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MTERF3 mitochondrial transcription termination factor 3 [ Homo sapiens (human) ]

Gene ID: 51001, updated on 13-May-2022

Summary

Official Symbol
MTERF3provided by HGNC
Official Full Name
mitochondrial transcription termination factor 3provided by HGNC
Primary source
HGNC:HGNC:24258
See related
Ensembl:ENSG00000156469 MIM:616930; AllianceGenome:HGNC:24258
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
CGI-12; MTERFD1
Summary
Enables transcription cis-regulatory region binding activity. Involved in negative regulation of transcription, DNA-templated. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues See more
Orthologs
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Genomic context

See MTERF3 in Genome Data Viewer
Location:
8q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96239398..96261613, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97364733..97387331, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97251626..97273841, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene UQCRB antisense RNA 1 Neighboring gene uncharacterized LOC105375652 Neighboring gene Sharpr-MPRA regulatory region 10382 Neighboring gene phosphatidylserine synthase 1 Neighboring gene uncharacterized LOC102724804

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ10939

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in mitochondrial ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
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
PubMed 

General protein information

Preferred Names
transcription termination factor 3, mitochondrial
Names
MTERF domain containing 1
mTERF domain-containing protein 1, mitochondrial

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_001286643.1NP_001273572.1  transcription termination factor 3, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK309002, HY116693
    Consensus CDS
    CCDS75772.1
    UniProtKB/TrEMBL
    E5RIK9
    Related
    ENSP00000429400.1, ENST00000523821.5
    Conserved Domains (1) summary
    cl19765
    Location:159355
    mTERF; mTERF
  2. NM_001362964.1NP_001349893.1  transcription termination factor 3, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK309002, BC012995, HY116693, HY158862
    Conserved Domains (1) summary
    cl19765
    Location:1176
    mTERF
  3. NM_015942.5NP_057026.3  transcription termination factor 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_057026.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AK309002, BC012995, HY116693
    Consensus CDS
    CCDS6270.1
    UniProtKB/Swiss-Prot
    Q96E29
    Related
    ENSP00000287025.3, ENST00000287025.4
    Conserved Domains (1) summary
    cl19765
    Location:159398
    mTERF; mTERF

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
    96239398..96261613 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517054.3XP_011515356.1  transcription termination factor 3, mitochondrial isoform X1

    Related
    ENSP00000430138.1, ENST00000522822.5
    Conserved Domains (1) summary
    cl19765
    Location:46253
    mTERF; mTERF

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    97364733..97387331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)