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Protein

Protein transport protein Sec23B

Gene

SEC23B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi61ZincBy similarity1
Metal bindingi66ZincBy similarity1
Metal bindingi85ZincBy similarity1
Metal bindingi88ZincBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein transport protein Sec23BCurated
Short name:
hSec23B1 Publication
Alternative name(s):
SEC23-related protein B
Gene namesi
Name:SEC23BImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101310.14.
HGNCiHGNC:10702. SEC23B.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Cowden syndrome 7 (CWS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616858
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076424164V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36023150Ensembl.1
Natural variantiVAR_076425594V → 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. 1 PublicationCorresponds to variant dbSNP:rs752366963Ensembl.1
Anemia, congenital dyserythropoietic, 2 (CDAN2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:224100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06229414R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918222Ensembl.1
Natural variantiVAR_062296109E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918221Ensembl.1
Natural variantiVAR_062300348D → A in CDAN2. 1 Publication1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145Ensembl.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223Ensembl.1
Natural variantiVAR_062308603S → L in CDAN2. 1 Publication1
Natural variantiVAR_062309701R → C in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs201270568Ensembl.1

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi10483.
MalaCardsiSEC23B.
MIMi224100. phenotype.
616858. phenotype.
OpenTargetsiENSG00000101310.
Orphaneti98873. Congenital dyserythropoietic anemia type II.
PharmGKBiPA35625.

Polymorphism and mutation databases

BioMutaiSEC23B.
DMDMi20141794.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002051482 – 767Protein transport protein Sec23BAdd BLAST766

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei564N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ15437.
MaxQBiQ15437.
PaxDbiQ15437.
PeptideAtlasiQ15437.
PRIDEiQ15437.

PTM databases

iPTMnetiQ15437.
PhosphoSitePlusiQ15437.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000101310.
CleanExiHS_SEC23B.
ExpressionAtlasiQ15437. baseline and differential.
GenevisibleiQ15437. HS.

Organism-specific databases

HPAiHPA008216.
HPA069974.

Interactioni

Subunit structurei

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).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115746. 59 interactors.
IntActiQ15437. 35 interactors.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

Structurei

3D structure databases

ProteinModelPortaliQ15437.
SMRiQ15437.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati634 – 720Gelsolin-likeSequence analysisAdd BLAST87

Sequence similaritiesi

Belongs to the SEC23/SEC24 family. SEC23 subfamily.Curated

Phylogenomic databases

eggNOGiKOG1986. Eukaryota.
COG5047. LUCA.
GeneTreeiENSGT00390000006916.
HOVERGENiHBG055039.
InParanoidiQ15437.
KOiK14006.
OMAiPQEHPFV.
OrthoDBiEOG091G063R.
PhylomeDBiQ15437.
TreeFamiTF300693.

