2024-03-28 22:27:10, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024089 2129 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA. ACCESSION NM_024089 VERSION NM_024089.2 GI:176866368 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 2129) AUTHORS Ferraren,D.O., Liu,C., Badner,J.A., Corona,W., Rezvani,A., Monje,V.D., Gershon,E.S., Bonner,T.I. and Detera-Wadleigh,S.D. TITLE Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 133B (1), 12-17 (2005) PUBMED 15635705 REFERENCE 2 (bases 1 to 2129) AUTHORS Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L., Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E., Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E., Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T., Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R., Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P., Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J., Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E., Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J., French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J., Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E., Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J., Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M., Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S., Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J., McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A., Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M., Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D., Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W., Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W., Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S., Bentley,D.R., Rogers,J. and Ross,M.T. TITLE The DNA sequence and analysis of human chromosome 13 JOURNAL Nature 428 (6982), 522-528 (2004) PUBMED 15057823 REFERENCE 3 (bases 1 to 2129) AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J., Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B., Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E., Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S., Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C., Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V., Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K., Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., Godowski,P. and Gray,A. TITLE The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment JOURNAL Genome Res. 13 (10), 2265-2270 (2003) PUBMED 12975309 REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759] REFERENCE 4 (bases 1 to 2129) AUTHORS Kimata,Y., Ooboki,K., Nomura-Furuwatari,C., Hosoda,A., Tsuru,A. and Kohno,K. TITLE Identification of a novel mammalian endoplasmic reticulum-resident KDEL protein using an EST database motif search JOURNAL Gene 261 (2), 321-327 (2000) PUBMED 11167020 REMARK GeneRIF: This paper reports data on mouse Kdelc1 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB204842.1, DA885954.1, AK225103.1 and BC001297.1. On Apr 8, 2008 this sequence version replaced gi:13129085. Summary: This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC001297.1, AK222567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-29 DB204842.1 1-29 30-78 DA885954.1 1-49 79-2104 AK225103.1 2-2027 2105-2129 BC001297.1 2058-2082 FEATURES Location/Qualifiers source 1..2129 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q33" gene 1..2129 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="KDEL (Lys-Asp-Glu-Leu) containing 1" /db_xref="GeneID:79070" /db_xref="HGNC:19350" /db_xref="MIM:611613" exon 1..566 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" misc_feature 382..384 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="upstream in-frame stop codon" CDS 385..1893 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="ER protein 58; KDEL motif-containing protein 1; KDEL motif-containing 1; endoplasmic reticulum resident protein 58; ERp58" /codon_start=1 /product="KDEL motif-containing protein 1 precursor" /protein_id="NP_076994.2" /db_xref="GI:176866369" /db_xref="CCDS:CCDS9504.1" /db_xref="GeneID:79070" /db_xref="HGNC:19350" /db_xref="MIM:611613" /translation="
