LOCUS       NP_006354                767 aa            linear   PRI 28-APR-2025
DEFINITION  protein transport protein Sec23B isoform 1 [Homo sapiens].
ACCESSION   NP_006354
VERSION     NP_006354.2
DBSOURCE    REFSEQ: accession NM_006363.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 767)
  AUTHORS   Saptarshi,A.N., More,T.A., Dongerdiye,R. and Kedar,P.
  TITLE     Congenital Dyserythropoietic Anemia Type II: High Prevalence of
            c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
  JOURNAL   Indian J Pediatr 90 (8), 840 (2023)
   PUBMED   37204595
  REMARK    GeneRIF: Congenital Dyserythropoietic Anemia Type II: High
            Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian
            Population.
REFERENCE   2  (residues 1 to 767)
  AUTHORS   Musri,M.M., Venturi,V., Ferrer-Cortes,X., Romero-Cortadellas,L.,
            Hernandez,G., Leoz,P., Ricard Andres,M.P., Morado,M., Fernandez
            Valle,M.D.C., Beneitez Pastor,D., Ortuno Cabrero,A., Moreno
            Gamiz,M., Senent Peris,L., Perez-Valencia,A.I., Perez-Montero,S.,
            Tornador,C. and Sanchez,M.
  TITLE     New Cases and Mutations in SEC23B Gene Causing Congenital
            Dyserythropoietic Anemia Type II
  JOURNAL   Int J Mol Sci 24 (12), 9935 (2023)
   PUBMED   37373084
  REMARK    GeneRIF: New Cases and Mutations in SEC23B Gene Causing Congenital
            Dyserythropoietic Anemia Type II.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 767)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (residues 1 to 767)
  AUTHORS   Rosato,B.E., Marra,R., D'Onofrio,V., Del Giudice,F., Della
            Monica,S., Iolascon,A., Andolfo,I. and Russo,R.
  TITLE     SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing
            Glycosylation Pathway in Human Hepatic Cells
  JOURNAL   Int J Mol Sci 23 (3), 1304 (2022)
   PUBMED   35163229
  REMARK    GeneRIF: SEC23B Loss-of-Function Suppresses Hepcidin Expression by
            Impairing Glycosylation Pathway in Human Hepatic Cells.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 767)
  AUTHORS   Wei,W., Liu,Z., Zhang,C., Khoriaty,R., Zhu,M. and Zhang,B.
  TITLE     A common human missense mutation of vesicle coat protein SEC23B
            leads to growth restriction and chronic pancreatitis in mice
  JOURNAL   J Biol Chem 298 (1), 101536 (2022)
   PUBMED   34954140
  REMARK    GeneRIF: A common human missense mutation of vesicle coat protein
            SEC23B leads to growth restriction and chronic pancreatitis in
            mice.
REFERENCE   6  (residues 1 to 767)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            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., 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.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., 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., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            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,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. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   7  (residues 1 to 767)
  AUTHORS   Tang,B.L., Kausalya,J., Low,D.Y., Lock,M.L. and Hong,W.
  TITLE     A family of mammalian proteins homologous to yeast Sec24p
  JOURNAL   Biochem Biophys Res Commun 258 (3), 679-684 (1999)
   PUBMED   10329445
REFERENCE   8  (residues 1 to 767)
  AUTHORS   Pagano,A., Letourneur,F., Garcia-Estefania,D., Carpentier,J.L.,
            Orci,L. and Paccaud,J.P.
  TITLE     Sec24 proteins and sorting at the endoplasmic reticulum
  JOURNAL   J Biol Chem 274 (12), 7833-7840 (1999)
   PUBMED   10075675
REFERENCE   9  (residues 1 to 767)
  AUTHORS   Gasparini,P., Miraglia del Giudice,E., Delaunay,J., Totaro,A.,
            Granatiero,M., Melchionda,S., Zelante,L. and Iolascon,A.
