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Protein

Apolipoprotein A-I

Gene

APOA1

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

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

  • apolipoprotein A-I receptor binding Source: BHF-UCL
  • apolipoprotein receptor binding Source: BHF-UCL
  • beta-amyloid binding Source: BHF-UCL
  • chemorepellent activity Source: UniProtKB
  • cholesterol binding Source: BHF-UCL
  • cholesterol transporter activity Source: BHF-UCL
  • enzyme binding Source: BHF-UCL
  • high-density lipoprotein particle binding Source: Ensembl
  • high-density lipoprotein particle receptor binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • lipase inhibitor activity Source: Ensembl
  • phosphatidylcholine binding Source: GO_Central
  • phosphatidylcholine-sterol O-acyltransferase activator activity Source: BHF-UCL
  • phospholipid binding Source: BHF-UCL
  • phospholipid transporter activity Source: Ensembl

GO - Biological processi

  • adrenal gland development Source: Ensembl
  • blood vessel endothelial cell migration Source: Ensembl
  • cellular protein metabolic process Source: Reactome
  • cholesterol biosynthetic process Source: GO_Central
  • cholesterol efflux Source: BHF-UCL
  • cholesterol homeostasis Source: BHF-UCL
  • cholesterol import Source: BHF-UCL
  • cholesterol metabolic process Source: BHF-UCL
  • cholesterol transport Source: MGI
  • endothelial cell proliferation Source: Ensembl
  • glucocorticoid metabolic process Source: Ensembl
  • G-protein coupled receptor signaling pathway Source: BHF-UCL
  • high-density lipoprotein particle assembly Source: BHF-UCL
  • high-density lipoprotein particle clearance Source: BHF-UCL
  • high-density lipoprotein particle remodeling Source: BHF-UCL
  • integrin-mediated signaling pathway Source: UniProtKB
  • lipid storage Source: Ensembl
  • lipoprotein biosynthetic process Source: Reactome
  • lipoprotein metabolic process Source: GO_Central
  • negative chemotaxis Source: UniProtKB
  • negative regulation of cell adhesion molecule production Source: BHF-UCL
  • negative regulation of cytokine secretion involved in immune response Source: BHF-UCL
  • negative regulation of heterotypic cell-cell adhesion Source: BHF-UCL
  • negative regulation of inflammatory response Source: BHF-UCL
  • negative regulation of interleukin-1 beta secretion Source: BHF-UCL
  • negative regulation of lipase activity Source: Ensembl
  • negative regulation of response to cytokine stimulus Source: BHF-UCL
  • negative regulation of tumor necrosis factor-mediated signaling pathway Source: BHF-UCL
  • negative regulation of very-low-density lipoprotein particle remodeling Source: BHF-UCL
  • neuron projection regeneration Source: GO_Central
  • organ regeneration Source: Ensembl
  • peptidyl-methionine modification Source: UniProtKB
  • peripheral nervous system axon regeneration Source: Ensembl
  • phosphatidylcholine biosynthetic process Source: BHF-UCL
  • phospholipid efflux Source: BHF-UCL
  • phospholipid homeostasis Source: BHF-UCL
  • platelet degranulation Source: Reactome
  • positive regulation of cholesterol esterification Source: BHF-UCL
  • positive regulation of fatty acid biosynthetic process Source: GO_Central
  • positive regulation of hydrolase activity Source: BHF-UCL
  • positive regulation of lipoprotein lipase activity Source: GO_Central
  • positive regulation of Rho protein signal transduction Source: UniProtKB
  • positive regulation of stress fiber assembly Source: UniProtKB
  • positive regulation of substrate adhesion-dependent cell spreading Source: UniProtKB
  • positive regulation of triglyceride catabolic process Source: GO_Central
  • protein oxidation Source: UniProtKB
  • protein stabilization Source: BHF-UCL
  • receptor-mediated endocytosis Source: Reactome
  • regulation of Cdc42 protein signal transduction Source: BHF-UCL
  • regulation of intestinal cholesterol absorption Source: GO_Central
  • regulation of protein phosphorylation Source: Ensembl
  • response to drug Source: Ensembl
  • response to estrogen Source: Ensembl
  • response to nutrient Source: Ensembl
  • retinoid metabolic process Source: Reactome
  • reverse cholesterol transport Source: BHF-UCL
  • transmembrane transport Source: Reactome
  • triglyceride catabolic process Source: GO_Central
  • triglyceride homeostasis Source: BHF-UCL
  • vitamin transport Source: AgBase
Complete GO annotation...

