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Protein transport protein Sec23B (hSec23B) (SEC23-related protein B)

 SC23B_HUMAN             Reviewed;         767 AA.
Q15437; D3DW33; Q503A9; Q5W183; Q9BS15; Q9BSI2; Q9H1D7;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
23-JAN-2002, sequence version 2.
07-APR-2021, entry version 189.
RecName: Full=Protein transport protein Sec23B {ECO:0000305};
Short=hSec23B {ECO:0000303|PubMed:8898360};
AltName: Full=SEC23-related protein B;
Name=SEC23B {ECO:0000312|HGNC:HGNC:10702};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-489, AND TISSUE SPECIFICITY.
TISSUE=B-cell;
PubMed=8898360; DOI=10.1091/mbc.7.10.1535;
Paccaud J.-P., Reith W., Carpentier J.-L., Ravazzola M., Amherdt M.,
Schekman R., Orci L.;
"Cloning and functional characterization of mammalian homologues of the
COPII component Sec23.";
Mol. Biol. Cell 7:1535-1546(1996).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=11780052; DOI=10.1038/414865a;
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-373 AND LEU-433.
TISSUE=Cervix, Placenta, and Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[6]
ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
[LARGE SCALE ANALYSIS].
PubMed=22223895; DOI=10.1074/mcp.m111.015131;
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
Giglione C.;
"Comparative large-scale characterisation of plant vs. mammal proteins
reveals similar and idiosyncratic N-alpha acetylation features.";
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
[7]
ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
[LARGE SCALE ANALYSIS].
PubMed=22814378; DOI=10.1073/pnas.1210303109;
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
"N-terminal acetylome analyses and functional insights of the N-terminal
acetyltransferase NatB.";
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
VARIANTS CDAN2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701, AND
VARIANT GLN-489.
PubMed=19621418; DOI=10.1002/humu.21077;
Bianchi P., Fermo E., Vercellati C., Boschetti C., Barcellini W., Iurlo A.,
Marcello A.P., Righetti P.G., Zanella A.;
"Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations
in the SEC23B gene.";
Hum. Mutat. 30:1292-1298(2009).
[10]
VARIANTS CDAN2 TRP-14; LYS-109 AND TRP-530, VARIANTS HIS-18; GLY-239;
HIS-313; THR-318; ARG-386; ILE-426; CYS-462; CYS-497 AND VAL-524,
CHARACTERIZATION OF VARIANTS CDAN2 TRP-14 AND LYS-109, AND CHARACTERIZATION
OF VARIANT GLY-239.
PubMed=19561605; DOI=10.1038/ng.405;
Schwarz K., Iolascon A., Verissimo F., Trede N.S., Horsley W., Chen W.,
Paw B.H., Hopfner K.-P., Holzmann K., Russo R., Esposito M.R., Spano D.,
De Falco L., Heinrich K., Joggerst B., Rojewski M.T., Perrotta S.,
Denecke J., Pannicke U., Delaunay J., Pepperkok R., Heimpel H.;
"Mutations affecting the secretory COPII coat component SEC23B cause
congenital dyserythropoietic anemia type II.";
Nat. Genet. 41:936-940(2009).
[11]
VARIANTS CWS7 LEU-164 AND GLY-594, CHARACTERIZATION OF VARIANT CWS7
GLY-594, INTERACTION WITH SAR1A, AND SUBCELLULAR LOCATION.
PubMed=26522472; DOI=10.1016/j.ajhg.2015.10.001;
Yehia L., Niazi F., Ni Y., Ngeow J., Sankunny M., Liu Z., Wei W.,
Mester J.L., Keri R.A., Zhang B., Eng C.;
"Germline heterozygous variants in SEC23B are associated with Cowden
syndrome and enriched in apparently sporadic thyroid cancer.";
Am. J. Hum. Genet. 97:661-676(2015).
-!- FUNCTION: 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.
{ECO:0000250|UniProtKB:Q15436}.
-!- SUBUNIT: COPII is composed of at least five proteins: the Sec23/24
complex, the Sec13/31 complex and Sar1 (By similarity). Interacts with
SAR1A (PubMed:26522472). {ECO:0000250|UniProtKB:Q15436,
ECO:0000269|PubMed:26522472}.
