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Q15437

- SC23B_HUMAN

UniProt

Q15437 - SC23B_HUMAN

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Protein
Protein transport protein Sec23B
Gene
SEC23B
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

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. Golgi membrane Source: UniProtKB-SubCell
  3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  4. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
  5. intracellular membrane-bounded organelle Source: HPA
  6. membrane Source: ProtInc
  7. 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, 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 – 11Removed1 Publication
Chaini2 – 767766Protein transport protein Sec23B
PRO_0000205148Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ15437.
PaxDbiQ15437.
PeptideAtlasiQ15437.
PRIDEiQ15437.

PTM databases

PhosphoSiteiQ15437.

Expressioni

Gene expression databases

ArrayExpressiQ15437.
BgeeiQ15437.
CleanExiHS_SEC23B.
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. 25 interactions.
IntActiQ15437. 12 interactions.
MINTiMINT-3031478.
STRINGi9606.ENSP00000262544.

Structurei

3D structure databases

ProteinModelPortaliQ15437.
SMRiQ15437. Positions 3-764.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5047.
HOVERGENiHBG055039.
InParanoidiQ15437.
KOiK14006.
OMAiETIAQWQ.
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

MATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD    50
LPPVQYEPVL CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG 100
ISEVNQPAEL MPQFSTIEYV IQRGAQSPLI FLYVVDTCLE EDDLQALKES 150
LQMSLSLLPP DALVGLITFG RMVQVHELSC EGISKSYVFR GTKDLTAKQI 200
QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM NLTDLLGELQ 250
RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP 300
GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY 350
ACALDQTGLL EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF 400
RMAFGATLDV KTSRELKIAG AIGPCVSLNV KGPCVSENEL GVGGTSQWKI 450
CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA IQFVTHYQHS STQRRIRVTT 500
IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE GPDVLRWLDR 550
QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD 600
ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL 650
LMDTFFQIVI YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA 700
RFPMPRYINT EHGGSQARFL LSKVNPSQTH NNLYAWGQET GAPILTDDVS 750
LQVFMDHLKK LAVSSAC 767
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13137.1.
RefSeqi NP_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.
UniGenei Hs.369373.

3D structure databases

ProteinModelPortali Q15437.
SMRi Q15437. Positions 3-764.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115746. 25 interactions.
IntActi Q15437. 12 interactions.
MINTi MINT-3031478.
STRINGi 9606.ENSP00000262544.

PTM databases

PhosphoSitei Q15437.

Polymorphism databases

DMDMi 20141794.

Proteomic databases

MaxQBi Q15437.
PaxDbi Q15437.
PeptideAtlasi Q15437.
PRIDEi Q15437.

Protocols and materials databases

DNASUi 10483.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262544 ; ENSP00000262544 ; ENSG00000101310 .
ENST00000336714 ; ENSP00000338844 ; ENSG00000101310 .
ENST00000377465 ; ENSP00000366685 ; ENSG00000101310 .
ENST00000377475 ; ENSP00000366695 ; ENSG00000101310 .
GeneIDi 10483.
KEGGi hsa:10483.
UCSCi uc002wqz.2. human.

Organism-specific databases

CTDi 10483.
GeneCardsi GC20P018488.
HGNCi HGNC:10702. SEC23B.
HPAi HPA008216.
MIMi 224100. phenotype.
610512. gene.
neXtProti NX_Q15437.
Orphaneti 98873. Congenital dyserythropoietic anemia type II.
PharmGKBi PA35625.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5047.
HOVERGENi HBG055039.
InParanoidi Q15437.
KOi K14006.
OMAi ETIAQWQ.
OrthoDBi EOG72C4ZP.
PhylomeDBi Q15437.
TreeFami TF300693.

Miscellaneous databases

ChiTaRSi SEC23B. human.
GeneWikii SEC23B.
GenomeRNAii 10483.
NextBioi 39772.
PROi Q15437.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q15437.
Bgeei Q15437.
CleanExi HS_SEC23B.
Genevestigatori Q15437.

Family and domain databases

Gene3Di 3.40.20.10. 1 hit.
3.40.50.410. 1 hit.
InterProi 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.
[Graphical view ]
Pfami 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.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 1 hit.
SSF81811. SSF81811. 1 hit.
SSF82919. SSF82919. 1 hit.
ProtoNeti Search...

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: July 9, 2014
This is version 130 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

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