Keywords - Biological processi

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

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-174800. Chylomicron-mediated lipid transport.
R-HSA-194223. HDL-mediated lipid transport.
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-975634. Retinoid metabolism and transport.
R-HSA-977225. Amyloid fiber formation.

Names & Taxonomyi

Protein namesi
Recommended name:
Apolipoprotein A-I
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
Alternative name(s):
Apolipoprotein A-I(1-242)
Gene namesi
Name:APOA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:600. APOA1.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • cell surface Source: Ensembl
  • chylomicron Source: GO_Central
  • cytoplasmic vesicle Source: BHF-UCL
  • cytosol Source: Reactome
  • discoidal high-density lipoprotein particle Source: Ensembl
  • early endosome Source: Reactome
  • endocytic vesicle Source: BHF-UCL
  • endocytic vesicle lumen Source: Reactome
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • extracellular vesicle Source: UniProtKB
  • high-density lipoprotein particle Source: BHF-UCL
  • nucleus Source: Ensembl
  • plasma membrane Source: Reactome
  • secretory granule lumen Source: Reactome
  • spherical high-density lipoprotein particle Source: BHF-UCL
  • very-low-density lipoprotein particle Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Amyloid, HDL, Secreted

Pathology & Biotechi

Involvement in diseasei

High density lipoprotein deficiency 2 (HDLD2)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionInherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
See also OMIM:604091
High density lipoprotein deficiency 1 (HDLD1)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRecessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
See also OMIM:205400

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)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash.
See also OMIM:105200
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501G → R in AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa. 3 Publications
Corresponds to variant rs28931574 [ dbSNP | Ensembl ].
VAR_000609
Natural varianti84 – 841L → R in AMYL8. 1 Publication
Corresponds to variant rs121912724 [ dbSNP | Ensembl ].
VAR_000610

Keywords - Diseasei

Amyloidosis, Atherosclerosis, Disease mutation, Neuropathy

Organism-specific databases

MalaCardsiAPOA1.
MIMi105200. phenotype.
107680. gene+phenotype.
205400. phenotype.
604091. phenotype.
Orphaneti425. Apolipoprotein A-I deficiency.
93560. Familial renal amyloidosis due to Apolipoprotein AI variant.
314701. Primary systemic amyloidosis.
PharmGKBiPA49.

Chemistry

ChEMBLiCHEMBL5984.

Polymorphism and mutation databases

BioMutaiAPOA1.
DMDMi113992.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 18182 PublicationsAdd
BLAST
Chaini19 – 267249Proapolipoprotein A-IPRO_0000425323Add
BLAST
Chaini25 – 267243Apolipoprotein A-IPRO_0000001939Add
BLAST
Chaini25 – 266242Truncated apolipoprotein A-IPRO_0000001940Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei110 – 1101Methionine sulfoxide1 Publication
Modified residuei136 – 1361Methionine sulfoxide1 Publication
Glycosylationi263 – 2631N-linked (Glc) (glycation)

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

EPDiP02647.
MaxQBiP02647.
PaxDbiP02647.
PeptideAtlasiP02647.
PRIDEiP02647.

2D gel databases

DOSAC-COBS-2DPAGEP02647.
OGPiP02647.
REPRODUCTION-2DPAGEIPI00021841.
P02647.
SWISS-2DPAGEP02647.
UCD-2DPAGEP02647.

PTM databases

iPTMnetiP02647.
PhosphoSiteiP02647.

Miscellaneous databases

PMAP-CutDBP02647.

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

BgeeiENSG00000118137.
CleanExiHS_APOA1.
ExpressionAtlasiP02647. baseline and differential.
GenevisibleiP02647. HS.

