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    MTFR1 mitochondrial fission regulator 1 [ Homo sapiens (human) ]

    Gene ID: 9650, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MTFR1provided by HGNC
    Official Full Name
    mitochondrial fission regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:29510
    See related
    Ensembl:ENSG00000066855 MIM:619414; AllianceGenome:HGNC:29510
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHPPR; FAM54A2
    Summary
    This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in kidney (RPKM 10.4), testis (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTFR1 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65643889..65778598)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66069548..66197575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66556124..66659848)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66472804-66473503 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:66528344-66529126 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:66546245-66546867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27461 Neighboring gene armadillo repeat containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19245 Neighboring gene MPRA-validated peak7054 silencer Neighboring gene uncharacterized LOC107986949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27463 Neighboring gene phosphodiesterase 7A Neighboring gene MPRA-validated peak7055 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66752860-66753429 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753430-66753998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66753999-66754568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:66754569-66755137 Neighboring gene MPRA-validated peak7056 silencer Neighboring gene PDE7A divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66842558-66843076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:66843077-66843595 Neighboring gene uncharacterized LOC107986950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27469 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:66862529-66863728

    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. Overexpression of MTFR1 promotes cancer progression and drug-resistance on cisplatin and is related to the immune microenvironment in lung adenocarcinoma. Li QY, et al. Aging (Albany NY), 2024 Jan 2. PMID 38170222, Free PMC Article
    2. Chondrocyte protein with a poly-proline region is a novel protein expressed by chondrocytes in vitro and in vivo. Tonachini L, et al. Biochim Biophys Acta, 2002 Sep 27. PMID 12359332
    3. miR-324-5p protects against oxidative stress-induced endothelial progenitor cell injury by targeting Mtfr1. Chen P, et al. J Cell Physiol, 2019 Dec. PMID 31066044
    4. Impaired expression of genes coding for reactive oxygen species scavenging enzymes in testes of Mtfr1/Chppr-deficient mice. Monticone M, et al. Reproduction, 2007 Sep. PMID 17709566
    5. Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission. Tonachini L, et al. J Cell Physiol, 2004 Dec. PMID 15389597

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Overexpression of MTFR1 promotes cancer progression and drug-resistance on cisplatin and is related to the immune microenvironment in lung adenocarcinoma.
      Title: Overexpression of MTFR1 promotes cancer progression and drug-resistance on cisplatin and is related to the immune microenvironment in lung adenocarcinoma.
    2. Our results suggested that miR-324-5p protects against oxidative stress-induced endothelial progenitor cells injury by regulating Mtfr1.
      Title: miR-324-5p protects against oxidative stress-induced endothelial progenitor cell injury by targeting Mtfr1.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. reports full-length mRNA sequence of human MTFR1.
      Title: Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission.
    5. reports the role of mouse Mtfr1 in protecting cells from reactive oxygen species using Mtfr1-deficient mice.
      Title: Impaired expression of genes coding for reactive oxygen species scavenging enzymes in testes of Mtfr1/Chppr-deficient mice.
    6. presents partial sequence of a human homolog of chicken MTFR1
      Title: Chondrocyte protein with a poly-proline region is a novel protein expressed by chondrocytes in vitro and in vivo.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0009

    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 aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aerobic respiration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial fission regulator 1
    Names
    chondrocyte protein with a poly-proline region

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_047112.2 RefSeqGene

      Range
      5847..71675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145838.2 → NP_001139310.1  mitochondrial fission regulator 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC055822
      Consensus CDS
      CCDS55240.1
      UniProtKB/TrEMBL
      H0YBZ4
      Related
      ENSP00000391502.2, ENST00000458689.2
      Conserved Domains (1) summary
      pfam05308
      Location:25 → 218
      Mito_fiss_reg; Mitochondrial fission regulator

