Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3931
Gene name Gene Name - the full gene name approved by the HGNC.	Lecithin-cholesterol acyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LCAT
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940886	C>T	Pathogenic	Missense variant, coding sequence variant
rs28940887	G>A	Pathogenic	Missense variant, coding sequence variant
rs28940888	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs28942087	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908048	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908049	G>T	Pathogenic	Coding sequence variant, missense variant
rs121908050	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908053	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908054	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs121908055	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121908056	AGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs121908057	T>C	Pathogenic	Coding sequence variant, missense variant
rs140068549	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs267607211	A>G	Pathogenic	Missense variant, coding sequence variant
rs387906300	G>A	Pathogenic	Missense variant, coding sequence variant
rs776035233	C>T	Pathogenic	Coding sequence variant, missense variant
rs779114194	T>C	Pathogenic	Coding sequence variant, missense variant
rs794726662	->CGC	Pathogenic	Coding sequence variant, inframe insertion
rs794726663	->T	Pathogenic	Coding sequence variant, frameshift variant
rs794726664	A>G	Pathogenic	Intron variant

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029711	hsa-miR-26b-5p	Microarray	19088304
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT711551	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT711550	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711549	hsa-miR-8064	HITS-CLIP	19536157
MIRT711548	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT711547	hsa-miR-3152-5p	HITS-CLIP	19536157

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
SP1	Unknown	9610763
SP3	Unknown	9610763
STAT3	Unknown	12032172

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	IDA	8016111
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	IBA	21873635
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	IDA	4335615, 10559507, 26195816
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	NAS	11966470
GO:0004607	Function	Phosphatidylcholine-sterol O-acyltransferase activity	TAS
GO:0004806	Function	Triglyceride lipase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	1587806, 11435418, 17676061, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	3458198, 4335615, 8016111, 10559507
GO:0006629	Process	Lipid metabolic process	IBA	21873635
GO:0006644	Process	Phospholipid metabolic process	IDA	4335615
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	11966470
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IMP	12354767
GO:0008203	Process	Cholesterol metabolic process	IDA	4335615, 10559507, 26195816
GO:0030301	Process	Cholesterol transport	IDA	10559507
GO:0034186	Function	Apolipoprotein A-I binding	IPI	1587806
GO:0034364	Component	High-density lipoprotein particle	IDA	3104518
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	IDA	15654758
GO:0034375	Process	High-density lipoprotein particle remodeling	IDA	4335615, 10722751, 12167653, 15210842
GO:0034375	Process	High-density lipoprotein particle remodeling	TAS
GO:0034435	Process	Cholesterol esterification	IDA	3458198, 4335615, 24620755, 26195816
GO:0042158	Process	Lipoprotein biosynthetic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IDA	4335615
GO:0043691	Process	Reverse cholesterol transport	IDA	4335615
GO:0046470	Process	Phosphatidylcholine metabolic process	IDA	26195816
GO:0047179	Function	Platelet-activating factor acetyltransferase activity	IDA	8016111
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090107	Process	Regulation of high-density lipoprotein particle assembly	IEA

MIM	HGNC	e!Ensembl
606967	6522	ENSG00000213398

Protein

UniProt ID

P04180

Protein name

Phosphatidylcholine-sterol acyltransferase (EC 2.3.1.43) (1-alkyl-2-acetylglycerophosphocholine esterase) (EC 3.1.1.47) (Lecithin-cholesterol acyltransferase) (Phospholipid-cholesterol acyltransferase) (Platelet-activating factor acetylhydrolase) (PAF ace

Protein function

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

PDB

4X96 , 4XWG , 4XX1 , 5BV7 , 5TXF , 6MVD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02450	LCAT	81 → 408	Lecithin:cholesterol acyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in blood plasma (PubMed:10222237, PubMed:3458198, PubMed:8820107). Detected in cerebral spinal fluid (at protein level) (PubMed:10222237). Detected in liver (PubMed:3458198, PubMed:3797244). Expressed mainly in brain, liver an

