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2024-03-29 20:12:27, GGRNA : RefSeq release 60 (20130726)

LOCUS       NR_036493               3608 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript
            variant 3, non-coding RNA.
ACCESSION   NR_036493
VERSION     NR_036493.1  GI:302370948
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 3608)
  AUTHORS   Yagita,Y., Hiromasa,T. and Fujiki,Y.
  TITLE     Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and
            TRC40-independent class I pathway
  JOURNAL   J. Cell Biol. 200 (5), 651-666 (2013)
   PUBMED   23460677
  REMARK    GeneRIF: PEX19 formed a complex with the peroxisomal tail anchored
            protein PEX26 in the cytosol and translocated it directly to
            peroxisomes by a TRC40-independent class I pathway.
REFERENCE   2  (bases 1 to 3608)
  AUTHORS   Schmidt,F., Dietrich,D., Eylenstein,R., Groemping,Y., Stehle,T. and
            Dodt,G.
  TITLE     The role of conserved PEX3 regions in PEX19-binding and peroxisome
            biogenesis
  JOURNAL   Traffic 13 (9), 1244-1260 (2012)
   PUBMED   22624858
  REMARK    GeneRIF: PEX3-PEX19 interaction is crucial for de novo formation of
            peroxisomes in peroxisome-deficient cells.
REFERENCE   3  (bases 1 to 3608)
  AUTHORS   Sato,Y., Shibata,H., Nakatsu,T., Nakano,H., Kashiwayama,Y.,
            Imanaka,T. and Kato,H.
  TITLE     Structural basis for docking of peroxisomal membrane protein
            carrier Pex19p onto its receptor Pex3p
  JOURNAL   EMBO J. 29 (24), 4083-4093 (2010)
   PUBMED   21102411
  REMARK    GeneRIF: The Pex19p peptide contains a characteristic motif,
            consisting of the leucine triad (Leu18, Leu21, Leu22), and Phe29,
            which are critical for the Pex3p binding and peroxisome biogenesis.
REFERENCE   4  (bases 1 to 3608)
  AUTHORS   Mohamed,S., El-Meleagy,E., Nasr,A., Ebberink,M.S., Wanders,R.J. and
            Waterham,H.R.
  TITLE     A mutation in PEX19 causes a severe clinical phenotype in a patient
            with peroxisomal biogenesis disorder
  JOURNAL   Am. J. Med. Genet. A 152A (9), 2318-2321 (2010)
   PUBMED   20683989
REFERENCE   5  (bases 1 to 3608)
  AUTHORS   Mayerhofer,P.U., Kattenfeld,T., Roscher,A.A. and Muntau,A.C.
  TITLE     Two splice variants of human PEX19 exhibit distinct functions in
            peroxisomal assembly
  JOURNAL   Biochem. Biophys. Res. Commun. 291 (5), 1180-1186 (2002)
   PUBMED   11883941
  REMARK    GeneRIF: a considerable functional diversity of the proteins
            encoded by two PEX19 splice variants and thereby provide first
            experimental evidence for specific biological functions of the
            different predicted domains of the PEX19 protein.
            GeneRIF: ALDRP interacts with PEX19 splice variants PEX19-delta-E2
            and PEX19-delta-E8.
            GeneRIF: MP70 interacts with PEX19 splice variants PEX19-delta-E2
            and PEX19p-delta-E8.
REFERENCE   6  (bases 1 to 3608)
  AUTHORS   Sacksteder,K.A., Jones,J.M., South,S.T., Li,X., Liu,Y. and
            Gould,S.J.
  TITLE     PEX19 binds multiple peroxisomal membrane proteins, is
            predominantly cytoplasmic, and is required for peroxisome membrane
            synthesis
  JOURNAL   J. Cell Biol. 148 (5), 931-944 (2000)
   PUBMED   10704444
REFERENCE   7  (bases 1 to 3608)
  AUTHORS   Matsuzono,Y., Kinoshita,N., Tamura,S., Shimozawa,N., Hamasaki,M.,
            Ghaedi,K., Wanders,R.J., Suzuki,Y., Kondo,N. and Fujiki,Y.
