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

Gene ID: 56181, updated on 21-Mar-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. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25819954..25832938)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25657395..25670373)
105.20220307 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: 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

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 (36) 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)

Genotypes

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
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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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_2023_10

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

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