2024-03-29 16:31:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001003704 1065 bp mRNA linear PRI 08-JUL-2013 DEFINITION Homo sapiens mitochondrial fission process 1 (MTFP1), transcript variant 2, mRNA. ACCESSION NM_001003704 VERSION NM_001003704.2 GI:323641475 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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 1065) 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, BQ187590.1 and BC001608.1. On Feb 18, 2011 this sequence version replaced gi:51243056. 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 (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to 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 :: BQ642342.1, BE737309.1 [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 1-218 CB107806.1 1-218 219-731 BQ187590.1 1-513 732-1065 BC001608.1 791-1124 FEATURES Location/Qualifiers source 1..1065 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="22" /map="22q" gene 1..1065 /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..665 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /note="isoform b is encoded by transcript variant 2; 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 b" /protein_id="NP_001003704.1" /db_xref="GI:51243057" /db_xref="CCDS:CCDS33634.1" /db_xref="GeneID:51537" /db_xref="HGNC:26945" /db_xref="HPRD:17612" /db_xref="MIM:610235" /translation="
MSEPQPRGAERDLYRDTWVRYLGYANEVGEAFRSLVPAAVVWLSYGVASSYVLADAIDKGKKAGEVGGFPPGLQPAQALPNSGEAQLLLIILWYLACASASCFMSTSYSCQGMWTPGSLVSKDPGTWVGLSWTEA
" misc_feature 315..>476 /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" 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..1045 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /inference="alignment:Splign:1.39.8" variation 456 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:199553916" variation 484 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:114838293" variation 485 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:369745248" variation 490 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:1046176" variation 492 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:200885673" variation 531 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:199900003" variation 540 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:373617132" variation 567 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:149947053" variation 570 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:200697149" variation 612 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="g" /db_xref="dbSNP:145009856" variation 625 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:114347202" variation 649 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:143355158" variation 663..664 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="" /replace="a" /db_xref="dbSNP:149958301" variation 698 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:45513091" variation 701 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:1062997" variation 710 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:201572216" variation 759 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:13058535" STS 811..990 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /standard_name="RH77730" /db_xref="UniSTS:15727" variation 854 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="c" /replace="t" /db_xref="dbSNP:11558623" variation 923 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:184460594" variation 943 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:11704308" variation 975 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="g" /db_xref="dbSNP:144639758" variation 1021 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="g" /replace="t" /db_xref="dbSNP:140697344" variation 1045 /gene="MTFP1" /gene_synonym="HSPC242; MTP18" /replace="a" /replace="t" /db_xref="dbSNP:3177408" ORIGIN
actcagtcctgggagcgattagcgccaacagctcagagaaaacgtgacgaaaaccagtctgtaaaacccgagcctgggagaggggcttcggtgcgcggggggaatttgcagacgctccctgctggcggagatttcctgacctgtccttcggcgcgggactttcggcgggtcccggccgggcagacccaagtgccggcggcggagactgcagtggagccagtaccggctgtagtggccggggccgtggcgggagagtcatgtcagagccgcagccgcggggcgcagagcgcgatctctaccgggacacgtgggtgcgatacctgggctatgccaatgaggtgggcgaggctttccgctctcttgtgccagcggcggtggtgtggctgagctatggcgtggccagctcctacgtgctggcggatgccattgacaaaggcaagaaggctggagaggtcggtggatttcctcctggactccagcctgcgcaagctctacccaacagtggggaagcccagctcctcctgatcatactctggtacctggcctgtgcatcggcctcctgcttcatgtcaacctcctactcctgccagggaatgtggacacctggctccctggtgtccaaagaccctggcacctgggtgggtttgagctggacagaagcttagagacaaaggcttcaagaagcagtggctgcagggagtcacagaagggcaggacctgaacgctgtctgcttccctggaatccaagatgctgagtggaagtggaccctgggtgggcccggccctgtctttttcaggaaaattacatcctcccatggaggatgagagactgaggctcagggagggcaaggaataggcccaagatcacttggcaagctgggcacccaggacccccaggtgcttgacagagtcaccccatggtggtatggctgaacaaggagcggcagacaactcagggagaaactcaggagtgcagtaccagggacacctcaggacagattctctggccaggcccttccctgacccaataaatcctgaagaggttaaaaaaaaaaaaaaaaaaaa
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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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