2024-04-20 20:59:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278466 4211 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens dynamin 1-like (DNM1L), transcript variant 7, mRNA. ACCESSION NM_001278466 VERSION NM_001278466.1 GI:510937028 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 4211) AUTHORS Duboff,B., Feany,M. and Gotz,J. TITLE Why size matters - balancing mitochondrial dynamics in Alzheimer's disease JOURNAL Trends Neurosci. 36 (6), 325-335 (2013) PUBMED 23582339 REFERENCE 2 (bases 1 to 4211) AUTHORS Guo,C., Hildick,K.L., Luo,J., Dearden,L., Wilkinson,K.A. and Henley,J.M. TITLE SENP3-mediated deSUMOylation of dynamin-related protein 1 promotes cell death following ischaemia JOURNAL EMBO J. 32 (11), 1514-1528 (2013) PUBMED 23524851 REFERENCE 3 (bases 1 to 4211) AUTHORS Ryu,S.W., Yoon,J., Yim,N., Choi,K. and Choi,C. TITLE Downregulation of OPA3 is responsible for transforming growth factor-beta-induced mitochondrial elongation and F-actin rearrangement in retinal pigment epithelial ARPE-19 cells JOURNAL PLoS ONE 8 (5), E63495 (2013) PUBMED 23658835 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 4211) AUTHORS Frohlich,C., Grabiger,S., Schwefel,D., Faelber,K., Rosenbaum,E., Mears,J., Rocks,O. and Daumke,O. TITLE Structural insights into oligomerization and mitochondrial remodelling of dynamin 1-like protein JOURNAL EMBO J. 32 (9), 1280-1292 (2013) PUBMED 23584531 REMARK GeneRIF: An oligomerization mode for DNM1L which differs from that of dynamin and might be adapted to the remodelling of mitochondria. REFERENCE 5 (bases 1 to 4211) AUTHORS Li,D., Zhao,Z., Huang,Y., Lu,Z., Yao,M., Hao,Y., Zhai,C. and Wang,Y. TITLE PsVPS1, a dynamin-related protein, is involved in cyst germination and soybean infection of Phytophthora sojae JOURNAL PLoS ONE 8 (3), E58623 (2013) PUBMED 23516518 REFERENCE 6 (bases 1 to 4211) AUTHORS Waterham,H.R., Koster,J., van Roermund,C.W., Mooyer,P.A., Wanders,R.J. and Leonard,J.V. TITLE A lethal defect of mitochondrial and peroxisomal fission JOURNAL N. Engl. J. Med. 356 (17), 1736-1741 (2007) PUBMED 17460227 REFERENCE 7 (bases 1 to 4211) AUTHORS Hong,Y.R., Chen,C.H., Cheng,D.S., Howng,S.L. and Chow,C.C. TITLE Human dynamin-like protein interacts with the glycogen synthase kinase 3beta JOURNAL Biochem. Biophys. Res. Commun. 249 (3), 697-703 (1998) PUBMED 9731200 REFERENCE 8 (bases 1 to 4211) AUTHORS Imoto,M., Tachibana,I. and Urrutia,R. TITLE Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p JOURNAL J. Cell. Sci. 111 (PT 10), 1341-1349 (1998) PUBMED 9570752 REFERENCE 9 (bases 1 to 4211) AUTHORS Kamimoto,T., Nagai,Y., Onogi,H., Muro,Y., Wakabayashi,T. and Hagiwara,M. TITLE Dymple, a novel dynamin-like high molecular weight GTPase lacking a proline-rich carboxyl-terminal domain in mammalian cells JOURNAL J. Biol. Chem. 273 (2), 1044-1051 (1998) PUBMED 9422767 REFERENCE 10 (bases 1 to 4211) AUTHORS Shin,H.W., Shinotsuka,C., Torii,S., Murakami,K. and Nakayama,K. TITLE Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p JOURNAL J. Biochem. 122 (3), 525-530 (1997) PUBMED 9348079 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK302565.1, AK294533.1 and AC087588.10. Summary: This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. Transcript Variant: This variant (7) contains an alternate exon in its 5' UTR, lacks four consecutive exons in the internal coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (7) has a shorter and distinct N-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AK294533.