APOB_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
APOB
Protein names and data:
APOB_HUMAN
, Apolipoprotein B-100; Apo B-100; Apolipoprotein B-48; Apo B-48; Flags: Precursor
Lenght: 4563 a.a.
Mass: 515605 Da
fasta formatted sequence
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.
Disease:
( OMIM:
107730
144010
)
Familial hypobetalipoproteinemia 1 (FHBL1) [MIM:107730]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
Cellular location:
Cytoplasm. Secreted.
Genetic variants
12 - 14
Missing. VAR_067277
98 - 98
T -> I (in dbSNP:rs1367117). VAR_016184
1367117
103 - 103
Y -> H (in dbSNP:rs9282603). VAR_022036
9282603
145 - 145
P -> S (in dbSNP:rs6752026). VAR_022037
6752026
194 - 194
T -> M (in dbSNP:rs13306198). VAR_056737
13306198
273 - 273
K -> N (in dbSNP:rs1126419). VAR_019827
1126419
408 - 408
I -> T (in dbSNP:rs12714225). VAR_029341
12714225
490 - 490
R -> W (in FHBL1; reduced protein secretion). VAR_022610
554 - 554
P -> L (in dbSNP:rs12714214). VAR_020135
12714214
618 - 618
A -> V (in dbSNP:rs679899). VAR_019828
679899
730 - 730
V -> I (in dbSNP:rs12691202). VAR_020136
12691202
733 - 733
V -> I (in dbSNP:rs1800476). VAR_016185
1800476
741 - 741
T -> N (in dbSNP:rs12714192). VAR_020137
12714192
877 - 877
P -> L (in dbSNP:rs12714097). VAR_029342
12714097
955 - 955
P -> S (in dbSNP:rs13306206). VAR_056738
13306206
1086 - 1086
G -> S (in dbSNP:rs12720801). VAR_029343
12720801
1113 - 1113
D -> H (in dbSNP:rs12713844). VAR_029344
12713844
1128 - 1128
R -> H (in dbSNP:rs12713843). VAR_022611
12713843
1218 - 1218
Q -> E (polymorphism confirmed at protein level; dbSNP:rs1041956). VAR_019829
1041956
1388 - 1388
R -> H (in dbSNP:rs13306187). VAR_029345
13306187
1422 - 1422
Y -> C (in dbSNP:rs568413). VAR_061558
568413
1437 - 1437
F -> L (in dbSNP:rs1801697). VAR_005016
1801697
1613 - 1613
S -> T. VAR_067278
1670 - 1670
E -> D (polymorphism confirmed at protein level). VAR_068911
1914 - 1914
N -> S (in dbSNP:rs1801699). VAR_005017
1801699
1923 - 1923
H -> R (in dbSNP:rs533617). VAR_005018
533617
2037 - 2037
I -> N (polymorphism confirmed at protein level). VAR_068912
2092 - 2092
L -> V (in dbSNP:rs1041960). VAR_019830
1041960
2299 - 2299
D -> H (in dbSNP:rs12713681). VAR_029346
12713681
2313 - 2313
I -> V (in dbSNP:rs584542). VAR_059582
584542
2365 - 2365
A -> T (in dbSNP:rs1041971). VAR_019831
1041971
2456 - 2456
A -> D (in dbSNP:rs12713675). VAR_020138
12713675
2564 - 2564
F -> C (in a colorectal cancer sample; somatic mutation; polymorphism confirmed at protein level). VAR_035795
2566 - 2566
E -> K (polymorphism confirmed at protein level; dbSNP:rs1801696). VAR_005019
1801696
2680 - 2680
L -> Q (in dbSNP:rs1042013). VAR_019832
1042013
2739 - 2739
P -> L (in dbSNP:rs676210). VAR_005020
676210
2785 - 2785
N -> H (in dbSNP:rs2163204). VAR_022038
2163204
3121 - 3121
A -> T (in dbSNP:rs1801694). VAR_005021
1801694
3182 - 3182
H -> N (in dbSNP:rs12720848). VAR_029347
12720848
3279 - 3279
S -> G (in dbSNP:rs12720854). VAR_029348
12720854
3294 - 3294
S -> P (in dbSNP:rs12720855). VAR_020139
12720855
3319 - 3319
D -> H. VAR_005022
3427 - 3427
T -> K. VAR_005023
3432 - 3432
Q -> E (in dbSNP:rs1042023). VAR_005024
1042023
3527 - 3527
R -> Q (in FDB; dbSNP:rs5742904). VAR_005025
5742904
3558 - 3558
R -> C (in FDB; dbSNP:rs12713559). VAR_005026
12713559
3638 - 3638
R -> Q (in dbSNP:rs1801701). VAR_016186
1801701
3732 - 3732
I -> T (in dbSNP:rs1042025). VAR_019833
1042025
3801 - 3801
S -> T (in dbSNP:rs12713540). VAR_029349
12713540
3835 - 3835
I -> L. VAR_067279
3921 - 3921
V -> I (in dbSNP:rs72654409). VAR_005027
72654409
3945 - 3945
T -> A (in dbSNP:rs1801698). VAR_005028
1801698
3949 - 3949
F -> L (in dbSNP:rs1042027). VAR_019834
1042027
3964 - 3964
Y -> F (in dbSNP:rs1126468). VAR_019835
1126468
4128 - 4128
V -> M (in dbSNP:rs1801703). VAR_005029
1801703
4181 - 4181
E -> K (in dbSNP:rs1042031). VAR_016187
1042031
4270 - 4270
R -> T (in dbSNP:rs1801702). VAR_016188
1801702
4314 - 4314
I -> V (in dbSNP:rs72654423). VAR_067280
72654423
4338 - 4338
S -> N (in dbSNP:rs1042034). VAR_005030
1042034
4394 - 4394
V -> A (in dbSNP:rs12720843). VAR_029350
12720843
4481 - 4481
A -> T (in dbSNP:rs1801695). VAR_005031
1801695
4482 - 4482
I -> V. VAR_067281
4484 - 4484
T -> M (in dbSNP:rs12713450). VAR_020140
12713450
Database cross-references
UniProt:
P04114
Ensembl:
ENST00000233242
MIM:
107730
MIM:
144010
neXtProt:
NX_P04114
Antibodypedia:
P04114
(may not find the protein thus also not any antibody)
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