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2024-04-25 19:53:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006364 3890 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.
ACCESSION NM_006364
VERSION NM_006364.2 GI:38202213
KEYWORDS RefSeq.
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 3890)
AUTHORS Ishikura-Kinoshita,S., Saeki,H. and Tsuji-Naito,K.
TITLE BBF2H7-mediated Sec23A pathway is required for endoplasmic
reticulum-to-Golgi trafficking in dermal fibroblasts to promote
collagen synthesis
JOURNAL J. Invest. Dermatol. 132 (8), 2010-2018 (2012)
PUBMED 22495181
REMARK GeneRIF: the BBF2H7-mediated Sec23A pathway is required for
ER-to-Golgi procollagen trafficking to promote collagen synthesis
REFERENCE 2 (bases 1 to 3890)
AUTHORS Szczyrba,J., Nolte,E., Wach,S., Kremmer,E., Stohr,R., Hartmann,A.,
Wieland,W., Wullich,B. and Grasser,F.A.
TITLE Downregulation of Sec23A protein by miRNA-375 in prostate carcinoma
JOURNAL Mol. Cancer Res. 9 (6), 791-800 (2011)
PUBMED 21593139
REMARK GeneRIF: Sec23A overexpression reduced cell growth but did not
induce apoptosis, whereas inhibition of Sec23A stimulated cell
proliferation
REFERENCE 3 (bases 1 to 3890)
AUTHORS Townley,A.K., Feng,Y., Schmidt,K., Carter,D.A., Porter,R.,
Verkade,P. and Stephens,D.J.
TITLE Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives
COPII-dependent collagen secretion and is essential for normal
craniofacial development
JOURNAL J. Cell. Sci. 121 (PT 18), 3025-3034 (2008)
PUBMED 18713835
REMARK GeneRIF: Data show that coupling of the Sec23/24 and Sec13/31
layers of the COPII coat is required to drive export of collagen
from the endoplasmic reticulum, and that efficient COPII assembly
is essential for normal craniofacial development during
embryogenesis.
REFERENCE 4 (bases 1 to 3890)
AUTHORS Stagg,S.M., LaPointe,P., Razvi,A., Gurkan,C., Potter,C.S.,
Carragher,B. and Balch,W.E.
TITLE Structural basis for cargo regulation of COPII coat assembly
JOURNAL Cell 134 (3), 474-484 (2008)
PUBMED 18692470
REFERENCE 5 (bases 1 to 3890)
AUTHORS Bi,X., Mancias,J.D. and Goldberg,J.
TITLE Insights into COPII coat nucleation from the structure of
Sec23.Sar1 complexed with the active fragment of Sec31
JOURNAL Dev. Cell 13 (5), 635-645 (2007)
PUBMED 17981133
REMARK GeneRIF: Sec23A mutation causes cranio-lenticulo-sutural dysplasia,
and disrupts the nucleation of COPII coat proteins at endoplasmic
reticulum exit sites.
REFERENCE 6 (bases 1 to 3890)
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 7 (bases 1 to 3890)
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 8 (bases 1 to 3890)
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 9 (bases 1 to 3890)
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 10 (bases 1 to 3890)
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 BC036649.1, AK127355.1,
X97064.1 and BX537566.1.
This sequence is a reference standard in the RefSeqGene project.
On Nov 7, 2003 this sequence version replaced gi:5454041.
Summary: The protein encoded by this gene is a member of the SEC23
subfamily of the SEC23/SEC24 family. It is part of a protein
complex and found in the ribosome-free transitional face of the
endoplasmic reticulum (ER) and associated vesicles. This protein
has similarity to yeast Sec23p component of COPII. COPII is the
coat protein complex responsible for vesicle budding from the ER.
The encoded protein is suggested to play a role in the ER-Golgi
protein trafficking. [provided by RefSeq, Jul 2008].