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-120 AK302565.1 1-120 121-2217 AK294533.1 1-2097 2218-4211 AC087588.10 138112-140105 c FEATURES Location/Qualifiers source 1..4211 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12p11.21" gene 1..4211 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /note="dynamin 1-like" /db_xref="GeneID:10059" /db_xref="HGNC:2973" /db_xref="MIM:603850" exon 1..266 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 267..414 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" misc_feature 289..291 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /note="upstream in-frame stop codon" CDS 370..1971 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /EC_number="3.6.5.5" /note="isoform 7 is encoded by transcript variant 7; Dnm1p/Vps1p-like protein; dynamin family member proline-rich carboxyl-terminal domain less; dynamin-like protein 4; dynamin-like protein IV; dynamin-related protein 1" /codon_start=1 /product="dynamin-1-like protein isoform 7" /protein_id="NP_001265395.1" /db_xref="GI:510937029" /db_xref="GeneID:10059" /db_xref="HGNC:2973" /db_xref="MIM:603850" /translation="
MFHKKINGKQQEKKMTLLHGKTQDTFLKGWKQKNGVNFFTPKIRSQLDINNKKSVTDSIRDEYAFLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKTRINVLAAQYQSLLNSYGEPVDDKSATLLQLITKFATEYCNTIEGTAKYIETSELCGGARICYIFHETFGRTLESVDPLGGLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKLHDAIVEVVTCLLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMNNNIEEQRRNRLARELPSAVSRDKSSKVPSALAPASQEPSPAASAEADGKLIQDSRRETKNVASGGGGVGDGVQEPTTGNWRGMLKTSKAEELLAEEKSKPIPIMPASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIKSYFLIVRKNIQDSVPKAVMHFLVNHVKDTLQSELVGQLYKSSLLDDLLTESEDMAQRRKEAADMLKALQGASQIIAEIRETHLW
" misc_feature <391..>1263 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /note="Predicted GTPases (dynamin-related) [General function prediction only]; Region: COG0699" /db_xref="CDD:223771" misc_feature 499..1314 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /note="Dynamin central region; Region: Dynamin_M; pfam01031" /db_xref="CDD:216255" misc_feature 1681..1950 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /note="Dynamin GTPase effector domain; Region: GED; pfam02212" /db_xref="CDD:202159" exon 415..453 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 454..500 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 501..632 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 633..839 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 840..960 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 961..1116 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1117..1206 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1207..1299 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1300..1356 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1357..1434 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1435..1467 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1468..1644 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1645..1754 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1755..1914 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" exon 1915..4211 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /inference="alignment:Splign:1.39.8" STS 2024..2148 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="RH15679" /db_xref="UniSTS:46217" STS 2290..2939 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="DNM1L_7961" /db_xref="UniSTS:467656" STS 2494..2622 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="G43506" /db_xref="UniSTS:94963" STS 2515..2615 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="G59502" /db_xref="UniSTS:136666" STS 3015..3119 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="D11S3114" /db_xref="UniSTS:152207" STS 3016..3225 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="RH80030" /db_xref="UniSTS:87680" STS 3101..3188 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 3699..3806 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" /standard_name="SGC30841" /db_xref="UniSTS:38655" polyA_signal 4083..4088 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" polyA_site 4108 /gene="DNM1L" /gene_synonym="DLP1; DRP1; DVLP; DYMPLE; EMPF; HDYNIV" ORIGIN
