(data stored in ACNUC9435 zone)


ID   HS11_PE2983                          STANDARD;      PRT;   267 AA.
AC   HS11_PE2983; P02647; A8K866; Q6LDN9; Q6Q785; Q9UCS8; Q9UCT8;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Apolipoprotein A-I; Short=Apo-AI; Short=ApoA-I;AltName:
DE   Full=Apolipoprotein A1;Contains: RecName: Full=Apolipoprotein
DE   A-I(1-242);Flags: Precursor; (HS11.PE2983).
GN   Name=APOA1;
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS11.PE2983.
CC       Homo sapiens chromosome 11 GRCh37  sequence 1..134946516 annotated by
CC       Ensembl
CC   -!- FUNCTION: Participates in the reverse transport of cholesterol
CC       from tissues to the liver for excretion by promoting cholesterol
CC       efflux from tissues and by acting as a cofactor for the lecithin
CC       cholesterol acyltransferase (LCAT). As part of the SPAP complex,
CC       activates spermatozoa motility.
CC   -!- SUBUNIT: Interacts with APOA1BP and CLU. Component of a sperm
CC       activating protein complex (SPAP), consisting of APOA1, an
CC       immunoglobulin heavy chain, an immunoglobulin light chain and
CC       albumin.
CC       P05067:APP; NbExp=5; IntAct=EBI-701692, EBI-77613;
CC   -!- TISSUE SPECIFICITY: Major protein of plasma HDL, also found in
CC       chylomicrons. Synthesized in the liver and small intestine.
CC   -!- PTM: Palmitoylated.
CC   -!- PTM: Phosphorylation sites are present in the extracelllular
CC       medium.
CC   -!- DISEASE: Defects in APOA1 are a cause of high density lipoprotein
CC       deficiency type 2 (HDLD2) [MIM:604091]; also known as familial
CC       hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant.
CC   -!- DISEASE: Defects in APOA1 are a cause of the low HDL levels
CC       observed in high density lipoprotein deficiency type 1 (HDLD1)
CC       [MIM:205400]; also known as analphalipoproteinemia or Tangier
CC       disease (TGD). HDLD1 is a recessive disorder characterized by the
CC       absence of plasma HDL, accumulation of cholesteryl esters,
CC       premature coronary artery disease, hepatosplenomegaly, recurrent
CC       peripheral neuropathy and progressive muscle wasting and weakness.
CC       In HDLD1 patients, ApoA-I fails to associate with HDL probably
CC       because of the faulty conversion of pro-ApoA-I molecules into
CC       mature chains, either due to a defect in the converting enzyme
CC       activity or a specific structural defect in Tangier ApoA-I.
CC   -!- DISEASE: Defects in APOA1 are the cause of amyloid polyneuropathy-
CC       nephropathy Iowa type (AMYLIOWA) [MIM:107680]; also known as
CC       amyloidosis van Allen type or familial amyloid polyneuropathy type
CC       III. AMYLIOWA is a hereditary generalized amyloidosis due to
CC       deposition of amyloid mainly constituted by apolipoprotein A1. The
CC       clinical picture is dominated by neuropathy in the early stages of
CC       the disease and nephropathy late in the course. Death is due in
CC       most cases to renal amyloidosis. Severe peptic ulcer disease can
CC       occurr in some and hearing loss is frequent. Cataracts is present
CC       in several, but vitreous opacities are not observed.
CC   -!- DISEASE: Defects in APOA1 are a cause of amyloidosis type 8
CC       (AMYL8) [MIM:105200]; also known as systemic non-neuropathic
CC       amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary
CC       generalized amyloidosis due to deposition of apolipoprotein A1,
CC       fibrinogen and lysozyme amyloids. Viscera are particularly
CC       affected. There is no involvement of the nervous system. Clinical
CC       features include renal amyloidosis resulting in nephrotic
CC       syndrome, arterial hypertension, hepatosplenomegaly, cholestasis,
CC       petechial skin rash.
CC   -!- SIMILARITY: Belongs to the apolipoprotein A1/A4/E family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1";
CC   -!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and
CC       polymorphism database;
CC       URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1";
CC   -!- GENE_FAMILY: HOG000033998 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000118137;ENST00000375320;ENSP00000364469.
DR   EMBL; A14829; - ;
DR   EMBL; AF148963; - ;
DR   EMBL; AF485255; - ;
DR   EMBL; AK292231; - ;
DR   EMBL; AY422952; - ;
DR   EMBL; AY555191; - ;
DR   EMBL; BC005380; - ;
DR   EMBL; BC110286; - ;
DR   EMBL; CH471065; - ;
DR   EMBL; EF444948; - ;
DR   EMBL; J00098; - ;
DR   EMBL; M11791; - ;
DR   EMBL; M27875; - ;
DR   EMBL; M29068; - ;
DR   EMBL; X00566; - ;
DR   EMBL; X01038; - ;
DR   EMBL; X02162; - ;
DR   EMBL; X07496; - ;
DR   UniProtKB/Swiss-Prot; P02647; A8K866; Q6LDN9; Q6Q785; Q9UCS8; Q9UCT8; -.
