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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 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).By similarity

GO - Molecular functioni

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: InterPro
  • intracellular protein transport Source: InterPro
  • vesicle-mediated transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101310-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein transport protein Sec23B
Alternative name(s):
SEC23-related protein B
Gene namesi
Name:SEC23B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:10702. SEC23B.

Subcellular locationi

GO - Cellular componenti

  • COPII vesicle coat Source: InterPro
  • endomembrane system Source: MGI
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB-SubCell
  • intracellular membrane-bounded organelle Source: HPA
  • membrane Source: ProtInc
  • perinuclear region of cytoplasm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, 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 rs36023150dbSNPEnsembl.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 rs752366963dbSNPEnsembl.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 rs121918222dbSNPEnsembl.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 rs121918221dbSNPEnsembl.1
Natural variantiVAR_062300348D → A in CDAN2. 1 Publication1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant rs727504145dbSNPEnsembl.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant rs121918223dbSNPEnsembl.1
Natural variantiVAR_062308603S → L in CDAN2. 1 Publication1
Natural variantiVAR_062309701R → C in CDAN2. 1 PublicationCorresponds to variant rs201270568dbSNPEnsembl.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

Gene expression databases

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

Organism-specific databases

HPAiHPA008216.

Interactioni

Subunit structurei

COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1. Interacts with SAR1A (PubMed:26522472).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CPSF7Q8N6843EBI-742673,EBI-746909
DTX2Q4ZH493EBI-742673,EBI-10192429
DTX2Q86UW93EBI-742673,EBI-740376
FATE1Q969F03EBI-742673,EBI-743099
HOXA3O433654EBI-742673,EBI-8643838
PRRC1Q96M273EBI-742673,EBI-2560879
SEC24DO948555EBI-742673,EBI-748817
SYNE4Q8N2053EBI-742673,EBI-7131783

Protein-protein interaction databases

BioGridi115746. 53 interactors.
IntActiQ15437. 29 interactors.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

Structurei

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.20.10. 1 hit.
3.40.50.410. 1 hit.
InterProiIPR029006. 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.
[Graphical view]
PfamiPF00626. Gelsolin. 1 hit.
PF08033. Sec23_BS. 1 hit.
PF04815. Sec23_helical. 1 hit.
PF04811. Sec23_trunk. 1 hit.
PF04810. zf-Sec23_Sec24. 1 hit.
[Graphical view]
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 rs121918222dbSNPEnsembl.1
Natural variantiVAR_06229518R → H.1 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 rs121918221dbSNPEnsembl.1
Natural variantiVAR_076424164V → L in CWS7; unknown pathological significance. 1 PublicationCorresponds to variant rs36023150dbSNPEnsembl.1
Natural variantiVAR_062297239D → G The mutant protein is expressed as the wild-type. 1 PublicationCorresponds to variant rs761034212dbSNPEnsembl.1
Natural variantiVAR_062298313R → H.1 Publication1
Natural variantiVAR_062299318I → T.1 Publication1
Natural variantiVAR_062300348D → A in CDAN2. 1 Publication1
Natural variantiVAR_062301373M → V.1 PublicationCorresponds to variant rs17849992dbSNPEnsembl.1
Natural variantiVAR_062302386Q → R.1 Publication1
Natural variantiVAR_062303426V → I.1 PublicationCorresponds to variant rs41309927dbSNPEnsembl.1
Natural variantiVAR_034482433P → L.1 PublicationCorresponds to variant rs17807673dbSNPEnsembl.1
Natural variantiVAR_062304462Y → C.1 PublicationCorresponds to variant rs780978419dbSNPEnsembl.1
Natural variantiVAR_020318489H → Q.2 PublicationsCorresponds to variant rs2273526dbSNPEnsembl.1
Natural variantiVAR_062305497R → C in CDAN2; unknown pathological significance. 2 PublicationsCorresponds to variant rs727504145dbSNPEnsembl.1
Natural variantiVAR_062306524A → V.1 PublicationCorresponds to variant rs398124225dbSNPEnsembl.1
Natural variantiVAR_062307530R → W in CDAN2. 1 PublicationCorresponds to variant rs121918223dbSNPEnsembl.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 rs752366963dbSNPEnsembl.1
Natural variantiVAR_062308603S → L in CDAN2. 1 Publication1
Natural variantiVAR_062309701R → C in CDAN2. 1 PublicationCorresponds to variant rs201270568dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

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

Protein-protein interaction databases

BioGridi115746. 53 interactors.
IntActiQ15437. 29 interactors.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

PTM databases

iPTMnetiQ15437.
PhosphoSitePlusiQ15437.

Polymorphism and mutation databases

BioMutaiSEC23B.
DMDMi20141794.

Proteomic databases

EPDiQ15437.
MaxQBiQ15437.
PaxDbiQ15437.
PeptideAtlasiQ15437.
PRIDEiQ15437.

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.
GeneCardsiSEC23B.
HGNCiHGNC:10702. SEC23B.
HPAiHPA008216.
MalaCardsiSEC23B.
MIMi224100. phenotype.
610512. gene.
616858. phenotype.
neXtProtiNX_Q15437.
OpenTargetsiENSG00000101310.
Orphaneti98873. Congenital dyserythropoietic anemia type II.
PharmGKBiPA35625.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101310-MONOMER.

Miscellaneous databases

ChiTaRSiSEC23B. human.
GeneWikiiSEC23B.
GenomeRNAii10483.
PROiQ15437.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di3.40.20.10. 1 hit.
3.40.50.410. 1 hit.
InterProiIPR029006. 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.
[Graphical view]
PfamiPF00626. Gelsolin. 1 hit.
PF08033. Sec23_BS. 1 hit.
PF04815. Sec23_helical. 1 hit.
PF04811. Sec23_trunk. 1 hit.
PF04810. zf-Sec23_Sec24. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2002
Last modified: November 30, 2016
This is version 152 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.