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Aliases for MTFR1L Gene

Aliases for MTFR1L Gene

  • Mitochondrial Fission Regulator 1 Like 2 3 5
  • Mitochondrial Fission Regulator 1-Like 2 3
  • FAM54B 3 4
  • Family With Sequence Similarity 54, Member B 2
  • Family With Sequence Similarity 54 Member B 3
  • Protein FAM54B 3
  • HYST1888 3
  • MSTP116 3
  • MST116 3

External Ids for MTFR1L Gene

Previous HGNC Symbols for MTFR1L Gene

  • FAM54B

Previous GeneCards Identifiers for MTFR1L Gene

  • GC01P026147

Summaries for MTFR1L Gene

GeneCards Summary for MTFR1L Gene

MTFR1L (Mitochondrial Fission Regulator 1 Like) is a Protein Coding gene. An important paralog of this gene is MTFR2.

Gene Wiki entry for MTFR1L Gene

Additional gene information for MTFR1L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTFR1L Gene

Genomics for MTFR1L Gene

GeneHancer (GH) Regulatory Elements for MTFR1L Gene

Promoters and enhancers for MTFR1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J025817 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 693.5 +1.4 1391 4.7 HDGF HNRNPUL1 PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 MTFR1L SELENON ARID1A HMGN2 LOC101928324 ENSG00000261349 SYF2 PIGV SH3BGRL3 LOC101928728
GH01J025818 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 -1.2 -1178 0.1 SELENON MTFR1L LOC646471 ENSG00000255054
GH01J025858 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 40 +41.9 41929 4.6 CLOCK YBX1 YY1 ZNF213 ZNF416 ZNF143 SP3 MEF2D SSRP1 ZNF610 ENSG00000236528 AUNIP ARID1A HMGN2 MTFR1L ENSG00000261349 SELENON LOC101928324 RPL17P9 ENSG00000207302
GH01J025870 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37 +55.0 54955 6.6 HDGF PKNOX1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 SLC30A9 POLR2B PAQR7 MTFR1L HMGN2 ARID1A ENSG00000207302 ENSG00000231953 ENSG00000261025 RPL39P7 ENSG00000261349 LOC101928324
GH01J025888 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 30.9 +74.0 73993 8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A IRF4 E2F8 ZNF143 FOS PAQR7 SELENON MTFR1L ARID1A PAFAH2 ENSG00000252691 ENSG00000252190 EXTL1 RNU6-110P SLC30A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTFR1L on UCSC Golden Path with GeneCards custom track

Genomic Locations for MTFR1L Gene

Genomic Locations for MTFR1L Gene
chr1:25,818,640-25,832,942
(GRCh38/hg38)
Size:
14,303 bases
Orientation:
Plus strand
chr1:26,145,131-26,159,433
(GRCh37/hg19)
Size:
14,303 bases
Orientation:
Plus strand

Genomic View for MTFR1L Gene

Genes around MTFR1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTFR1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTFR1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTFR1L Gene

Proteins for MTFR1L Gene

  • Protein details for MTFR1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H019-MFR1L_HUMAN
    Recommended name:
    Mitochondrial fission regulator 1-like
    Protein Accession:
    Q9H019
    Secondary Accessions:
    • A6NCB4
    • B7WNV5
    • D3DPJ4
    • Q63HP1
    • Q7Z2S7
    • Q9NUI7

    Protein attributes for MTFR1L Gene

    Size:
    292 amino acids
    Molecular mass:
    31957 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ13638.1; Type=Frameshift; Positions=7, 49; Evidence={ECO:0000305};

    Alternative splice isoforms for MTFR1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTFR1L Gene

Post-translational modifications for MTFR1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTFR1L Gene

Domains & Families for MTFR1L Gene

Gene Families for MTFR1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTFR1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTFR1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H019

UniProtKB/Swiss-Prot:

MFR1L_HUMAN :
  • Belongs to the MTFR1 family.
Family:
  • Belongs to the MTFR1 family.
genes like me logo Genes that share domains with MTFR1L: view

Function for MTFR1L Gene

Phenotypes From GWAS Catalog for MTFR1L Gene

Gene Ontology (GO) - Molecular Function for MTFR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MTFR1L: view
genes like me logo Genes that share phenotypes with MTFR1L: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTFR1L Gene

Localization for MTFR1L Gene

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 MTFR1L gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTFR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with MTFR1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MTFR1L Gene

