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] See more...

Aliases for MTFP1 Gene

Aliases for MTFP1 Gene

  • Mitochondrial Fission Process 1 2 3 5
  • MTP18 2 3 4
  • Mitochondrial Fission Process Protein 1 3 4
  • Mitochondrial 18 KDa Protein 3 4
  • HSPC242 2 3
  • Mitochondrial Fission Protein MTP18 3
  • Mitochondrial Protein 18 KDa 3
  • MTFP1 5

External Ids for MTFP1 Gene

Previous GeneCards Identifiers for MTFP1 Gene

  • GC22P013782
  • GC22P030822

Summaries for MTFP1 Gene

Entrez Gene Summary for MTFP1 Gene

  • 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]

GeneCards Summary for MTFP1 Gene

MTFP1 (Mitochondrial Fission Process 1) is a Protein Coding gene. Diseases associated with MTFP1 include Corneal Dystrophy And Perceptive Deafness and Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy.

UniProtKB/Swiss-Prot Summary for MTFP1 Gene

  • 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 Gene

Additional gene information for MTFP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTFP1 Gene

Genomics for MTFP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTFP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J030415 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -4.2 -4191 11.7 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TEAD4 PRDM10 ZNF629 REST RNF215 ENSG00000272689 ENSG00000273350 MTFP1 RF00026-674 RNU6-564P TUG1 SEC14L3 SF3A1 CASTOR1
GH22J030201 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 -217.9 -217894 12.3 HNRNPL GATAD2A ATF7 TEAD4 PRDM10 ZNF629 TFE3 SOX13 IKZF1 NFKBIZ LOC105372988 TUG1 EWSR1 MORC2 PES1 OSM SF3A1 HORMAD2-AS1 LOC91370 MTMR3
GH22J030234 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.3 -178.9 -178909 24.6 HNRNPL CREB1 CTCF PRDM10 ZNF629 ZNF512 IKZF1 KDM1A ZNF692 LARP7 LIF LOC91370 TUG1 SF3A1 EWSR1 MORC2 PES1 RNF215 TBC1D10A THOC5
GH22J029443 Enhancer 0.5 Ensembl 4.2 -981.7 -981722 1 PRDM10 ZNF341 ZBTB40 ZNF366 ZFP37 RFPL1S THOC5 NIPSNAP1 MTFP1 FJ601684-298 RFPL4AP6 AP1B1 NEFH L13304-023
GH22J030678 Enhancer 0.2 Ensembl 4.5 +253.8 253778 1.2 SLC35E4 ENSG00000249590 SEC14L2 MTFP1 HSALNG0134914 piR-34935-014 DUSP18 OSBP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTFP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTFP1

Genomic Locations for MTFP1 Gene

Genomic Locations for MTFP1 Gene
chr22:30,425,623-30,429,054
(GRCh38/hg38)
Size:
3,432 bases
Orientation:
Plus strand
chr22:30,821,518-30,825,045
(GRCh37/hg19)
Size:
3,528 bases
Orientation:
Plus strand

Genomic View for MTFP1 Gene

Genes around MTFP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTFP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTFP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTFP1 Gene

Proteins for MTFP1 Gene

  • Protein details for MTFP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UDX5-MTFP1_HUMAN
    Recommended name:
    Mitochondrial fission process protein 1
    Protein Accession:
    Q9UDX5
    Secondary Accessions:
    • A6NFQ5
    • Q9H3K1
    • Q9P0N6

    Protein attributes for MTFP1 Gene

    Size:
    166 amino acids
    Molecular mass:
    18010 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF36162.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG43136.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for MTFP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTFP1 Gene

Post-translational modifications for MTFP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTFP1 Gene

No data available for DME Specific Peptides for MTFP1 Gene

Domains & Families for MTFP1 Gene

Gene Families for MTFP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MTFP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTFP1 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial 18 kDa protein (MTFP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UDX5

UniProtKB/Swiss-Prot:

MTFP1_HUMAN :
  • Belongs to the MTFP1 family.
Family:
  • Belongs to the MTFP1 family.
genes like me logo Genes that share domains with MTFP1: view

Function for MTFP1 Gene

Molecular function for MTFP1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Expression is regulated by the phosphatidylinositol (PI) 3-kinase pathway.

