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2020-10-26 18:13:47, 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
//

Annotations:

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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