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
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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
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