LOCUS       NM_014822               4018 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens SEC24 homolog D, COPII coat complex component
            (SEC24D), transcript variant 1, mRNA.
ACCESSION   NM_014822
VERSION     NM_014822.4
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  (bases 1 to 4018)
  AUTHORS   Curtis,S.W., Carlson,J.C., Beaty,T.H., Murray,J.C., Weinberg,S.M.,
            Marazita,M.L., Cotney,J.L., Cutler,D.J., Epstein,M.P. and
            Leslie,E.J.
  TITLE     Rare variant modifier analysis identifies variants in SEC24D
            associated with orofacial cleft subtypes
  JOURNAL   Hum Genet 142 (10), 1531-1541 (2023)
   PUBMED   37676273
  REMARK    GeneRIF: Rare variant modifier analysis identifies variants in
            SEC24D associated with orofacial cleft subtypes.
REFERENCE   2  (bases 1 to 4018)
  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   3  (bases 1 to 4018)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4018)
  AUTHORS   Viviano,J., Brecker,M., Ferrara-Cook,C., Suaud,L. and
            Rubenstein,R.C.
  TITLE     ERp29 as a regulator of Insulin biosynthesis
  JOURNAL   PLoS One 15 (5), e0233502 (2020)
   PUBMED   32433667
  REMARK    GeneRIF: ERp29 as a regulator of Insulin biosynthesis.
            Erratum:[PLoS One. 2020 Aug 21;15(8):e0238264. doi:
            10.1371/journal.pone.0238264.. PMID: 32822440]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4018)
  AUTHORS   Garbes,L., Kim,K., Riess,A., Hoyer-Kuhn,H., Beleggia,F., Bevot,A.,
            Kim,M.J., Huh,Y.H., Kweon,H.S., Savarirayan,R., Amor,D.,
            Kakadia,P.M., Lindig,T., Kagan,K.O., Becker,J., Boyadjiev,S.A.,
            Wollnik,B., Semler,O., Bohlander,S.K., Kim,J. and Netzer,C.
  TITLE     Mutations in SEC24D, encoding a component of the COPII machinery,
            cause a syndromic form of osteogenesis imperfecta
  JOURNAL   Am J Hum Genet 96 (3), 432-439 (2015)
   PUBMED   25683121
  REMARK    GeneRIF: three mutant SEC24D alleles in a rare
            autosomal-recessively inherited skeletal disorder characterized by
            pre- and postnatal bone fragility, skull ossification defects,
            craniofacial dysmorphism, and short stature
REFERENCE   6  (bases 1 to 4018)
  AUTHORS   Farhan,H., Reiterer,V., Korkhov,V.M., Schmid,J.A., Freissmuth,M.
            and Sitte,H.H.
  TITLE     Concentrative export from the endoplasmic reticulum of the
            gamma-aminobutyric acid transporter 1 requires binding to SEC24D
  JOURNAL   J Biol Chem 282 (10), 7679-7689 (2007)
   PUBMED   17210573
  REMARK    GeneRIF: concentrative endoplasmic reticulum-export is contingent
            on a direct interaction of GAT1 with Sec24D.
REFERENCE   7  (bases 1 to 4018)
  AUTHORS   Kirchhausen,T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   8  (bases 1 to 4018)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   9  (bases 1 to 4018)
  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   10 (bases 1 to 4018)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB224337.1, AK291765.1,
            AB018298.1 and BC035761.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014822.3.