-!- INTERACTION:
Q15437; Q8N684: CPSF7; NbExp=3; IntAct=EBI-742673, EBI-746909;
Q15437; Q86UW9: DTX2; NbExp=6; IntAct=EBI-742673, EBI-740376;
Q15437; Q969F0: FATE1; NbExp=3; IntAct=EBI-742673, EBI-743099;
Q15437; O43365: HOXA3; NbExp=4; IntAct=EBI-742673, EBI-8643838;
Q15437; P42858: HTT; NbExp=3; IntAct=EBI-742673, EBI-466029;
Q15437; Q96M27: PRRC1; NbExp=3; IntAct=EBI-742673, EBI-2560879;
Q15437; Q13671: RIN1; NbExp=3; IntAct=EBI-742673, EBI-366017;
Q15437; Q15436: SEC23A; NbExp=3; IntAct=EBI-742673, EBI-81088;
Q15437; O94855: SEC24D; NbExp=6; IntAct=EBI-742673, EBI-748817;
Q15437; O94855-2: SEC24D; NbExp=3; IntAct=EBI-742673, EBI-12081096;
Q15437; P09234: SNRPC; NbExp=3; IntAct=EBI-742673, EBI-766589;
Q15437; Q8N205: SYNE4; NbExp=3; IntAct=EBI-742673, EBI-7131783;
-!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle
membrane {ECO:0000250|UniProtKB:Q15436}; Peripheral membrane protein
{ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side
{ECO:0000250|UniProtKB:Q15436}. Endoplasmic reticulum membrane
{ECO:0000269|PubMed:26522472}; Peripheral membrane protein
{ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side
{ECO:0000250|UniProtKB:Q15436}. Cytoplasm, cytosol
{ECO:0000250|UniProtKB:Q15436}.
-!- TISSUE SPECIFICITY: Ubiquitously expressed.
{ECO:0000269|PubMed:8898360}.
-!- DISEASE: Cowden syndrome 7 (CWS7) [MIM:616858]: A form of Cowden
syndrome, a hamartomatous polyposis syndrome with age-related
penetrance. Cowden syndrome is characterized by hamartomatous lesions
affecting derivatives of ectodermal, mesodermal and endodermal layers,
macrocephaly, facial trichilemmomas (benign tumors of the hair follicle
infundibulum), acral keratoses, papillomatous papules, and elevated
risk for development of several types of malignancy, particularly
breast carcinoma in women and thyroid carcinoma in both men and women.
Colon cancer and renal cell carcinoma have also been reported.
Hamartomas can be found in virtually every organ, but most commonly in
the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance
is autosomal dominant. {ECO:0000269|PubMed:26522472}. Note=The disease
is caused by variants affecting the gene represented in this entry.
-!- DISEASE: Anemia, congenital dyserythropoietic, 2 (CDAN2) [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.
{ECO:0000269|PubMed:19561605, ECO:0000269|PubMed:19621418}. Note=The
disease is caused by variants affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the SEC23/SEC24 family. SEC23 subfamily.
{ECO:0000305}.
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EMBL; X97065; CAA65775.1; -; mRNA.
EMBL; AL121893; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL121900; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471133; EAX10231.1; -; Genomic_DNA.
EMBL; CH471133; EAX10232.1; -; Genomic_DNA.
EMBL; CH471133; EAX10233.1; -; Genomic_DNA.
EMBL; CH471133; EAX10234.1; -; Genomic_DNA.
EMBL; CH471133; EAX10235.1; -; Genomic_DNA.
EMBL; BC005032; AAH05032.1; -; mRNA.
EMBL; BC005404; AAH05404.1; -; mRNA.
EMBL; BC095404; AAH95404.1; -; mRNA.
CCDS; CCDS13137.1; -.
RefSeq; NP_001166216.1; NM_001172745.1.
RefSeq; NP_006354.2; NM_006363.4.
RefSeq; NP_116780.1; NM_032985.4.
RefSeq; NP_116781.1; NM_032986.3.
RefSeq; XP_016883082.1; XM_017027593.1.
SMR; Q15437; -.
BioGRID; 115746; 150.
IntAct; Q15437; 42.
MINT; Q15437; -.
STRING; 9606.ENSP00000338844; -.
iPTMnet; Q15437; -.
MetOSite; Q15437; -.
PhosphoSitePlus; Q15437; -.
BioMuta; SEC23B; -.
DMDM; 20141794; -.
EPD; Q15437; -.
jPOST; Q15437; -.
MassIVE; Q15437; -.
MaxQB; Q15437; -.
