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2019-03-20 12:14:45, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001134671            3284 bp    mRNA    linear   PRI 20-APR-2013
DEFINITION  Homo sapiens derlin 1 (DERL1), transcript variant 2, mRNA.
ACCESSION   NM_001134671
VERSION     NM_001134671.2  GI:402232740
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 3284)
  AUTHORS   Honjo,Y., Ito,H., Horibe,T., Shimada,H., Nakanishi,A., Mori,H.,
            Takahashi,R. and Kawakami,K.
  TITLE     Derlin-1-immunopositive inclusions in patients with Alzheimer's
            disease
  JOURNAL   Neuroreport 23 (10), 611-615 (2012)
   PUBMED   22627700
  REMARK    GeneRIF: Upregulation of derlin-1 may be associated with
            endoplasmic reticulum stress in neuronal cells in Alzheimer's
            disease.
REFERENCE   2  (bases 1 to 3284)
  AUTHORS   Wang,F., Olson,E.M. and Shyng,S.L.
  TITLE     Role of Derlin-1 protein in proteostasis regulation of
            ATP-sensitive potassium channels
  JOURNAL   J. Biol. Chem. 287 (13), 10482-10493 (2012)
   PUBMED   22311976
  REMARK    GeneRIF: Derlin-1 expression levels may affect glucose-stimulated
            insulin secretion by altering surface expression of K(ATP)
            channels.
REFERENCE   3  (bases 1 to 3284)
  AUTHORS   Suzuki,M., Otsuka,T., Ohsaki,Y., Cheng,J., Taniguchi,T.,
            Hashimoto,H., Taniguchi,H. and Fujimoto,T.
  TITLE     Derlin-1 and UBXD8 are engaged in dislocation and degradation of
            lipidated ApoB-100 at lipid droplets
  JOURNAL   Mol. Biol. Cell 23 (5), 800-810 (2012)
   PUBMED   22238364
  REMARK    GeneRIF: These results indicate that ApoB after lipidation is
            dislocated from the ER lumen to the LD surface for proteasomal
            degradation and that Derlin-1 and UBXD8 are engaged in the
            predislocation and postdislocation steps, respectively.
REFERENCE   4  (bases 1 to 3284)
  AUTHORS   Greenblatt,E.J., Olzmann,J.A. and Kopito,R.R.
  TITLE     Derlin-1 is a rhomboid pseudoprotease required for the dislocation
            of mutant alpha-1 antitrypsin from the endoplasmic reticulum
  JOURNAL   Nat. Struct. Mol. Biol. 18 (10), 1147-1152 (2011)
   PUBMED   21909096
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3284)
  AUTHORS   Schulze,A., Standera,S., Buerger,E., Kikkert,M., van Voorden,S.,
            Wiertz,E., Koning,F., Kloetzel,P.M. and Seeger,M.
  TITLE     The ubiquitin-domain protein HERP forms a complex with components
            of the endoplasmic reticulum associated degradation pathway
  JOURNAL   J. Mol. Biol. 354 (5), 1021-1027 (2005)
   PUBMED   16289116
REFERENCE   6  (bases 1 to 3284)
  AUTHORS   Ye,Y., Shibata,Y., Kikkert,M., van Voorden,S., Wiertz,E. and
            Rapoport,T.A.
  TITLE     Recruitment of the p97 ATPase and ubiquitin ligases to the site of
            retrotranslocation at the endoplasmic reticulum membrane
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 102 (40), 14132-14138 (2005)
   PUBMED   16186510
  REMARK    GeneRIF: Derlin-1 is part of a retrotranslocation channel that is
            associated with both the polyubiquitination and p97-ATPase
            machineries at the endoplasmic reticulum membrane.
REFERENCE   7  (bases 1 to 3284)
  AUTHORS   Lilley,B.N. and Ploegh,H.L.
