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P02647 Proteins with OtherRepeats Repeats
Uniprot ID: P02647
Protein name : Apolipoprotein A-I
Gene : APOA1
Protein Families : Apolipoprotein A1/A4/E family
Squence Length : 267
Sequence
>P02647 268 MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTSTFSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQGLLPVLESFKVSFLSALEEYTKKLNTQ
Repeat regions
REPEAT 68 89 1 REPEAT 90 111 2 REPEAT 112 122 3 half-length REPEAT 123 144 4 REPEAT 145 166 5 REPEAT 167 188 6 REPEAT 189 210 7 REPEAT 211 232 8 REPEAT 233 243 9 half-length REPEAT 244 267 10
Sequence region of repeats
68- 89 LLDNWDSVTSTFSKLREQLGPV 90- 111 TQEFWDNLEKETEGLRQEMSKD 112- 122 LEEVKAKVQPY - K 123- 144 LDDFQKKWQEEMELYRQKVEPL 145- 166 RAELQEGARQKLHELQEKLSPL 167- 188 GEEMRDRARAHVDALRTHLAPY 189- 210 SDELRQRLAARLEALKENGGAR 211- 232 LAEYHAKATEHLSTLSEKAKPA 233- 243 LEDLRQGLLPV - K 244- 267 LESFKVSFLSALEEYTKKLNTQ
Function
"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"
Mutation
Disease
"DISEASE: High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Note=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 ; DISEASE: Amyloidosis 8 (AMYL8) [MIM:105200]: A 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 Note=The disease is caused by mutations affecting the gene represented in this entry"