PaxDb; Q15437; -.
PeptideAtlas; Q15437; -.
PRIDE; Q15437; -.
ProteomicsDB; 60596; -.
Antibodypedia; 1407; 181 antibodies.
DNASU; 10483; -.
Ensembl; ENST00000262544; ENSP00000262544; ENSG00000101310.
Ensembl; ENST00000336714; ENSP00000338844; ENSG00000101310.
Ensembl; ENST00000377465; ENSP00000366685; ENSG00000101310.
Ensembl; ENST00000650089; ENSP00000497473; ENSG00000101310.
GeneID; 10483; -.
KEGG; hsa:10483; -.
UCSC; uc002wqz.3; human.
CTD; 10483; -.
DisGeNET; 10483; -.
GeneCards; SEC23B; -.
HGNC; HGNC:10702; SEC23B.
HPA; ENSG00000101310; Low tissue specificity.
MalaCards; SEC23B; -.
MIM; 224100; phenotype.
MIM; 610512; gene.
MIM; 616858; phenotype.
neXtProt; NX_Q15437; -.
OpenTargets; ENSG00000101310; -.
Orphanet; 98873; Congenital dyserythropoietic anemia type II.
Orphanet; 201; Cowden syndrome.
PharmGKB; PA35625; -.
VEuPathDB; HostDB:ENSG00000101310.14; -.
eggNOG; KOG1986; Eukaryota.
GeneTree; ENSGT00390000006916; -.
HOGENOM; CLU_008658_3_0_1; -.
InParanoid; Q15437; -.
OMA; PWNIIPV; -.
OrthoDB; 270617at2759; -.
PhylomeDB; Q15437; -.
TreeFam; TF300693; -.
PathwayCommons; Q15437; -.
BioGRID-ORCS; 10483; 35 hits in 995 CRISPR screens.
ChiTaRS; SEC23B; human.
GeneWiki; SEC23B; -.
GenomeRNAi; 10483; -.
Pharos; Q15437; Tbio.
PRO; PR:Q15437; -.
Proteomes; UP000005640; Chromosome 20.
RNAct; Q15437; protein.
Bgee; ENSG00000101310; Expressed in endothelial cell and 236 other tissues.
ExpressionAtlas; Q15437; baseline and differential.
Genevisible; Q15437; HS.
GO; GO:0030127; C:COPII vesicle coat; IBA:GO_Central.
GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
GO; GO:0012505; C:endomembrane system; IDA:MGI.
GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
GO; GO:0070971; C:endoplasmic reticulum exit site; IBA:GO_Central.
GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
GO; GO:0090110; P:COPII-coated vesicle cargo loading; IBA:GO_Central.
GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
CDD; cd11287; Sec23_C; 1.
Gene3D; 3.40.20.10; -; 1.
Gene3D; 3.40.50.410; -; 1.
InterPro; IPR029006; ADF-H/Gelsolin-like_dom_sf.
InterPro; IPR007123; Gelsolin-like_dom.
InterPro; IPR036180; Gelsolin-like_dom_sf.
InterPro; IPR037364; Sec23.
InterPro; IPR006900; Sec23/24_helical_dom.
InterPro; IPR036175; Sec23/24_helical_dom_sf.
InterPro; IPR006896; Sec23/24_trunk_dom.
InterPro; IPR012990; Sec23_24_beta_S.
InterPro; IPR037550; Sec23_C.
InterPro; IPR036465; vWFA_dom_sf.
InterPro; IPR006895; Znf_Sec23_Sec24.
InterPro; IPR036174; Znf_Sec23_Sec24_sf.
PANTHER; PTHR11141; PTHR11141; 1.
Pfam; PF00626; Gelsolin; 1.
Pfam; PF08033; Sec23_BS; 1.
Pfam; PF04815; Sec23_helical; 1.
Pfam; PF04811; Sec23_trunk; 1.
Pfam; PF04810; zf-Sec23_Sec24; 1.
SUPFAM; SSF53300; SSF53300; 1.
SUPFAM; SSF81811; SSF81811; 1.
SUPFAM; SSF82754; SSF82754; 1.
SUPFAM; SSF82919; SSF82919; 1.
1: Evidence at protein level;
Acetylation; Congenital dyserythropoietic anemia; Cytoplasm;
Cytoplasmic vesicle; Disease variant; Endoplasmic reticulum;
ER-Golgi transport; Hereditary hemolytic anemia; Membrane; Metal-binding;
Protein transport; Reference proteome; Transport; Zinc.
