APOB
entrez
338
canonical
uniprot
P04114
canonical
ensembl
ENSG00000084674
resolver
ensembl
ENSG00000291544
resolver
ensp
ENSP00000233242
resolver
ensp
ENSP00000517053
resolver
enst
ENST00000233242
resolver
enst
ENST00000707961
resolver
genesymbol
APOB
resolver
hgnc
HGNC:603
resolver
uniprot
A0AAG2UUW0
resolver
uniprot
O00502
resolver
uniprot
P78479
resolver
uniprot
P78480
resolver
uniprot
P78481
resolver
uniprot
Q13779
resolver
uniprot
Q13785
resolver
uniprot
Q13786
resolver
uniprot
Q13787
resolver
uniprot
Q13788
resolver
uniprot
Q4ZG63
resolver
uniprot
Q53QC8
resolver
uniprot
Q59HB3
resolver
uniprot
Q7Z600
resolver
uniprot
Q7Z7Q0
resolver
uniprot
Q9UMN0
resolver
uniprot_entry
A0AAG2UUW0_HUMAN
resolver
uniprot_entry
APOB_HUMAN
resolver
uniprot_entry
Q59HB3_HUMAN
resolver
uniprot_entry
Q7Z7Q0_HUMAN
resolver
uniprot_sec
O00502
resolver
uniprot_sec
P78479
resolver
uniprot_sec
P78480
resolver
uniprot_sec
P78481
resolver
uniprot_sec
Q13779
resolver
uniprot_sec
Q13785
resolver
uniprot_sec
Q13786
resolver
uniprot_sec
Q13787
resolver
uniprot_sec
Q13788
resolver
uniprot_sec
Q4ZG63
resolver
uniprot_sec
Q53QC8
resolver
uniprot_sec
Q7Z600
resolver
uniprot_sec
Q9UMN0
resolver
amino_acid_sequence
MDPPRPALLALLALPALLLLLLAGARAEEEMLENVSLVCPKDATRFKHLRKYTYNYEAESSSGVPGTADSRSATRINCKVELEVPQLCSFILKTSQCTLKEVYGFNPEGKALLKKTKNSEEFAAAMSRYELKLAIPEGKQVFLYPEKDEPTYILNIKRGIISALLVPPETEEAKQVLFLDTVYGNCSTHFTVKTRKGNVATEISTERDLGQCDRFKPIRTGISPLALIKGMTRPLSTLISSSQSCQYTLDAKRKHVAEAICKEQHLFLPFSYKNKYGMVAQVTQTLKLEDTPKINSRFFGEGTKKMGLAFESTKSTSPPKQAEAVLKTLQELKKLTISEQNIQRANLFNKLVTELRGLSDEAVTSLLPQLIEVSSPITLQALVQCGQPQCSTHILQWLKRVHANPLLIDVVTYLVALIPEPSAQQLREIFNMARDQRSRATLYALSHAVNNYHKTNPTGTQELLDIANYLMEQIQDDCTGDEDYTYLILRVIGNMGQTMEQLTPELKSSILKCVQSTKPSLMIQKAAIQALRKMEPKDKDQEVLLQTFLDDASPGDKRLAAYLMLMRSPSQADINKIVQILPWEQNEQVKNFVASHIANILNSEELDIQDLKKLVKEALKESQLPTVMDFRKFSRNYQLYKSVSLPSLDPASAKIEGNLIFDPNNYLPKESMLKTTLTAFGFASADLIEIGLEGKGFEPTLEALFGKQGFFPDSVNKALYWVNGQVPDGVSKVLVDHFGYTKDDKHEQDMVNGIMLSVEKLIKDLKSKEVPEARAYLRILGEELGFASLHDLQLLGKLLLMGARTLQGIPQMIGEVIRKGSKNDFFLHYIFMENAFELPTGAGLQLQISSSGVIAPGAKAGVKLEVANMQAELVAKPSVSVEFVTNMGIIIPDFARSGVQMNTNFFHESGLEAHVALKAGKLKFIIPSPKRPVKLLSGGNTLHLVSTTKTEVIPPLIENRQSWSVCKQVFPGLNYCTSGAYSNASSTDSASYYPLTGDTRLELELRPTGEIEQYSVSATYELQREDRALVDTLKFVTQAEGAKQTEATMTFKYNRQSMTLSSEVQIPDFDVDLGTILRVNDESTEGKTSYRLTLDIQNKKITEVALMGHLSCDTKEERKIKGVISIPRLQAEARSEILAHWSPAKLLLQMDSSATAYGSTVSKRVAWHYDEEKIEFEWNTGTNVDTKKMTSNFPVDLSDYPKSLHMYANRLLDHRVPQTDMTFRHVGSKLIVAMSSWLQKASGSLPYTQTLQDHLNSLKEFNLQNMGLPDFHIPENLFLKSDGRVKYTLNKNSLKIEIPLPFGGKSSRDLKMLETVRTPALHFKSVGFHLPSREFQVPTFTIPKLYQLQVPLLGVLDLSTNVYSNLYNWSASYSGGNTSTDHFSLRARYHMKADSVVDLLSYNVQGSGETTYDHKNTFTLSCDGSLRHKFLDSNIKFSHVEKLGNNPVSKGLLIFDASSSWGPQMSASVHLDSKKKQHLFVKEVKIDGQFRVSSFYAKGTYGLSCQRDPNTGRLNGESNLRFNSSYLQGTNQITGRYEDGTLSLTSTSDLQSGIIKNTASLKYENYELTLKSDTNGKYKNFATSNKMDMTFSKQNALLRSEYQADYESLRFFSLLSGSLNSHGLELNADILGTDKINSGAHKATLRIGQDGISTSATTNLKCSLLVLENELNAELGLSGASMKLTTNGRFREHNAKFSLDGKAALTELSLGSAYQAMILGVDSKNIFNFKVSQEGLKLSNDMMGSYAEMKFDHTNSLNIAGLSLDFSSKLDNIYSSDKFYKQTVNLQLQPYSLVTTLNSDLKYNALDLTNNGKLRLEPLKLHVAGNLKGAYQNNEIKHIYAISSAALSASYKADTVAKVQGVEFSHRLNTDIAGLASAIDMSTNYNSDSLHFSNVFRSVMAPFTMTIDAHTNGNGKLALWGEHTGQLYSKFLLKAEPLAFTFSHDYKGSTSHHLVSRKSISAALEHKVSALLTPAEQTGTWKLKTQFNNNEYSQDLDAYNTKDKIGVELTGRTLADLTLLDSPIKVPLLLSEPINIIDALEMRDAVEKPQEFTIVAFVKYDKNQDVHSINLPFFETLQEYFERNRQTIIVVLENVQRNLKHINIDQFVRKYRAALGKLPQQANDYLNSFNWERQVSHAKEKLTALTKKYRITENDIQIALDDAKINFNEKLSQLQTYMIQFDQYIKDSYDLHDLKIAIANIIDEIIEKLKSLDEHYHIRVNLVKTIHDLHLFIENIDFNKSGSSTASWIQNVDTKYQIRIQIQEKLQQLKRHIQNIDIQHLAGKLKQHIEAIDVRVLLDQLGTTISFERINDILEHVKHFVINLIGDFEVAEKINAFRAKVHELIERYEVDQQIQVLMDKLVELAHQYKLKETIQKLSNVLQQVKIKDYFEKLVGFIDDAVKKLNELSFKTFIEDVNKFLDMLIKKLKSFDYHQFVDETNDKIREVTQRLNGEIQALELPQKAEALKLFLEETKATVAVYLESLQDTKITLIINWLQEALSSASLAHMKAKFRETLEDTRDRMYQMDIQQELQRYLSLVGQVYSTLVTYISDWWTLAAKNLTDFAEQYSIQDWAKRMKALVEQGFTVPEIKTILGTMPAFEVSLQALQKATFQTPDFIVPLTDLRIPSVQINFKDLKNIKIPSRFSTPEFTILNTFHIPSFTIDFVEMKVKIIRTIDQMLNSELQWPVPDIYLRDLKVEDIPLARITLPDFRLPEIAIPEFIIPTLNLNDFQVPDLHIPEFQLPHISHTIEVPTFGKLYSILKIQSPLFTLDANADIGNGTTSANEAGIAASITAKGESKLEVLNFDFQANAQLSNPKINPLALKESVKFSSKYLRTEHGSEMLFFGNAIEGKSNTVASLHTEKNTLELSNGVIVKINNQLTLDSNTKYFHKLNIPKLDFSSQADLRNEIKTLLKAGHIAWTSSGKGSWKWACPRFSDEGTHESQISFTIEGPLTSFGLSNKINSKHLRVNQNLVYESGSLNFSKLEIQSQVDSQHVGHSVLTAKGMALFGEGKAEFTGRHDAHLNGKVIGTLKNSLFFSAQPFEITASTNNEGNLKVRFPLRLTGKIDFLNNYALFLSPSAQQASWQVSARFNQYKYNQNFSAGNNENIMEAHVGINGEANLDFLNIPLTIPEMRLPYTIITTPPLKDFSLWEKTGLKEFLKTTKQSFDLSVKAQYKKNKHRHSITNPLAVLCEFISQSIKSFDRHFEKNRNNALDFVTKSYNETKIKFDKYKAEKSHDELPRTFQIPGYTVPVVNVEVSPFTIEMSAFGYVFPKAVSMPSFSILGSDVRVPSYTLILPSLELPVLHVPRNLKLSLPDFKELCTISHIFIPAMGNITYDFSFKSSVITLNTNAELFNQSDIVAHLLSSSSSVIDALQYKLEGTTRLTRKRGLKLATALSLSNKFVEGSHNSTVSLTTKNMEVSVATTTKAQIPILRMNFKQELNGNTKSKPTVSSSMEFKYDFNSSMLYSTAKGAVDHKLSLESLTSYFSIESSTKGDVKGSVLSREYSGTIASEANTYLNSKSTRSSVKLQGTSKIDDIWNLEVKENFAGEATLQRIYSLWEHSTKNHLQLEGLFFTNGEHTSKATLELSPWQMSALVQVHASQPSSFHDFPDLGQEVALNANTKNQKIRWKNEVRIHSGSFQSQVELSNDQEKAHLDIAGSLEGHLRFLKNIILPVYDKSLWDFLKLDVTTSIGRRQHLRVSTAFVYTKNPNGYSFSIPVKVLADKFIIPGLKLNDLNSVLVMPTFHVPFTDLQVPSCKLDFREIQIYKKLRTSSFALNLPTLPEVKFPEVDVLTKYSQPEDSLIPFFEITVPESQLTVSQFTLPKSVSDGIAALDLNAVANKIADFELPTIIVPEQTIEIPSIKFSVPAGIVIPSFQALTARFEVDSPVYNATWSASLKNKADYVETVLDSTCSSTVQFLEYELNVLGTHKIEDGTLASKTKGTFAHRDFSAEYEEDGKYEGLQEWEGKAHLNIKSPAFTDLHLRYQKDKKGISTSAASPAVGTVGMDMDEDDDFSKWNFYYSPQSSPDKKLTIFKTELRVRESDEETQIKVNWEEEAASGLLTSLKDNVPKATGVLYDYVNKYHWEHTGLTLREVSSKLRRNLQNNAEWVYQGAIRQIDDIDVRFQKAASGTTGTYQEWKDKAQNLYQELLTQEGQASFQGLKDNVFDGLVRVTQEFHMKVKHLIDSLIDFLNFPRFQFPGKPGIYTREELCTMFIREVGTVLSQVYSKVHNGSEILFSYFQDLVITLPFELRKHKLIDVISMYRELLKDLSKEAQEVFKAIQSLKTTEVLRNLQDLLQFIFQLIEDNIKQLKEMKFTYLINYIQDEINTIFSDYIPYVFKLLKENLCLNLHKFNEFIQNELQEASQELQQIHQYIMALREEYFDPSIVGWTVKYYELEEKIVSLIKNLLVALKDFHSEYIVSASNFTSQLSSQVEQFLHRNIQEYLSILTDPDGKGKEKIAELSATAQEIIKSQAIATKKIISDYHQQFRYKLQDFSDQLSDYYEKFIAESKRLIDLSIQNYHTFLIYITELLKKLQSTTVMNPYMKLAPGELTIIL
uniprot
proteins
disease_involvement
DISEASE: Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. {ECO:0000269|PubMed:12551903, ECO:0000269|PubMed:21981844, ECO:0000269|PubMed:27206948}. Note=The disease is caused by variants affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). {ECO:0000269|PubMed:21981844}.; DISEASE: Hypercholesterolemia, familial, 2 (FHCL2) [MIM:144010]: A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant. {ECO:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
uniprot
proteins
function
FUNCTION: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
uniprot
proteins
mass_dalton
515545
uniprot
proteins
mutagenesis
MUTAGEN 483; /note="D->N: Impairs protein secretion."; /evidence="ECO:0000269|PubMed:12551903"; MUTAGEN 483; /note="D->Q: Does not affect protein secretion."; /evidence="ECO:0000269|PubMed:12551903"; MUTAGEN 490; /note="R->A: Impairs protein secretion."; /evidence="ECO:0000269|PubMed:12551903"; MUTAGEN 490; /note="R->K: Does not affect protein secretion."; /evidence="ECO:0000269|PubMed:12551903