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 :: BC036649.1, X97064.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-853 BC036649.1 9-861
854-1724 AK127355.1 1228-2098
1725-2543 X97064.1 1661-2479
2544-3757 BX537566.1 1326-2539
3758-3890 BC036649.1 3766-3898
FEATURES Location/Qualifiers
source 1..3890
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q21.1"
gene 1..3890
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sec23 homolog A (S. cerevisiae)"
/db_xref="GeneID:10484"
/db_xref="HGNC:10701"
/db_xref="HPRD:06714"
/db_xref="MIM:610511"
exon 1..202
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 203..444
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
misc_feature 206..208
/gene="SEC23A"
/gene_synonym="CLSD"
/note="upstream in-frame stop codon"
CDS 224..2521
/gene="SEC23A"
/gene_synonym="CLSD"
/note="SEC23-related protein A"
/codon_start=1
/product="protein transport protein Sec23A"
/protein_id="NP_006355.2"
/db_xref="GI:38202214"
/db_xref="CCDS:CCDS9668.1"
/db_xref="GeneID:10484"
/db_xref="HGNC:10701"
/db_xref="HPRD:06714"
/db_xref="MIM:610511"
/translation="
MTTYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPVAALFTPLKERPDLPPIQYEPVLCSRTTCRAVLNPLCQVDYRAKLWACNFCYQRNQFPPSYAGISELNQPAELLPQFSSIEYVVLRGPQMPLIFLYVVDTCMEDEDLQALKESMQMSLSLLPPTALVGLITFGRMVQVHELGCEGISKSYVFRGTKDLSAKQLQEMLGLSKVPLTQATRGPQVQQPPPSNRFLQPVQKIDMNLTDLLGELQRDPWPVPQGKRPLRSSGVALSIAVGLLECTFPNTGARIMMFIGGPATQGPGMVVGDELKTPIRSWHDIDKDNAKYVKKGTKHFEALANRAATTGHVIDIYACALDQTGLLEMKCCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGFGGTLEIKTSREIKISGAIGPCVSLNSKGPCVSENEIGTGGTCQWKICGLSPTTTLAIYFEVVNQHNAPIPQGGRGAIQFVTQYQHSSGQRRIRVTTIARNWADAQTQIQNIAASFDQEAAAILMARLAIYRAETEEGPDVLRWLDRQLIRLCQKFGEYHKDDPSSFRFSETFSLYPQFMFHLRRSSFLQVFNNSPDESSYYRHHFMRQDLTQSLIMIQPILYAYSFSGPPEPVLLDSSSILADRILLMDTFFQILIYHGETIAQWRKSGYQDMPEYENFRHLLQAPVDDAQEILHSRFPMPRYIDTEHGGSQARFLLSKVNPSQTHNNMYAWGQESGAPILTDDVSLQVFMDHLKKLAVSSAA
"
misc_feature 257..2512
/gene="SEC23A"
/gene_synonym="CLSD"
/note="transport protein sec23; Provisional; Region:
PLN00162"
/db_xref="CDD:177761"
misc_feature 395..517
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sec23/Sec24 zinc finger; Region: zf-Sec23_Sec24;
pfam04810"
/db_xref="CDD:203092"
misc_feature 599..1387
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sec23-like: Protein and membrane traffic in
eukaryotes is mediated by at least in part by the budding
and fusion of intracellular transport vesicles that
selectively carry cargo proteins and lipids from donor to
acceptor organelles. The two main classes...; Region:
Sec23-like; cd01478"
/db_xref="CDD:29251"
misc_feature order(698..700,1070..1072,1076..1078,1250..1255,
1316..1327)
/gene="SEC23A"
/gene_synonym="CLSD"
/note="vWA-Gelsolin like domain; other site"
/db_xref="CDD:29251"
misc_feature 767..790
/gene="SEC23A"
/gene_synonym="CLSD"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:29251"
misc_feature order(992..994,1139..1144,1148..1153,1157..1159,
1163..1168,1181..1183,1274..1282)
/gene="SEC23A"
/gene_synonym="CLSD"
/note="vWA-Sar 1 interaction; other site"
/db_xref="CDD:29251"
misc_feature 1145..1147
/gene="SEC23A"
/gene_synonym="CLSD"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q15436.2); phosphorylation site"
misc_feature order(1154..1162,1283..1285,1304..1306,1313..1318,
1328..1330,1334..1336)
/gene="SEC23A"
/gene_synonym="CLSD"
/note="VWA-helical domain interaction; other site"
/db_xref="CDD:29251"
misc_feature 1424..1735
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sec23/Sec24 beta-sandwich domain; Region: Sec23_BS;
pfam08033"
/db_xref="CDD:203843"
misc_feature 1778..2080
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sec23/Sec24 helical domain; Region: Sec23_helical;
pfam04815"
/db_xref="CDD:203093"
misc_feature 2051..2413
/gene="SEC23A"
/gene_synonym="CLSD"
/note="C-terminal Actin depolymerization factor-homology
