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

Gene ID: 56181, updated on 5-Jul-2020

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
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
Expression
Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues See more
Orthologs

Genomic context

See MTFR1L in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25819906..25832942)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26146397..26159433)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mannosidase alpha class 1C member 1 Neighboring gene selenoprotein N Neighboring gene uncharacterized LOC646471 Neighboring gene aurora kinase A and ninein interacting protein 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q9H019
    UniProtKB/TrEMBL
    A0A0S2Z5H6
    Related
    ENSP00000363421.2, ENST00000374303.7
    Conserved Domains (1) summary
    pfam05308
    Location:12253
    Mito_fiss_reg; Mitochondrial fission regulator
  2. NM_001099626.1NP_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
    Q9H019
    UniProtKB/TrEMBL
    A0A0S2Z5H6
    Related
    ENSP00000363418.3, ENST00000374300.7
    Conserved Domains (1) summary
    pfam05308
    Location:12253
    Mito_fiss_reg; Mitochondrial fission regulator
  3. NM_001099627.1NP_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, DB170641
    Consensus CDS
    CCDS44089.1
    UniProtKB/Swiss-Prot
    Q9H019
    Related
    ENSP00000435461.1, ENST00000474295.5
    Conserved Domains (1) summary
    pfam05308
    Location:12149
    Mito_fiss_reg; Mitochondrial fission regulator
  4. NM_019557.5NP_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
    Q9H019
    UniProtKB/TrEMBL
    A0A0S2Z5H6
    Related
    ENSP00000363419.3, ENST00000374301.7
    Conserved Domains (1) summary
    pfam05308
    Location:12253
    Mito_fiss_reg; Mitochondrial fission regulator

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    25819906..25832942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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