2024-04-18 15:44:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016498 1298 bp mRNA linear PRI 08-JUL-2013 DEFINITION Homo sapiens mitochondrial fission process 1 (MTFP1), transcript variant 1, mRNA. ACCESSION NM_016498 VERSION NM_016498.4 GI:323639474 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 1298) AUTHORS Eriksson,N., Benton,G.M., Do,C.B., Kiefer,A.K., Mountain,J.L., Hinds,D.A., Francke,U. and Tung,J.Y. TITLE Genetic variants associated with breast size also influence breast cancer risk JOURNAL BMC Med. Genet. 13, 53 (2012) PUBMED 22747683 REMARK Publication Status: Online-Only REFERENCE 2 (bases 1 to 1298) AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. TITLE Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression JOURNAL PLoS ONE 5 (9), E12862 (2010) PUBMED 20877624 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 3 (bases 1 to 1298) AUTHORS Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N., Yoshida,H., Satoh,K., Aoyagi,Y., Nishigaki,Y., Nozawa,Y. and Yamada,Y. TITLE Association of genetic variants with chronic kidney disease in individuals with different lipid profiles JOURNAL Int. J. Mol. Med. 24 (2), 233-246 (2009) PUBMED 19578796 REMARK GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 4 (bases 1 to 1298) AUTHORS Chen,S.N., Cilingiroglu,M., Todd,J., Lombardi,R., Willerson,J.T., Gotto,A.M. Jr., Ballantyne,C.M. and Marian,A.J. TITLE Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis JOURNAL BMC Med. Genet. 10, 111 (2009) PUBMED 19878569 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 5 (bases 1 to 1298) AUTHORS Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M., Wijmenga,C., Feskens,E.J. and Boer,J.M. TITLE Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations JOURNAL J. Lipid Res. 49 (12), 2582-2589 (2008) PUBMED 18660489 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 1298) AUTHORS Tondera,D., Czauderna,F., Paulick,K., Schwarzer,R., Kaufmann,J. and Santel,A. TITLE The mitochondrial protein MTP18 contributes to mitochondrial fission in mammalian cells JOURNAL J. Cell. Sci. 118 (PT 14), 3049-3059 (2005) PUBMED 15985469 REFERENCE 7 (bases 1 to 1298) AUTHORS Cheng,J., Kapranov,P., Drenkow,J., Dike,S., Brubaker,S., Patel,S., Long,J., Stern,D., Tammana,H., Helt,G., Sementchenko,V., Piccolboni,A., Bekiranov,S., Bailey,D.K., Ganesh,M., Ghosh,S., Bell,I., Gerhard,D.S. and Gingeras,T.R. TITLE Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution JOURNAL Science 308 (5725), 1149-1154 (2005) PUBMED 15790807 REFERENCE 8 (bases 1 to 1298) AUTHORS Tondera,D., Santel,A., Schwarzer,R., Dames,S., Giese,K., Klippel,A. and Kaufmann,J. TITLE Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis JOURNAL J. Biol. Chem. 279 (30), 31544-31555 (2004) PUBMED 15155745 REMARK GeneRIF: MTP18 mRNA as well as protein expression is dependent on PI 3-kinase activity. REFERENCE 9 (bases 1 to 1298) AUTHORS Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A., Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y., Huckle,E.J., Beare,D.M. and Dunham,I. TITLE A genome annotation-driven approach to cloning the human ORFeome JOURNAL Genome Biol. 5 (10), R84 (2004) PUBMED 15461802 REFERENCE 10 (bases 1 to 1298) AUTHORS Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R., Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J., Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J., Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S., Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et al. TITLE The DNA sequence of human chromosome 22 JOURNAL Nature 402 (6761), 489-495 (1999) PUBMED 10591208 REMARK Erratum:[Nature 2000 Apr 20;404(6780):904] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CB107806.1, BC046132.1 and BC001608.1. On Feb 18, 2011 this sequence version replaced gi:51243054. Summary: MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). 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 :: BC030989.2, AF151076.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-210 CB107806.1 1-210 211-942 BC046132.1 1-732 943-1298 BC001608.1 769-1124 FEATURES Location/Qualifiers source 1..1298 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="22" /map="22q" gene 1..1298 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /note="mitochondrial fission process 1" /db_xref="GeneID:51537" /db_xref="HGNC:26945" /db_xref="HPRD:17612" /db_xref="MIM:610235" exon 1..324 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="alignment:Splign:1.39.8" variation 9 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:188725094" misc_feature 45..47 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /note="upstream in-frame stop codon" variation 56 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="c" /db_xref="dbSNP:374983915" variation 97 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:112209450" variation 196 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:369330304" variation 228..229 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="" /replace="g" /db_xref="dbSNP:371460788" variation 237 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:73390246" CDS 258..758 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /note="isoform a is encoded by transcript variant 1; mitochondrial protein 18 kDa; mitochondrial 18 kDa protein; mitochondrial fission process protein 1; mitochondrial fission protein MTP18" /codon_start=1 /product="mitochondrial fission process protein 1 isoform a" /protein_id="NP_057582.2" /db_xref="GI:51243055" /db_xref="CCDS:CCDS33635.1" /db_xref="GeneID:51537" /db_xref="HGNC:26945" /db_xref="HPRD:17612" /db_xref="MIM:610235" /translation="
MSEPQPRGAERDLYRDTWVRYLGYANEVGEAFRSLVPAAVVWLSYGVASSYVLADAIDKGKKAGEVPSPEAGRSARVTVAVVDTFVWQALASVAIPGFTINRVCAASLYVLGTATRWPLAVRKWTTTALGLLTIPIIIHPIDRSVDFLLDSSLRKLYPTVGKPSSS
