ALBU_HUMAN
Source:
hRBCD
; ID:
IPI00022434
PM19886704
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
ALB
, GIG20, GIG42, PRO0903, PRO1708, PRO2044, PRO2619, PRO2675, UNQ696/PRO1341
Protein names and data:
ALBU_HUMAN
, Serum albumin; Flags: Precursor
Lenght: 609 a.a.
Mass: 69367 Da
fasta formatted sequence
Function:
Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc.
Disease:
( OMIM:
103600
)
Dysalbuminemic hyperthyroxinemia (DH) [MIM:103600]: A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Tissue specificity:
Plasma.
Genetic variants
A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A.
23 - 23
R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill). VAR_000499
23 - 23
R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3). VAR_000500
24 - 24
R -> L (in Jaffna). VAR_000501
24 - 24
R -> P (in Takefu/Honolulu-1). VAR_000502
24 - 24
R -> Q (in Christchurch/Honolulu-2). VAR_000503
25 - 25
D -> V (in Bleinheim/Iowa city-2). VAR_000504
27 - 27
H -> Q (in Nagasaki-3). VAR_000505
27 - 27
H -> Y (in Larino). VAR_000506
73 - 73
F -> Y. VAR_010657
84 - 84
E -> K (in Torino). VAR_000507
87 - 87
D -> N (in Malmo-95/Dalakarlia). VAR_000508
90 - 90
L -> P (in DH). VAR_013011
106 - 106
E -> K (in Vibo Valentia). VAR_000509
121 - 121
E -> G. VAR_014290
138 - 138
R -> G (in Yanomama-2). VAR_000510
143 - 143
E -> K (in Nagoya). VAR_000511
146 - 146
V -> E (in Tregasio). VAR_013012
152 - 152
H -> R (in Komagome-2). VAR_000512
201 - 201
C -> F (in Hawkes bay). VAR_000513
215 - 215
A -> T (in dbSNP:rs3210154). VAR_014291
3210154
215 - 215
A -> V (in dbSNP:rs3204504). VAR_014292
3204504
220 - 220
Q -> L (in dbSNP:rs3210163). VAR_014293
3210163
242 - 242
R -> H (in DH). VAR_000514
242 - 242
R -> P (in DH). VAR_013013
249 - 249
K -> Q (in Tradate-2). VAR_000515
264 - 264
K -> E (in Herborn). VAR_000516
292 - 292
Q -> R (in Malmo-10). VAR_000517
293 - 293
D -> G (in Nagasaki-1). VAR_000518
300 - 300
K -> N (in Caserta). VAR_000519
337 - 337
K -> N (in Canterbury/New Guinea/ Tagliacozzo/Cuneo/Cooperstown). VAR_000520
338 - 338
D -> G (in Bergamo). VAR_013014
338 - 338
D -> V (in Brest). VAR_013015
342 - 342
N -> K (in Malmo-47). VAR_000521
344 - 344
A -> T (in Redhill; associated with C- 23). VAR_000522
345 - 345
E -> K (in Roma). VAR_000523
357 - 357
E -> K (in Sondrio). VAR_000524
378 - 378
E -> K (in Hiroshima-1). VAR_000525
382 - 382
E -> K (in Coari I/Porto Alegre). VAR_000526
383 - 383
K -> N (in Trieste). VAR_013016
389 - 389
D -> H (in Parklands). VAR_000527
389 - 389
D -> V (in Iowa city-1). VAR_000528
396 - 396
K -> E (in Naskapi/Mersin/Komagome-1). VAR_000529
399 - 399
D -> N (in Nagasaki-2). VAR_000530
400 - 400
E -> K (in Tochigi). VAR_000531
400 - 400
E -> Q (in Malmo-5). VAR_000532
406 - 406
E -> K (in Hiroshima-2). VAR_000533
420 - 420
E -> K. VAR_014294
434 - 434
R -> C (in Liprizzi). VAR_013017
490 - 490
K -> E (in dbSNP:rs1063469). VAR_014295
1063469
503 - 503
E -> K (in Dublin). VAR_000534
518 - 518
D -> N (in Casebrook). VAR_000535
525 - 525
E -> K (in Manaus-1/Adana/Lambadi/ Vancouver). VAR_000536
529 - 529
E -> K (in Ortonovo). VAR_000537
557 - 557
V -> M (in Maddaloni; dbSNP:rs78284052). VAR_013018
78284052
560 - 560
K -> E (in Castel di Sangro). VAR_000538
565 - 565
K -> E (in Maku). VAR_000539
574 - 574
D -> A (in Malmo-61). VAR_000541
574 - 574
D -> G (in Mexico). VAR_000540
584 - 584
K -> E (in Church bay). VAR_013019
587 - 587
D -> N (in Fukuoka-1/Paris-2). VAR_000542
589 - 589
E -> K (in Osaka-1). VAR_000543
594 - 594
E -> K (in Osaka-2/Phnom Phen/albumin B/ Verona). VAR_000544
596 - 609
GKKLVAASQAALGL -> PTMRIRERK (in Venezia). VAR_000547
597 - 597
K -> E (in Gent/Milano Fast). VAR_000545
598 - 598
K -> N (in Vanves). VAR_000546
599 - 609
LVAASQAALGL -> TCCCKSSCLRLITSHLKASQPTMRIR ERK (in Kenitra). VAR_012981
Database cross-references
UniProt:
P02768
Ensembl:
ENST00000295897
Ensembl:
ENST00000509063
MIM:
103600
neXtProt:
NX_P02768
Antibodypedia:
P02768
(may not find the protein thus also not any antibody)
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