  TITLE     Human PEX19: cDNA cloning by functional complementation, mutation
            analysis in a patient with Zellweger syndrome, and potential role
            in peroxisomal membrane assembly
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (5), 2116-2121 (1999)
   PUBMED   10051604
REFERENCE   8  (bases 1 to 3608)
  AUTHORS   Gotte,K., Girzalsky,W., Linkert,M., Baumgart,E., Kammerer,S.,
            Kunau,W.H. and Erdmann,R.
  TITLE     Pex19p, a farnesylated protein essential for peroxisome biogenesis
  JOURNAL   Mol. Cell. Biol. 18 (1), 616-628 (1998)
   PUBMED   9418908
REFERENCE   9  (bases 1 to 3608)
  AUTHORS   Kammerer,S., Arnold,N., Gutensohn,W., Mewes,H.W., Kunau,W.H.,
            Hofler,G., Roscher,A.A. and Braun,A.
  TITLE     Genomic organization and molecular characterization of a gene
            encoding HsPXF, a human peroxisomal farnesylated protein
  JOURNAL   Genomics 45 (1), 200-210 (1997)
   PUBMED   9339377
REFERENCE   10 (bases 1 to 3608)
  AUTHORS   Braun,A., Kammerer,S., Weissenhorn,W., Weiss,E.H. and Cleve,H.
  TITLE     Sequence of a putative human housekeeping gene (HK33) localized on
            chromosome 1
  JOURNAL   Gene 146 (2), 291-295 (1994)
   PUBMED   8076834
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC400252.1, DC405033.1,
            AB062286.1, AL513282.10 and BC064979.1.
            
            Summary: This gene is necessary for early peroxisomal biogenesis.
            It acts both as a cytosolic chaperone and as an import receptor for
            peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins
            that are essential for the assembly of functional peroxisomes. The
            peroxisome biogenesis disorders (PBDs) are a group of genetically
            heterogeneous autosomal recessive, lethal diseases characterized by
            multiple defects in peroxisome function. These disorders have at
            least 14 complementation groups, with more than one phenotype being
            observed for some complementation groups. Although the clinical
            features of PBD patients vary, cells from all PBD patients exhibit
            a defect in the import of one or more classes of peroxisomal matrix
            proteins into the organelle. Defects in this gene are a cause of
            Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder
            complementation group 14 (PBD-CG14), which is also known as
            PBD-CGJ. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (3, also known as PxFdelta4) lacks
            exon 4, compared to variant 1. This variant is represented as
            non-coding because the use of the supported translational start
            codon, as used in variant 1, renders the transcript a candidate for
            nonsense-mediated mRNA decay (NMD).
            
            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.
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DC400252.1         1-5
            6-563               DC405033.1         1-558
            564-2996            AB062286.1         510-2942
            2997-3479           AL513282.10        12658-13140         c
            3480-3608           BC064979.1         452-580
FEATURES             Location/Qualifiers
     source          1..3608
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..3608
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /note="peroxisomal biogenesis factor 19"
                     /db_xref="GeneID:5824"
                     /db_xref="HGNC:9713"
                     /db_xref="MIM:600279"
     misc_RNA        1..3608
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /product="peroxisomal biogenesis factor 19, transcript
                     variant 3"
                     /db_xref="GeneID:5824"
                     /db_xref="HGNC:9713"
                     /db_xref="MIM:600279"
     exon            1..97
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     variation       14
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2301297"
     misc_feature    28..588
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="COORDINATES:
                     alignment:Blast2seq::RefSeq|NM_002857.3"
