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

Gene ID: 9650, updated on 19-Nov-2022

Summary

Official Symbol
MTFR1provided by HGNC
Official Full Name
mitochondrial fission regulator 1provided by HGNC
Primary source
HGNC:HGNC:29510
See related
Ensembl:ENSG00000066855 MIM:619414; AllianceGenome:HGNC:29510
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
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Try the new Transcript table

Genomic context

See MTFR1 in Genome Data Viewer
Location:
8q13.1
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (65643889..65778598)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (66070410..66136241)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (66556969..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 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

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

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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.

Genomic

  1. NG_047112.2 RefSeqGene

    Range
    5847..71675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145838.2NP_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)
    AC055822
    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_001145839.2NP_001139311.1  mitochondrial fission regulator 1 isoform 3

    See identical proteins and their annotated locations for NP_001139311.1

    Status: REVIEWED

    Source sequence(s)
    AC055822, AK304716
    UniProtKB/TrEMBL
    B4E3G8
    Related
    ENST00000424808.6
    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator
  3. NM_001413068.1NP_001399997.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  4. NM_001413069.1NP_001399998.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  5. NM_001413070.1NP_001399999.1  mitochondrial fission regulator 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  6. NM_001413071.1NP_001400000.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  7. NM_001413073.1NP_001400002.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  8. NM_001413074.1NP_001400003.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  9. NM_001413075.1NP_001400004.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  10. NM_001413076.1NP_001400005.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  11. NM_001413077.1NP_001400006.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  12. NM_001413078.1NP_001400007.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  13. NM_001413079.1NP_001400008.1  mitochondrial fission regulator 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC055822
  14. NM_001413080.1NP_001400009.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  15. NM_001413081.1NP_001400010.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  16. NM_001413082.1NP_001400011.1  mitochondrial fission regulator 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  17. NM_001413083.1NP_001400012.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  18. NM_001413084.1NP_001400013.1  mitochondrial fission regulator 1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC055822
  19. NM_014637.4NP_055452.3  mitochondrial fission regulator 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055452.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC055822, AW157714, BC036116
    Consensus CDS
    CCDS6182.1
    UniProtKB/Swiss-Prot
    Q15390, Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
    Related
    ENSP00000262146.4, ENST00000262146.9
    Conserved Domains (1) summary
    pfam05308
    Location:24251
    Mito_fiss_reg; Mitochondrial fission regulator

RNA

  1. NR_182100.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC055822
  2. NR_182101.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC055822
  3. NR_182102.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC055822
  4. NR_182103.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC055822

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    65643889..65778598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716484.3XP_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_047422465.1XP_047278421.1  mitochondrial fission regulator 1 isoform X4

  3. XM_047422463.1XP_047278419.1  mitochondrial fission regulator 1 isoform X1

  4. XM_011517626.3XP_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
  5. XM_047422466.1XP_047278422.1  mitochondrial fission regulator 1 isoform X4

    UniProtKB/Swiss-Prot
    Q8IVD7
    UniProtKB/TrEMBL
    A0A024R7W1
  6. XM_011517627.4XP_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
  7. XM_011517628.3XP_011515930.1  mitochondrial fission regulator 1 isoform X2

    Conserved Domains (1) summary
    pfam05308
    Location:45238
    Mito_fiss_reg; Mitochondrial fission regulator
  8. XM_047422464.1XP_047278420.1  mitochondrial fission regulator 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    66070410..66136241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)