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Q15437

- SC23B_HUMAN

UniProt

Q15437 - SC23B_HUMAN

Protein

Protein transport protein Sec23B

Gene

SEC23B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    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

    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: October 1, 2014
    This is version 131 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