Organism-specific databases

HPAiCAB016778.
HPA046715.

Interactioni

Subunit structurei

Interacts with APOA1BP and CLU. Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin. Interacts with NDRG1.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself14EBI-701692,EBI-701692
ABCA1O954774EBI-701692,EBI-784112
APPP050675EBI-701692,EBI-77613
CMTM5Q96DZ93EBI-701692,EBI-2548702
FGAP026712EBI-701692,EBI-348571
HPP007383EBI-701692,EBI-1220767

GO - Molecular functioni

  • apolipoprotein A-I receptor binding Source: BHF-UCL
  • apolipoprotein receptor binding Source: BHF-UCL
  • enzyme binding Source: BHF-UCL
  • high-density lipoprotein particle receptor binding Source: BHF-UCL
  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi106832. 88 interactions.
DIPiDIP-29619N.
IntActiP02647. 70 interactions.
MINTiMINT-5000866.
STRINGi9606.ENSP00000236850.

Structurei

Secondary structure

1
267
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi33 – 4210Combined sources
Helixi45 – 5915Combined sources
Helixi61 – 655Combined sources
Beta strandi69 – 735Combined sources
Helixi80 – 889Combined sources
Helixi93 – 15866Combined sources
Turni159 – 1646Combined sources
Helixi166 – 20338Combined sources
Turni212 – 2143Combined sources
Beta strandi215 – 2173Combined sources
Helixi220 – 23718Combined sources
Beta strandi238 – 2403Combined sources
Helixi243 – 26624Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AV1X-ray4.00A/B/C/D68-267[»]
1GW3NMR-A166-211[»]
1GW4NMR-A166-211[»]
1ODPNMR-A190-209[»]
1ODQNMR-A190-209[»]
1ODRNMR-A190-209[»]
2A01X-ray2.40A/B/C25-267[»]
2MSCNMR-A/C68-265[»]
2MSDNMR-A/C68-265[»]
2MSENMR-A/C68-265[»]
3K2SX-ray-A/B25-267[»]
3R2PX-ray2.20A25-208[»]
4V6Melectron microscopy7.10A0/A168-267[»]
DisProtiDP00386.
ProteinModelPortaliP02647.
SMRiP02647. Positions 26-267.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02647.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati68 – 89221Add
BLAST
Repeati90 – 111222Add
BLAST
Repeati112 – 122113; half-lengthAdd
BLAST
Repeati123 – 144224Add
BLAST
Repeati145 – 166225Add
BLAST
Repeati167 – 188226Add
BLAST
Repeati189 – 210227Add
BLAST
Repeati211 – 232228Add
BLAST
Repeati233 – 243119; half-lengthAdd
BLAST
Repeati244 – 2672410Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni68 – 26720010 X approximate tandem repeatsAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IWKR. Eukaryota.
ENOG410YGQ6. LUCA.
GeneTreeiENSGT00530000063081.
HOGENOMiHOG000033998.
HOVERGENiHBG105708.
InParanoidiP02647.
KOiK08757.
OMAiKDFATVY.
OrthoDBiEOG091G0IA5.
PhylomeDBiP02647.
TreeFamiTF334458.

Family and domain databases

InterProiIPR000074. ApoA_E.
[Graphical view]
PfamiPF01442. Apolipoprotein. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P02647-1 [UniParc]FASTAAdd 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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti32 – 321W → P AA sequence (PubMed:1742316).Curated