INIT_MET 1
/note="Removed"
/evidence="ECO:0007744|PubMed:22223895,
ECO:0007744|PubMed:22814378"
CHAIN 2..767
/note="Protein transport protein Sec23B"
/id="PRO_0000205148"
REPEAT 634..720
/note="Gelsolin-like"
/evidence="ECO:0000255"
METAL 61
/note="Zinc"
/evidence="ECO:0000250|UniProtKB:Q15436"
METAL 66
/note="Zinc"
/evidence="ECO:0000250|UniProtKB:Q15436"
METAL 85
/note="Zinc"
/evidence="ECO:0000250|UniProtKB:Q15436"
METAL 88
/note="Zinc"
/evidence="ECO:0000250|UniProtKB:Q15436"
MOD_RES 2
/note="N-acetylalanine"
/evidence="ECO:0007744|PubMed:22223895,
ECO:0007744|PubMed:22814378"
MOD_RES 564
/note="N6-acetyllysine"
/evidence="ECO:0000250|UniProtKB:Q9D662"
VARIANT 14
/note="R -> W (in CDAN2; the mutant protein is unstable
with less than 5% of protein detectable compared to wild-
type; dbSNP:rs121918222)"
/evidence="ECO:0000269|PubMed:19561605,
ECO:0000269|PubMed:19621418"
/id="VAR_062294"
VARIANT 18
/note="R -> H (in dbSNP:rs905074313)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062295"
VARIANT 109
/note="E -> K (in CDAN2; the mutant protein is unstable
with less than 5% of protein detectable compared to wild-
type; dbSNP:rs121918221)"
/evidence="ECO:0000269|PubMed:19561605,
ECO:0000269|PubMed:19621418"
/id="VAR_062296"
VARIANT 164
/note="V -> L (in CWS7; unknown pathological significance;
dbSNP:rs36023150)"
/evidence="ECO:0000269|PubMed:26522472"
/id="VAR_076424"
VARIANT 239
/note="D -> G (the mutant protein is expressed as the wild-
type; dbSNP:rs761034212)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062297"
VARIANT 313
/note="R -> H (in dbSNP:rs750888081)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062298"
VARIANT 318
/note="I -> T (in dbSNP:rs953079477)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062299"
VARIANT 348
/note="D -> A (in CDAN2)"
/evidence="ECO:0000269|PubMed:19621418"
/id="VAR_062300"
VARIANT 373
/note="M -> V (in dbSNP:rs17849992)"
/evidence="ECO:0000269|PubMed:15489334"
/id="VAR_062301"
VARIANT 386
/note="Q -> R"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062302"
VARIANT 426
/note="V -> I (in dbSNP:rs41309927)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062303"
VARIANT 433
/note="P -> L (in dbSNP:rs17807673)"
/evidence="ECO:0000269|PubMed:15489334"
/id="VAR_034482"
VARIANT 462
/note="Y -> C (in dbSNP:rs780978419)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062304"
VARIANT 489
/note="H -> Q (in dbSNP:rs2273526)"
/evidence="ECO:0000269|PubMed:19621418,
ECO:0000269|PubMed:8898360"
/id="VAR_020318"
VARIANT 497
/note="R -> C (in CDAN2; unknown pathological significance;
dbSNP:rs727504145)"
/evidence="ECO:0000269|PubMed:19561605,
ECO:0000269|PubMed:19621418"
/id="VAR_062305"
VARIANT 524
/note="A -> V (in dbSNP:rs398124225)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062306"
VARIANT 530
/note="R -> W (in CDAN2; dbSNP:rs121918223)"
/evidence="ECO:0000269|PubMed:19561605"
/id="VAR_062307"
VARIANT 594
/note="V -> G (in CWS7; aberrant aggregation; causes
mislocalization of the protein in the cytoplasm; reduces
interaction with SAR1A; confers endoplasmic reticulum (ER)
stress-mediated cell growth advantage; dbSNP:rs752366963)"
/evidence="ECO:0000269|PubMed:26522472"
/id="VAR_076425"
VARIANT 603
/note="S -> L (in CDAN2)"
/evidence="ECO:0000269|PubMed:19621418"
/id="VAR_062308"
VARIANT 701
/note="R -> C (in CDAN2; dbSNP:rs201270568)"
/evidence="ECO:0000269|PubMed:19621418"
/id="VAR_062309"
SEQUENCE 767 AA; 86479 MW; 1A00DE39D56B0204 CRC64;
MATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD LPPVQYEPVL
CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG ISEVNQPAEL MPQFSTIEYV