domain of Sec23; Region: Sec23_C; cd11287"
/db_xref="CDD:200443"
misc_feature order(2360..2362,2369..2374,2381..2383)
/gene="SEC23A"
/gene_synonym="CLSD"
/note="Sar1 interface [polypeptide binding]; other site"
/db_xref="CDD:200443"
misc_feature 2369..2371
/gene="SEC23A"
/gene_synonym="CLSD"
/note="catalytic residue [active]"
/db_xref="CDD:200443"
variation 422
/gene="SEC23A"
/gene_synonym="CLSD"
/replace="c"
/replace="t"
/db_xref="dbSNP:34039376"
exon 445..502
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 503..589
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 590..826
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 827..906
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 907..1051
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1052..1210
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1211..1326
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1327..1450
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1451..1531
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1532..1621
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1622..1728
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1729..1882
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 1883..1960
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
variation 1891
/gene="SEC23A"
/gene_synonym="CLSD"
/replace="a"
/replace="g"
/db_xref="dbSNP:11556216"
exon 1961..2122
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 2123..2209
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 2210..2365
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 2366..2431
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
exon 2432..3841
/gene="SEC23A"
/gene_synonym="CLSD"
/inference="alignment:Splign:1.39.8"
STS 3609..3728
/gene="SEC23A"
/gene_synonym="CLSD"
/standard_name="A003B13"
/db_xref="UniSTS:39651"
STS 3692..3810
/gene="SEC23A"
/gene_synonym="CLSD"
/standard_name="D14S644E"
/db_xref="UniSTS:53050"
polyA_signal 3819..3824
/gene="SEC23A"
/gene_synonym="CLSD"
polyA_site 3841
/gene="SEC23A"
/gene_synonym="CLSD"
ORIGIN
ggcagaggcggcgccagccatgttggccgggcggaggtcttcgctgaggcccggggcggggtggcgccacccctgattgcggtgccacggactgctcctgctgggcggagaggacagattttgcaaagcggaggctgcgacgggtcctgcagggggacagtgaggaaagggccgcctcgtctccgctcctgggggaccgcagaaataagaatcaaactccacaatgacaacctatttggaattcattcaacaaaatgaagaacgagatggagtccgatttagttggaatgtttggccatcaagtcgactggaagctacaagaatggttgttcctgtggcagccctgtttacaccactgaaagagagacctgacttaccacctattcaatatgaacctgttctgtgtagtaggaccacttgccgtgcagttttgaatcctttatgtcaagtggattatcgagcaaaactttgggcttgcaacttttgttaccaaaggaatcagtttccacctagttatgctggtatatctgaactgaatcagcctgctgaacttttacctcagttttctagcattgaatatgtagttctgcgtggtcctcagatgcctttgatattcctctatgtggttgatacttgcatggaagatgaagatttacaagccctgaaagaatccatgcagatgtcattaagtcttttaccacctacagctttggttggacttattacttttgggagaatggttcaggttcatgaacttggatgtgaaggcatttcaaaaagctatgtcttcagaggaacaaaagatttgtctgccaaacaactgcaggaaatgctggggctctctaaagtaccacttactcaagcaacacgtggtcctcaggtacagcagccacctccttccaacagattcttacaaccagtacagaaaatagacatgaatctcacagatcttctgggagaactccagcgagacccttggcctgtaccacagggaaagagacctttgcgttcctctggggtggcactttccatagctgtaggactgctggagtgtacttttcccaacactggtgctcgtatcatgatgttcattggtggtcctgctactcaggggcctggaatggtggttggagatgagttgaagacacctataagatcgtggcatgacattgacaaagacaatgccaaatatgttaaaaagggaactaagcattttgaagcattggctaatcgagctgctacaactggccatgttattgatatctatgcgtgtgcattagatcagacaggtctcctggagatgaaatgctgtcccaaccttactggaggatacatggtaatgggtgattctttcaatacttccttattcaaacaaacttttcaaagagtctttaccaaagacatgcatggacagtttaaaatgggctttggtggtacgctagaaataaagacctcaagggaaataaagatttcaggagctattggaccctgtgtgtcactcaattctaaaggaccctgtgtgtctgaaaatgagataggaacaggtggcacatgtcagtggaagatatgtggacttagtcccactacaaccttagccatatattttgaggttgtcaatcagcataatgctccaattcctcaaggagggcgtggtgcaatccagtttgtgactcagtatcagcattcaagtgggcagagacgcatccgagtgaccaccattgctaggaactgggcagatgctcaaactcaaatccaaaacattgctgcatcttttgaccaggaggcagctgccattcttatggcccggctagcaatatatagagcagaaacagaagaaggtccagatgtgcttaggtggctggacagacagctcattcgactgtgtcagaaatttggagaatatcataaagatgacccaagttccttcagattttcagaaactttctccctttatccacagtttatgtttcatttaagaagatcttctttcctgcaagtttttaacaatagtcctgatgagagttcatattatcgtcaccattttatgcgtcaagatctgacccagtctctaattatgattcagcctatcctgtatgcgtattcttttagtggaccaccagagccggttcttcttgatagcagtagcattcttgcagatcgtattcttctcatggacacattcttccagattttgatttatcatggtgagaccatagcacagtggcggaagtcaggataccaggatatgcctgagtatgaaaatttccgccaccttctgcaagccccagtggatgatgcacaggaaattcttcactccagatttccaatgccaagatacattgacactgaacatggaggcagccaggcccgtttcctcctttcaaaagtcaacccttcacagactcataataatatgtatgcctgggggcaggagtctggagcacctattcttacagatgatgttagtttacaagtgtttatggatcacttgaagaaacttgctgtgtccagtgctgcttgaagtgctaataatgttaaagacacttaagaagatgaaataatattcaaatttcattttttcctttttccatttatctgtggaaaccaacagatattgctctatattttttgtattagtatggtttgagacaacatatggaaaatgttcacatttgtagattaagctggaattataatgagagcaataagaacaaatttattttgcttaccacagtgttatagctggttctagaaatttgaagtctttataacttaattatgtttaataaaaaatagagtctgcctcgtactacagatgtaactcatttgtatattgcagacagacccaaagtggcactgaattttcttgctcaccttttaaaaacttgttccttaattttagccagaaagcaaaaaaacaatagtaatgataaatgtgaacatttttgcttattcattgaatatttttctgtaattttcagcacttatgtatacactttttctgtacttactaggttaaggcagatttatttttatgatttgtttaggaattatttgattttataatggtaattttcatgatgataatgtttttggttatttggaaagatagtttagagatgaaaggtttttttgggtaacaatcccgcagctgacaaaaaatgtgaaatttccacaaaatatccaacttatgtgactaaacgcagtagtttttttaaaaggggagatagaaaataaatggttttgttggagtgcattttagtaagcctttgcagtaaaatgacggttgtaactactaaaccaaatttagttttcacagcatggttttgttgttttccccttgtttttcagaggtaaattttgcattatatccttcagtattttaacactattttggcagtttacacattactttttgtttttccttcctttttgtgaaatgtattaagttgtggttcttattgaaacagtattatataatgtttgcttaattatatcatgtgatgctcagttctattttgatttattcattagtattcacttttacctttaaagtttacttgtagcaaatatgtttacattgataaagccagatatgttttgacaatgaaatttacatatcaagtactgcaaataaaaggtggtgctatgatatatgcttaggaggacagttttaatgattgtacttgcatgaacacaatcatatgatggtaaagcagaaacttaagaaaaaattgtttatgtgttatattcaattagcttaaataagttgctttgttatattttatttgaattgaactacgctaggcctaaatgccaataaaatatacttttcactgttaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:10484 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:10484 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:10484 -> Biological process: GO:0002474 [antigen processing and presentation of peptide antigen via MHC class I] evidence: TAS
GeneID:10484 -> Biological process: GO:0006886 [intracellular protein transport] evidence: IEA
GeneID:10484 -> Biological process: GO:0006888 [ER to Golgi vesicle-mediated transport] evidence: TAS
GeneID:10484 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:10484 -> Biological process: GO:0016192 [vesicle-mediated transport] evidence: TAS
GeneID:10484 -> Biological process: GO:0018279 [protein N-linked glycosylation via asparagine] evidence: TAS
GeneID:10484 -> Biological process: GO:0019886 [antigen processing and presentation of exogenous peptide antigen via MHC class II] evidence: TAS
GeneID:10484 -> Biological process: GO:0043687 [post-translational protein modification] evidence: TAS
GeneID:10484 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:10484 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:10484 -> Biological process: GO:0048208 [COPII vesicle coating] evidence: TAS
GeneID:10484 -> Cellular component: GO:0000139 [Golgi membrane] evidence: IEA
GeneID:10484 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS
GeneID:10484 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
GeneID:10484 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:10484 -> Cellular component: GO:0012507 [ER to Golgi transport vesicle membrane] evidence: TAS
GeneID:10484 -> Cellular component: GO:0030127 [COPII vesicle coat] evidence: IEA
GeneID:10484 -> Cellular component: GO:0030868 [smooth endoplasmic reticulum membrane] evidence: IEA
GeneID:10484 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
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