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    MTFR1L mitochondrial fission regulator 1 like [ Homo sapiens (human) ]

    Gene ID: 56181, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTFR1Lprovided by HGNC
    Official Full Name
    mitochondrial fission regulator 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28836
    See related
    Ensembl:ENSG00000117640 MIM:620765; AllianceGenome:HGNC:28836
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM54B; MST116; MSTP116; HYST1888
    Summary
    Predicted to be involved in aerobic respiration and mitochondrial fission. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTFR1L in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25819954..25832938)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25657395..25670373)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26146445..26159429)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25947842-25948342 Neighboring gene MPRA-validated peak129 silencer Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 462 Neighboring gene MPRA-validated peak130 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 463 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26019008-26019256 Neighboring gene Sharpr-MPRA regulatory region 1026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26030010-26030510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26030511-26031011 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26032137-26033112 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26033113-26034088 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26034089-26035064 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26035065-26036040 Neighboring gene MPRA-validated peak132 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26050687-26051187 Neighboring gene NANOG hESC enhancer GRCh37_chr1:26051273-26051916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26074639-26075196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26075197-26075754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26076313-26076868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26078211-26078710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26083919-26084418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26098327-26099299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26106463-26107085 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26107086-26107708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26110213-26110835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26125878-26126599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26137118-26137992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26144488-26144988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 463 Neighboring gene selenoprotein N Neighboring gene uncharacterized LOC646471 Neighboring gene hESC enhancers GRCh37_chr1:26185603-26186228 and GRCh37_chr1:26186229-26186854 Neighboring gene aurora kinase A and ninein interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26189139-26189908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26196207-26196708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26201379-26201878 Neighboring gene progestin and adipoQ receptor family member 7 Neighboring gene small nuclear ribonucleoprotein polypeptide F pseudogene 2 Neighboring gene stathmin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    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. Yamada S, et al. Oncogene, 2004 Aug 5. PMID 15221005
    2. Interactome profiling reveals interaction of SARS-CoV-2 NSP13 with host factor STAT1 to suppress interferon signaling. Feng K, et al. J Mol Cell Biol, 2021 Dec 30. PMID 34687317, Free PMC Article
    3. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
    4. ARIH2 Is a Vif-Dependent Regulator of CUL5-Mediated APOBEC3G Degradation in HIV Infection. Hüttenhain R, et al. Cell Host Microbe, 2019 Jul 10. PMID 31253590, Free PMC Article
    5. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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 mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial fission regulator 1-like
    Names
    family with sequence similarity 54 member B
    protein FAM54B

    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.

    mRNA and Protein(s)

    1. NM_001099625.2 → NP_001093095.1  mitochondrial fission regulator 1-like isoform a

      See identical proteins and their annotated locations for NP_001093095.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AB075880, AL020996, BM968565, DB170641
      Consensus CDS
      CCDS41284.1
      UniProtKB/Swiss-Prot
      A6NCB4, B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9H019, Q9NUI7
      UniProtKB/TrEMBL
      A0A0S2Z5H6, B2RAQ5
      Related
      ENSP00000363421.2, ENST00000374303.7
      Conserved Domains (1) summary
      pfam05308
      Location:12 → 253
      Mito_fiss_reg; Mitochondrial fission regulator

    2. NM_001099626.2 → NP_001093096.1  mitochondrial fission regulator 1-like isoform a

      See identical proteins and their annotated locations for NP_001093096.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AL020996, BC017175, BM968565
      Consensus CDS
      CCDS41284.1
      UniProtKB/Swiss-Prot
      A6NCB4, B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9H019, Q9NUI7
      UniProtKB/TrEMBL
      A0A0S2Z5H6, B2RAQ5
      Related
      ENSP00000363418.3, ENST00000374300.7
      Conserved Domains (1) summary
      pfam05308
      Location:12 → 253
      Mito_fiss_reg; Mitochondrial fission regulator

    3. NM_001099627.2 → NP_001093097.1  mitochondrial fission regulator 1-like isoform b

      See identical proteins and their annotated locations for NP_001093097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AB075880, AL020996, BI545005, BM968565
      Consensus CDS
      CCDS44089.1
      UniProtKB/TrEMBL
      B3KPT5
      Related
      ENSP00000435461.1, ENST00000474295.5
      Conserved Domains (1) summary
      pfam05308
      Location:12 → 149
      Mito_fiss_reg; Mitochondrial fission regulator

    4. NM_019557.6 → NP_062457.3  mitochondrial fission regulator 1-like isoform a

      See identical proteins and their annotated locations for NP_062457.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform.
      Source sequence(s)
      AB075880, AL020996, AL512766, BI769886, BM968565
      Consensus CDS
      CCDS41284.1
      UniProtKB/Swiss-Prot
      A6NCB4, B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9H019, Q9NUI7
      UniProtKB/TrEMBL
      A0A0S2Z5H6, B2RAQ5
      Related
      ENSP00000363419.3, ENST00000374301.7
      Conserved Domains (1) summary
      pfam05308
      Location:12 → 253
      Mito_fiss_reg; Mitochondrial fission regulator

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      25819954..25832938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      25657395..25670373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H019.2 GenPept UniProtKB/Swiss-Prot:Q9H019

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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