APOA1

Functionⁱ

Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.1 Publication

GO - Molecular functionⁱ

amyloid-beta binding
Source: BHF-UCL
Inferred from direct assayⁱ
- "Apolipoprotein A-I directly interacts with amyloid precursor protein and inhibits A beta aggregation and toxicity."
  Koldamova R.P., Lefterov I.M., Lefterova M.I., Lazo J.S.
  Biochemistry 40:3553-3560(2001) [PubMed] [Europe PMC] [Abstract]
apolipoprotein A-I receptor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Apolipoprotein A-I activates Cdc42 signaling through the ABCA1 transporter."
  Nofer J.R., Remaley A.T., Feuerborn R., Wolinnska I., Engel T., von Eckardstein A., Assmann G.
  J Lipid Res 47:794-803(2006) [PubMed] [Europe PMC] [Abstract]
apolipoprotein receptor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Apolipoprotein specificity for lipid efflux by the human ABCAI transporter."
  Remaley A.T., Stonik J.A., Demosky S.J., Neufeld E.B., Bocharov A.V., Vishnyakova T.G., Eggerman T.L., Patterson A.P., Duverger N.J., Santamarina-Fojo S., Brewer H.B. Jr.
  Biochem Biophys Res Commun 280:818-823(2001) [PubMed] [Europe PMC] [Abstract]
chemorepellent activity
Source: UniProtKB
Inferred from direct assayⁱ
- "Apolipoprotein(a) acts as a chemorepellent to human vascular smooth muscle cells via integrin alphaVbeta3 and RhoA/ROCK-mediated mechanisms."
  Riches K., Franklin L., Maqbool A., Peckham M., Adams M., Bond J., Warburton P., Feric N.T., Koschinsky M.L., O'Regan D.J., Ball S.G., Turner N.A., Porter K.E.
  Int J Biochem Cell Biol 45:1776-1783(2013) [PubMed] [Europe PMC] [Abstract]
cholesterol binding
Source: BHF-UCL
Inferred from direct assayⁱ
- "A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease."
  Hovingh G.K., Brownlie A., Bisoendial R.J., Dube M.P., Levels J.H., Petersen W., Dullaart R.P., Stroes E.S., Zwinderman A.H., de Groot E., Hayden M.R., Kuivenhoven J.A., Kastelein J.J.
  J Am Coll Cardiol 44:1429-1435(2004) [PubMed] [Europe PMC] [Abstract]
cholesterol transfer activity
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- "A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease."
  Hovingh G.K., Brownlie A., Bisoendial R.J., Dube M.P., Levels J.H., Petersen W., Dullaart R.P., Stroes E.S., Zwinderman A.H., de Groot E., Hayden M.R., Kuivenhoven J.A., Kastelein J.J.
  J Am Coll Cardiol 44:1429-1435(2004) [PubMed] [Europe PMC] [Abstract]
enzyme binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Interaction of rat lecithin-cholesterol acyltransferase with rat apolipoprotein A-I and with lecithin-cholesterol vesicles."
  Furukawa Y., Urano T., Hida Y., Itoh H., Takahashi C., Kimura S.
  J Biochem 111:413-418(1992) [PubMed] [Europe PMC] [Abstract]
heat shock protein binding
Source: CAFA
Inferred from physical interactionⁱ
- "Heat shock protein 60 is a high-affinity high-density lipoprotein binding protein."
  Bocharov A.V., Vishnyakova T.G., Baranova I.N., Remaley A.T., Patterson A.P., Eggerman T.L.
  Biochem Biophys Res Commun 277:228-235(2000) [PubMed] [Europe PMC] [Abstract]
high-density lipoprotein particle binding Source: Ensembl
high-density lipoprotein particle receptor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- "Apolipoprotein AII enrichment of HDL enhances their affinity for class B type I scavenger receptor but inhibits specific cholesteryl ester uptake."
  Pilon A., Briand O., Lestavel S., Copin C., Majd Z., Fruchart J.C., Castro G., Clavey V.
  Arterioscler Thromb Vasc Biol 20:1074-1081(2000) [PubMed] [Europe PMC] [Abstract]
- "Binding and internalization of lipopolysaccharide by Cla-1, a human orthologue of rodent scavenger receptor B1."