            
            Summary: The protein encoded by this gene is a member of the SEC24
            subfamily of the SEC23/SEC24 family, which is involved in vesicle
            trafficking. The encoded protein has similarity to yeast Sec24p
            component of COPII. COPII is the coat protein complex responsible
            for vesicle budding from the ER. This gene product is implicated in
            the shaping of the vesicle, and also in cargo selection and
            concentration. Mutations in this gene have been associated with
            Cole-Carpenter syndrome, a disorder affecting bone formation,
            resulting in craniofacial malformations and bones that break
            easily. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter 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 :: SRR1660809.223104.1,
                                           SRR1660803.187953.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280551.11/ ENSP00000280551.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-494               DB224337.1         46-539
            495-2717            AK291765.1         465-2687
            2718-3773           AB018298.1         2691-3746
            3774-4018           BC035761.1         3769-4013
FEATURES             Location/Qualifiers
     source          1..4018
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q26"
     gene            1..4018
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /note="SEC24 homolog D, COPII coat complex component"
                     /db_xref="GeneID:9871"
                     /db_xref="HGNC:HGNC:10706"
                     /db_xref="MIM:607186"
     exon            1..186
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            187..345
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..3326
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein transport protein Sec24D; SEC24-related protein D;
                     SEC24 related gene family, member D"
                     /codon_start=1
                     /product="protein transport protein Sec24D isoform 1"
                     /protein_id="NP_055637.2"
                     /db_xref="CCDS:CCDS3710.1"
                     /db_xref="GeneID:9871"
                     /db_xref="HGNC:HGNC:10706"
                     /db_xref="MIM:607186"
                     /translation="MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKP
                     AGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQP
                     SAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQ
                     PSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGA
                     GYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRA
                     SRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLA
                     AVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVN
                     DVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSY
                     SNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQM
                     MVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGME
                     ALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKD
                     CVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIE
                     KKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSED
                     SGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVL
                     HQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLL
                     SRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLS
                     EEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRM
                     IMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQL
                     LN"
     exon            346..475
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            476..624
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            625..900
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1028
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1140
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1268
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1407
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1523
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..1648
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1840
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..1934
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2051
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2052..2222
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2319
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2320..2465
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2466..2604
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2723
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2724..2903
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2904..3095
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3096..3185
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3186..4018
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3995..4000
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /note="hexamer: AATAAA"
     polyA_site      4018