Mass spectrometryi

Molecular mass is 28081 Da from positions 25 - 267. Determined by ESI. Without methionine sulfoxide.1 Publication
Molecular mass is 28098 Da from positions 25 - 267. Determined by ESI. With 1 methionine sulfoxide, oxidation at Met-110.1 Publication
Molecular mass is 28095 Da from positions 25 - 267. Determined by ESI. With 1 methionine sulfoxide, oxidation at Met-136.1 Publication
Molecular mass is 28114 Da from positions 25 - 267. 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271P → H in Munster-3C.
Corresponds to variant rs121912720 [ dbSNP | Ensembl ].
VAR_000605
Natural varianti27 – 271P → R.1 Publication
Corresponds to variant rs121912720 [ dbSNP | Ensembl ].
VAR_000606
Natural varianti28 – 281P → R in Munster-3B. 1 Publication
Corresponds to variant rs121912721 [ dbSNP | Ensembl ].
VAR_000607
Natural varianti34 – 341R → L in Baltimore. 1 Publication
Corresponds to variant rs28929476 [ dbSNP | Ensembl ].
VAR_000608
Natural varianti50 – 501G → R in AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa. 3 Publications
Corresponds to variant rs28931574 [ dbSNP | Ensembl ].
VAR_000609
Natural varianti61 – 611A → T.1 Publication
Corresponds to variant rs12718465 [ dbSNP | Ensembl ].
VAR_025445
Natural varianti84 – 841L → R in AMYL8. 1 Publication
Corresponds to variant rs121912724 [ dbSNP | Ensembl ].
VAR_000610
Natural varianti92 – 921T → I Polymorphism; confirmed at protein level. 2 Publications
Corresponds to variant rs766422306 [ dbSNP | Ensembl ].
VAR_017017
Natural varianti113 – 1131D → E.1 Publication
Corresponds to variant rs150243849 [ dbSNP | Ensembl ].
VAR_000611
Natural varianti119 – 1191A → D in Hita.
VAR_000612
Natural varianti126 – 1261D → H.
Corresponds to variant rs5077 [ dbSNP | Ensembl ].
VAR_016189
Natural varianti127 – 1271D → N in Munster-3A.
VAR_000613
Natural varianti131 – 1311K → M.1 Publication
Corresponds to variant rs4882 [ dbSNP | Ensembl ].
VAR_000615
Natural varianti131 – 1311Missing in Marburg/Munster-2.
VAR_000614
Natural varianti132 – 1321W → R in Tsushima.
VAR_000616
Natural varianti134 – 1341E → K in Fukuoka. 1 Publication
VAR_000617
Natural varianti160 – 1601E → K in Norway. 1 Publication
Corresponds to variant rs121912718 [ dbSNP | Ensembl ].
VAR_000618
Natural varianti163 – 1631E → G.1 Publication
Corresponds to variant rs758509542 [ dbSNP | Ensembl ].
VAR_000619
Natural varianti167 – 1671P → R in Giessen. 1 Publication
Corresponds to variant rs121912719 [ dbSNP | Ensembl ].
VAR_000620
Natural varianti168 – 1681L → R in Zaragoza. 1 Publication
VAR_000621
Natural varianti171 – 1711E → V.1 Publication
VAR_000622
Natural varianti173 – 1731R → 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
VAR_074073
Natural varianti180 – 1801V → E in Oita; 60% of normal apoA-I and normal HDL cholesterol levels; rapidly cleared from plasma. 1 Publication
Corresponds to variant rs121912727 [ dbSNP | Ensembl ].
VAR_021362
Natural varianti184 – 1841R → P.
Corresponds to variant rs5078 [ dbSNP | Ensembl ].
VAR_014609
Natural varianti189 – 1891P → R.1 Publication
Corresponds to variant rs121912722 [ dbSNP | Ensembl ].
VAR_000623
Natural varianti197 – 1971R → 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 Publications
Corresponds to variant rs28931573 [ dbSNP | Ensembl ].
VAR_000624
Natural varianti222 – 2221E → K in Munster-4. 1 Publication
Corresponds to variant rs121912717 [ dbSNP | Ensembl ].
VAR_000625

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.
CCDSiCCDS8378.1.
PIRiA90947. LPHUA1.
RefSeqiNP_000030.1. NM_000039.2.
NP_001304946.1. NM_001318017.1.
NP_001304947.1. NM_001318018.1.
NP_001304950.1. NM_001318021.1.
UniGeneiHs.93194.

