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

Gene ID: 9650, updated on 3-Apr-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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Location:
8q13.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65643889..65778598)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66069548..66197575)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66556969..66622798)

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. 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
  2. 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
  3. 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
  4. 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
  5. Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. Steffen J, et al. Mol Biol Cell, 2017 Mar 1. PMID 28057766, Free PMC Article

See all (39) 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)

Genotypes

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
  
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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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_2023_10

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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