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MTFP1 mitochondrial fission process 1 [ Homo sapiens (human) ]

Gene ID: 51537, updated on 1-Jun-2020

Summary

Official Symbol
MTFP1provided by HGNC
Official Full Name
mitochondrial fission process 1provided by HGNC
Primary source
HGNC:HGNC:26945
See related
Ensembl:ENSG00000242114 MIM:610235
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
MTP18; HSPC242
Summary
MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in duodenum (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues See more
Orthologs

Genomic context

See MTFP1 in Genome Data Viewer
Location:
22q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30425768..30429054)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30821611..30825041)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 215 Neighboring gene SEC14 like lipid binding 2 Neighboring gene uncharacterized LOC105372989 Neighboring gene RNA, U6 small nuclear 564, pseudogene Neighboring gene uncharacterized LOC105372990 Neighboring gene zinc transporter ZIP1-like

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mitochondrial fission process protein 1
Names
mitochondrial 18 kDa protein
mitochondrial fission protein MTP18
mitochondrial protein 18 kDa

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_001003704.3NP_001003704.1  mitochondrial fission process protein 1 isoform b

    See identical proteins and their annotated locations for NP_001003704.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC001608, BQ187590, CB107806
    Consensus CDS
    CCDS33634.1
    UniProtKB/Swiss-Prot
    Q9UDX5
    Related
    ENSP00000347267.4, ENST00000355143.8
    Conserved Domains (1) summary
    pfam10558
    Location:2055
    MTP18; Mitochondrial 18 KDa protein (MTP18)
  2. NM_016498.5NP_057582.2  mitochondrial fission process protein 1 isoform a

    See identical proteins and their annotated locations for NP_057582.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC001608, BC046132, CB107806
    Consensus CDS
    CCDS33635.1
    UniProtKB/Swiss-Prot
    Q9UDX5
    UniProtKB/TrEMBL
    A0A024R1E4
    Related
    ENSP00000266263.5, ENST00000266263.10
    Conserved Domains (1) summary
    pfam10558
    Location:20146
    MTP18; Mitochondrial 18 KDa protein (MTP18)

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    30425768..30429054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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