MFGTLLLYCFFLATVPALAETGGERQLSPEKSEIWGPGLKADVVLPARYFYIQAVDTSGNKFTSSPGEKVFQVKVSAPEEQFTRVGVQVLDRKDGSFIVRYRMYASYKNLKVEIKFQGQHVAKSPYILKGPVYHENCDCPLQDSAAWLREMNCPETIAQIQRDLAHFPAVDPEKIAVEIPKRFGQRQSLCHYTLKDNKVYIKTHGEHVGFRIFMDAILLSLTRKVKMPDVELFVNLGDWPLEKKKSNSNIHPIFSWCGSTDSKDIVMPTYDLTDSVLETMGRVSLDMMSVQANTGPPWESKNSTAVWRGRDSRKERLELVKLSRKHPELIDAAFTNFFFFKHDENLYGPIVKHISFFDFFKHKYQINIDGTVAAYRLPYLLVGDSVVLKQDSIYYEHFYNELQPWKHYIPVKSNLSDLLEKLKWAKDHDEEAKKIAKAGQEFARNNLMGDDIFCYYFKLFQEYANLQVSEPQIREGMKRVEPQTEDDLFPCTCHRKKTKDEL
" sig_peptide 385..441 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 454..774 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q6UW63.1); Region: Filamin" misc_feature 466..765 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="Filamin/ABP280 repeat; Region: Filamin; pfam00630" /db_xref="CDD:201358" misc_feature 469..771 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="Filamin-type immunoglobulin domains; Region: IG_FLMN; smart00557" /db_xref="CDD:197788" misc_feature 1060..1794 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /note="Putative lipopolysaccharide-modifying enzyme; Region: CAP10; smart00672" /db_xref="CDD:128917" misc_feature 1879..1890 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q6UW63.1); Region: Prevents secretion from ER (Potential)" exon 567..772 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" variation 724 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /replace="a" /replace="g" /db_xref="dbSNP:1047740" exon 773..978 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 979..1056 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1057..1229 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1230..1467 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1468..1677 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1678..1767 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1768..1875 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" exon 1876..2107 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /inference="alignment:Splign:1.39.8" variation 1982 /gene="KDELC1" /gene_synonym="EP58; KDEL1" /replace="a" /replace="g" /db_xref="dbSNP:1047759" polyA_signal 2082..2087 /gene="KDELC1" /gene_synonym="EP58; KDEL1" polyA_site 2104 /gene="KDELC1" /gene_synonym="EP58; KDEL1" polyA_site 2107 /gene="KDELC1" /gene_synonym="EP58; KDEL1" ORIGIN
gttactgagcctggcccgacgcacgggccaatcccctcgccctacaccttggctggaacctgagacggattcgctcccaaatgatgctccagtggcaggagcaactcaagttcatcattgtcctgagagagaggagcagcgcggttctcggccgggacagcagaacgccaggggaccctcacctgggcgcgccggggcacgggctttgattgtcctggggtcgcggagacccgcgcgcctgccctgcacgccgggcggcaacctttgcagtcgcgttggctgctgcgatcggccggcgggtccctgccgaaggctcggctgcttctgtccacctcttacacttcttcatttatcggtggatcatttcgagagtccgtcttgtaaatgtttggcactttgctactttattgcttctttctggcgacagttccagcactcgccgagaccggcggagaaaggcagctgagcccggagaagagcgaaatatggggacccgggctaaaagcagacgtcgtccttcccgcccgctatttctatattcaggcagtggatacatcagggaataaattcacatcttctccaggcgaaaaggtcttccaggtgaaagtctcagcaccagaggagcaattcactagagttggagtccaggttttagaccgaaaagatgggtccttcatagtaagatacagaatgtatgcaagctacaaaaatctgaaggtggaaattaaattccaagggcaacatgtggccaaatccccatatattttaaaagggccggtttaccatgagaactgtgactgtcctctgcaagatagtgcagcctggctacgggagatgaactgccctgaaaccattgctcagattcagagagatctggcacatttccctgctgtggatccagaaaagattgcagtagaaatcccaaaaagatttggacagaggcagagcctatgtcactacaccttaaaggataacaaggtttatatcaagactcatggtgaacatgtaggttttagaattttcatggatgccatactactttctttgactagaaaggtgaagatgccagatgtggagctctttgttaatttgggagactggcctttggaaaaaaagaaatccaattcaaacatccatccgatcttttcctggtgtggctccacagattccaaggatatcgtgatgcctacgtacgatttgactgattctgttctggaaaccatgggccgggtaagtctggatatgatgtccgtgcaagctaacacgggtcctccctgggaaagcaaaaattccactgccgtctggagagggcgagacagccgcaaagagagactcgagctggttaaactcagtagaaaacacccagaactcatagacgctgctttcaccaactttttcttctttaaacacgatgaaaacctgtatggtcccattgtgaaacatatttcattttttgatttcttcaagcataagtatcaaataaatatcgatggcactgtagcagcttatcgcctgccatatttgctagttggtgacagtgttgtgctgaagcaggattccatctactatgaacatttttacaatgagctgcagccctggaaacactacattccagttaagagcaacctgagcgatctgctagaaaaacttaaatgggcgaaagatcacgatgaagaggccaaaaagatagcaaaagcaggacaagaatttgcaagaaataatctcatgggcgatgacatattctgttattatttcaaacttttccaggaatatgccaatttacaagtgagtgagccccaaatccgagagggcatgaaaagggtagaaccacagactgaggacgacctcttcccttgtacttgccataggaaaaagaccaaagatgaactctgatatgcaaaataacttctattagaataatggtgctctgaagactcttcttaactaaaaagaagaatttttttaagtattaattccatggacaatataaaatctgtgtgattgtttgcagtatgaagacacatttctacttatgcagtattctcatgactgtactttaaagtacatttttagaattttataataaaaccacctttattttaaaggaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79070 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: ISS
by
@meso_cacase at
DBCLS
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