    2. NM_001145839.2 → NP_001139311.1  mitochondrial fission regulator 1 isoform 3

      See identical proteins and their annotated locations for NP_001139311.1

      Status: REVIEWED

      Source sequence(s)
      AC055822, AK304716
      UniProtKB/TrEMBL
      B4E3G8
      Related
      ENST00000424808.6
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 251
      Mito_fiss_reg; Mitochondrial fission regulator

    3. NM_001413068.1 → NP_001399997.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    4. NM_001413069.1 → NP_001399998.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    5. NM_001413070.1 → NP_001399999.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    6. NM_001413071.1 → NP_001400000.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    7. NM_001413073.1 → NP_001400002.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    8. NM_001413074.1 → NP_001400003.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    9. NM_001413075.1 → NP_001400004.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    10. NM_001413076.1 → NP_001400005.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    11. NM_001413077.1 → NP_001400006.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    12. NM_001413078.1 → NP_001400007.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    13. NM_001413079.1 → NP_001400008.1  mitochondrial fission regulator 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC055822

    14. NM_001413080.1 → NP_001400009.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    15. NM_001413081.1 → NP_001400010.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    16. NM_001413082.1 → NP_001400011.1  mitochondrial fission regulator 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    17. NM_001413083.1 → NP_001400012.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    18. NM_001413084.1 → NP_001400013.1  mitochondrial fission regulator 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC055822

    19. NM_014637.4 → NP_055452.3  mitochondrial fission regulator 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055452.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC055822, AW157714, BC036116
      Consensus CDS
      CCDS6182.1
      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7
      UniProtKB/TrEMBL
      H0YBZ4
      Related
      ENSP00000262146.4, ENST00000262146.9
      Conserved Domains (1) summary
      pfam05308
      Location:24 → 251
      Mito_fiss_reg; Mitochondrial fission regulator

    RNA

    1. NR_182100.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC055822

    2. NR_182101.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC055822

    3. NR_182102.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC055822

    4. NR_182103.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC055822

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      65643889..65778598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716484.3 → XP_006716547.2  mitochondrial fission regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_006716547.2

      Conserved Domains (1) summary
      pfam05308
      Location:24 → 251
      Mito_fiss_reg; Mitochondrial fission regulator

    2. XM_047422463.1 → XP_047278419.1  mitochondrial fission regulator 1 isoform X1

    3. XM_011517626.3 → XP_011515928.1  mitochondrial fission regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_011515928.1

      Conserved Domains (1) summary
      pfam05308
      Location:24 → 251
      Mito_fiss_reg; Mitochondrial fission regulator

    4. XM_047422466.1 → XP_047278422.1  mitochondrial fission regulator 1 isoform X4

      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    5. XM_011517627.4 → XP_011515929.1  mitochondrial fission regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_011515929.1

      Conserved Domains (1) summary
      pfam05308
      Location:24 → 251
      Mito_fiss_reg; Mitochondrial fission regulator

    6. XM_011517628.3 → XP_011515930.1  mitochondrial fission regulator 1 isoform X2

      Conserved Domains (1) summary
      pfam05308
      Location:45 → 238
      Mito_fiss_reg; Mitochondrial fission regulator

    7. XM_047422464.1 → XP_047278420.1  mitochondrial fission regulator 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      66069548..66197575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361558.1 → XP_054217533.1  mitochondrial fission regulator 1 isoform X1

    2. XM_054361557.1 → XP_054217532.1  mitochondrial fission regulator 1 isoform X1

    3. XM_054361562.1 → XP_054217537.1  mitochondrial fission regulator 1 isoform X4

      UniProtKB/Swiss-Prot
      E7EP84, Q15390, Q6IB94, Q7Z669, Q86XH5, Q8IVD7

    4. XM_054361559.1 → XP_054217534.1  mitochondrial fission regulator 1 isoform X1

    5. XM_054361560.1 → XP_054217535.1  mitochondrial fission regulator 1 isoform X2

    6. XM_054361561.1 → XP_054217536.1  mitochondrial fission regulator 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15390.2 GenPept UniProtKB/Swiss-Prot:Q15390

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