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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

  1. zinc ion binding Source: InterPro

GO - Biological processi

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

Keywords - Biological processi

ER-Golgi transport, Protein transport, Transport

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:10702. SEC23B.

Subcellular locationi

GO - Cellular componenti

  1. COPII vesicle coat Source: InterPro
  2. endomembrane system Source: MGI
  3. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
  4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  5. Golgi membrane Source: UniProtKB-SubCell
  6. intracellular membrane-bounded organelle Source: HPA
  7. membrane Source: ProtInc
  8. perinuclear region of cytoplasm Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Anemia, congenital dyserythropoietic, 22 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 Publications
VAR_062294
Natural varianti109 – 1091E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 Publications
VAR_062296
Natural varianti348 – 3481D → A in CDAN2. 1 Publication
VAR_062300
Natural varianti497 – 4971R → C in CDAN2; unknown pathological significance. 2 Publications
VAR_062305
Natural varianti530 – 5301R → W in CDAN2. 1 Publication
VAR_062307
Natural varianti603 – 6031S → L in CDAN2. 1 Publication
VAR_062308
Natural varianti701 – 7011R → C in CDAN2. 1 Publication
Corresponds to variant rs201270568 [ dbSNP | Ensembl ].
VAR_062309

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

MIMi224100. phenotype.
Orphaneti98873. Congenital dyserythropoietic anemia type II.
PharmGKBiPA35625.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 767766Protein transport protein Sec23BPRO_0000205148Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications
Modified residuei564 – 5641N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ15437.
PaxDbiQ15437.
PeptideAtlasiQ15437.
PRIDEiQ15437.

PTM databases

PhosphoSiteiQ15437.

Expressioni

Gene expression databases

BgeeiQ15437.
CleanExiHS_SEC23B.
ExpressionAtlasiQ15437. baseline and differential.
GenevestigatoriQ15437.

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.By similarity

Protein-protein interaction databases

BioGridi115746. 35 interactions.
IntActiQ15437. 12 interactions.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

Structurei

3D structure databases

ProteinModelPortaliQ15437.
SMRiQ15437. Positions 3-764.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG5047.
GeneTreeiENSGT00390000006916.
HOVERGENiHBG055039.
InParanoidiQ15437.
KOiK14006.
OMAiNGEFRMA.
OrthoDBiEOG72C4ZP.
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.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141R → W in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 Publications
VAR_062294
Natural varianti18 – 181R → H.1 Publication
VAR_062295
Natural varianti109 – 1091E → K in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. 2 Publications
VAR_062296
Natural varianti239 – 2391D → G The mutant protein is expressed as the wild-type. 1 Publication
VAR_062297
Natural varianti313 – 3131R → H.1 Publication
VAR_062298
Natural varianti318 – 3181I → T.1 Publication
VAR_062299
Natural varianti348 – 3481D → A in CDAN2. 1 Publication
VAR_062300
Natural varianti373 – 3731M → V.1 Publication
Corresponds to variant rs17849992 [ dbSNP | Ensembl ].
VAR_062301
Natural varianti386 – 3861Q → R.1 Publication
VAR_062302
Natural varianti426 – 4261V → I.1 Publication
Corresponds to variant rs41309927 [ dbSNP | Ensembl ].
VAR_062303
Natural varianti433 – 4331P → L.1 Publication
Corresponds to variant rs17807673 [ dbSNP | Ensembl ].
VAR_034482
Natural varianti462 – 4621Y → C.1 Publication
VAR_062304
Natural varianti489 – 4891H → Q.2 Publications
Corresponds to variant rs2273526 [ dbSNP | Ensembl ].
VAR_020318
Natural varianti497 – 4971R → C in CDAN2; unknown pathological significance. 2 Publications
VAR_062305
Natural varianti524 – 5241A → V.1 Publication
VAR_062306
Natural varianti530 – 5301R → W in CDAN2. 1 Publication
VAR_062307
Natural varianti603 – 6031S → L in CDAN2. 1 Publication
VAR_062308
Natural varianti701 – 7011R → C in CDAN2. 1 Publication
Corresponds to variant rs201270568 [ dbSNP | Ensembl ].
VAR_062309

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.
UniGeneiHs.369373.

Genome annotation databases

EnsembliENST00000262544; ENSP00000262544; ENSG00000101310.
ENST00000336714; ENSP00000338844; ENSG00000101310.
ENST00000377465; ENSP00000366685; ENSG00000101310.
ENST00000377475; ENSP00000366695; ENSG00000101310.
GeneIDi10483.
KEGGihsa:10483.
UCSCiuc002wqz.2. human.

Polymorphism databases

DMDMi20141794.

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.
UniGeneiHs.369373.

3D structure databases

ProteinModelPortaliQ15437.
SMRiQ15437. Positions 3-764.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115746. 35 interactions.
IntActiQ15437. 12 interactions.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

PTM databases

PhosphoSiteiQ15437.

Polymorphism databases

DMDMi20141794.

Proteomic databases

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.2. human.

Organism-specific databases

CTDi10483.
GeneCardsiGC20P018488.
HGNCiHGNC:10702. SEC23B.
HPAiHPA008216.
MIMi224100. phenotype.
610512. gene.
neXtProtiNX_Q15437.
Orphaneti98873. Congenital dyserythropoietic anemia type II.
PharmGKBiPA35625.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5047.
GeneTreeiENSGT00390000006916.
HOVERGENiHBG055039.
InParanoidiQ15437.
KOiK14006.
OMAiNGEFRMA.
OrthoDBiEOG72C4ZP.
PhylomeDBiQ15437.
TreeFamiTF300693.

Miscellaneous databases

ChiTaRSiSEC23B. human.
GeneWikiiSEC23B.
GenomeRNAii10483.
NextBioi39772.
PROiQ15437.
SOURCEiSearch...

Gene expression databases

BgeeiQ15437.
CleanExiHS_SEC23B.
ExpressionAtlasiQ15437. baseline and differential.
GenevestigatoriQ15437.

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.
SSF82919. SSF82919. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional characterization of mammalian homologues of the COPII component Sec23."
    Paccaud J.-P., Reith W., Carpentier J.-L., Ravazzola M., Amherdt M., Schekman R., Orci L.
    Mol. Biol. Cell 7:1535-1546(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-489.
    Tissue: B-cell.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    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.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-373 AND LEU-433.
    Tissue: Cervix, Placenta and Uterus.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene."
    Bianchi P., Fermo E., Vercellati C., Boschetti C., Barcellini W., Iurlo A., Marcello A.P., Righetti P.G., Zanella A.
    Hum. Mutat. 30:1292-1298(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDAN2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701, VARIANT GLN-489.
  9. Cited for: 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, CHARACTERIZATION OF VARIANT GLY-239.

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: February 4, 2015
This is version 134 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

External Data

Dasty 3

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 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.