  Vishnyakova T.G., Bocharov A.V., Baranova I.N., Chen Z., Remaley A.T., Csako G., Eggerman T.L., Patterson A.P.
  J Biol Chem 278:22771-22780(2003) [PubMed] [Europe PMC] [Abstract]
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- "The refined structure of nascent HDL reveals a key functional domain for particle maturation and dysfunction."
  Wu Z., Wagner M.A., Zheng L., Parks J.S., Shy J.M., Smith J.D., Gogonea V., Hazen S.L.
  Nat Struct Mol Biol 14:861-868(2007) [PubMed] [Europe PMC] [Abstract]
- "Structure of apolipoprotein A-I in spherical high density lipoproteins of different sizes."
  Silva R.A., Huang R., Morris J., Fang J., Gracheva E.O., Ren G., Kontush A., Jerome W.G., Rye K.A., Davidson W.S.
  Proc Natl Acad Sci U S A 105:12176-12181(2008) [PubMed] [Europe PMC] [Abstract]
- "Methionine oxidation induces amyloid fibril formation by full-length apolipoprotein A-I."
  Wong Y.Q., Binger K.J., Howlett G.J., Griffin M.D.
  Proc Natl Acad Sci U S A 107:1977-1982(2010) [PubMed] [Europe PMC] [Abstract]
- "Novel N-terminal mutation of human apolipoprotein A-I reduces self-association and impairs LCAT activation."
  Weers P.M., Patel A.B., Wan L.C., Guigard E., Kay C.M., Hafiane A., McPherson R., Marcel Y.L., Kiss R.S.
  J Lipid Res 52:35-44(2011) [PubMed] [Europe PMC] [Abstract]
- "The fibrillogenic L178H variant of apolipoprotein A-I forms helical fibrils."
  Petrlova J., Duong T., Cochran M.C., Axelsson A., Morgelin M., Roberts L.M., Lagerstedt J.O.
  J Lipid Res 53:390-398(2012) [PubMed] [Europe PMC] [Abstract]
- "Identification of an amyloid fibril forming peptide comprising residues 46-59 of apolipoprotein A-I."
  Wong Y.Q., Binger K.J., Howlett G.J., Griffin M.D.
  FEBS Lett 586:1754-1758(2012) [PubMed] [Europe PMC] [Abstract]
- "The extreme N-terminal region of human apolipoprotein A-I has a strong propensity to form amyloid fibrils."
  Adachi E., Kosaka A., Tsuji K., Mizuguchi C., Kawashima H., Shigenaga A., Nagao K., Akaji K., Otaka A., Saito H.
  FEBS Lett 588:389-394(2014) [PubMed] [Europe PMC] [Abstract]
- "Amyloidogenic mutations in human apolipoprotein A-I are not necessarily destabilizing - a common mechanism of apolipoprotein A-I misfolding in familial amyloidosis and atherosclerosis."
  Das M., Mei X., Jayaraman S., Atkinson D., Gursky O.
  FEBS J 281:2525-2542(2014) [PubMed] [Europe PMC] [Abstract]
lipase inhibitor activity Source: Ensembl
phosphatidylcholine binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
  Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
  Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
phosphatidylcholine-sterol O-acyltransferase activator activity
Source: BHF-UCL
Inferred from direct assayⁱ
- "A protein cofactor of lecithin:cholesterol acyltransferase."
  Fielding C.J., Shore V.G., Fielding P.E.
  Biochem Biophys Res Commun 46:1493-1498(1972) [PubMed] [Europe PMC] [Abstract]
phospholipid binding
Source: BHF-UCL
Inferred from direct assayⁱ
- "Structure and interfacial properties of human apolipoprotein A-V."
  Weinberg R.B., Cook V.R., Beckstead J.A., Martin D.D.O., Gallagher J.W., Shelness G.S., Ryan R.O.
  J. Biol. Chem. 278:34438-34444(2003) [PubMed] [Europe PMC] [Abstract]
signaling receptor binding
Source: ARUK-UCL
Inferred from physical interactionⁱ
- "TREM2 Binds to Apolipoproteins, Including APOE and CLU/APOJ, and Thereby Facilitates Uptake of Amyloid-Beta by Microglia."
  Yeh F.L., Wang Y., Tom I., Gonzalez L.C., Sheng M.
  Neuron 91:328-340(2016) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Biological process

Cholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

PathwayCommonsⁱ	P02647
Reactomeⁱ	R-HSA-114608, Platelet degranulation R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-1989781, PPARA activates gene expression R-HSA-2168880, Scavenging of heme from plasma R-HSA-3000471, Scavenging by Class B Receptors R-HSA-3000480, Scavenging by Class A Receptors R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-5682113, Defective ABCA1 causes TGD R-HSA-8957275, Post-translational protein phosphorylation R-HSA-8963888, Chylomicron assembly R-HSA-8963896, HDL assembly R-HSA-8963901, Chylomicron remodeling R-HSA-8964011, HDL clearance R-HSA-8964058, HDL remodeling R-HSA-975634, Retinoid metabolism and transport R-HSA-977225, Amyloid fiber formation
SIGNORⁱ	P02647

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Apolipoprotein A-ICurated Short name: Apo-AI Short name: ApoA-I Alternative name(s): Apolipoprotein A1 Cleaved into the following 2 chains: Proapolipoprotein A-I Short name: ProapoA-I Truncated apolipoprotein A-I Alternative name(s): Apolipoprotein A-I(1-242)
Gene namesⁱ	Name:APOA1Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:600, APOA1
MIMⁱ	107680, gene
neXtProtⁱ	NX_P02647
VEuPathDBⁱ	HostDB:ENSG00000118137.9

Keywords - Cellular componentⁱ

Amyloid, HDL, Secreted

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hypoalphalipoproteinemia, primary, 2 (FHA2)3 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA rare disorder of lipoprotein metabolism, biochemically characterized by complete or partial apoA-I deficiency and mild to severe reduction of serum high-density lipoprotein cholesterol (HDL-C). Severe hypoalphalipoproteinemia characterized by undetectable levels of apoA-I is an autosomal recessive condition, generally associated with markedly increased atherosclerotic cardiovascular disease, xanthomas and corneal opacities. Mild hypoalphalipoproteinemia characterized by half the normal plasma apoA-I and HDL-C levels is inherited as an autosomal dominant trait, may be associated with xanthomas and corneal opacities, but most patients do not have increased cardiovascular risk.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_083307	23 – 267	Missing in FHA2; no protein expression. 1 PublicationAdd BLAST		245
Natural variantⁱVAR_083309	108 – 267	Missing in FHA2; missing protein expression. 1 PublicationAdd BLAST		160

APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed:3142462 and PubMed:2123470). The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis.

Amyloidosis 8 (AMYL8)7 Publications

The disease is caused by variants affecting the gene represented in this entry.

Disease descriptionA form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_000609	50	G → R in AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa. 4 PublicationsCorresponds to variant dbSNP:rs28931574EnsemblClinVar.	1
Natural variantⁱVAR_000610	84	L → R in AMYL8. 1 PublicationCorresponds to variant dbSNP:rs121912724Ensembl.	1
Natural variantⁱVAR_083310	173	R → P in AMYL8; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_083311	198	L → S in AMYL8; plasma level of HDL and apoA-I protein were significantly lower in the patient. 1 Publication	1
Natural variantⁱVAR_083312	199	A → P in AMYL8; unknown pathological significance. 1 Publication	1

Keywords - Diseaseⁱ

Amyloidosis, Atherosclerosis, Disease variant, Neuropathy

Organism-specific databases

DisGeNET More...DisGeNETⁱ	335
MalaCards human disease database More...MalaCardsⁱ	APOA1
MIMⁱ	105200, phenotype 618463, phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000118137
Orphanetⁱ	93560, AApoAI amyloidosis 425, Apolipoprotein A-I deficiency
PharmGKBⁱ	PA49

Miscellaneous databases

Pharosⁱ	P02647, Tbio

Pharosⁱ

P02647, Tbio

Chemistry databases

ChEMBLⁱ	CHEMBL5984
Drug and drug target database More...DrugBankⁱ	DB09130, Copper DB01593, Zinc DB14487, Zinc acetate DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form

Genetic variation databases

BioMutaⁱ	APOA1
DMDMⁱ	113992

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Length
Signal peptideⁱ	1 – 18	2 PublicationsAdd BLAST	18
ChainⁱPRO_0000425323	19 – 267	Proapolipoprotein A-IAdd BLAST	249
ChainⁱPRO_0000001939	25 – 267	Apolipoprotein A-IAdd BLAST	243
ChainⁱPRO_0000001940	25 – 266	Truncated apolipoprotein A-IAdd BLAST	242

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	110	Methionine sulfoxide1 Publication	1
Modified residueⁱ	136	Methionine sulfoxide1 Publication	1
Glycosylationⁱ	263	N-linked (Glc) (glycation) lysine1 Publication	1

Post-translational modificationⁱ

Glycosylated.By similarity

Palmitoylated.1 Publication

Phosphorylation sites are present in the extracellular medium.