IQRGAQSPLI FLYVVDTCLE EDDLQALKES LQMSLSLLPP DALVGLITFG RMVQVHELSC
EGISKSYVFR GTKDLTAKQI QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM
NLTDLLGELQ RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP
GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY ACALDQTGLL
EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF RMAFGATLDV KTSRELKIAG
AIGPCVSLNV KGPCVSENEL GVGGTSQWKI CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA
IQFVTHYQHS STQRRIRVTT IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE
GPDVLRWLDR QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD
ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL LMDTFFQIVI
YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA RFPMPRYINT EHGGSQARFL
LSKVNPSQTH NNLYAWGQET GAPILTDDVS LQVFMDHLKK LAVSSAC


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Pathways :
WP2272: Pathogenic Escherichia coli infection
WP1616: ABC transporters
WP1689: Porphyrin and chlorophyll metabolism
WP1713: Two-component system
WP1502: Mitochondrial biogenesis
WP2199: Seed Development
WP731: Sterol regulatory element binding protein related
WP1909: Signal regulatory protein (SIRP) family interactions
WP1685: Peptidoglycan biosynthesis
WP1624: Bacterial secretion system
WP2324: AGE/RAGE pathway
WP1650: Fluorobenzoate degradation
WP1692: Protein export
WP1371: G Protein Signaling Pathways
WP1700: Selenoamino acid metabolism
WP346: Protein Modifications
WP1659: Glycine, serine and threonine metabolism
WP1939: Unfolded Protein Response
WP1665: Limonene and pinene degradation
WP2032: TSH signaling pathway
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WP1675: Nitrogen metabolism
WP211: BMP signaling pathway
WP2218: sGC
WP813: G Protein Signaling Pathways

Related Genes :
[SEC23B] Protein transport protein Sec23B (hSec23B) (SEC23-related protein B)
[MIA3 KIAA0268 TANGO UNQ6077/PRO20088] Transport and Golgi organization protein 1 homolog (TANGO1) (C219-reactive peptide) (D320) (Melanoma inhibitory activity protein 3)
[Mia3 Kiaa0268 Tango] Transport and Golgi organization protein 1 homolog (TANGO1) (Melanoma inhibitory activity protein 3)
[MIA2 CTAGE5 MEA11 MEA6 MGEA11 MGEA6] Melanoma inhibitory activity protein 2 (MIA protein 2) (CTAGE family member 5 ER export factor) (Cutaneous T-cell lymphoma-associated antigen 5) (Meningioma-expressed antigen 6/11)
[YIPF5 FINGER5 YIP1A PP12723 SB140 UNQ3123/PRO10275] Protein YIPF5 (Five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5) (Smooth muscle cell-associated protein 5) (SMAP-5) (YIP1 family member 5) (YPT-interacting protein 1 A)
[SEC24B] Protein transport protein Sec24B (SEC24-related protein B)
[HTT HD IT15] Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment]
[CPSF7] Cleavage and polyadenylation specificity factor subunit 7 (Cleavage and polyadenylation specificity factor 59 kDa subunit) (CPSF 59 kDa subunit) (Cleavage factor Im complex 59 kDa subunit) (CFIm59) (Pre-mRNA cleavage factor Im 59 kDa subunit)
[MIA3] Transport and Golgi organization protein 1 homolog (TANGO1)
[SEC24A] Protein transport protein Sec24A (SEC24-related protein A)
[SYNE4 C19orf46] Nesprin-4 (KASH domain-containing protein 4) (KASH4) (Nuclear envelope spectrin repeat protein 4)
[SNRPC] U1 small nuclear ribonucleoprotein C (U1 snRNP C) (U1-C) (U1C)
[Yipf5 Yip1a] Protein YIPF5 (YIP1 family member 5) (YPT-interacting protein 1 A)
[SEC24 ANU1 YIL109C] Protein transport protein SEC24 (Abnormal nuclear morphology 1)
[SEC13 ANU3 YLR208W L8167.4] Protein transport protein SEC13