Genome annotation databases

EnsembliENST00000236850; ENSP00000236850; ENSG00000118137.
ENST00000359492; ENSP00000352471; ENSG00000118137.
ENST00000375320; ENSP00000364469; ENSG00000118137.
ENST00000375323; ENSP00000364472; ENSG00000118137.
GeneIDi335.
KEGGihsa:335.
UCSCiuc001ppv.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS8378.1.
PIRiA90947. LPHUA1.
RefSeqiNP_000030.1. NM_000039.2.
NP_001304946.1. NM_001318017.1.
NP_001304947.1. NM_001318018.1.
NP_001304950.1. NM_001318021.1.
UniGeneiHs.93194.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AV1X-ray4.00A/B/C/D68-267[»]
1GW3NMR-A166-211[»]
1GW4NMR-A166-211[»]
1ODPNMR-A190-209[»]
1ODQNMR-A190-209[»]
1ODRNMR-A190-209[»]
2A01X-ray2.40A/B/C25-267[»]
2MSCNMR-A/C68-265[»]
2MSDNMR-A/C68-265[»]
2MSENMR-A/C68-265[»]
3K2SX-ray-A/B25-267[»]
3R2PX-ray2.20A25-208[»]
4V6Melectron microscopy7.10A0/A168-267[»]
DisProtiDP00386.
ProteinModelPortaliP02647.
SMRiP02647. Positions 26-267.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106832. 88 interactions.
DIPiDIP-29619N.
IntActiP02647. 70 interactions.
MINTiMINT-5000866.
STRINGi9606.ENSP00000236850.

Chemistry

ChEMBLiCHEMBL5984.

PTM databases

iPTMnetiP02647.
PhosphoSiteiP02647.

Polymorphism and mutation databases

BioMutaiAPOA1.
DMDMi113992.

2D gel databases

DOSAC-COBS-2DPAGEP02647.
OGPiP02647.
REPRODUCTION-2DPAGEIPI00021841.
P02647.
SWISS-2DPAGEP02647.
UCD-2DPAGEP02647.

Proteomic databases

EPDiP02647.
MaxQBiP02647.
PaxDbiP02647.
PeptideAtlasiP02647.
PRIDEiP02647.

Protocols and materials databases

DNASUi335.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236850; ENSP00000236850; ENSG00000118137.
ENST00000359492; ENSP00000352471; ENSG00000118137.
ENST00000375320; ENSP00000364469; ENSG00000118137.
ENST00000375323; ENSP00000364472; ENSG00000118137.
GeneIDi335.
KEGGihsa:335.
UCSCiuc001ppv.2. human.

Organism-specific databases

CTDi335.
GeneCardsiAPOA1.
HGNCiHGNC:600. APOA1.
HPAiCAB016778.
HPA046715.
MalaCardsiAPOA1.
MIMi105200. phenotype.
107680. gene+phenotype.
205400. phenotype.
604091. phenotype.
neXtProtiNX_P02647.
Orphaneti425. Apolipoprotein A-I deficiency.
93560. Familial renal amyloidosis due to Apolipoprotein AI variant.
314701. Primary systemic amyloidosis.
PharmGKBiPA49.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWKR. Eukaryota.
ENOG410YGQ6. LUCA.
GeneTreeiENSGT00530000063081.
HOGENOMiHOG000033998.
HOVERGENiHBG105708.
InParanoidiP02647.
KOiK08757.
OMAiKDFATVY.
OrthoDBiEOG091G0IA5.
PhylomeDBiP02647.
TreeFamiTF334458.

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-1369062. ABC transporters in lipid homeostasis.
R-HSA-174800. Chylomicron-mediated lipid transport.
R-HSA-194223. HDL-mediated lipid transport.
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-975634. Retinoid metabolism and transport.
R-HSA-977225. Amyloid fiber formation.

Miscellaneous databases

ChiTaRSiAPOA1. human.
EvolutionaryTraceiP02647.
GeneWikiiApolipoprotein_A1.
GenomeRNAii335.
PMAP-CutDBP02647.
PROiP02647.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118137.
CleanExiHS_APOA1.
ExpressionAtlasiP02647. baseline and differential.
GenevisibleiP02647. HS.

Family and domain databases

InterProiIPR000074. ApoA_E.
[Graphical view]
PfamiPF01442. Apolipoprotein. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPOA1_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 217 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

Keywords - Technical termi

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

Documents

  1. Human chromosome 11
    Human chromosome 11: 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.