" misc_feature 315..704 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /note="Mitochondrial 18 KDa protein (MTP18); Region: MTP18; pfam10558" /db_xref="CDD:192627" misc_feature 357..419 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1); transmembrane region" misc_feature 495..557 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1); transmembrane region" misc_feature 642..704 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q9UDX5.1); transmembrane region" exon 325..452 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="alignment:Splign:1.39.8" variation 329 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:376065643" variation 344 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="c" /db_xref="dbSNP:138977455" variation 358 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:149417550" variation 373..374 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="" /replace="ggggg" /replace="gggggggg" /db_xref="dbSNP:141372205" variation 396 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:369159462" variation 403 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="g" /replace="t" /db_xref="dbSNP:373693838" variation 433 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:145380632" exon 453..685 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="alignment:Splign:1.39.8" variation 475 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="g" /replace="t" /db_xref="dbSNP:144789689" variation 491 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:5753130" variation 513 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="g" /replace="t" /db_xref="dbSNP:201155573" variation 516 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:375980065" variation 525 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:200292962" variation 543 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:75751390" variation 545 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:9606726" variation 562 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:147279727" variation 583 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:140799501" variation 602 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:144658742" variation 604 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:200868424" variation 618 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:181729673" variation 622 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:368585265" variation 638 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:375879952" variation 639 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:112718421" variation 640 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:200231697" variation 641 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:199831786" variation 647 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:201316604" variation 660 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="c" /db_xref="dbSNP:200787514" variation 662 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:150823885" variation 666 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:369280556" variation 674 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:75687289" exon 686..1278 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="alignment:Splign:1.39.8" variation 689 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:199553916" variation 717 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:114838293" variation 718 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:369745248" variation 723 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:1046176" variation 725 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:200885673" variation 764 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:199900003" variation 773 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:373617132" variation 800 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:149947053" variation 803 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:200697149" variation 845 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:145009856" variation 858 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:114347202" variation 882 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:143355158" variation 896..897 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="" /replace="a" /db_xref="dbSNP:149958301" variation 931 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:45513091" variation 934 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:1062997" variation 943 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:201572216" variation 992 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:13058535" STS 1044..1223 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /standard_name="RH77730" /db_xref="UniSTS:15727" variation 1087 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:11558623" variation 1156 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:184460594" variation 1176 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:11704308" variation 1208 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:144639758" variation 1254 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="g" /replace="t" /db_xref="dbSNP:140697344" variation 1278 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:3177408" ORIGIN
actcagtcctgggagcgattagcgccaacagctcagagaaaacgtgacgaaaaccagtctgtaaaacccgagcctgggagaggggcttcggtgcgcggggggaatttgcagacgctccctgctggcggagatttcctgacctgtccttcggcgcgggactttcggcgggtcccggccgggcagacccaagtgccggcggcggagactgcagtggagccagtaccggctgtagtggccggggccgtggcgggagagtcatgtcagagccgcagccgcggggcgcagagcgcgatctctaccgggacacgtgggtgcgatacctgggctatgccaatgaggtgggcgaggctttccgctctcttgtgccagcggcggtggtgtggctgagctatggcgtggccagctcctacgtgctggcggatgccattgacaaaggcaagaaggctggagaggtgcccagccctgaagcaggccgcagcgccagggtgactgtggctgtggtggacacctttgtatggcaggctctagcctctgtggccattccgggcttcaccatcaaccgcgtgtgtgctgcctctctctatgtcctgggcactgccacccgctggcccctggctgtccgcaagtggaccaccaccgcgcttgggctgttgaccatccccatcattatccaccccattgacaggtcggtggatttcctcctggactccagcctgcgcaagctctacccaacagtggggaagcccagctcctcctgatcatactctggtacctggcctgtgcatcggcctcctgcttcatgtcaacctcctactcctgccagggaatgtggacacctggctccctggtgtccaaagaccctggcacctgggtgggtttgagctggacagaagcttagagacaaaggcttcaagaagcagtggctgcagggagtcacagaagggcaggacctgaacgctgtctgcttccctggaatccaagatgctgagtggaagtggaccctgggtgggcccggccctgtctttttcaggaaaattacatcctcccatggaggatgagagactgaggctcagggagggcaaggaataggcccaagatcacttggcaagctgggcacccaggacccccaggtgcttgacagagtcaccccatggtggtatggctgaacaaggagcggcagacaactcagggagaaactcaggagtgcagtaccagggacacctcaggacagattctctggccaggcccttccctgacccaataaatcctgaagaggttaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:51537 -> Biological process: GO:0000266 [mitochondrial fission] evidence: IMP GeneID:51537 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:51537 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: IDA GeneID:51537 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
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