Phenotypes From GWAS Catalog for MTFP1 Gene

genes like me logo Genes that share phenotypes with MTFP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTFP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTFP1 Gene

Localization for MTFP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTFP1 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTFP1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
cytoskeleton 2
peroxisome 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005743 mitochondrial inner membrane IEA,IDA 15985469
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MTFP1: view

Pathways & Interactions for MTFP1 Gene

PathCards logo

SuperPathways for MTFP1 Gene

No Data Available

Interacting Proteins for MTFP1 Gene

Gene Ontology (GO) - Biological Process for MTFP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA,IMP 15985469
GO:0006915 apoptotic process IEA --
GO:0007005 mitochondrion organization IEA --
GO:0014850 response to muscle activity IEA --
genes like me logo Genes that share ontologies with MTFP1: view

No data available for Pathways by source and SIGNOR curated interactions for MTFP1 Gene

Drugs & Compounds for MTFP1 Gene

No Compound Related Data Available

Transcripts for MTFP1 Gene

mRNA/cDNA for MTFP1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTFP1

Alternative Splicing Database (ASD) splice patterns (SP) for MTFP1 Gene

No ASD Table

Relevant External Links for MTFP1 Gene

GeneLoc Exon Structure for
MTFP1

Expression for MTFP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTFP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTFP1 Gene

This gene is overexpressed in Retina (16.6), Breast (9.0), and Tlymphocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTFP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTFP1

SOURCE GeneReport for Unigene cluster for MTFP1 Gene:

Hs.713636

Evidence on tissue expression from TISSUES for MTFP1 Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Liver(4.3)
  • Bone marrow(4.1)
  • Lung(3.1)
  • Skin(2.5)
  • Muscle(2.4)
  • Eye(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with MTFP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTFP1 Gene

Orthologs for MTFP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTFP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTFP1 30 31
  • 98.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTP18 31
  • 91 (a)
OneToOne
MTFP1 30
  • 87.95 (n)
Mouse
(Mus musculus)
Mammalia Mtfp1 30 17 31
  • 86.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtfp1 30
  • 86.87 (n)
Dog
(Canis familiaris)
Mammalia MTFP1 30 31
  • 86.75 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTFP1 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTFP1 30
  • 73.08 (n)
Lizard
(Anolis carolinensis)
Reptilia MTFP1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtfp1 30
  • 67.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtfp1 30
  • 73.97 (n)
MTFP1 31
  • 53 (a)
OneToOne
zgc63910 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4958 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7772 30 31
  • 57.31 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001603 30
  • 55.63 (n)
Worm
(Caenorhabditis elegans)
Secernentea mtp-18 30 31
  • 51.36 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for MTFP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTFP1 Gene

ENSEMBL:
Gene Tree for MTFP1 (if available)
TreeFam:
Gene Tree for MTFP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTFP1: view image

Paralogs for MTFP1 Gene

No data available for Paralogs for MTFP1 Gene

Variants for MTFP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTFP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
719271 Benign: not provided 30,427,161(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MTFP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MTFP1 Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv829171 CNV loss 20364138
nsv953068 CNV deletion 24416366

Variation tolerance for MTFP1 Gene

Residual Variation Intolerance Score: 56.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTFP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTFP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTFP1 Gene

Disorders for MTFP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MTFP1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search MTFP1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MTFP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTFP1 Gene

Publications for MTFP1 Gene

  1. Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis. (PMID: 15155745) Tondera D … Kaufmann J (The Journal of biological chemistry 2004) 2 3 4 23
  2. The mitochondrial protein MTP18 contributes to mitochondrial fission in mammalian cells. (PMID: 15985469) Tondera D … Santel A (Journal of cell science 2005) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4

Products for MTFP1 Gene

Sources for MTFP1 Gene