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MTFR1 mitochondrial fission regulator 1 [ Homo sapiens (human) ]

Gene ID: 9650, updated on 21-Dec-2019

Summary

Official Symbol
MTFR1provided by HGNC
Official Full Name
mitochondrial fission regulator 1provided by HGNC
Primary source
HGNC:HGNC:29510
See related
Ensembl:ENSG00000066855
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHPPR; FAM54A2
Summary
This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in kidney (RPKM 10.4), testis (RPKM 8.6) and 25 other tissues See more
Orthologs

Genomic context

See MTFR1 in Genome Data Viewer
Location:
8q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (65643873..65771252)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66556888..66622798)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1299 Neighboring gene armadillo repeat containing 1 Neighboring gene uncharacterized LOC107986949 Neighboring gene uncharacterized LOC107986948 Neighboring gene phosphodiesterase 7A Neighboring gene uncharacterized LOC107986950 Neighboring gene uncharacterized LOC105375883 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 beta

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0009

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aerobic respiration ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
mitochondrial fission regulator 1
Names
chondrocyte protein with a poly-proline region

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.

Genomic

  1. NG_047112.1 RefSeqGene

    Range
    5862..71690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145838.1NP_001139310.1  mitochondrial fission regulator 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA015794, AW157714, BC043498, BX537854
    Consensus CDS
    CCDS55240.1
    UniProtKB/Swiss-Prot
    Q15390
    Related
    ENSP00000391502.2, ENST00000458689.2
    Conserved Domains (1) summary
    pfam05308
    Location:25218
    Mito_fiss_reg; Mitochondrial fission regulator
  2. NM_001145839.1NP_001139311.1  mitochondrial fission regulator 1 isoform 3

    See identical proteins and their annotated locations for NP_001139311.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC055822, AK304716
    UniProtKB/TrEMBL
    B4E3G8
    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator
  3. NM_014637.4NP_055452.3  mitochondrial fission regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_055452.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC055822, AW157714, BC036116
    Consensus CDS
    CCDS6182.1
    UniProtKB/Swiss-Prot
    Q15390
    UniProtKB/TrEMBL
    A0A024R7W1
    Related
    ENSP00000262146.4, ENST00000262146.9
    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    65643873..65771252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716484.2XP_006716547.2  mitochondrial fission regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_006716547.2

    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator
  2. XM_011517626.2XP_011515928.1  mitochondrial fission regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_011515928.1

    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator
  3. XM_011517627.3XP_011515929.1  mitochondrial fission regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_011515929.1

    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator
  4. XM_011517628.2XP_011515930.1  mitochondrial fission regulator 1 isoform X2

    Conserved Domains (1) summary
    pfam05308
    Location:45238
    Mito_fiss_reg; Mitochondrial fission regulator
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