Keywords - PTMⁱ

Glycation, Glycoprotein, Lipoprotein, Oxidation, Palmitate, Phosphoprotein

Proteomic databases

The CPTAC Assay portal More...CPTACⁱ	non-CPTAC-1075 non-CPTAC-1076
EPDⁱ	P02647
jPOSTⁱ	P02647
MassIVEⁱ	P02647
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P02647
PaxDbⁱ	P02647
PeptideAtlas More...PeptideAtlasⁱ	P02647
PRIDEⁱ	P02647
ProteomicsDBⁱ	51536
TopDownProteomicsⁱ	P02647

2D gel databases

DOSAC-COBS 2D-PAGE database More...DOSAC-COBS-2DPAGEⁱ	P02647
USC-OGP 2-DE database More...OGPⁱ	P02647
REPRODUCTION-2DPAGE More...REPRODUCTION-2DPAGEⁱ	IPI00021841 P02647
SWISS-2DPAGEⁱ	P02647
UCD-2DPAGEⁱ	P02647

PTM databases

CarbonylDBⁱ	P02647
iPTMnetⁱ	P02647
MetOSiteⁱ	P02647
PhosphoSitePlusⁱ	P02647

Expressionⁱ

Tissue specificityⁱ

Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000118137, Expressed in duodenum and 126 other tissues
ExpressionAtlasⁱ	P02647, baseline and differential
Genevisibleⁱ	P02647, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000118137, Tissue enriched (liver)

HPAⁱ

ENSG00000118137, Tissue enriched (liver)

Interactionⁱ

Subunit structureⁱ

Homodimer (By similarity).

Interacts with NAXE and CLU (PubMed:1742316, PubMed:11991719).

Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin (PubMed:1909888).

Interacts with NDRG1 (PubMed:15922294).

Interacts with SCGB3A2 (PubMed:12847263).

Interacts with NAXE and YJEFN3 (PubMed:23719382).

By similarity6 Publications

Binary interactionsⁱ

Hide details

P02647

With	#Exp.	IntAct
ABCA1 [O95477]	8	EBI-701692,EBI-784112
itself	28	EBI-701692,EBI-701692
APP [P05067]	8	EBI-701692,EBI-77613
C1QBP [Q07021]	2	EBI-701692,EBI-347528
CMTM5 [Q96DZ9]	3	EBI-701692,EBI-2548702
CMTM5 - isoform 2 [Q96DZ9-2]	6	EBI-701692,EBI-11522780
HP [P00738]	3	EBI-701692,EBI-1220767
LAMP2 - isoform LAMP-2B [P13473-2]	3	EBI-701692,EBI-21591415
LCAT [P04180]	2	EBI-701692,EBI-9104464
SH3GLB1 [Q9Y371]	3	EBI-701692,EBI-2623095
SNCA [P37840]	3	EBI-701692,EBI-985879

GO - Molecular functionⁱ

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	106832, 102 interactors
CORUMⁱ	P02647
Database of interacting proteins More...DIPⁱ	DIP-29619N
IntActⁱ	P02647, 89 interactors
Molecular INTeraction database More...MINTⁱ	P02647
STRINGⁱ	9606.ENSP00000236850

Miscellaneous databases

RNActⁱ	P02647, protein

RNActⁱ

P02647, protein

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	33 – 42	Combined sources	10
Helixⁱ	45 – 59	Combined sources	15
Helixⁱ	61 – 65	Combined sources	5
Helixⁱ	80 – 88	Combined sources	9
Helixⁱ	93 – 158	Combined sources	66
Turnⁱ	159 – 164	Combined sources	6
Helixⁱ	166 – 203	Combined sources	38
Turnⁱ	229 – 232	Combined sources	4
Helixⁱ	233 – 260	Combined sources	28

Show more details

3D structure databases

BMRBⁱ	P02647
SMRⁱ	P02647
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P02647

EvolutionaryTraceⁱ

P02647

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	68 – 89	1Add BLAST	22
Repeatⁱ	90 – 111	2Add BLAST	22
Repeatⁱ	112 – 122	3; half-lengthAdd BLAST	11
Repeatⁱ	123 – 144	4Add BLAST	22
Repeatⁱ	145 – 166	5Add BLAST	22
Repeatⁱ	167 – 188	6Add BLAST	22
Repeatⁱ	189 – 210	7Add BLAST	22
Repeatⁱ	211 – 232	8Add BLAST	22
Repeatⁱ	233 – 243	9; half-lengthAdd BLAST	11
Repeatⁱ	244 – 267	10Add BLAST	24

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	68 – 267	10 X approximate tandem repeatsAdd BLAST		200

Sequence similaritiesⁱ

Belongs to the apolipoprotein A1/A4/E family.Curated

Keywords - Domainⁱ

Repeat, Signal

Phylogenomic databases

eggNOGⁱ	ENOG502S1XQ, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00950000182929
HOGENOMⁱ	CLU_058447_1_0_1
InParanoidⁱ	P02647
OMAⁱ	KEVREMW
Database of Orthologous Groups More...OrthoDBⁱ	1553412at2759
PhylomeDBⁱ	P02647
TreeFamⁱ	TF334458

