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Aliases for MTFR1 Gene

Aliases for MTFR1 Gene

  • Mitochondrial Fission Regulator 1 2 3 5
  • Chondrocyte Protein With A Poly-Proline Region 3 4
  • FAM54A2 3 4
  • CHPPR 3 4
  • Likely Ortholog Of Chicken Chondrocyte Protein With A Poly Proline Region 2
  • KIAA0009 4

External Ids for MTFR1 Gene

Previous GeneCards Identifiers for MTFR1 Gene

  • GC08P066720
  • GC08P066556
  • GC08P062046

Summaries for MTFR1 Gene

Entrez Gene Summary for MTFR1 Gene

  • 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]

GeneCards Summary for MTFR1 Gene

MTFR1 (Mitochondrial Fission Regulator 1) is a Protein Coding gene. An important paralog of this gene is MTFR2.

UniProtKB/Swiss-Prot for MTFR1 Gene

  • May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity).

Additional gene information for MTFR1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTFR1 Gene

Genomics for MTFR1 Gene

Regulatory Elements for MTFR1 Gene

Enhancers for MTFR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H065716 1.4 Ensembl ENCODE dbSUPER 35.8 +74.1 74135 3 HDAC1 TBP FOXA2 ATF1 BRCA1 RFX5 ZSCAN5C RCOR1 ATF7 FOS MTFR1 ENSG00000272010 ENSG00000272155 GC08M065706
GH08H065643 1.1 ENCODE 26.4 +0.6 646 2 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 SLC30A9 ZNF766 ZNF143 SP5 MTFR1 ENSG00000272010 ARMC1 ENSG00000272155
GH08H065632 1.1 ENCODE 26.1 -9.5 -9491 2 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS MTFR1 ENSG00000272010 ARMC1
GH08H065944 2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +306.9 306900 12 PKNOX1 SIN3A FEZF1 ZNF2 TCF12 ZNF302 GATA2 ZNF143 ATF7 FOS PDE7A MTFR1 ARMC1 DNAJC5B LINC01299 ENSG00000272010 RRS1 GC08P065965 GC08M065874
GH08H065836 1.7 FANTOM5 ENCODE dbSUPER 15.5 +196.2 196237 6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MTFR1 C8orf44 DNAJC5B LINC01299 PDE7A GC08M065824
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTFR1 on UCSC Golden Path with GeneCards custom track

Promoters for MTFR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225305 728 2400 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 SLC30A9 ZNF766 ZNF143 SP5

Genomic Location for MTFR1 Gene

Chromosome:
8
Start:
65,643,873 bp from pter
End:
65,771,261 bp from pter
Size:
127,389 bases
Orientation:
Plus strand

Genomic View for MTFR1 Gene

Genes around MTFR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTFR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTFR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTFR1 Gene

Proteins for MTFR1 Gene

  • Protein details for MTFR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15390-MTFR1_HUMAN
    Recommended name:
    Mitochondrial fission regulator 1
    Protein Accession:
    Q15390
    Secondary Accessions:
    • E7EP84
    • Q6IB94
    • Q7Z669
    • Q86XH5
    • Q8IVD7

    Protein attributes for MTFR1 Gene

    Size:
    333 amino acids
    Molecular mass:
    37000 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA02798.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTFR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTFR1 Gene

Post-translational modifications for MTFR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTFR1 Gene

Domains & Families for MTFR1 Gene

Gene Families for MTFR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTFR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTFR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15390

UniProtKB/Swiss-Prot:

MTFR1_HUMAN :
  • Belongs to the MTFR1 family.
Family:
  • Belongs to the MTFR1 family.
genes like me logo Genes that share domains with MTFR1: view

Function for MTFR1 Gene

Molecular function for MTFR1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity).

Phenotypes From GWAS Catalog for MTFR1 Gene

Phenotypes for MTFR1 Gene

MGI mutant phenotypes for MTFR1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MTFR1:
genes like me logo Genes that share phenotypes with MTFR1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MTFR1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTFR1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTFR1 Gene

Localization for MTFR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTFR1 Gene

Mitochondrion. Note=May be associated with the inner and the outer mitochondrial membrane. {ECO:0000250}.

