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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTFR1L Gene

protein-coding   GIFtS: 38
GCID: GC01P026147

Mitochondrial Fission Regulator 1-Like

(Previous names: family with sequence similarity 54, member B)
(Previous symbol: FAM54B)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitochondrial Fission Regulator 1-Like1 2
FAM54B1 2 3
Family With Sequence Similarity 54, Member B1 2
MST1162
MSTP1162
Protein FAM54B2

External Ids:    HGNC: 288361   Entrez Gene: 561812   Ensembl: ENSG000001176407   UniProtKB: Q9H0193   

Export aliases for MTFR1L gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MTFR1L Gene: 
MTFR1L (mitochondrial fission regulator 1-like) is a protein-coding gene. Diseases associated with MTFR1L include hepatoblastoma. An important paralog of this gene is MTFR2.

Gene Wiki entry for MTFR1L (FAM54B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTFR1L
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTFR1L promoter sequence
   Search SABiosciences Chromatin IP Primers for MTFR1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTFR1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.11

MTFR1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTFR1L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P026147:  view genomic region     (about GC identifiers)

Start:
26,145,131 bp from pter      End:
26,159,433 bp from pter
Size:
14,303 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MFR1L_HUMAN, Q9H019 (See protein sequence)
Recommended Name: Mitochondrial fission regulator 1-like  
Size: 292 amino acids; 31957 Da
Sequence caution: Sequence=AAQ13638.1; Type=Frameshift; Positions=7, 49;
Secondary accessions: A6NCB4 B7WNV5 D3DPJ4 Q63HP1 Q7Z2S7 Q9NUI7
Alternative splicing: 3 isoforms:  Q9H019-1   Q9H019-2   Q9H019-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTFR1L: NX_Q9H019

Explore proteomics data for MTFR1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H019

  • MTFR1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTFR1L Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001093095.1  NP_001093096.1  NP_001093097.1  NP_062457.3  

    ENSEMBL proteins: 
     ENSP00000390841   ENSP00000434773   ENSP00000434038   ENSP00000435461   ENSP00000436954  
     ENSP00000432719   ENSP00000432227   ENSP00000435553   ENSP00000435193   ENSP00000363426  
     ENSP00000434157   ENSP00000434120   ENSP00000363419   ENSP00000435745   ENSP00000431278  
     ENSP00000432014   ENSP00000363418   ENSP00000434751   ENSP00000363421  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007972 Mtfr1

    Graphical View of Domain Structure for InterPro Entry Q9H019

    ProtoNet protein and cluster: Q9H019

    UniProtKB/Swiss-Prot: MFR1L_HUMAN, Q9H019
    Similarity: Belongs to the MTFR1 family


    MTFR1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for MTFR1L:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTFR1L 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTFR1L


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTFR1L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MTFR1L (ENSP000003634184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTFR1L (MFR1L)

    Search CenterWatch for drugs/clinical trials and news about MTFR1L / MFR1L

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTFR1L gene (4 alternative transcripts): 
    NM_001099625.1  NM_001099626.1  NM_001099627.1  NM_019557.5  

    Unigene Cluster for MTFR1L:

    Mitochondrial fission regulator 1-like
    Hs.149305  [show with all ESTs]
    Unigene Representative Sequence: AK056721
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000424294 ENST00000533762 ENST00000529116 ENST00000474295 ENST00000488327
    ENST00000472643 ENST00000494293 ENST00000469815 ENST00000526894 ENST00000478284
    ENST00000524618 ENST00000374307 ENST00000528624 ENST00000525713 ENST00000374301(uc001bks.4)
    ENST00000464008 ENST00000526158 ENST00000530599
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB075880.1 AF173891.1 AK056721.1 AK290744.1 AK299221.1 AK302324.1 AK314297.1 AL512766.1 
    AY007100.1 BC017175.2 BX647921.1 