Family and domain databases

InterProⁱ	View protein in InterPro IPR000074, ApoA_E
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01442, Apolipoprotein, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

P02647-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MKAAVLTLAV LFLTGSQARH FWQQDEPPQS PWDRVKDLAT VYVDVLKDSG 
        60         70         80         90        100
RDYVSQFEGS ALGKQLNLKL LDNWDSVTST FSKLREQLGP VTQEFWDNLE 
       110        120        130        140        150
KETEGLRQEM SKDLEEVKAK VQPYLDDFQK KWQEEMELYR QKVEPLRAEL 
       160        170        180        190        200
QEGARQKLHE LQEKLSPLGE EMRDRARAHV DALRTHLAPY SDELRQRLAA 
       210        220        230        240        250
RLEALKENGG ARLAEYHAKA TEHLSTLSEK AKPALEDLRQ GLLPVLESFK 
       260 
VSFLSALEEY TKKLNTQ

Length:267

Mass (Da):30,778

Last modified:July 21, 1986 - v1

Checksum:ⁱ1A28B8366E620310

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	F8W696	F8W696_HUMAN		Apolipoprotein A-I Apolipoprotein A-I	APOA1	245	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	32	W → P AA sequence (PubMed:1742316).Curated		1

Mass spectrometryⁱ

Apolipoprotein A-I:

Molecular mass is 28081 Da. Determined by ESI. Without methionine sulfoxide.1 Publication

Apolipoprotein A-I:

Molecular mass is 28098 Da. Determined by ESI. With 1 methionine sulfoxide, oxidation at Met-110.1 Publication

Apolipoprotein A-I:

Molecular mass is 28095 Da. Determined by ESI. With 1 methionine sulfoxide, oxidation at Met-136.1 Publication

Apolipoprotein A-I:

Molecular mass is 28114 Da. Determined by ESI. With 2 methionine sulfoxides, oxidation at Met-110 and Met-136.1 Publication

