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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
//

Annotations:

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

by @meso_cacase at DBCLS
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