  TITLE     Multiprotein complexes that link dislocation, ubiquitination, and
            extraction of misfolded proteins from the endoplasmic reticulum
            membrane
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 102 (40), 14296-14301 (2005)
   PUBMED   16186509
REFERENCE   8  (bases 1 to 3284)
  AUTHORS   Katiyar,S., Joshi,S. and Lennarz,W.J.
  TITLE     The retrotranslocation protein Derlin-1 binds peptide:N-glycanase
            to the endoplasmic reticulum
  JOURNAL   Mol. Biol. Cell 16 (10), 4584-4594 (2005)
   PUBMED   16055502
  REMARK    GeneRIF: Derlin-1 interacts with the N-terminal domain of PNGase
            via its cytosolic C-terminus. PNGase distributed in two
            populations; ER-associated and free in the cytosol, which suggests
            the deglycosylation process can proceed at either site
REFERENCE   9  (bases 1 to 3284)
  AUTHORS   Ye,Y., Shibata,Y., Yun,C., Ron,D. and Rapoport,T.A.
  TITLE     A membrane protein complex mediates retro-translocation from the ER
            lumen into the cytosol
  JOURNAL   Nature 429 (6994), 841-847 (2004)
   PUBMED   15215856
  REMARK    GeneRIF: Derlin-1 interacts with US11, a virally encoded ER protein
            that specifically targets MHC class I heavy chains for export from
            the ER, as well as with VIMP, a novel membrane protein that
            recruits the p97 ATPase and its cofactor
REFERENCE   10 (bases 1 to 3284)
  AUTHORS   Lilley,B.N. and Ploegh,H.L.
  TITLE     A membrane protein required for dislocation of misfolded proteins
            from the ER
  JOURNAL   Nature 429 (6994), 834-840 (2004)
   PUBMED   15215855
  REMARK    GeneRIF: Derlin-1 is an important factor for the extraction of
            certain aberrantly folded proteins from the mammalian ER
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA800358.1, DA906855.1,
            AK124086.1, AY358818.1, AK023846.1, AF131854.1 and AA976062.1.
            On Aug 24, 2012 this sequence version replaced gi:197927277.
            
            Summary: The protein encoded by this gene is a member of the derlin
            family. Members of this family participate in the ER-associated
            degradation response and retrotranslocate misfolded or unfolded
            proteins from the ER lumen to the cytosol for proteasomal
            degradation. This protein recognizes substrate in the ER and works
            in a complex to retrotranslocate it across the ER membrane into the
            cytosol. This protein may select cystic fibrosis transmembrane
            conductance regulator protein (CFTR) for degradation as well as
            unfolded proteins in Alzheimer's disease. Alternative splicing
            results in multiple transcript variants that encode different
            protein isoforms. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region compared to variant 1. It encodes
            isoform 2 which is shorter than 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 :: AK124086.1, DB013661.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-438               DA800358.1         1-438
            439-439             DA906855.1         425-425
            440-1055            AK124086.1         1-616
            1056-1303           AY358818.1         994-1241
            1304-2295           AK023846.1         4533-5524
            2296-2547           AY358818.1         2232-2483
            2548-3001           AF131854.1         1116-1569
            3002-3096           AY358818.1         2939-3033
            3097-3284           AA976062.1         1-188               c
FEATURES             Location/Qualifiers
     source          1..3284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..3284
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /note="derlin 1"
                     /db_xref="GeneID:79139"
                     /db_xref="HGNC:28454"
                     /db_xref="MIM:608813"
     exon            1..454
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    215..217
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /note="upstream in-frame stop codon"
     CDS             302..997
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /note="isoform b is encoded by transcript variant 2;