Polymorphismⁱ

Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIMⁱ:107680].Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_083307	23 – 267	Missing in FHA2; no protein expression. 1 PublicationAdd BLAST	245
Natural variantⁱVAR_000605	27	P → H in Munster-3C. Corresponds to variant dbSNP:rs121912720EnsemblClinVar.	1
Natural variantⁱVAR_000606	27	P → R1 PublicationCorresponds to variant dbSNP:rs121912720EnsemblClinVar.	1
Natural variantⁱVAR_000607	28	P → R in Munster-3B. 1 PublicationCorresponds to variant dbSNP:rs121912721EnsemblClinVar.	1
Natural variantⁱVAR_000608	34	R → L in Baltimore. 1 PublicationCorresponds to variant dbSNP:rs28929476EnsemblClinVar.	1
Natural variantⁱVAR_000609	50	G → R in AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa. 4 PublicationsCorresponds to variant dbSNP:rs28931574EnsemblClinVar.	1
Natural variantⁱVAR_083308	56 – 267	Missing in HDL deficiency; with periorbital xanthelasmas; decreased protein abundance. 1 PublicationAdd BLAST	212
Natural variantⁱVAR_025445	61	A → T2 PublicationsCorresponds to variant dbSNP:rs12718465EnsemblClinVar.	1
Natural variantⁱVAR_000610	84	L → R in AMYL8. 1 PublicationCorresponds to variant dbSNP:rs121912724Ensembl.	1
Natural variantⁱVAR_017017	92	T → I Confirmed at protein level. 2 PublicationsCorresponds to variant dbSNP:rs766422306Ensembl.	1
Natural variantⁱVAR_083309	108 – 267	Missing in FHA2; missing protein expression. 1 PublicationAdd BLAST	160
Natural variantⁱVAR_000611	113	D → E1 PublicationCorresponds to variant dbSNP:rs150243849Ensembl.	1
Natural variantⁱVAR_000612	119	A → D in Hita.	1
Natural variantⁱVAR_016189	126	D → H. Corresponds to variant dbSNP:rs5077Ensembl.	1
Natural variantⁱVAR_000613	127	D → N in Munster-3A. Corresponds to variant dbSNP:rs921646982Ensembl.	1
Natural variantⁱVAR_000615	131	K → M1 PublicationCorresponds to variant dbSNP:rs4882Ensembl.	1
Natural variantⁱVAR_000614	131	Missing in Marburg/Munster-2.	1
Natural variantⁱVAR_000616	132	W → R in Tsushima.	1
Natural variantⁱVAR_000617	134	E → K in Fukuoka. 1 Publication	1
Natural variantⁱVAR_000618	160	E → K in Norway. 1 PublicationCorresponds to variant dbSNP:rs121912718EnsemblClinVar.	1
Natural variantⁱVAR_000619	163	E → G1 PublicationCorresponds to variant dbSNP:rs758509542Ensembl.	1
Natural variantⁱVAR_000620	167	P → R in Giessen. 1 PublicationCorresponds to variant dbSNP:rs121912719EnsemblClinVar.	1
Natural variantⁱVAR_000621	168	L → R in Zaragoza. 1 Publication	1
Natural variantⁱVAR_000622	171	E → V1 PublicationCorresponds to variant dbSNP:rs1015066427Ensembl.	1
Natural variantⁱVAR_083310	173	R → P in AMYL8; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_074073	173	R → S in Boston; no evidence of association with premature coronary heart disease; associated with decreased levels of HDL cholesterol; associated with decreased serum cellular cholesterol efflux; associated with decreased lecithin-cholesterol acyltransferase (LCAT) activity. 1 Publication	1
Natural variantⁱVAR_021362	180	V → E in Oita; 60% of normal apoA-I and normal HDL cholesterol levels; rapidly cleared from plasma. 1 PublicationCorresponds to variant dbSNP:rs121912727EnsemblClinVar.	1
Natural variantⁱVAR_014609	184	R → P. Corresponds to variant dbSNP:rs5078Ensembl.	1
Natural variantⁱVAR_000623	189	P → R1 PublicationCorresponds to variant dbSNP:rs121912722EnsemblClinVar.	1
Natural variantⁱVAR_000624	197	R → C in Milano; no evidence of association with premature vascular disease; associated with decreased HDL levels and moderate increase in triglycerides; allows the formation of disulfide-linked homodimers via the introduced cysteine; assembles properly in HDL; alters protein structure; has no tendency to form fibrils and aggregates. 2 PublicationsCorresponds to variant dbSNP:rs28931573EnsemblClinVar.	1
Natural variantⁱVAR_083311	198	L → S in AMYL8; plasma level of HDL and apoA-I protein were significantly lower in the patient. 1 Publication	1
Natural variantⁱVAR_083312	199	A → P in AMYL8; unknown pathological significance. 1 Publication	1
Natural variantⁱVAR_000625	222	E → K in Munster-4. 1 PublicationCorresponds to variant dbSNP:rs121912717EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	J00098 Genomic DNA Translation: AAB59514.1 X01038 Genomic DNA Translation: CAA25519.1 X02162 mRNA Translation: CAA26097.1 X00566 mRNA Translation: CAA25232.1 M11791 mRNA Translation: AAA35545.1 X07496 Genomic DNA Translation: CAA30377.1 M27875 mRNA Translation: AAA62829.1 M29068 mRNA Translation: AAA51747.1 AY422952 Genomic DNA Translation: AAQ91811.1 AY555191 Genomic DNA Translation: AAS68227.1 A14829 mRNA Translation: CAA01198.1 AK292231 mRNA Translation: BAF84920.1 EF444948 Genomic DNA Translation: ACA05932.1 EF444948 Genomic DNA Translation: ACA05933.1 EF444948 Genomic DNA Translation: ACA05934.1 EF444948 Genomic DNA Translation: ACA05935.1 EF444948 Genomic DNA Translation: ACA05936.1 CH471065 Genomic DNA Translation: EAW67274.1 BC005380 mRNA Translation: AAH05380.1 BC110286 mRNA Translation: AAI10287.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS8378.1
PIRⁱ	A90947, LPHUA1
NCBI Reference Sequences More...RefSeqⁱ	NP_000030.1, NM_000039.2 NP_001304946.1, NM_001318017.1 NP_001304947.1, NM_001318018.1 NP_001304950.1, NM_001318021.1

Genome annotation databases

Ensemblⁱ	ENST00000236850; ENSP00000236850; ENSG00000118137 ENST00000359492; ENSP00000352471; ENSG00000118137 ENST00000375320; ENSP00000364469; ENSG00000118137 ENST00000375323; ENSP00000364472; ENSG00000118137
GeneIDⁱ	335
KEGGⁱ	hsa:335
UCSC genome browser More...UCSCⁱ	uc001ppv.2, human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P02647	Apolipoprotein A-I		GORGO		267	UniRef100_P02647
Apolipoprotein A-I		PANTR		267
Apolipoprotein A-I, isoform CRA_a		HUMAN		267
APOA1 isoform 1		PANTR		267
Apolipoprotein A-I		PANTR		267
+4

