U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 56181, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001099625.2NP_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:12253
      Mito_fiss_reg; Mitochondrial fission regulator
    2. NM_001099626.2NP_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:12253
      Mito_fiss_reg; Mitochondrial fission regulator
    3. NM_001099627.2NP_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:12149
      Mito_fiss_reg; Mitochondrial fission regulator
    4. NM_019557.6NP_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:12253
      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)