ].
VAR_039027
Natural varianti159 – 1591R → W in LCATD. 1 Publication
Corresponds to variant rs28940887 [ dbSNP | Ensembl ].
VAR_004257
Natural varianti164 – 1641R → C in LCATD. 1 Publication
VAR_039028
Natural varianti164 – 1641R → H in LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. 2 Publications
Corresponds to variant rs769485083 [ dbSNP | Ensembl ].
VAR_004258
Natural varianti165 – 1651A → T.1 Publication
VAR_039029
Natural varianti171 – 1711R → W in LCATD. 2 Publications
VAR_004259
Natural varianti180 – 1801Y → N in LCATD.
VAR_004260
Natural varianti182 – 1821R → C.2 Publications
Corresponds to variant rs387906300 [ dbSNP | Ensembl ].
VAR_004261
Natural varianti205 – 2051S → N in LCATD. 1 Publication
VAR_039030
Natural varianti232 – 2321S → T.3 Publications
Corresponds to variant rs4986970 [ dbSNP | Ensembl ].
VAR_017030
Natural varianti233 – 2331L → P in LCATD. 1 Publication
Corresponds to variant rs28942087 [ dbSNP | Ensembl ].
VAR_004262
Natural varianti242 – 2421K → N in LCATD. 1 Publication
VAR_039031
Natural varianti246 – 2461V → F in a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. 1 Publication
VAR_066864
Natural varianti252 – 2521N → K in LCATD. 1 Publication
Corresponds to variant rs121908049 [ dbSNP | Ensembl ].
VAR_004263
Natural varianti268 – 2681R → C in a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. 1 Publication
Corresponds to variant rs745320775 [ dbSNP | Ensembl ].
VAR_066865
Natural varianti268 – 2681R → H in LCATD. 1 Publication
Corresponds to variant rs780824776 [ dbSNP | Ensembl ].
VAR_039032
Natural varianti276 – 2761M → K in FED. 1 Publication
Corresponds to variant rs121908054 [ dbSNP | Ensembl ].
VAR_004264
Natural varianti298 – 2981T → A in FED and LCATD. 2 Publications
VAR_039033
Natural varianti298 – 2981T → I in LCATD. 1 Publication
VAR_039034
Natural varianti317 – 3171M → I in LCATD; partially defective enzyme. 2 Publications
Corresponds to variant rs121908048 [ dbSNP | Ensembl ].
VAR_004265
Natural varianti322 – 3221R → C in a patient with low HDL-cholesterol levels; reduced protein secretion. 1 Publication
VAR_066866
Natural varianti331 – 3311P → S in LCATD. 1 Publication
VAR_039035
Natural varianti333 – 3331V → M in LCATD. 2 Publications
Corresponds to variant rs776035233 [ dbSNP | Ensembl ].
VAR_039036
Natural varianti338 – 3381L → F in FED; results in reduced protein secretion and activity. 1 Publication
VAR_066867
Natural varianti345 – 3451T → M in LCATD. 2 Publications
Corresponds to variant rs28940888 [ dbSNP | Ensembl ].
VAR_004266
Natural varianti347 – 3471R → C in FED; results in reduced activity. 1 Publication
Corresponds to variant rs202017590 [ dbSNP | Ensembl ].
VAR_066868
Natural varianti371 – 3711T → M in FED. 1 Publication
Corresponds to variant rs121908053 [ dbSNP | Ensembl ].
VAR_004267
Natural varianti396 – 3961L → R in a patient with LCATD. 2 Publications
VAR_039037
Natural varianti406 – 4061F → V in LCATD. 1 Publication
VAR_039038

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.
CCDSiCCDS10854.1.
PIRiA00571. XXHUN.
RefSeqiNP_000220.1. NM_000229.1.
UniGeneiHs.387239.

Genome annotation databases

EnsembliENST00000264005; ENSP00000264005; ENSG00000213398.
GeneIDi3931.
KEGGihsa:3931.
UCSCiuc002euy.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS10854.1.
PIRiA00571. XXHUN.
RefSeqiNP_000220.1. NM_000229.1.
UniGeneiHs.387239.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4X96X-ray8.69A/B/C/D45-421[»]
4XWGX-ray2.65A25-440[»]
4XX1X-ray3.60A/B/J25-440[»]
5BV7X-ray2.45A25-440[»]
ProteinModelPortaliP04180.
SMRiP04180. Positions 46-420.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110123. 5 interactions.
DIPiDIP-29620N.
IntActiP04180. 1 interaction.
STRINGi9606.ENSP00000264005.

Chemistry

BindingDBiP04180.
ChEMBLiCHEMBL5942.
SwissLipidsiSLP:000000660.

Protein family/group databases

ESTHERihuman-LCAT. PC-sterol_acyltransferase.

PTM databases

iPTMnetiP04180.
PhosphoSiteiP04180.
UniCarbKBiP04180.

Polymorphism and mutation databases

BioMutaiLCAT.
DMDMi125993.

Proteomic databases

MaxQBiP04180.
PaxDbiP04180.
PeptideAtlasiP04180.
PRIDEiP04180.

Protocols and materials databases

DNASUi3931.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264005; ENSP00000264005; ENSG00000213398.
GeneIDi3931.
KEGGihsa:3931.
UCSCiuc002euy.2. human.

Organism-specific databases

CTDi3931.
GeneCardsiLCAT.
H-InvDBHIX0134431.
HGNCiHGNC:6522. LCAT.
HPAiHPA044767.
MalaCardsiLCAT.
MIMi136120. phenotype.
245900. phenotype.
606967. gene.
neXtProtiNX_P04180.
Orphaneti79293. Familial LCAT deficiency.
79292. Fish-eye disease.
PharmGKBiPA226.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2369. Eukaryota.
ENOG410Y9CF. LUCA.
GeneTreeiENSGT00390000004902.
HOGENOMiHOG000238654.
HOVERGENiHBG017055.
InParanoidiP04180.
KOiK00650.
OMAiTHSTELC.
OrthoDBiEOG091G07S3.
PhylomeDBiP04180.
TreeFamiTF313258.

Enzyme and pathway databases

BRENDAi2.3.1.43. 2681.
ReactomeiR-HSA-194223. HDL-mediated lipid transport.
SABIO-RKP04180.

Miscellaneous databases

ChiTaRSiLCAT. human.
GeneWikiiLecithin%E2%80%94cholesterol_acyltransferase.
GenomeRNAii3931.
PROiP04180.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213398.
CleanExiHS_LCAT.
ExpressionAtlasiP04180. baseline and differential.
GenevisibleiP04180. HS.

Family and domain databases

Gene3Di3.40.50.1820. 3 hits.
InterProiIPR029058. AB_hydrolase.
IPR003386. LACT/PDAT_acylTrfase.
[Graphical view]
PfamiPF02450. LCAT. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 2 hits.
PROSITEiPS00120. LIPASE_SER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLCAT_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 175 of the entry and version 1 of the sequence. [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

Miscellaneous

Levels of LCAT activity correlates inversely with leptin levels as well as with obesity for a wide range of BMI values.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.