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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTFP1 Gene

protein-coding   GIFtS: 41
GCID: GC22P030822

mitochondrial fission process 1

 Explore 4 diseases affiliated with
MTFP1 via our new
 Human Malady Compendium 
Biological research products
for MTFP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mitochondrial Fission Process 11 2     Mitochondrial Fission Process Protein 12
MTP181 2 3     Mitochondrial Fission Protein MTP182
Mitochondrial 18 KDa Protein2 3     Mitochondrial Protein 18 KDa2
HSPC2421     

External Ids:    HGNC: 269451   Entrez Gene: 515372   Ensembl: ENSG000002421147   OMIM: 6102355   UniProtKB: Q9UDX53   

Export aliases for MTFP1 gene to outside databases

Previous GC identifer: GC22P013782


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTFP1:
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)

UniProtKB/Swiss-Prot: MTFP1_HUMAN, Q9UDX5
Function: Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the
release of cytochrome c, which activates the caspase cascade and leads to apoptosis

Gene Wiki entry for MTFP1 (MTP18)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTFP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MTFP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTFP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTFP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q

MTFP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTFP1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030822:  view genomic region     (about GC identifiers)

Start:
30,821,518 bp from pter      End:
30,825,045 bp from pter
Size:
3,528 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTFP1_HUMAN, Q9UDX5 (See protein sequence)
Recommended Name: Mitochondrial fission process protein 1  
Size: 166 amino acids; 18010 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (Probable)
Sequence caution: Sequence=AAF36162.1; Type=Frameshift; Positions=Several; Sequence=AAG43136.1; Type=Frameshift;
Positions=66, 84;
Secondary accessions: A6NFQ5 Q9H3K1 Q9P0N6
Alternative splicing: 2 isoforms:  Q9UDX5-1   Q9UDX5-2   

Explore the universe of human proteins at neXtProt for MTFP1: NX_Q9UDX5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UDX5

  • MTFP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001003704.1  NP_057582.2  

    ENSEMBL proteins: 
     ENSP00000266263   ENSP00000347267   ENSP00000393954   ENSP00000383926  

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    Uscn Proteins for MTFP1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IDA15985469
    GO:0016021integral to membrane IEA--


    MTFP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MTFP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019560 Mitochondrial_18_kDa_protein_

    Graphical View of Domain Structure for InterPro Entry Q9UDX5

    ProtoNet protein and cluster: Q9UDX5

    UniProtKB/Swiss-Prot: MTFP1_HUMAN, Q9UDX5
    Similarity: Belongs to the MTFP1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MTFP1_HUMAN, Q9UDX5
    Function: Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the
    release of cytochrome c, which activates the caspase cascade and leads to apoptosis
    Induction: Expression is regulated by the phosphatidylinositol (PI) 3-kinase pathway

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTFP1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for MTFP1 (Q9UDX53 ENSP000002662634) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRF2Q9HAW03, ENSP000002206594I2D: score=1 STRING: ENSP00000220659
    CDK4P118023, ENSP000002579044I2D: score=1 STRING: ENSP00000257904
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IMP15985469
    GO:0006915apoptotic process IEA--


    MTFP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTFP1
    Search CenterWatch for drugs/clinical trials and news about MTFP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTFP1 gene (2 alternative transcripts): 
    NM_001003704.2  NM_016498.4  

    Unigene Cluster for MTFP1:

    Mitochondrial fission process 1
    Hs.713636  [show with all ESTs]
    Unigene Representative Sequence: BF214503
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266263(uc003ahw.2 uc003ahx.2) ENST00000489658 ENST00000355143
    ENST00000412752 ENST00000407550

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MTFP1:
    hsa-miR-30b*
    SwitchGear 3'UTR luciferase reporter plasmidMTFP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF060924.1 AF151076.1 AK026104.1 BC001608.1 BC009300.2 BC014446.1 BC030989.2 BC038831.2 
    BC046132.1 CR456345.1 