                     derlin-1; DERtrin-1; degradation in endoplasmic reticulum
                     protein 1; Der1-like domain family, member 1"
                     /codon_start=1
                     /product="derlin-1 isoform b"
                     /protein_id="NP_001128143.1"
                     /db_xref="GI:197927278"
                     /db_xref="CCDS:CCDS47915.1"
                     /db_xref="GeneID:79139"
                     /db_xref="HGNC:28454"
                     /db_xref="MIM:608813"
                     /translation="
MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATFYFPVGPGTGFLYLVNLYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQLLMIPLIMSVLYVWAQLNRDMIVSFWFGTRFKACYLPWVILGFNYIIGGSYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPASMRRAADQNGGGGRHNWGQGFRLGDQ
"
     misc_feature    332..853
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /note="Der1-like family; Region: DER1; pfam04511"
                     /db_xref="CDD:203034"
     variation       416
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:11551730"
     exon            455..566
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            567..631
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            632..658
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            659..754
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            755..807
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            808..858
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     exon            859..3280
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /inference="alignment:Splign:1.39.8"
     variation       1056
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7159"
     variation       1122
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7812"
     variation       1176
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11691"
     STS             1689..1845
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="D8S1422E"
                     /db_xref="UniSTS:151210"
     variation       1784
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1059588"
     variation       1937
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3739292"
     STS             2101..2269
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="STS-F13780"
                     /db_xref="UniSTS:70380"
     polyA_signal    2276..2281
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
     STS             2330..3178
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="MGC3067__7703"
                     /db_xref="UniSTS:466327"
     STS             2365..2517
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="SHGC-64153"
                     /db_xref="UniSTS:80876"
     STS             2378..2610
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="RH68084"
                     /db_xref="UniSTS:2791"
     polyA_signal    2632..2637
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
     STS             2833..3059
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /standard_name="RH81010"
                     /db_xref="UniSTS:83749"
     variation       3002
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:7160"
     polyA_signal    3079..3084
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
     polyA_site      3098
                     /gene="DERL1"
                     /gene_synonym="DER-1; DER1"
                     /note="The 3' most polyA site has not been determined.
                     This is an internal site."
ORIGIN      
acctggctccgccccccaggacgccgagcctcggccgggcggtaaaatcggcgcttaccctttaagcggcgggacttctggtcacgtcgtccgcggtcgccggaaggggaagtttcgcctcagaaggctgcctcgctggtccgaattcggtggcgccacgtccgcccgtctccgccttctgcatcgcggcttcggcggcttccacctagacacctaacagtcgcggagccggccgcgtcgtgagggggtcggcacggggagtcgggcggtcttgtgcatcttggctacctgtgggtcgaagatgtcggacatcggagactggttcaggagcatcccggcgatcacgcgctattggttcgccgccaccgtcgccgtgcccttggtcggcaaactcggcctcatcagcccggcctacctcttcctctggcccgaagccttcctttatcgctttcagatttggaggccaatcactgccaccttttatttccctgtgggtccaggaactggatttctttatttggtcaatttatatttcttatatcagtattctacgcgacttgaaacaggagcttttgatgggaggccagcagactatttattcatgctcctctttaactggatttgcatcgtgattactggcttagcaatggatatgcagttgctgatgattcctctgatcatgtcagtactttatgtctgggcccagctgaacagagacatgattgtatcattttggtttggaacacgatttaaggcctgctatttaccctgggttatccttggattcaactatatcatcggaggctcatacccaatggacttgggaggaagaaattttctatccacacctcagtttttgtaccgctggctgcccagtaggagaggaggagtatcaggatttggtgtgccccctgctagcatgaggcgagctgctgatcagaatggcggaggcgggagacacaactggggccagggctttcgacttggagaccagtgaaggggcggcctcgggcagccgctcctctcaagccacatttcctcccagtgctgggtgcacttaacaactgcgttctggctaacactgttggacctgacccacactgaatgtagtctttcagtacgagacaaagtttcttaaatcccgaagaaaaatataagtgttccacaagtttcacgattctcattcaagtccttactgctgtgaagaacaaataccaactgtgcaaattgcaaaactgactacattttttggtgtcttctcttctcccctttccgtctgaataatgggttttagcgggtcctagtctgctggcattgagctggggctgggtcaccaaacccttcccaaaaggacccttatctctttcttgcacacatgcctctctcccacttttcccaacccccacatttgcaactagaagaggttgcccataaaattgctctgcccttgacaggttctgttatttattgacttttgccaaggcttggtcacaacaatcatattcacgtaattttccccctttggtggcagaactgtagcaatagggggagaagacaagcagcggatgaagcgttttctcagcttttggaattgcttcgacctgacatccgttgtaaccgtttgccacttcttcagatatttttataaaaaagtaccactgagtcagtgagggccacagattggtattaatgagatacgagggttgttgctgggtgtttgtttcctgagctaagtgatcaagactgtagtggagttgcagctaacatgggttaggtttaaaccatgggggatgcaacccctttgcgtttcatatgtaggcctactggctttgtgtagctggagtagttgggttgctttgtgttaggaggatccagatcatgttggctacagggagatgctctctttgagaggctcctgggcattgattccatttcaatctcattctggatatgtgttcattgagtaaaggaggagagaccctcatacgctatttaaatgtcacttttttgcctatcccccgttttttggtcatgtttcaattaattgtgaggaaggcgcagctcctctctgcacgtagatcattttttaaagctaatgtaagcacatctaagggaataacatgatttaaggttgaaatggctttagaatcatttgggtttgagggtgtgttattttgagtcatgaatgtacaagctctgtgaatcagaccagcttaaatacccacacctttttttcgtaggtgggcttttcctatcagagcttggctcataaccaaataaagttttttgaaggccatggcttttcacacagttattttattttatgacgttatctgaaagcagactgttaggagcagtattgagtggctgtcacactttgaggcaactaaaaaggcttcaaacgttttgatcagtttcttttcaggaaacattgtgctctaacagtatgactattctttcccccactcttaaacagtgtgatgtgtgttatcctaggaaatgagagttggcaaacaacttctcattttgaatagagtttgtgtgtacctctccatatttaatttatatgataaaataggtggggagagtctgaaccttaactgtcatgttttgttgttcatctgtggccacaataaagtttacttgtaaaattttagaggccattactccaattatgttgcacgtacactcattgtacaggcgtggagactcattgtatgtataagaatattctgacagtgagtgacccggagtctctggtgtaccctcttaccagtcagctgcctgcgagcagtcattttttcctaaaggtttacaagtatttagaactcttcagttcagggcaaaatgttcatgaagttattcctcttaaacatggttaggaagctgatgacgttattgattttgtctggattatgtttctggaataattttaccaaaacaagctatttgagttttgacttgacaaggcaaaacatgacagtggattctctttacaaatggaaaaaaaaaatccttattttgtataaaggacttccctttttgtaaactaatcctttttattggtaaaaattgtaaattaaaatgtgcaacttgaaggttgtctgtgttaagtttccatgtccctgctctgctgtctcttagatatcacataatttgtgtaaccaattatctcttgaagagcatttaggaagtacccagtattttttgctggattaattcctggatgcagaattcctgggttttcattttaatgaaggaggatgcttgctaactttgaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:79139 -> Molecular function: GO:0004872 [receptor activity] evidence: NAS
            GeneID:79139 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:79139 -> Molecular function: GO:0042288 [MHC class I protein binding] evidence: IDA
            GeneID:79139 -> Biological process: GO:0006986 [response to unfolded protein] evidence: IMP
            GeneID:79139 -> Biological process: GO:0019060 [intracellular transport of viral proteins in host cell] evidence: TAS
            GeneID:79139 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: IDA
            GeneID:79139 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: IDA
            GeneID:79139 -> Biological process: GO:0030970 [retrograde protein transport, ER to cytosol] evidence: IDA
            GeneID:79139 -> Biological process: GO:0030970 [retrograde protein transport, ER to cytosol] evidence: IMP
            GeneID:79139 -> Biological process: GO:0045184 [establishment of protein localization] evidence: TAS
            GeneID:79139 -> Cellular component: GO:0005769 [early endosome] evidence: IEA
            GeneID:79139 -> Cellular component: GO:0005770 [late endosome] evidence: IEA
            GeneID:79139 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA
            GeneID:79139 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IMP
            GeneID:79139 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
            GeneID:79139 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: IDA

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