Protein	Similar proteins		Species	Score	Length	Source
P02647	Apolipoprotein A-I		GORGO		267	UniRef90_P02647
Apolipoprotein A-I		PANTR		267
Apolipoprotein A-I		PONAB		267
Apolipoprotein A-I		PANPA		267
Apolipoprotein A-I		MACFA		267
+33

Protein	Similar proteins		Species	Score	Length	Source
P02647	Apolipoprotein A-I		GORGO		267	UniRef50_P02647
Apolipoprotein A-I		PANTR		267
Apolipoprotein A-I		MACFA		267
Apolipoprotein A-I		MACMU		267
Apolipoprotein A-I		PAPHA		267
+172

Cross-referencesⁱ

Web resourcesⁱ

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	J00098 Genomic DNA Translation: AAB59514.1 X01038 Genomic DNA Translation: CAA25519.1 X02162 mRNA Translation: CAA26097.1 X00566 mRNA Translation: CAA25232.1 M11791 mRNA Translation: AAA35545.1 X07496 Genomic DNA Translation: CAA30377.1 M27875 mRNA Translation: AAA62829.1 M29068 mRNA Translation: AAA51747.1 AY422952 Genomic DNA Translation: AAQ91811.1 AY555191 Genomic DNA Translation: AAS68227.1 A14829 mRNA Translation: CAA01198.1 AK292231 mRNA Translation: BAF84920.1 EF444948 Genomic DNA Translation: ACA05932.1 EF444948 Genomic DNA Translation: ACA05933.1 EF444948 Genomic DNA Translation: ACA05934.1 EF444948 Genomic DNA Translation: ACA05935.1 EF444948 Genomic DNA Translation: ACA05936.1 CH471065 Genomic DNA Translation: EAW67274.1 BC005380 mRNA Translation: AAH05380.1 BC110286 mRNA Translation: AAI10287.1
CCDSⁱ	CCDS8378.1
PIRⁱ	A90947, LPHUA1
RefSeqⁱ	NP_000030.1, NM_000039.2 NP_001304946.1, NM_001318017.1 NP_001304947.1, NM_001318018.1 NP_001304950.1, NM_001318021.1

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1AV1	X-ray	4.00	A/B/C/D	68-267	[»]
	1GW3	NMR	-	A	166-211	[»]
	1GW4	NMR	-	A	166-211	[»]
	1ODP	NMR	-	A	190-209	[»]
	1ODQ	NMR	-	A	190-209	[»]
	1ODR	NMR	-	A	190-209	[»]
	2MSC	NMR	-	A/C	68-265	[»]
	2MSD	NMR	-	A/C	68-265	[»]
	2MSE	NMR	-	A/C	68-265	[»]
	2N5E	NMR	-	A/B	79-267	[»]
	3K2S	X-ray	-	A/B	25-267	[»]
	3R2P	X-ray	2.20	A	25-208	[»]
	4V6M	electron microscopy	7.10	A0/A1	68-267	[»]
	6CC9	NMR	-	A/C	68-265	[»]
	6CCH	NMR	-	A/C	68-265	[»]
	6CCX	NMR	-	A/C	68-265	[»]
	6CLZ	NMR	-	B/C	79-267	[»]
	6CM1	NMR	-	B/C	79-267	[»]
	6PTS	NMR	-	A/C	68-265	[»]
	6PTW	NMR	-	A/C	68-265	[»]
	6W4E	NMR	-	A/D	68-265	[»]
	6W4F	NMR	-	A/D	68-265	[»]
	7KJR	electron microscopy	2.08	C/D	79-267	[»]
BMRBⁱ	P02647
SMRⁱ	P02647
ModBaseⁱ	Search...
PDBe-KBⁱ	Search...

Protein-protein interaction databases

BioGRIDⁱ	106832, 102 interactors
CORUMⁱ	P02647
DIPⁱ	DIP-29619N
IntActⁱ	P02647, 89 interactors
MINTⁱ	P02647
STRINGⁱ	9606.ENSP00000236850

Chemistry databases

ChEMBLⁱ	CHEMBL5984
DrugBankⁱ	DB09130, Copper DB01593, Zinc DB14487, Zinc acetate DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form