                     /gene="SEC24D"
                     /gene_synonym="CLCRP2"
                     /note="major polyA site"
ORIGIN      
        1 gtttgacgtg gcagttccca gcccagctgc aactccgagc gtgagtccag gctaagggga
       61 cgccggccgg ggaagaggcg cggcgggaga agcgaccgca gcgggagccc ggccaccgag
      121 ggctgccggc actaggcgca gagccgccag cgctcggaag cccgcggggt gcgggagcgg
      181 gaacagactt cttttgtaga attatcctat ggaatgatat tttcataatg agtcaacaag
      241 gttacgtggc tacacctccg tattctcagc ctcagcctgg aataggcctt tctccacctc
      301 attatgggca ctatggggat ccgtcgcaca cagcatctcc aacaggtatg atgaagccag
      361 cagggccttt gggggccacc gccactaggg gaatgttgcc tccgggtccc ccacctcctg
      421 gaccccatca gtttggtcag aatggagctc atgccactgg tcaccctccc caaagatttc
      481 caggccctcc acctgtcaac aatgtggcat cctcacatgc accataccaa ccctctgcac
      541 aatcttctta tccaggtcct atatccactt catctgtcac ccagctgggc agccagctca
      601 gtgctatgca aatcaacagc tatggttcag gcatggctcc tccaagccag ggaccccctg
      661 gccctctgtc agccacatca ttgcagactc ctccacgacc tccacagcct tccattttgc
      721 agcctggatc tcaagttctt ccaccaccac ccaccacact caatggtcct ggtgcctcac
      781 ctttgcctct accaatgtac agaccagatg ggctctctgg gcctcctcct ccaaatgccc
      841 agtaccagcc cccacctctt ccaggccaga ccttgggtgc tggatatcct ccgcagcagg
      901 ccaactctgg tccccagatg gcaggcgcac aactgtctta cccaggaggc ttccctggag
      961 gtcctgcaca gatggctggt ccgccacagc cccagaagaa gctggatcct gactctatcc
     1021 ctagcccaat ccaggtgatt gagaatgata gagccagcag aggaggacaa gtttatgcca
     1081 ccaacaccag aggccagatc cctcccctgg tcactacaga ttgcatgata caagaccaag
     1141 gaaatgccag tcctcgattc atccgttgta caacatactg ttttccatgc acgtcagata
     1201 tggctaagca agctcagatt ccattagctg ctgtcatcaa gccctttgcc accattcctt
     1261 caaatgagag tcccctttac ttggtaaatc acggcgagag tggaccagtc agatgcaaca
     1321 ggtgcaaggc ctacatgtgc ccatttatgc agttcatcga aggaggaagg agatatcagt
     1381 gtggattttg caactgtgtg aatgatgttc caccattcta tttccaacat ctggaccaca
     1441 ttggaagaag actggaccac tatgagaaac cagagttatc tctaggatct tatgaatatg
     1501 ttgccacttt ggattattgc agaaagagta agcctcccaa cccaccagcc tttatcttca
     1561 tgattgatgt ttcatatagt aacataaaga atggacttgt caagctcata tgtgaagaac
     1621 tgaagaccat gctggaaaaa attccaaagg aagagcaaga agagacgtct gcaattcgag
     1681 tgggttttat cacatataac aaagttctcc atttctttaa tgtgaagagt aatctggccc
     1741 agcctcagat gatggtggtg actgatgttg gagaagtctt tgttcctttg ttggatggtt
     1801 tccttgtcaa ctatcaagaa tcccaatctg tgattcataa tttgttggac cagattccag
     1861 acatgtttgc agactctaat gaaaatgaga ctgtctttgc tcctgtcatc caggctggca
     1921 tggaagcact aaaggcagca gactgtcctg ggaagctgtt catcttccat tcttccttgc
     1981 caactgctga agcaccaggg aagctcaaaa acagagatga caaaaaactg gttaatacag
     2041 acaaagagaa gatacttttc cagccccaaa caaatgtcta tgactcattg gccaaggact
     2101 gcgtggctca cggctgctct gtgacactct tcctctttcc tagtcagtat gtggacgtgg
     2161 cctcgctggg gctggttcct cagctcactg gaggaaccct ttacaaatac aacaatttcc
     2221 agatgcactt ggatagacaa caatttttga acgacctcag aaatgatatt gaaaagaaaa
     2281 taggctttga tgctattatg agggttcgta ccagcacagg tttcagagcc actgatttct
     2341 ttggtggaat cttgatgaac aacaccaccg atgtagaaat ggctgccatc gattgtgaca
     2401 aggcagtgac cgtggagttc aagcacgatg acaaactcag tgaagacagt ggagccttaa
     2461 tccagtgtgc tgtgctttac acgacaatca gtggtcaaag aagacttcgg attcacaatc
     2521 ttggcttaaa ctgcagctct cagctagctg atctttataa gagctgtgag acagatgctc
     2581 ttatcaactt ctttgccaag tcagctttta aagcagttct ccaccagcct ttgaaggtca
     2641 tccgggaaat tctagttaat cagactgccc atatgttggc atgttaccgg aagaattgtg
     2701 caagtccttc tgcagcaagc cagcttattc taccagattc catgaaagta ttgccagtgt
     2761 acatgaattg cttgttgaaa aactgtgtac tactcagcag accagagatc tcaactgatg
     2821 aacgagcata ccagagacag ctggtcatga ccatgggtgt ggctgactct cagcttttct
     2881 tctacccaca acttctgccc atacacacgt tagatgtcaa gagtacaatg ttacctgctg
     2941 ccgttcgttg ctctgagtcc cgtctttcag aagaaggaat attcttactg gctaatggtc
     3001 tacacatgtt cctgtggttg ggagtaagca gcccaccaga actgatccaa ggaatattta
     3061 atgtgccatc ttttgcacat atcaacacag atatgacatt gctgcctgaa gtgggaaacc
     3121 catactctca acaactcaga atgataatgg gtattatcca acaaaagagg ccatattcaa
     3181 tgaagctcac aattgtaaag cagcgagaac aaccagaaat ggttttccga cagttcctgg
     3241 tagaagacaa aggactttac ggaggctctt cttatgtgga tttcctttgt tgtgttcaca
     3301 aggagatctg tcagctgctt aattaattga aacttctctg tcattgatgt tgcatttcca
     3361 aggagataat ctccttcttg gtgcctaatt ttctagatga taataggcta gttttgattt
     3421 cttgctcatt ttcagaataa ctttccagga agagatggca tttagaactt cagctttggt
     3481 gctcaggtat aaagccaatt aaggtacaat tgtaccataa agggaacaat ctgtttctga
     3541 ttgcacagtt tctaattttt aaaactgatg tggtttgcat ttcataaaag gcaaagttta
     3601 cagaaccata aacattctca attttcttta tgctagacat ataaattatt tttcaaactg
     3661 tatagatttg gggtaaaaag ttgtctcagt tcctctccca attgcaatga gaaaaaaaag
     3721 cttaattttt acattatact taattttcta aaaccatgta actccattga acacattttt
     3781 caacttaagg tctgcatagc agacttttaa taaccttggg atttatctgg tagaacaata
     3841 tgtgttctac atttttttca taattatata ttgtgtatgt taaaactatt ttccagttgt
     3901 tttgtctgta aaactgtctt tatcaatatg cttaatggtt ctttgtacaa ttttgaaagt
     3961 ttctacctgt atataatgga tgttaaccag tatcaataaa tcacttcgta taatctta
//
