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    MTFP1 mitochondrial fission process 1 [ Homo sapiens (human) ]

    Gene ID: 51537, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MTFP1provided by HGNC
    Official Full Name
    mitochondrial fission process 1provided by HGNC
    Primary source
    HGNC:HGNC:26945
    See related
    Ensembl:ENSG00000242114 MIM:610235; AllianceGenome:HGNC:26945
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTP18; HSPC242
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30425768..30429054)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30889111..30892397)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30821756..30825041)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13612 Neighboring gene SEC14 like lipid binding 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30797780-30798280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30798281-30798781 Neighboring gene Sharpr-MPRA regulatory region 13809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30817842-30818421 Neighboring gene RNA, U6 small nuclear 564, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30822016-30822574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30822575-30823134 Neighboring gene uncharacterized LOC105372990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30831805-30832326 Neighboring gene SLC39A1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The inner mitochondrial membrane fission protein MTP18 serves as a mitophagy receptor to prevent apoptosis in oral cancer. Panigrahi DP, et al. J Cell Sci, 2023 Jul 1. PMID 37313742
    2. MTFP1 overexpression promotes the growth of oral squamous cell carcinoma by inducing ROS production. Xiao T, et al. Cell Biol Int, 2020 Mar. PMID 31814213
    3. MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration, and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma. Pan S, et al. Mol Biotechnol, 2023 Jun. PMID 36380260
    4. The mitochondrial protein MTP18 contributes to mitochondrial fission in mammalian cells. Tondera D, et al. J Cell Sci, 2005 Jul 15. PMID 15985469
    5. Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis. Tondera D, et al. J Biol Chem, 2004 Jul 23. PMID 15155745

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
      Title: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
    2. The inner mitochondrial membrane fission protein MTP18 serves as a mitophagy receptor to prevent apoptosis in oral cancer.
      Title: The inner mitochondrial membrane fission protein MTP18 serves as a mitophagy receptor to prevent apoptosis in oral cancer.
    3. MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration, and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma.
      Title: MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration, and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma.
    4. MTFP1 overexpression promotes the growth of oral squamous cell carcinoma by inducing ROS production.
      Title: MTFP1 overexpression promotes the growth of oral squamous cell carcinoma by inducing ROS production.
    5. the results suggest that miR-668 is induced via HIF-1 in ischemic AKI and that, upon induction, miR-668 represses MTP18 to preserve mitochondrial dynamics for renal tubular cell survival and kidney protection.
      Title: MicroRNA-668 represses MTP18 to preserve mitochondrial dynamics in ischemic acute kidney injury.
    6. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. MTP18 mRNA as well as protein expression is dependent on PI 3-kinase activity.
      Title: Knockdown of MTP18, a novel phosphatidylinositol 3-kinase-dependent protein, affects mitochondrial morphology and induces apoptosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial fission process protein 1
    Names
    mitochondrial 18 kDa protein
    mitochondrial fission protein MTP18
    mitochondrial protein 18 kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001003704.3 → NP_001003704.1  mitochondrial fission process protein 1 isoform b

      See identical proteins and their annotated locations for NP_001003704.1

      Status: VALIDATED

      Description
      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.
      Source sequence(s)
      BC001608, BQ187590, CB107806
      Consensus CDS
      CCDS33634.1
      UniProtKB/Swiss-Prot
      Q9UDX5
      Related
      ENSP00000347267.4, ENST00000355143.8
      Conserved Domains (1) summary
      pfam10558
      Location:20 → 55
      MTP18; Mitochondrial 18 KDa protein (MTP18)

    2. NM_016498.5 → NP_057582.2  mitochondrial fission process protein 1 isoform a

      See identical proteins and their annotated locations for NP_057582.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC001608, BC046132, CB107806
      Consensus CDS
      CCDS33635.1
      UniProtKB/Swiss-Prot
      A6NFQ5, Q9H3K1, Q9P0N6, Q9UDX5
      Related
      ENSP00000266263.5, ENST00000266263.10
      Conserved Domains (1) summary
      pfam10558
      Location:20 → 146
      MTP18; Mitochondrial 18 KDa protein (MTP18)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30425768..30429054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30889111..30892397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UDX5.1 GenPept UniProtKB/Swiss-Prot:Q9UDX5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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