DR   EMBL; J00098; AAB59514.1; -; Genomic_DNA.
DR   EMBL; X01038; CAA25519.1; -; Genomic_DNA.
DR   EMBL; X02162; CAA26097.1; -; mRNA.
DR   EMBL; X00566; CAA25232.1; -; mRNA.
DR   EMBL; M11791; AAA35545.1; -; mRNA.
DR   EMBL; X07496; CAA30377.1; -; Genomic_DNA.
DR   EMBL; M27875; AAA62829.1; -; mRNA.
DR   EMBL; M29068; AAA51747.1; -; mRNA.
DR   EMBL; AY422952; AAQ91811.1; -; Genomic_DNA.
DR   EMBL; AY555191; AAS68227.1; -; Genomic_DNA.
DR   EMBL; A14829; CAA01198.1; -; mRNA.
DR   EMBL; AK292231; BAF84920.1; -; mRNA.
DR   EMBL; EF444948; ACA05932.1; -; Genomic_DNA.
DR   EMBL; EF444948; ACA05933.1; -; Genomic_DNA.
DR   EMBL; EF444948; ACA05934.1; -; Genomic_DNA.
DR   EMBL; EF444948; ACA05935.1; -; Genomic_DNA.
DR   EMBL; EF444948; ACA05936.1; -; Genomic_DNA.
DR   EMBL; CH471065; EAW67274.1; -; Genomic_DNA.
DR   EMBL; BC005380; AAH05380.1; -; mRNA.
DR   EMBL; BC110286; AAI10287.1; -; mRNA.
DR   IPI; IPI00021841; -.
DR   PIR; A90947; LPHUA1.
DR   RefSeq; NP_000030.1; NM_000039.1.
DR   UniGene; Hs.93194; -.
DR   PDB; 1AV1; X-ray; 4.00 A; A/B/C/D=68-267.
DR   PDB; 1GW3; NMR; -; A=166-211.
DR   PDB; 1GW4; NMR; -; A=166-211.
DR   PDB; 1ODP; NMR; -; A=190-209.
DR   PDB; 1ODQ; NMR; -; A=190-209.
DR   PDB; 1ODR; NMR; -; A=190-209.
DR   PDB; 2A01; X-ray; 2.40 A; A/B/C=25-267.
DR   PDB; 3J00; EM; -; 0/1=68-267.
DR   PDB; 3K2S; X-ray; -; A/B=25-267.
DR   PDBsum; 1AV1; -.
DR   PDBsum; 1GW3; -.
DR   PDBsum; 1GW4; -.
DR   PDBsum; 1ODP; -.
DR   PDBsum; 1ODQ; -.
DR   PDBsum; 1ODR; -.
DR   PDBsum; 2A01; -.
DR   PDBsum; 3J00; -.
DR   PDBsum; 3K2S; -.
DR   ProteinModelPortal; P02647; -.
DR   SMR; P02647; 68-267.
DR   DisProt; DP00386; -.
DR   DIP; DIP-29619N; -.
DR   IntAct; P02647; 49.
DR   MINT; MINT-5000866; -.
DR   STRING; P02647; -.
DR   PhosphoSite; P02647; -.
DR   SWISS-2DPAGE; P02647; -.
DR   Cornea-2DPAGE; P02647; -.
DR   DOSAC-COBS-2DPAGE; P02647; -.
DR   OGP; P02647; -.
DR   PMMA-2DPAGE; P02647; -.
DR   Siena-2DPAGE; P02647; -.
DR   UCD-2DPAGE; P02647; -.
DR   PeptideAtlas; P02647; -.
DR   PRIDE; P02647; -.
DR   Ensembl; ENST00000236850; ENSP00000236850; ENSG00000118137.
DR   Ensembl; ENST00000359492; ENSP00000352471; ENSG00000118137.
DR   Ensembl; ENST00000375320; ENSP00000364469; ENSG00000118137.
DR   Ensembl; ENST00000375323; ENSP00000364472; ENSG00000118137.
DR   GeneID; 335; -.
DR   KEGG; hsa:335; -.
DR   UCSC; uc001ppu.1; human.
DR   CTD; 335; -.
DR   GeneCards; GC11M112638; -.
DR   HPA; CAB016778; -.
DR   MIM; 105200; phenotype.
DR   MIM; 107680; gene.
DR   MIM; 205400; phenotype.
DR   MIM; 604091; phenotype.
DR   neXtProt; NX_P02647; -.
DR   Orphanet; 425; Apolipoprotein A-I deficiency.
DR   Orphanet; 93560; Familial renal amyloidosis due to Apolipoprotein AI variant.
DR   Orphanet; 85443; Primary amyloidosis.
DR   PharmGKB; PA49; -.
DR   eggNOG; prNOG20905; -.
DR   InParanoid; P02647; -.
DR   OrthoDB; EOG44J2JV; -.
DR   PhylomeDB; P02647; -.