                     /note="primary ORF has stop codon >50 nucleotides from the
                     terminal splice site; nonsense-mediated decay (NMD)
                     candidate"
     exon            98..207
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     variation       176
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11550117"
     exon            208..373
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     variation       281
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11550119"
     variation       338
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11550118"
     exon            374..535
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     exon            536..712
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     variation       704..705
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:62641227"
     exon            713..757
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     exon            758..3583
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1739
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8989"
     variation       1792
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3198504"
     polyA_signal    1892..1897
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
     variation       1902
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1057962"
     polyA_site      1912
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
     polyA_site      2188
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
     variation       2312
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:2301299"
     variation       2388
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1057973"
     variation       2997
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:10594"
     variation       3194
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:9853"
     polyA_signal    3500..3505
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
     polyA_site      3518
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
     polyA_site      3583
                     /gene="PEX19"
                     /gene_synonym="D1S2223E; HK33; PBD12A; PMP1; PMPI; PXF;
                     PXMP1"
ORIGIN      


ctcctacggcaagtcggaggtagcaagatggccgccgctgaggaaggctgtagtgtcggggccgaagcggacagggaattggaggagcttctggaaagtgctcttgatgatttcgataaagccaaaccctccccagcacccccttctaccaccacggcccctgatgcttcggggccccagaagagatcgccaggagacactgccaaagatgccctcttcgcttcccaagagaagtttttccaggaactattcgacagtgaactggcttcccaagccactgcggagttcgagaaggcaatgaaggagttggctgaggaagaaccccacctggtggagcagttccaaaagctctcagaggctgcagggagagtggaactccagcatgtcggaagaagagctgaccaaggccatggaggggctaggcatggacgaaggggatggggaagggaacatcctccccatcatgcagagtattatgcagaacctactctccaaggatgtgctgtacccatcactgaaggagatcacagaaaagtatccagaatggttgcagagtcatcgggaatctctacctccagagcagtttgaaaaatatcaggagcagcacagcgtcatgtgcaaaatatgtgagcagtttgaggcagagacccccacagacagtgaaaccactcaaaaggctcgttttgagatggtgctggatcttatgcagcagctacaagatttaggccatcctccaaaagagctggctggagagatgcctcctggcctcaactttgacctggatgccctcaatctttcgggcccaccaggtgccagtggtgaacagtgtctgatcatgtgaaacacaacacgttttcctctctgagtcccagctatggggaacatctggagtcagcagaaccattgggacctgaggcaggagtgtcacctgcgggagaagtctgcccgctgccctctgtcatcccattcaagattgtgccataccagctgaggtttttcctctgtctctctaggaatagggtctgtttcacaggccatttctgtgaaccctactccattgtggtttctgccactatcaaagttccagctacctgcaaggtgaaggaaggcatcccttttggggcatgcactttctttcctttctcaaaataatgttatatgtggccacactgatgttcacctttacgtccagggtctttgtgccttgtctctactccctctcttggatctggggaggaggggcagagacctgggactctgtatttctatagttctcctggcagagcctttgagaatggggagaaacagcctgggctggggctacaggtctgtcactatgctctcttgccttcagacagaccattctgaattctctaaagggaaagggcttttgcatctaatcacaatagagttgaaagagaggccttaggattctcctctctctaggtgctgagccctcacctccctgttccaggctgagaactcaaatggttaccctgcttcttcctacaatgctgtgtgatatgggtgaacccagcccctgaccttcctctatcccctgcccatcctcccttttacctcctctcttttttaaacacctgtttatcccaacctttttgagctcaagctgtgataaagaagggcccatcctatttcccctcatctagtccatttacgattctcactgactccccgtcttcctggcagacacaaataaacccagtgtcaggtctaggaaattaatggctattcttccccagatacattctggcttatttgagatacatgattctcttagaatcctgtcccttggttcaggaaagtagcttggaaaaggagtaggggtatagcttgggtcccttttcctgcaaggccccatggggcagaatataataaatattctgagtgaggagtgtggtctttttctgatcttcctcagcttccgtaagttgcagagtgaggtatattaggagactagttctacacaatattgtaatgctgggttccatcaacacccaccttccacaactcagtctgcacctcagttggcaaaggagactggatggccatctttcctcatgttcccttgagtatttcaatgtagaaagcccttcaagtggtattatattttaaccttttacattattgttattaatgttagtaatatattgttatgttttctaaattatttttctttaagctgacgtggctttttttctgtggctcccagtgggtctacggaccttggctgacatatgttggtaggtactctggtcagctcagctggctgtcctggttcactcagaagataagtctctccaaagcaaattcacatgcattatgagtcgctttgagcttctgacatgtcacttgccccgaggttaaaacttttcaccccttgaagaccttacatgttttatggtattggtgaggaaggaaatgttctcaaggtctcaggctatttgggaaattccaactcctataccttaccagagcatggaagagcccagatctgaatgtaaaacgtctctgttctgccagagatggaaaaaatacaggtatacttgtgatatagtcatggggcttcagtgtcactattttctccttaaagctccagccaaaaactggacaaggatagagaggaggagggaagaacaaaagagcccttctctatgaaccttgtgccttctgtcctaccagttttcttttacagattctcacttctgctagcctagccagggcttactccaggaatctaaatagatgccctagtccactttatctttgttcccaaggcactcatttttattttgattttgattgaatgtgagcaggttgacctcaggtcacactttgttccaaaaacttttggaattattccaggacttgtggtggagttatggtactctagggcagtctttctcaaactatgtatggtaaaggaccaggttttttgttttccagtccttcacttatcaatatgcattcctattgcccatgacaggtatggagttcacactgtgtgctgccgacccggcaagtttgacagcacccaaactggccagactgttctgtaggttaagtccattgatcatgtacttggatatcacagcaacattgaaatgctaaaaagtttttaaacactctcaatttctaattcaccatgtcacagactggtgaaaaaaaaaaaaaggtgttcactgaccagcacaagtctgcagatcatctttgagtagcactgttttggggccctcggtctctctgaagaccctagcagaactgatacctacctgtatctcttgttctctcctatttgagtttcacttccagagaacttgttcttcagcaagaatgtgtcactagtaaggacatctctagcatttctctagccttccttttctgctgctcaaaaataatcgttacaaagcttaggtttaagctgtatatgaaatatttatgcgactctcaaactttaaaggagttgctcctttgttccaaaattaaatgtgttagataaatttgtgattgtatgggtggcttcatgaattaagaattgaattaatacagactttttgataattggaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5824 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5824 -> Molecular function: GO:0036105 [peroxisome membrane class-1 targeting sequence binding] evidence: IDA
            GeneID:5824 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
            GeneID:5824 -> Molecular function: GO:0051117 [ATPase binding] evidence: IPI
            GeneID:5824 -> Biological process: GO:0006625 [protein targeting to peroxisome] evidence: IDA
            GeneID:5824 -> Biological process: GO:0006625 [protein targeting to peroxisome] evidence: IMP
            GeneID:5824 -> Biological process: GO:0007031 [peroxisome organization] evidence: IMP
            GeneID:5824 -> Biological process: GO:0007031 [peroxisome organization] evidence: NAS
            GeneID:5824 -> Biological process: GO:0016557 [peroxisome membrane biogenesis] evidence: IDA
            GeneID:5824 -> Biological process: GO:0016559 [peroxisome fission] evidence: IMP
            GeneID:5824 -> Biological process: GO:0045046 [protein import into peroxisome membrane] evidence: IDA
            GeneID:5824 -> Biological process: GO:0050821 [protein stabilization] evidence: IDA
            GeneID:5824 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
            GeneID:5824 -> Biological process: GO:0061077 [chaperone-mediated protein folding] evidence: IDA
            GeneID:5824 -> Biological process: GO:0072321 [chaperone-mediated protein transport] evidence: IDA
            GeneID:5824 -> Biological process: GO:0072663 [establishment of protein localization to peroxisome] evidence: IMP
            GeneID:5824 -> Biological process: GO:1900131 [negative regulation of lipid binding] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0005634 [nucleus] evidence: IMP
            GeneID:5824 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0005737 [cytoplasm] evidence: IMP
            GeneID:5824 -> Cellular component: GO:0005737 [cytoplasm] evidence: ISS
            GeneID:5824 -> Cellular component: GO:0005777 [peroxisome] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0005777 [peroxisome] evidence: ISS
            GeneID:5824 -> Cellular component: GO:0005778 [peroxisomal membrane] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:5824 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
            GeneID:5824 -> Cellular component: GO:0031526 [brush border membrane] evidence: ISS
            GeneID:5824 -> Cellular component: GO:0043234 [protein complex] evidence: IDA

by @meso_cacase at DBCLS
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