  TITLE     Localization of the congenital dyserythropoietic anemia II locus to
            chromosome 20q11.2 by genomewide search
  JOURNAL   Am J Hum Genet 61 (5), 1112-1116 (1997)
   PUBMED   9345103
REFERENCE   10 (residues 1 to 767)
  AUTHORS   Paccaud,J.P., Reith,W., Carpentier,J.L., Ravazzola,M., Amherdt,M.,
            Schekman,R. and Orci,L.
  TITLE     Cloning and functional characterization of mammalian homologues of
            the COPII component Sec23
  JOURNAL   Mol Biol Cell 7 (10), 1535-1546 (1996)
   PUBMED   8898360
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X97065.1, BC001151.1,
            BC095404.1 and CA307855.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 3, 2001 this sequence version replaced NP_006354.1.
            
            Summary: The protein encoded by this gene is a member of the SEC23
            subfamily of the SEC23/SEC24 family, which is involved in vesicle
            trafficking. The encoded protein has similarity to yeast Sec23p
            component of COPII. COPII is the coat protein complex responsible
            for vesicle budding from the ER. The function of this gene product
            has been implicated in cargo selection and concentration. Multiple
            alternatively spliced transcript variants have been identified in
            this gene. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) uses an alternative splice
            site and lacks a segment in the 5' UTR, as compared to variant 2.
            Variants 1, 2, 3 and 4 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.30702.1, BC095404.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650089.1/ ENSP00000497473.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..767
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     Protein         1..767
                     /product="protein transport protein Sec23B isoform 1"
                     /note="SEC23-like protein B; SEC23 homolog B, coat complex
                     II component; SEC23-related protein B; protein transport
                     protein Sec23B; transport protein SEC23B"
                     /calculated_mol_wt=86348
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:22223895,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q15437.2)"
     Region          12..765
                     /region_name="PLN00162"
                     /note="transport protein sec23; Provisional"
                     /db_xref="CDD:215083"
     Site            564
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q9D662; propagated from
                     UniProtKB/Swiss-Prot (Q15437.2)"
     Region          634..720
                     /region_name="Gelsolin-like. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15437.2)"
     CDS             1..767
                     /gene="SEC23B"
                     /gene_synonym="CDA-II; CDAII; CDAN2; CWS7; HEMPAS;
                     hSec23B"
                     /coded_by="NM_006363.6:48..2351"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13137.1"
                     /db_xref="GeneID:10483"
                     /db_xref="HGNC:HGNC:10702"
                     /db_xref="MIM:610512"
ORIGIN      
        1 matylefiqq neerdgvrfs wnvwpssrle atrmvvplac lltplkerpd lppvqyepvl
       61 csrptckavl nplcqvdyra klwacnfcfq rnqfppaygg isevnqpael mpqfstieyv
      121 iqrgaqspli flyvvdtcle eddlqalkes lqmslsllpp dalvglitfg rmvqvhelsc
      181 egisksyvfr gtkdltakqi qdmlgltkpa mpmqqarpaq pqehpfassr flqpvhkidm
      241 nltdllgelq rdpwpvtqgk rplrstgval siavgllegt fpntgariml ftggpptqgp
      301 gmvvgdelki pirswhdiek dnarfmkkat khyemlanrt aanghcidiy acaldqtgll
      361 emkccanltg gymvmgdsfn tslfkqtfqr iftkdfngdf rmafgatldv ktsrelkiag
      421 aigpcvslnv kgpcvsenel gvggtsqwki cgldptstlg iyfevvnqhn tpipqggrga
      481 iqfvthyqhs stqrrirvtt iarnwadvqs qlrhieaafd qeaaavlmar lgvfraesee
      541 gpdvlrwldr qlirlcqkfg qynkedptsf rlsdsfslyp qfmfhlrrsp flqvfnnspd
      601 essyyrhhfa rqdltqslim iqpilysysf hgppepvlld sssiladril lmdtffqivi
      661 ylgetiaqwr kagyqdmpey enfkhllqap lddaqeilqa rfpmpryint ehggsqarfl
      721 lskvnpsqth nnlyawgqet gapiltddvs lqvfmdhlkk lavssac
//
