SC23B_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
SEC23B
Protein names and data:
SC23B_HUMAN
, Protein transport protein Sec23B
, SEC23-related protein B
Lenght: 767 a.a.
Mass: 86479 Da
fasta formatted sequence
Function:
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex (By similarity).
Disease:
( OMIM:
224100
610512
)
Congenital dyserythropoietic anemia 2 (CDA2) [MIM:224100]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Golgi apparatus membrane (By similarity). Endoplasmic reticulum membrane (By similarity). Endoplasmic reticulum-Golgi intermediate compartment membrane (By similarity).
Genetic variants
14 - 14
R -> W (in CDA2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type). VAR_062294
18 - 18
R -> H. VAR_062295
109 - 109
E -> K (in CDA2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type). VAR_062296
239 - 239
D -> G (the mutant protein is expressed as the wild-type). VAR_062297
313 - 313
R -> H. VAR_062298
318 - 318
I -> T. VAR_062299
348 - 348
D -> A (in CDA2). VAR_062300
373 - 373
M -> V (in dbSNP:rs17849992). VAR_062301
17849992
386 - 386
Q -> R. VAR_062302
426 - 426
V -> I (in dbSNP:rs41309927). VAR_062303
41309927
433 - 433
P -> L (in dbSNP:rs17807673). VAR_034482
17807673
462 - 462
Y -> C. VAR_062304
489 - 489
H -> Q (in dbSNP:rs2273526). VAR_020318
2273526
497 - 497
R -> C (in CDA2; unknown pathological significance). VAR_062305
524 - 524
A -> V. VAR_062306
530 - 530
R -> W (in CDA2). VAR_062307
603 - 603
S -> L (in CDA2). VAR_062308
701 - 701
R -> C (in CDA2; dbSNP:rs201270568). VAR_062309
201270568
Database cross-references
UniProt:
Q15437
Ensembl:
ENST00000262544
Ensembl:
ENST00000336714
Ensembl:
ENST00000377465
Ensembl:
ENST00000377475
MIM:
224100
MIM:
610512
neXtProt:
NX_Q15437
Antibodypedia:
Q15437
(may not find the protein thus also not any antibody)
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