Sequence

MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSNHTRPVILVPGCLGNQL
EAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDNTRVVYNRSSGLVSNAPGV
QIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRDETVRAAPYDWRLEPGQQEEY
YRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQPQAWKDRFIDGFISLGAPWGGS
IKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWMFPSRMAWPEDHVFISTPSFNYTGR
DFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVEVYCLYGVGLPTPRTYIYDHGFPYTDP
VGVLYEDGDDTVATRSTELCGLWQGRQPQPVHLLPLHGIQHLNMVFSNLTLEHINAILLG
AYRQGPPASPTASPEPPPPE

Sequence length

440

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Cholesterol metabolism		HDL remodeling

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	31164121
Fish-eye disease	Fish-Eye Disease, Fish-eye disease	rs121908050, rs121908051, rs121908056, rs121908057, rs794726664	27604308, 9162740, 1571050, 21901787, 8620346, 9261271, 1681161, 15994445, 1516702, 1737840
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034 View all (1161 more)
Lcat deficiency	Familial LCAT deficiency	rs267607211, rs121908048, rs794726662, rs121908049, rs121908054, rs28942087, rs28940887, rs794726663, rs28940888, rs121908055, rs776035233, rs779114194, rs140068549
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Atherosclerosis	Atherosclerosis	ClinVar
Crohn Disease	Crohn Disease	GWAS

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining
Anemia	Associate	31164121
Anemia Sickle Cell	Associate	28436274
Atherosclerosis	Associate	22133847, 29748187, 30333156
Bone Diseases	Inhibit	35235770
Carcinoma Hepatocellular	Associate	31695766, 32813933, 34034705, 34147074, 35196258, 36894886, 37215201, 39380994, 40389832, 40500772
Cardiovascular Diseases	Associate	23078883, 27112635
Corneal Dystrophies Hereditary	Associate	10869098
Corneal Opacity	Associate	31164121
Coronary Artery Disease	Associate	8675648
Coronary Disease	Associate	30479275
De Barsy syndrome	Associate	8445342
Diabetes Mellitus	Inhibit	10412780
Diabetes Mellitus	Associate	30055622, 8820100
Dyslipidemias	Associate	28315561, 29084231, 29758034
Genetic Diseases Inborn	Associate	8755645, 8820100
Glomerulonephritis Membranous	Associate	37511514
Hemolytic Uremic Syndrome	Inhibit	10412780
Hemolytic Uremic Syndrome	Associate	6482172
HIV Infections	Associate	33173066
Hydrocephalus Normal Pressure	Associate	34360799
Hyperlipoproteinemia Type II	Associate	27112635
Hypertriglyceridemia	Associate	26687706
Hypoalphalipoproteinemias	Associate	1737840, 22658148, 30333156, 31164121
Hypobetalipoproteinemias	Associate	22658148
Hypogonadism	Associate	25565309
Hypoxia	Associate	37481543
Kidney Diseases	Associate	28576974
Lecithin Cholesterol Acyltransferase Deficiency	Associate	10450185, 10849435, 1516702, 1737840, 19687369, 2052566, 21597230, 25589508, 28576974, 29748187, 30479275, 31164121, 39537502, 7721870, 7989589 View all (5 more)
Lecithin Cholesterol Acyltransferase Deficiency	Inhibit	17183024, 21597230, 22658148, 30529744, 35598637, 7294021, 8445342
Liver Cirrhosis	Associate	35235770
Liver Diseases	Associate	35235770
Liver Failure	Inhibit	35235770
Lupus Erythematosus Systemic	Associate	32678854
Lysosomal acid lipase deficiency	Associate	32058863
Macular Degeneration	Associate	37447314
Metabolic Diseases	Associate	29084231, 35598637
Metabolic Syndrome	Associate	30055622
Neoplasms	Inhibit	37215201
Nephritis Interstitial	Associate	25565309
Nephrotic Syndrome	Stimulate	37511514
Obesity	Associate	29758034
Optic Nerve Hypoplasia	Associate	32602905
Osteoporosis	Associate	37447314
Proteinuria	Associate	8445342
Pseudohypoparathyroidism	Associate	35235770
Rhinitis Allergic	Associate	31185305
Stiff Skin Syndrome	Associate	23078883
Tangier Disease	Associate	26687706
Weight Loss	Associate	28545455

LCAT (lecithin-cholesterol acyltransferase)