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Protein

Protein transport protein Sec23B

Gene

SEC23B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • GTPase activator activity Source: GO_Central
  • zinc ion binding Source: GO_Central

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
MIMi610512 gene
neXtProtiNX_Q15437

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:rs36023150EnsemblClinVar.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:rs752366963EnsemblClinVar.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:rs121918222EnsemblClinVar.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:rs121918221EnsemblClinVar.1
Natural variantiVAR_062300348D → A in CDAN2. 1 Publication1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145EnsemblClinVar.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223EnsemblClinVar.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
201 Cowden syndrome
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
ProteomicsDBi60596

PTM databases

iPTMnetiQ15437
PhosphoSitePlusiQ15437

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000101310 Expressed in 225 organ(s), highest expression level in adrenal gland
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

Protein-protein interaction databases

BioGridi115746, 69 interactors
IntActiQ15437, 33 interactors
MINTiQ15437
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
OMAiQFPPAYT
OrthoDBiEOG091G063R
PhylomeDBiQ15437
TreeFamiTF300693

Family and domain databases

CDDicd11287 Sec23_C, 1 hit
Gene3Di3.40.20.10, 1 hit
3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR007123 Gelsolin-like_dom
IPR036180 Gelsolin-like_dom_sf
IPR037364 Sec23
IPR006900 Sec23/24_helical_dom
IPR036175 Sec23/24_helical_dom_sf
IPR006896 Sec23/24_trunk_dom
IPR012990 Sec23_24_beta_S
IPR037550 Sec23_C
IPR036465 vWFA_dom_sf
IPR006895 Znf_Sec23_Sec24
IPR036174 Znf_Sec23_Sec24_sf
PANTHERiPTHR11141 PTHR11141, 1 hit
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

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YFH5A0A2R8YFH5_HUMAN
Protein transport protein SEC23
SEC23B
749Annotation score:
Q5QPE2Q5QPE2_HUMAN
Protein transport protein SEC23
SEC23B
331Annotation score:
Q5QPE1Q5QPE1_HUMAN
Protein transport protein SEC23
SEC23B
246Annotation score:
A0A2R8Y633A0A2R8Y633_HUMAN
Protein transport protein SEC23
SEC23B
52Annotation score:
A0A2R8YF30A0A2R8YF30_HUMAN
Protein transport protein SEC23
SEC23B
32Annotation score:
A0A2R8Y7S7A0A2R8Y7S7_HUMAN
Protein transport protein SEC23
SEC23B
59Annotation score:

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:rs121918222EnsemblClinVar.1
Natural variantiVAR_06229518R → H1 PublicationCorresponds to variant dbSNP:rs905074313Ensembl.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:rs121918221EnsemblClinVar.1
Natural variantiVAR_076424164V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36023150EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs953079477Ensembl.1
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:rs41309927EnsemblClinVar.1
Natural variantiVAR_034482433P → L1 PublicationCorresponds to variant dbSNP:rs17807673EnsemblClinVar.1
Natural variantiVAR_062304462Y → C1 PublicationCorresponds to variant dbSNP:rs780978419Ensembl.1
Natural variantiVAR_020318489H → Q2 PublicationsCorresponds to variant dbSNP:rs2273526EnsemblClinVar.1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs727504145EnsemblClinVar.1
Natural variantiVAR_062306524A → V1 PublicationCorresponds to variant dbSNP:rs398124225EnsemblClinVar.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant dbSNP:rs121918223EnsemblClinVar.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:rs752366963EnsemblClinVar.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 Genomic DNA No translation available.
AL121900 Genomic DNA No translation available.
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_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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97065 mRNA Translation: CAA65775.1
AL121893 Genomic DNA No translation available.
AL121900 Genomic DNA No translation available.
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_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

3D structure databases

ProteinModelPortaliQ15437
SMRiQ15437
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115746, 69 interactors
IntActiQ15437, 33 interactors
MINTiQ15437
STRINGi9606.ENSP00000262544

PTM databases

iPTMnetiQ15437
PhosphoSitePlusiQ15437

Polymorphism and mutation databases

BioMutaiSEC23B
DMDMi20141794

Proteomic databases

EPDiQ15437
MaxQBiQ15437
PaxDbiQ15437
PeptideAtlasiQ15437
PRIDEiQ15437
ProteomicsDBi60596

Protocols and materials databases

DNASUi10483
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10483
DisGeNETi10483
EuPathDBiHostDB:ENSG00000101310.14
GeneCardsiSEC23B
HGNCiHGNC:10702 SEC23B
HPAiHPA008216
HPA069974
MalaCardsiSEC23B
MIMi224100 phenotype
610512 gene
616858 phenotype
neXtProtiNX_Q15437
OpenTargetsiENSG00000101310
Orphaneti98873 Congenital dyserythropoietic anemia type II
201 Cowden syndrome
PharmGKBiPA35625
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1986 Eukaryota
COG5047 LUCA
GeneTreeiENSGT00390000006916
HOVERGENiHBG055039
InParanoidiQ15437
KOiK14006
OMAiQFPPAYT
OrthoDBiEOG091G063R
PhylomeDBiQ15437
TreeFamiTF300693

Miscellaneous databases

ChiTaRSiSEC23B human
GeneWikiiSEC23B
GenomeRNAii10483
PROiPR:Q15437
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101310 Expressed in 225 organ(s), highest expression level in adrenal gland
CleanExiHS_SEC23B
ExpressionAtlasiQ15437 baseline and differential
GenevisibleiQ15437 HS

Family and domain databases

CDDicd11287 Sec23_C, 1 hit
Gene3Di3.40.20.10, 1 hit
3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR007123 Gelsolin-like_dom
IPR036180 Gelsolin-like_dom_sf
IPR037364 Sec23
IPR006900 Sec23/24_helical_dom
IPR036175 Sec23/24_helical_dom_sf
IPR006896 Sec23/24_trunk_dom
IPR012990 Sec23_24_beta_S
IPR037550 Sec23_C
IPR036465 vWFA_dom_sf
IPR006895 Znf_Sec23_Sec24
IPR036174 Znf_Sec23_Sec24_sf
PANTHERiPTHR11141 PTHR11141, 1 hit
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
ProtoNetiSearch...

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: November 7, 2018
This is version 170 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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