Family and domain databases

Gene3Di3.40.20.10. 1 hit.
3.40.50.410. 1 hit.
InterProiView protein in InterPro
IPR029006. ADF-H/Gelsolin-like_dom.
IPR007123. Gelsolin-like_dom.
IPR006900. Sec23/24_helical_dom.
IPR006896. Sec23/24_trunk_dom.
IPR012990. Sec23_24_beta_S.
IPR002035. VWF_A.
IPR006895. Znf_Sec23_Sec24.
PfamiView protein in Pfam
PF00626. Gelsolin. 1 hit.
PF08033. Sec23_BS. 1 hit.
PF04815. Sec23_helical. 1 hit.
PF04811. Sec23_trunk. 1 hit.
PF04810. zf-Sec23_Sec24. 1 hit.
SUPFAMiSSF53300. SSF53300. 1 hit.
SSF81811. SSF81811. 1 hit.
SSF82754. SSF82754. 1 hit.
SSF82919. SSF82919. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15437-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD
60 70 80 90 100
LPPVQYEPVL CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG
110 120 130 140 150
ISEVNQPAEL MPQFSTIEYV IQRGAQSPLI FLYVVDTCLE EDDLQALKES
160 170 180 190 200
LQMSLSLLPP DALVGLITFG RMVQVHELSC EGISKSYVFR GTKDLTAKQI
210 220 230 240 250
QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM NLTDLLGELQ
260 270 280 290 300
RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP
310 320 330 340 350
GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY
360 370 380 390 400
ACALDQTGLL EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF
410 420 430 440 450
RMAFGATLDV KTSRELKIAG AIGPCVSLNV KGPCVSENEL GVGGTSQWKI
460 470 480 490 500
CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA IQFVTHYQHS STQRRIRVTT
510 520 530 540 550
IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE GPDVLRWLDR
560 570 580 590 600
QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD
610 620 630 640 650
ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL
660 670 680 690 700
LMDTFFQIVI YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA
710 720 730 740 750
RFPMPRYINT EHGGSQARFL LSKVNPSQTH NNLYAWGQET GAPILTDDVS
760
LQVFMDHLKK LAVSSAC
Length:767
Mass (Da):86,479
Last modified:January 23, 2002 - v2
Checksum:i1A00DE39D56B0204
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06229414R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918222Ensembl.1
Natural variantiVAR_06229518R → H1 Publication1
Natural variantiVAR_062296109E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs121918221Ensembl.1
Natural variantiVAR_076424164V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36023150Ensembl.1
Natural variantiVAR_062297239D → G The mutant protein is expressed as the wild-type. 1 PublicationCorresponds to variant dbSNP:rs761034212Ensembl.1
Natural variantiVAR_062298313R → H1 Publication1
Natural variantiVAR_062299318I → T1 Publication1
Natural variantiVAR_062300348D → A in CDAN2. 1 Publication1
Natural variantiVAR_062301373M → V1 PublicationCorresponds to variant dbSNP:rs17849992Ensembl.1
Natural variantiVAR_062302386Q → R1 Publication1
Natural variantiVAR_062303426V → I1 PublicationCorresponds to variant dbSNP:rs41309927Ensembl.1
Natural variantiVAR_034482433P → L1 PublicationCorresponds to variant dbSNP:rs17807673Ensembl.1
Natural variantiVAR_062304462Y → C1 PublicationCorresponds to variant dbSNP:rs780978419Ensembl.1
Natural variantiVAR_020318489H → Q2 PublicationsCorresponds to variant dbSNP:rs2273526Ensembl.1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145Ensembl.1
Natural variantiVAR_062306524A → V1 PublicationCorresponds to variant dbSNP:rs398124225Ensembl.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223Ensembl.1
Natural variantiVAR_076425594V → 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. 1 PublicationCorresponds to variant dbSNP:rs752366963Ensembl.1
Natural variantiVAR_062308603S → L in CDAN2. 1 Publication1
Natural variantiVAR_062309701R → C in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs201270568Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97065 mRNA. Translation: CAA65775.1.
AL121893, AL121900 Genomic DNA. Translation: CAI12512.1.
AL121900, AL121893 Genomic DNA. Translation: CAH73149.1.
CH471133 Genomic DNA. Translation: EAX10231.1.
CH471133 Genomic DNA. Translation: EAX10232.1.
CH471133 Genomic DNA. Translation: EAX10233.1.
CH471133 Genomic DNA. Translation: EAX10234.1.
CH471133 Genomic DNA. Translation: EAX10235.1.
BC005032 mRNA. Translation: AAH05032.1.
BC005404 mRNA. Translation: AAH05404.1.
BC095404 mRNA. Translation: AAH95404.1.
CCDSiCCDS13137.1.
RefSeqiNP_001166216.1. NM_001172745.1.
NP_001166217.1. NM_001172746.1.
NP_006354.2. NM_006363.4.
NP_116780.1. NM_032985.4.
NP_116781.1. NM_032986.3.
XP_016883082.1. XM_017027593.1.
UniGeneiHs.369373.

Genome annotation databases

EnsembliENST00000262544; ENSP00000262544; ENSG00000101310.
ENST00000336714; ENSP00000338844; ENSG00000101310.
ENST00000377465; ENSP00000366685; ENSG00000101310.
ENST00000377475; ENSP00000366695; ENSG00000101310.
GeneIDi10483.
KEGGihsa:10483.
UCSCiuc002wqz.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSC23B_HUMAN
AccessioniPrimary (citable) accession number: Q15437
Secondary accession number(s): D3DW33
, Q503A9, Q5W183, Q9BS15, Q9BSI2, Q9H1D7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2002
Last modified: September 27, 2017
This is version 157 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families