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 MTFR1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,ISS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA 10942595
genes like me logo Genes that share ontologies with MTFR1: view

Pathways & Interactions for MTFR1 Gene

SuperPathways for MTFR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTFR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission ISS --
GO:0007005 mitochondrion organization ISS --
GO:0009060 aerobic respiration ISS --
genes like me logo Genes that share ontologies with MTFR1: view

No data available for Pathways by source and SIGNOR curated interactions for MTFR1 Gene

Drugs & Compounds for MTFR1 Gene

No Compound Related Data Available

Transcripts for MTFR1 Gene

Unigene Clusters for MTFR1 Gene

Mitochondrial fission regulator 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTFR1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MTFR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - -
SP2: - - -
SP3:
SP4: - -
SP5: -
SP6: - - -

Relevant External Links for MTFR1 Gene

GeneLoc Exon Structure for
MTFR1
ECgene alternative splicing isoforms for
MTFR1

Expression for MTFR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTFR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTFR1 Gene

This gene is overexpressed in Placenta (52.8) and Liver (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MTFR1 Gene



Protein tissue co-expression partners for MTFR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTFR1 Gene:

MTFR1

SOURCE GeneReport for Unigene cluster for MTFR1 Gene:

Hs.584788

Evidence on tissue expression from TISSUES for MTFR1 Gene

  • Nervous system(4.6)
  • Lung(4.4)
  • Liver(4.3)
  • Bone marrow(4.1)
  • Kidney(2.8)
  • Intestine(2.7)
genes like me logo Genes that share expression patterns with MTFR1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTFR1 Gene

Orthologs for MTFR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MTFR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTFR1 34 33
  • 99.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTFR1 33
  • 86.65 (n)
-- 34
  • 84 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MTFR1 33 34
  • 83.53 (n)
mouse
(Mus musculus)
Mammalia Mtfr1 33 16 34
  • 82.72 (n)
rat
(Rattus norvegicus)
Mammalia Mtfr1 33
  • 82.63 (n)
oppossum
(Monodelphis domestica)
Mammalia MTFR1 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTFR1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTFR1 33 34
  • 69.81 (n)
lizard
(Anolis carolinensis)
Reptilia MTFR1 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfr1 33
  • 63.94 (n)
zebrafish
(Danio rerio)
Actinopterygii mtfr1 33 34
  • 56.29 (n)
Species where no ortholog for MTFR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MTFR1 Gene

ENSEMBL:
Gene Tree for MTFR1 (if available)
TreeFam:
Gene Tree for MTFR1 (if available)

Paralogs for MTFR1 Gene

Paralogs for MTFR1 Gene

(1) SIMAP similar genes for MTFR1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for MTFR1 Gene

genes like me logo Genes that share paralogs with MTFR1: view

Variants for MTFR1 Gene

Sequence variations from dbSNP and Humsavar for MTFR1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs386352331 Uncertain significance 65,693,722(+) GATGG(A/G/T)TAGCC reference, missense
rs1000032536 -- 65,713,314(+) TGCAC(A/T)CCTGT intron-variant
rs1000033505 -- 65,699,211(+) TGTCT(A/G)TCTAC intron-variant
rs1000038298 -- 65,659,511(+) CAATC(C/T)GAGCT intron-variant
rs1000043727 -- 65,663,926(+) GGGCT(C/T)AGACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTFR1 Gene

Variant ID Type Subtype PubMed ID
esv1024224 CNV insertion 17803354
esv2676136 CNV deletion 23128226
esv2761434 CNV gain 21179565
esv3543598 CNV deletion 23714750
esv3617469 CNV loss 21293372
esv3617470 CNV loss 21293372
nsv1109970 CNV deletion 24896259
nsv1115099 CNV deletion 24896259

Variation tolerance for MTFR1 Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTFR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTFR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTFR1 Gene

Disorders for MTFR1 Gene

Relevant External Links for MTFR1

Genetic Association Database (GAD)
MTFR1
Human Genome Epidemiology (HuGE) Navigator
MTFR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTFR1

No disorders were found for MTFR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTFR1 Gene

Publications for MTFR1 Gene

  1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 60
  4. Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission. (PMID: 15389597) Tonachini L … Castagnola P (Journal of cellular physiology 2004) 2 3 60
  5. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement). (PMID: 7584028) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 60

Products for MTFR1 Gene

Sources for MTFR1 Gene

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