Protein transport protein Sec23B (SEC23B)
The protein contains 767 amino acids for an estimated molecular weight of 86479 Da.
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. (updated: Jan. 31, 2018)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
COPII-coated vesicle budding
COPII-coated vesicle cargo loading
Endoplasmic reticulum to Golgi vesicle-mediated transport
Golgi organization
Intracellular protein transport
Macroautophagy
Regulation of cell shape
Regulation of COPII vesicle coating
Vesicle-mediated transport
Cellular Component
COPII vesicle coat
Cytosol
Endomembrane system
Endoplasmic reticulum
Endoplasmic reticulum exit site
Endoplasmic reticulum membrane
Endoplasmic reticulum-Golgi intermediate compartment membrane
Golgi membrane
Intracellular membrane-bounded organelle
Membrane
Perinuclear region of cytoplasm
The reference OMIM entry for this protein is 224100
Anemia, congenital dyserythropoietic, type ii; cdan2
Dyserythropoietic anemia, congenital, type ii
Cda ii
Dyserythropoietic anemia, hempas type
Hereditary erythroblastic multinuclearity with positive acidified-serum test; hempas
A number sign (#) is used with this entry because congenital dyserythropoietic anemia type II (CDAN2) is caused by homozygous or compound heterozygous mutation in the SEC23B gene (610512) on chromosome 20p11. For a general description and a discussion of genetic heterogeneity of CDA, see CDAN1 (224120).
CLINICAL FEATURES
Verwilghen et al. (1969) reported 2 families. De Lozzio et al. (1962) studied an affected woman with 2 affected sisters. The parents could not be examined. They demonstrated endopolyploidy by chromosome studies of bone marrow. The karyotype of skin cells was normal. They pointed out that several instances are known in plants and animals where the mitotic process is influenced by mutant genes. Crookston et al. (1969) observed 5 patients, including 2 sisters, with what appeared to be the same disorder: anemia characterized by multiple nuclei in erythroblasts, ineffective erythropoiesis, and lysis of red cells by acidified serum from some persons. Enquist et al. (1972) described 3 cases in a sibship of 10. They described the occurrence of Gaucher-like histiocytes in bone marrow, resembling those seen in chronic myelogenous leukemia and thalassemia. They made the important observation that heterozygotes may show some of the serologic abnormalities of HEMPAS without clinical disease. Increased susceptibility to lysis by anti-I antibody (110800) is a feature of HEMPAS. Lowenthal et al. (1980) reported an atypical case in a man who was the product of a first-cousin Anglo-Saxon marriage and whose twin brother was also affected. At age 43 years, the man showed 2 unusual features: severe tophaceous gout and massive splenomegaly. Hematologic peculiarities suggested that the disorder in the twins represented a distinct form of congenital dyserythropoietic anemia. In a retrospective study of 41 patients with CDA II, Perrotta et al. (2000) found that patients with coinheritance of Gilbert syndrome (143500) had a significantly increased risk of hyperbilirubinemia and gallstone formation and a significantly earlier age at diagnosis of gallstones. Iolascon et al. (2001) reviewed data on 98 patients from unrelated families enrolled in the International Registry of CDA II. The mean age at presentation was 5.2 +/- 6.1 years. Anemia was present in 66% and jaundice in 53.4% of cases. The mean age at correct diagnosis was 15.9 +/- 11.8 years. In 23% of patients for whom data were available, anemia developed during the neonatal period, and 10 of these individuals required transfusions. Splenectomy produced an increased hemoglobin (P less than 0.001) and a reduced bilirubin level (P = 0.007) in comparison with values before splenectomy. Preliminary data indicated that iron overload occurs irrespective of the hemochromatosis genotype. Bianchi et al. (2009) reported 13 patients from 10 unrelated families with CDA type II. Eleven patients were Italian, 1 was Bolivian, and 1 was Rumanian. The age at diagnosis ranged from 2 to 54 years. Variable but common features included splenomegaly with splenectomy, blood transfusion, cholelithiasis, cholecystectomy, anemia, increased reticulocytes, increased unconjugated bilirubin, increased erythrocyte osmotic fragility, and hypoglycosylation of red blood cells. Only 1 patient had neonatal jaundice.BIOCHEMICAL FEATURES
CDA Type II, which is also known as 'hereditary erythroblastic multinuclearity with a positive acidified serum (HEMPAS) test,' is distinguished by a positive acidified se ... More on the omim web site
Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 224100 was added.