uniprot
proteins
post_translational_modification
PTM: Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle. {ECO:0000269|PubMed:10679026}.
uniprot
proteins
pubmed
10679026
uniprot
proteins
pubmed
12551903
uniprot
proteins
pubmed
14732481
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16548883
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
1979313
uniprot
proteins
pubmed
20686565
uniprot
proteins
pubmed
2115173
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21382890
uniprot
proteins
pubmed
21981844
uniprot
proteins
pubmed
22028381
uniprot
proteins
pubmed
22095935
uniprot
proteins
pubmed
2216805
uniprot
proteins
pubmed
22580899
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2445342
uniprot
proteins
pubmed
2450346
uniprot
proteins
pubmed
24916387
uniprot
proteins
pubmed
2563166
uniprot
proteins
pubmed
2567736
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
26224785
uniprot
proteins
pubmed
27206948
uniprot
proteins
pubmed
28183703
uniprot
proteins
pubmed
2883086
uniprot
proteins
pubmed
2932736
uniprot
proteins
pubmed
2994225
uniprot
proteins
pubmed
3001697
uniprot
proteins
pubmed
3024665
uniprot
proteins
pubmed
3030729
uniprot
proteins
pubmed
3087360
uniprot
proteins
pubmed
3095664
uniprot
proteins
pubmed
3426612
uniprot
proteins
pubmed
3461454
uniprot
proteins
pubmed
3464946
uniprot
proteins
pubmed
3513177
uniprot
proteins
pubmed
3621347
uniprot
proteins
pubmed
3652907
uniprot
proteins
pubmed
3659919
uniprot
proteins
pubmed
3676265
uniprot
proteins
pubmed
3759943
uniprot
proteins
pubmed
3763409
uniprot
proteins
pubmed
3773997
uniprot
proteins
pubmed
3841204
uniprot
proteins
pubmed
3841481
uniprot
proteins
pubmed
3860836
uniprot
proteins
pubmed
3903660
uniprot
proteins
pubmed
6373369
uniprot
proteins
pubmed
7883971
uniprot
proteins
pubmed
8889592
uniprot
proteins
pubmed
9259199
uniprot
proteins
pubmed
9490296
uniprot
proteins
sequence_length
4563
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22580899}. Secreted {ECO:0000269|PubMed:22580899, ECO:0000269|PubMed:26224785}. Lipid droplet {ECO:0000269|PubMed:28183703}.
uniprot
proteins