Pathways & Interactions for MTFR1L Gene

SuperPathways for MTFR1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTFR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA --
GO:0009060 aerobic respiration IBA --
genes like me logo Genes that share ontologies with MTFR1L: view

No data available for Pathways by source and SIGNOR curated interactions for MTFR1L Gene

Drugs & Compounds for MTFR1L Gene

No Compound Related Data Available

Transcripts for MTFR1L Gene

Unigene Clusters for MTFR1L Gene

Mitochondrial fission regulator 1-like:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTFR1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ·
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - -
SP10: - -
SP11: - -
SP12: - - - - - - - - - - -
SP13: - - - - - - - - - - - - -
SP14:

ExUns: 13c · 13d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for MTFR1L Gene

GeneLoc Exon Structure for
MTFR1L
ECgene alternative splicing isoforms for
MTFR1L

Expression for MTFR1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTFR1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTFR1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.0), Colon (7.2), and Placenta (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MTFR1L Gene



Protein tissue co-expression partners for MTFR1L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTFR1L Gene:

MTFR1L

SOURCE GeneReport for Unigene cluster for MTFR1L Gene:

Hs.149305

Evidence on tissue expression from TISSUES for MTFR1L Gene

  • Heart(4.4)
  • Liver(4.3)
  • Nervous system(4.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with MTFR1L: view

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 MTFR1L Gene

Orthologs for MTFR1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for MTFR1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM54B 34 33
  • 99.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTFR1L 34 33
  • 93.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTFR1L 34 33
  • 93.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtfr1l 33
  • 91.12 (n)
oppossum
(Monodelphis domestica)
Mammalia MTFR1L 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtfr1l 16 34 33
  • 89.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTFR1L 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTFR1L 34
  • 78 (a)
OneToOne
FAM54B 33
  • 73.5 (n)
lizard
(Anolis carolinensis)
Reptilia MTFR1L 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfr1l 33
  • 61.09 (n)
zebrafish
(Danio rerio)
Actinopterygii mtfr1l 34 33
  • 60.17 (n)
OneToOne
wufi39f11 33
Species where no ortholog for MTFR1L 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 MTFR1L Gene

ENSEMBL:
Gene Tree for MTFR1L (if available)
TreeFam:
Gene Tree for MTFR1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTFR1L: view image

Paralogs for MTFR1L Gene

Paralogs for MTFR1L Gene

(1) SIMAP similar genes for MTFR1L Gene using alignment to 12 proteins:

  • MFR1L_HUMAN
  • C9JF50_HUMAN
  • E9PIF9_HUMAN
  • E9PJP7_HUMAN
  • E9PLD2_HUMAN
  • E9PLU1_HUMAN
  • E9PNJ0_HUMAN
  • E9PPF9_HUMAN
  • E9PPQ0_HUMAN
  • E9PRK5_HUMAN
  • E9PRW1_HUMAN
  • E9PSD6_HUMAN
genes like me logo Genes that share paralogs with MTFR1L: view

Variants for MTFR1L Gene

Sequence variations from dbSNP and Humsavar for MTFR1L Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1007658425 uncertain-significance, SEPN1-Related Disorders 25,818,193(+) T/C upstream_transcript_variant
rs1044183 likely-benign, SEPN1-Related Disorders 25,818,054(+) A/T upstream_transcript_variant
rs1057515502 uncertain-significance, SEPN1-Related Disorders 25,817,946(+) T/ upstream_transcript_variant
rs371383269 likely-benign, uncertain-significance, SEPN1-Related Disorders 25,817,947(+) CCCCCCCC/CCCCC/CCCCCCC upstream_transcript_variant
rs376975577 likely-benign, SEPN1-Related Disorders 25,817,999(+) CTCCT/CT upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MTFR1L Gene

Variant ID Type Subtype PubMed ID
esv1998326 CNV deletion 18987734
esv2671091 CNV deletion 23128226
nsv460884 CNV loss 19166990
nsv545883 CNV loss 21841781
nsv7490 CNV deletion 18451855
nsv834491 CNV loss 17160897

Variation tolerance for MTFR1L Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTFR1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTFR1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTFR1L Gene

Disorders for MTFR1L Gene

Additional Disease Information for MTFR1L

No disorders were found for MTFR1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTFR1L Gene

Publications for MTFR1L Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4 58
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 58
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MTFR1L Gene

Sources for MTFR1L Gene

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