[SAR1 YPL218W] Small COPII coat GTPase SAR1 (EC 3.6.5.-) (GTP-binding protein SAR1) (Secretion-associated RAS-related protein 1)
[Sec24a] Protein transport protein Sec24A (SEC24-related protein A)
[sec23-1 B12K8.030 NCU01318] Protein transport protein sec23
[SEC22B SEC22L1] Vesicle-trafficking protein SEC22b (ER-Golgi SNARE of 24 kDa) (ERS-24) (ERS24) (SEC22 vesicle-trafficking protein homolog B) (SEC22 vesicle-trafficking protein-like 1)
[Sec22b Sec22l1] Vesicle-trafficking protein SEC22b (ER-Golgi SNARE of 24 kDa) (ERS-24) (ERS24) (SEC22 vesicle-trafficking protein homolog B) (SEC22 vesicle-trafficking protein-like 1) (mSec22b)
[Sec22b Sec22l1] Vesicle-trafficking protein SEC22b (ER-Golgi SNARE of 24 kDa) (ERS-24) (ERS24) (SEC22 vesicle-trafficking protein homolog B) (SEC22 vesicle-trafficking protein-like 1)
[Yipf5 Yip1a] Protein YIPF5 (YIP1 family member 5) (YPT-interacting protein 1 A)
[orf1ab] 3C-like proteinase (EC 2.7.7.48) (EC 3.4.19.12) (EC 3.6.4.12) (EC 3.6.4.13) (Exoribonuclease) (Growth factor-like peptide) (Helicase) (M-PRO) (NendoU) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (ORF1ab polyprotein) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (Putative 2'-O-methyl transferase) (RNA-directed RNA polymerase) (Replicase polyprotein 1ab) (Uridylate-specific endoribonuclease) (nsp12) (nsp13) (nsp14) (nsp15) (nsp16) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[orf1ab] 3C-like proteinase (EC 3.4.19.12) (Growth factor-like peptide) (M-PRO) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[orf1ab] 3C-like proteinase (EC 2.7.7.48) (EC 3.4.19.12) (EC 3.6.4.12) (EC 3.6.4.13) (Exoribonuclease) (Growth factor-like peptide) (Helicase) (M-PRO) (NendoU) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (ORF1ab polyprotein) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (Putative 2'-O-methyl transferase) (RNA-directed RNA polymerase) (Replicase polyprotein 1ab) (Uridylate-specific endoribonuclease) (nsp12) (nsp13) (nsp14) (nsp15) (nsp16) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[orf1ab] 3C-like proteinase (EC 2.7.7.48) (EC 3.4.19.12) (EC 3.6.4.12) (EC 3.6.4.13) (Exoribonuclease) (Growth factor-like peptide) (Helicase) (M-PRO) (NendoU) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (ORF1ab polyprotein) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (Putative 2'-O-methyl transferase) (RNA-directed RNA polymerase) (Replicase polyprotein 1ab) (Uridylate-specific endoribonuclease) (nsp12) (nsp13) (nsp14) (nsp15) (nsp16) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[gag-pol] Gag-Pol polyprotein (Pr180gag-pol) [Cleaved into: Matrix protein p15 (MA); RNA-binding phosphoprotein p12 (pp12); Capsid protein p30 (CA); Nucleocapsid protein p10 (NC-pol); Protease p14 (PR) (EC 3.4.23.-); Reverse transcriptase/ribonuclease H p80 (RT) (EC 2.7.7.49) (EC 2.7.7.7) (EC 3.1.26.4); Integrase p46 (IN) (EC 2.7.7.-) (EC 3.1.-.-)]
[orf1ab] 3C-like proteinase (EC 3.4.19.12) (Growth factor-like peptide) (M-PRO) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[orf1ab] 3C-like proteinase (EC 3.4.19.12) (Growth factor-like peptide) (M-PRO) (Non-structural protein 1) (Non-structural protein 10) (Non-structural protein 2) (Non-structural protein 3) (Non-structural protein 4) (Non-structural protein 6) (Non-structural protein 7) (Non-structural protein 8) (Non-structural protein 9) (PL1-PRO/PL2-PRO) (PLP1/PLP2) (Papain-like proteinases 1/2) (Peptide HD2) (nsp5) (p12) (p195) (p23) (p34) (p5) (p87) (p9)
[XK XKR1 XRG1] Membrane transport protein XK (Kell complex 37 kDa component) (Kx antigen) (XK-related protein 1)

Bibliography :