PTM databases

CarbonylDBⁱ	P02647
iPTMnetⁱ	P02647
MetOSiteⁱ	P02647
PhosphoSitePlusⁱ	P02647

Genetic variation databases

BioMutaⁱ	APOA1
DMDMⁱ	113992

2D gel databases

DOSAC-COBS-2DPAGEⁱ	P02647
OGPⁱ	P02647
REPRODUCTION-2DPAGEⁱ	IPI00021841 P02647
SWISS-2DPAGEⁱ	P02647
UCD-2DPAGEⁱ	P02647

Proteomic databases

CPTACⁱ	non-CPTAC-1075 non-CPTAC-1076
EPDⁱ	P02647
jPOSTⁱ	P02647
MassIVEⁱ	P02647
MaxQBⁱ	P02647
PaxDbⁱ	P02647
PeptideAtlasⁱ	P02647
PRIDEⁱ	P02647
ProteomicsDBⁱ	51536
TopDownProteomicsⁱ	P02647

Protocols and materials databases

ABCDⁱ	P02647, 1 sequenced antibody
Antibodypediaⁱ	32291, 1571 antibodies
The DNASU plasmid repository More...DNASUⁱ	335

Genome annotation databases

Ensemblⁱ	ENST00000236850; ENSP00000236850; ENSG00000118137 ENST00000359492; ENSP00000352471; ENSG00000118137 ENST00000375320; ENSP00000364469; ENSG00000118137 ENST00000375323; ENSP00000364472; ENSG00000118137
GeneIDⁱ	335
KEGGⁱ	hsa:335
UCSCⁱ	uc001ppv.2, human

Organism-specific databases

CTDⁱ	335
DisGeNETⁱ	335
GeneCardsⁱ	APOA1
HGNCⁱ	HGNC:600, APOA1
HPAⁱ	ENSG00000118137, Tissue enriched (liver)
MalaCardsⁱ	APOA1
MIMⁱ	105200, phenotype 107680, gene 618463, phenotype
neXtProtⁱ	NX_P02647
OpenTargetsⁱ	ENSG00000118137
Orphanetⁱ	93560, AApoAI amyloidosis 425, Apolipoprotein A-I deficiency
PharmGKBⁱ	PA49
VEuPathDBⁱ	HostDB:ENSG00000118137.9
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG502S1XQ, Eukaryota
GeneTreeⁱ	ENSGT00950000182929
HOGENOMⁱ	CLU_058447_1_0_1
InParanoidⁱ	P02647
OMAⁱ	KEVREMW
OrthoDBⁱ	1553412at2759
PhylomeDBⁱ	P02647
TreeFamⁱ	TF334458

Enzyme and pathway databases

PathwayCommonsⁱ	P02647
Reactomeⁱ	R-HSA-114608, Platelet degranulation R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-1989781, PPARA activates gene expression R-HSA-2168880, Scavenging of heme from plasma R-HSA-3000471, Scavenging by Class B Receptors R-HSA-3000480, Scavenging by Class A Receptors R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-5682113, Defective ABCA1 causes TGD R-HSA-8957275, Post-translational protein phosphorylation R-HSA-8963888, Chylomicron assembly R-HSA-8963896, HDL assembly R-HSA-8963901, Chylomicron remodeling R-HSA-8964011, HDL clearance R-HSA-8964058, HDL remodeling R-HSA-975634, Retinoid metabolism and transport R-HSA-977225, Amyloid fiber formation
SIGNORⁱ	P02647

Miscellaneous databases

BioGRID-ORCSⁱ	335, 8 hits in 989 CRISPR screens
ChiTaRSⁱ	APOA1, human
EvolutionaryTraceⁱ	P02647
GeneWikiⁱ	Apolipoprotein_A1
GenomeRNAiⁱ	335
Pharosⁱ	P02647, Tbio
Protein Ontology More...PROⁱ	PR:P02647
RNActⁱ	P02647, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000118137, Expressed in duodenum and 126 other tissues
ExpressionAtlasⁱ	P02647, baseline and differential
Genevisibleⁱ	P02647, HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000074, ApoA_E
Pfamⁱ	View protein in Pfam PF01442, Apolipoprotein, 1 hit
ProtoNetⁱ	Search...
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	APOA1_HUMAN
Accessionⁱ	P02647Primary (citable) accession number: P02647 Secondary accession number(s): A8K866 , Q6LDN9, Q6Q785, Q9UCS8, Q9UCT8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
	Last sequence update:	July 21, 1986
	Last modified:	April 7, 2021
	This is version 256 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 proteome

Documents

Human chromosome 11
Human chromosome 11: 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

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UniProtKB - P02647 (APOA1_HUMAN)

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Apolipoprotein A-I

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Keywords - PTMi

Proteomic databases

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

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<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

P02647

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Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Experimental Info

<p>This subsection of the 'Sequence' section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Mass spectrometryⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