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

    Gene ID: 51537, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    See MTFP1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30425768..30429054)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30889111..30892397)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001003704.3NP_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:2055
      MTP18; Mitochondrial 18 KDa protein (MTP18)
    2. NM_016498.5NP_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:20146
      MTP18; Mitochondrial 18 KDa protein (MTP18)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)