    11 DOTS entries:

    DT.453561  DT.91719797  DT.91890574  DT.315633  DT.120634089  DT.95173146  DT.100726535  DT.95173148 
    DT.95173149  DT.95280054  DT.120633972 

    24/195 AceView cDNA sequences (see all 195):

    AI640394 CR607289 AA953952 CR600583 CF528143 BQ889535 BC014446 AI220261 
    AA761033 AA613122 BQ187590 AI206006 AW296500 BQ184491 BM855670 BC009300 
    CB135302 AA775898 AI142521 BE312413 BI225399 BM808365 BU145885 BQ642342 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTFP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGTATGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MTFP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTFP1

    SOURCE GeneReport for Unigene cluster: Hs.713636
        SABiosciences Custom PCR Arrays for MTFP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTFP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MTFP1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtfp11 , 5 mitochondrial fission process 11, 5 86.87(n)1
    87.27(a)1
      11 (2.87 cM)5
    679001  NM_026443.41  NP_080719.21 
     40914805 
    chicken
    (Gallus gallus)
    Aves MTFP16
    Uncharacterized protein
    69(a)
    1 ↔ 1
    15(11136934-11137478)
    lizard
    (Anolis carolinensis)
    Reptilia MTFP16
    --
    67(a)
    1 ↔ 1
    GL343417.1(149208-152075)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639102 hypothetical protein MGC63910 78.09(n)   393659  BC059182.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77721 CG7772 57.31(n)
    51.08(a)
      32776  NM_133029.3  NP_573257.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mtp-181 Protein MTP-18 53.2(n)
    53.64(a)
      6418865  NM_001129709.1  NP_001123181.1 


    ENSEMBL Gene Tree for MTFP1 (if available)
    TreeFam Gene Tree for MTFP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/87 NCBI SNPs in MTFP1 are shown (see all 87    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs733902461,2
    C,--30821847(+) GTGGCC/TGGGGC 2 -- ut511Minor allele frequency- T:0.50WA 2
    rs2012115161,2
    --30821951(+) GCGACA/GGGCGC 2 -- int10--------
    rs1808534581,2
    --30822168(+) GGCATA/GCGCTC 2 -- int10--------
    rs1839674961,2
    --30822224(+) CACGCA/TCTGGC 2 -- int10--------
    rs1893869461,2
    --30822366(+) TGGCAC/TTTGGC 2 -- int10--------
    rs743686641,2
    --30822431(+) CACCTA/CATTAG 2 -- int10--------
    rs20721581,2
    C,F,O,H,--30822461(+) AAGACC/GAGGAA 2 -- int134Minor allele frequency- G:0.29EA NA NS WA CSA 4908
    rs1825321621,2
    --30822500(+) ACTCAA/GTGCTC 2 -- int10--------
    rs2000604401,2
    --30822680(+) AGCCTA/GGGAAT 2 -- int10--------
    rs1453806321,2
    C,--30822813(+) TGACAA/GAGGCA 4 K R mis10--------

    HapMap Linkage Disequilibrium report for MTFP1 (30821518 - 30825045 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MTFP1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MTFP1 for disorders           About GeneDecksing

    OMIM gene information: 610235    OMIM disorders: --

    4 diseases for MTFP1:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    atherosclerosis    cholesterol


    Export disorders for MTFP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTFP1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with MTFP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis. (PubMed id 15155745)1, 2, 3, 9 Tondera D....Kaufmann J. (2004)
    2. The mitochondrial protein MTP18 contributes to mitochondrial fission in mammalian cells. (PubMed id 15985469)1, 2, 3 Tondera D....Santel A. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    6. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    7. Genetic variants associated with breast size also infl uence breast cancer risk. (PubMed id 22747683)1 Eriksson N....Tung J.Y. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51537 HGNC: 26945 AceView: MTP18 Ensembl:ENSG00000242114 euGenes: HUgn51537
    ECgene: MTFP1 H-InvDB: MTFP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTFP1 gene:
    Search GeneIP for patents involving MTFP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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