agcgcatggcctgccgggagggggcaggtagccggcgggcccggtccaatgggtgccggcttccgaggagagggcggaggagaggaggaaggaggcgaactgtgggccccggccccattcattgccgtggccggcgggcactggggccccgtgttttcagagtcatggaggcgctaattcctgtcataaacaagctccaggacgtcttcaacacggtgggcgccgacatcatccagctgcctcaaatcgtcgtagtgggaacgcagagcagcggaaagagctcagtgctagaaagcctggtggggagggacctgcttcccagaggtactggaattgtcacccggagacctctcattctgcaactggtccatgtttcacaagaagataaacggaaaacaacaggagaagaaaatgaccctgctacatggaaaaactcaagacacctttctaaaggggtggaagcagaagaatggggtaaatttcttcacaccaaaaataaggagccagctagatattaacaacaagaagagtgtaactgattcaatccgtgatgagtatgcttttcttcaaaagaaatatccatctctggccaatagaaatggaacaaagtatcttgctaggactctaaacaggttactgatgcatcacatcagagattgtttaccagagttgaaaacaagaataaatgttctagctgctcagtatcagtctcttctaaatagctacggtgaacccgtggatgataaaagtgctactttactccaacttattaccaaatttgccacagaatattgtaacactattgaaggaactgcaaaatatattgaaacttcggagctatgcggtggtgctagaatttgttatattttccatgagacttttgggcgaaccttagaatctgttgatccacttggtggccttaacactattgacattttgactgccattagaaatgctactggtcctcgtcctgctttatttgtgcctgaggtttcatttgagttactggtgaagcggcaaatcaaacgtctagaagagcccagcctccgctgtgtggaactggttcatgaggaaatgcaaaggatcattcagcactgtagcaattacagtacacaggaattgttacgatttcctaaacttcatgatgccatagttgaagtggtgacttgtcttcttcgtaaaaggttgcctgttacaaatgaaatggtccataacttagtggcaattgaactggcttatatcaacacaaaacatccagactttgctgatgcttgtgggctaatgaacaataatatagaggaacaaaggagaaacaggctagccagagaattaccttcagctgtatcacgagacaagtcttctaaagttccaagtgctttggcacctgcctcccaggagccctcccccgctgcttctgctgaggctgatggcaagttaattcaggacagcagaagagaaactaaaaatgttgcatctggaggtggtggggttggagatggtgttcaagaaccaaccacaggcaactggagaggaatgctgaaaacttcaaaagctgaagagttattagcagaagaaaaatcaaaacccattccaattatgccagccagtccacaaaaaggtcatgccgtgaacctgctagatgtgccagttcctgttgcacgaaaactatctgctcgggaacagcgagattgtgaggttattgaacgactcattaaatcatattttctcattgtcagaaagaatattcaagacagtgtgccaaaggcagtaatgcattttttggttaatcatgtgaaagacactcttcagagtgagctagtaggccagctgtataaatcatccttattggatgatcttctgacagaatctgaggacatggcacagcgcaggaaagaagcagctgatatgctaaaggcattacaaggagccagtcaaattattgctgaaatccgggagactcatctttggtgaagagaactatgtaatactgagactttgttgactcaaaacttgctagttactgcctacctgagtagaatcttatttatgaactcctgtgtattgcaatggtatgaatctgctcatgtggagactggctataaactgaaaagtgtattccaaattgcagaacacatcacacatttaatccaaataataaatggctgtttctaaagtttcccagtatatataaaatacatcaagtctgtcttgtgacagtttcatctgaacttaacttaaaaacaactgttaatgttctagttgtgcaaagcagtttgcctgtggataagatgacctgtgtaataatctttgttagtagtcttaaagctgctgccatagtcctccaagaagaaagcaccaagacaacatttcatatgactataatgcatgtactatataagctgatctggctttgaaagatgtgagttggcaagttcctcacatagagtcattgtattccacctgtccttcaatttagttttttctgagcttctttgcagcctttgatgtgtttttaagaaagctgaatgcacaagaggatctgtgacactgacatggctgtggtgtgcatactgtgtagttacatagcccttccaattctgggtccatttgcactagcaaattaaaatatgctttgattcatacttaaacctgaaagcaggaatgcctacattaattcctacattaaaaacagccatctacccttgattatctagaaagacttggtaatgatggtcagttccttttagatttcagaaaatcaaatgatgacctaaatttcccttaatttgcaaatacagtagtaattaaggtacatctctaaagtggagcacttacaccaggctctaagattcactttgaggtggaacttaaaaccagtgtactgtatgtatgcattggtaatagctacttttgcttcatagcttcataccaacaaaatatatttattagaatagtatgaaagtactggaggagctgaaagaaaaacacccaaggctgggcgtggtggcacacgcctgtaatcccagcactttgggaggccgaggcaggtggatcacctgaggttgggagttggagaccagcttgaccaacatggagaaaccccgtctctactaaaaatacaaaattggccgggcgtggtggcgcatgcctgtaatcccagctactcgggagggtgaggcaggagaattgcttgaccctgggaggtggaggttgtggtgagctaagatcgtgccattgcactccagccttggcaacaagagcgaaactccgtctcaaaaaaaaaaaataaaacaacacccagatagatacacatactccttcagacttacagacctaagctgcatttatggggtagtgatgaggtttagaacatatacatattttgttaaaattccccagatgattcttggtatgaacgactatattataaattttaagatgtacttagaaatccttaagacatctagccccgtctctaatagacaacacatttatattgcagatattacttttttttcagtttatgaccaggtatttatgaaggactattggcagggaaaatatgaatatgttaactttagcttatggcatcaatttactaaggaacaacaggctcaccaactgatgtcaaacataaaaacccccacatcagtctgatacgatatggtactactttgaatctgttactagtaccatcttgacagaggatacatgctcccaaaacgtttgttaccacacttaaaaatcactgccatcattaagcatcagtttcaaaattatagccattcatgatttactttttccagatgactatcattattctagtcctttgaatttgtaaggggaaaaaaaacaaaaacaaaaacttacgatgcacttttctccagcacatcagatttcaaattgaaaattaaagacatgctatggtaatgcacttgctagtactacacactttgtacaacaaaaaacagaggcaagaaacaacggaaagagaaaagccttcctttgttggcccttaaactgagtcaagatctgaaatgtagagatgatctctgacgatacctgtatgttcttattgtgtaaataaaattgctggtatgaaatgacactaaagtttgtcaaaaaatgaattcttaacttttctcccagagaaagggagacaaaaggagctttttaatacctaatctactttggaacataaccgtatagag
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10059 -> Molecular function: GO:0003924 [GTPase activity] evidence: IEA GeneID:10059 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:10059 -> Molecular function: GO:0005525 [GTP binding] evidence: IEA GeneID:10059 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI GeneID:10059 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI GeneID:10059 -> Biological process: GO:0000266 [mitochondrial fission] evidence: IMP GeneID:10059 -> Biological process: GO:0003374 [dynamin polymerization involved in mitochondrial fission] evidence: IDA GeneID:10059 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:10059 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS GeneID:10059 -> Biological process: GO:0010821 [regulation of mitochondrion organization] evidence: IMP GeneID:10059 -> Biological process: GO:0016559 [peroxisome fission] evidence: IDA GeneID:10059 -> Biological process: GO:0016559 [peroxisome fission] evidence: IMP GeneID:10059 -> Biological process: GO:0043653 [mitochondrial fragmentation involved in apoptotic process] evidence: IMP GeneID:10059 -> Biological process: GO:0050714 [positive regulation of protein secretion] evidence: IDA GeneID:10059 -> Biological process: GO:0051289 [protein homotetramerization] evidence: IDA GeneID:10059 -> Biological process: GO:0070584 [mitochondrion morphogenesis] evidence: IMP GeneID:10059 -> Biological process: GO:0090141 [positive regulation of mitochondrial fission] evidence: TAS GeneID:10059 -> Biological process: GO:0090149 [membrane fission involved in mitochondrial fission] evidence: IDA GeneID:10059 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IMP GeneID:10059 -> Biological process: GO:1900063 [regulation of peroxisome organization] evidence: IMP GeneID:10059 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IMP GeneID:10059 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:10059 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:10059 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: IDA GeneID:10059 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:10059 -> Cellular component: GO:0005777 [peroxisome] evidence: IDA GeneID:10059 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA GeneID:10059 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:10059 -> Cellular component: GO:0005874 [microtubule] evidence: IDA GeneID:10059 -> Cellular component: GO:0012505 [endomembrane system] evidence: IEA GeneID:10059 -> Cellular component: GO:0043234 [protein complex] evidence: IDA GeneID:10059 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IDA
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