    24 DOTS entries:

    DT.92442381  DT.100879180  DT.455925  DT.95159917  DT.100765548  DT.95304959  DT.101984770  DT.121338279 
    DT.95159913  DT.121338216  DT.121338217  DT.121338269  DT.92442372  DT.100806630  DT.100879181  DT.100879185 
    DT.100879188  DT.121338239  DT.121338240  DT.121338273  DT.121338281  DT.121338283  DT.85105377  DT.91829419 

    24/645 AceView cDNA sequences (see all 645):

    AA613025 CR609063 CF131242 AW052023 BE794388 AA243221 BM556367 AI033297 
    AI207069 CR606265 BU193548 N44105 AA394149 BG222608 D29164 AI682869 
    AI219105 AA347476 AI978744 T64080 BP343243 BM789037 AI627543 BE799581 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for MTFR1L (see all 14)    About this scheme

    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:                                -     -     -           -     -           -                                                                                 

    ExUns: 13c · 13d
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for MTFR1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    See MTFR1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTFR1L

    SOURCE GeneReport for Unigene cluster: Hs.149305
        SABiosciences Custom PCR Arrays for MTFR1L
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTFR1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MTFR1L gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtfr1l5
    Fam54b1
    family with sequence similarity 54, member B1, 5 89.85(n)1
    95.85(a)1
      4 (66.83 cM)5
    768241  NM_001256112.11  NP_001243041.11 
     1345255505 
    chicken
    (Gallus gallus)
    Aves MTFR1L1 mitochondrial fission regulator 1-like 74.56(n)
    80.57(a)
      419586  XM_417733.3  XP_417733.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM54B6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343480.1(135920-147423)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480165132   -- 74(n)    48016513 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi39f112 wufi39f11 73.77(n)   334296  BC053148.1 


    ENSEMBL Gene Tree for MTFR1L (if available)
    TreeFam Gene Tree for MTFR1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTFR1L gene
    MTFR22  MTFR12  
    1 SIMAP similar gene for MTFR1L using alignment to 12 protein entries:     MFR1L_HUMAN (see all proteins):
    MTFR1

    MTFR1L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/210 SNPs in MTFR1L are shown (see all 210)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs592084521,2
    C--26145239(+) GCTCCG/ATTCTT 3 -- us2k12Minor allele frequency- A:0.15WA 120
    rs767064411,2
    C,F--26145328(+) GCCATC/TGCACA 4 -- us2k11Minor allele frequency- T:0.06NA 120
    rs1913678071,2
    --26145362(+) CACAAC/TGTGCC 4 -- us2k10--------
    rs571975361,2
    C--26145467(+) CCAGTC/TACATA 4 -- us2k12Minor allele frequency- T:0.15WA 120
    rs728774821,2
    C,F--26145614(+) CATGAA/TACCAG 4 -- us2k13Minor allele frequency- T:0.17WA 122
    rs1389016541,2
    C--26145756(+) ACAGTA/GAGGGC 4 -- us2k10--------
    rs1449076571,2
    C--26145879(+) ATACC-/GTGTG 
     TGTGTGT
    GTGTG
    4 -- us2k10--------
    rs715142621,2
    C--26145916(+) GTGTGA/TGTGTG 4 -- us2k12Minor allele frequency- T:0.00NA CSA 3
    rs39528561,2
    C--26145918(-) CTCACT/ACACAC 4 -- us2k12Minor allele frequency- A:0.00NA CSA 3
    rs30334731,2
    C--26145920(-) CTCTCT/ACACAC 4 -- us2k13Minor allele frequency- A:0.20NA CSA 5

    HapMap Linkage Disequilibrium report for MTFR1L (26145131 - 26159433 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MTFR1L: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MTFR1L
    DNA2.0 Custom Variant and Variant Library Synthesis for MTFR1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for MTFR1L:    About MalaCards
    hepatoblastoma    


    MTFR1L for disorders           About GeneDecksing


    Export disorders for MTFR1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MTFR1L gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MTFR1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    4. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56181 HGNC: 28836 AceView: LOC56181 Ensembl:ENSG00000117640 euGenes: HUgn56181
    ECgene: MTFR1L H-InvDB: MTFR1L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MTFR1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MTFR1L gene:
    Search GeneIP for patents involving MTFR1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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