DR   Pathway_Interaction_DB; hnf3bpathway; FOXA2 and FOXA3 transcription factor networks.
DR   Reactome; REACT_15518; Transmembrane transport of small molecules.
DR   Reactome; REACT_22258; Metabolism of lipids and lipoproteins.
DR   Reactome; REACT_604; Hemostasis.
DR   Reactome; REACT_75925; Amyloids.
DR   NextBio; 1387; -.
DR   PMAP-CutDB; P02647; -.
DR   ArrayExpress; P02647; -.
DR   Bgee; P02647; -.
DR   CleanEx; HS_APOA1; -.
DR   Genevestigator; P02647; -.
DR   GermOnline; ENSG00000118137; Homo sapiens.
DR   GO; GO:0030139; C:endocytic vesicle; IDA:BHF-UCL.
DR   GO; GO:0005788; C:endoplasmic reticulum lumen; EXP:Reactome.
DR   GO; GO:0005886; C:plasma membrane; EXP:Reactome.
DR   GO; GO:0034366; C:spherical high-density lipoprotein particle; IDA:BHF-UCL.
DR   GO; GO:0030141; C:stored secretory granule; EXP:Reactome.
DR   GO; GO:0034361; C:very-low-density lipoprotein particle; IDA:BHF-UCL.
DR   GO; GO:0034191; F:apolipoprotein A-I receptor binding; IPI:BHF-UCL.
DR   GO; GO:0001540; F:beta-amyloid binding; IDA:BHF-UCL.
DR   GO; GO:0015485; F:cholesterol binding; IDA:BHF-UCL.
DR   GO; GO:0017127; F:cholesterol transporter activity; IMP:BHF-UCL.
DR   GO; GO:0019899; F:enzyme binding; IPI:BHF-UCL.
DR   GO; GO:0070653; F:high-density lipoprotein particle receptor binding; IPI:BHF-UCL.
DR   GO; GO:0042802; F:identical protein binding; IPI:BHF-UCL.
DR   GO; GO:0060228; F:phosphatidylcholine-sterol O-acyltransferase activator activity; IDA:BHF-UCL.
DR   GO; GO:0005543; F:phospholipid binding; IDA:BHF-UCL.
DR   GO; GO:0032488; P:Cdc42 protein signal transduction; IDA:BHF-UCL.
DR   GO; GO:0033344; P:cholesterol efflux; IDA:BHF-UCL.
DR   GO; GO:0042632; P:cholesterol homeostasis; IMP:BHF-UCL.
DR   GO; GO:0070508; P:cholesterol import; IMP:BHF-UCL.
DR   GO; GO:0007186; P:G-protein coupled receptor protein signaling pathway; IDA:BHF-UCL.
DR   GO; GO:0034380; P:high-density lipoprotein particle assembly; IDA:BHF-UCL.
DR   GO; GO:0002740; P:negative regulation of cytokine secretion involved in immune response; IDA:BHF-UCL.
DR   GO; GO:0050713; P:negative regulation of interleukin-1 beta secretion; IDA:BHF-UCL.
DR   GO; GO:0010903; P:negative regulation of very-low-density lipoprotein particle remodeling; IDA:BHF-UCL.
DR   GO; GO:0006656; P:phosphatidylcholine biosynthetic process; IDA:BHF-UCL.
DR   GO; GO:0033700; P:phospholipid efflux; IDA:BHF-UCL.
DR   GO; GO:0030168; P:platelet activation; TAS:Reactome.
DR   GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
DR   GO; GO:0010873; P:positive regulation of cholesterol esterification; IDA:BHF-UCL.
DR   GO; GO:0051345; P:positive regulation of hydrolase activity; IDA:BHF-UCL.
DR   GO; GO:0050821; P:protein stabilization; IDA:BHF-UCL.
DR   GO; GO:0043691; P:reverse cholesterol transport; IMP:BHF-UCL.
DR   InterPro; IPR013326; ApoA/E_ApoLp.
DR   InterPro; IPR000074; ApoA1_A4_E.
DR   Gene3D; G3DSA:; ApoA/E_ApoLp; 1.
DR   Pfam; PF01442; Apolipoprotein; 1.
DR   HOGENOMDNA; HS11.PE2983; -.
KW   ENSG000001181371755old_1320000031; ENSP000003644697901old_1320000031;
KW   Q8TDB0_HUMAN; Q9Y355_HUMAN; A14829; AF148963; AF485255; AK292231;
KW   AY555191; BC005380; BC110286; CH471065; EF444948; J00098; M11791; M27875;
KW   X00566; X01038; X02162; X07496;
KW   3D-structure; Amyloid; Amyloidosis; Atherosclerosis;
KW   Cholesterol metabolism; Complete proteome; Direct protein sequencing;
KW   Disease mutation; Glycation; Glycoprotein; HDL; Lipid metabolism;
KW   Lipid transport; Lipoprotein; Neuropathy; Palmitate; Phosphoprotein;
KW   Polymorphism; Reference proteome; Repeat; Secreted; Signal;
KW   Steroid metabolism; Transport.

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