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MTERF1 mitochondrial transcription termination factor 1 [ Homo sapiens (human) ]

Gene ID: 7978, updated on 27-Nov-2024

Summary

Official Symbol
MTERF1provided by HGNC
Official Full Name
mitochondrial transcription termination factor 1provided by HGNC
Primary source
HGNC:HGNC:21463
See related
Ensembl:ENSG00000127989 MIM:602318; AllianceGenome:HGNC:21463
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
MTERF
Summary
This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lymph node (RPKM 5.6), appendix (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See MTERF1 in Genome Data Viewer
Location:
7q21.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (91870929..91880702, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93112226..93122026, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91500243..91510016, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:91285565-91286066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:91302583-91303084 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:91381695-91382196 Neighboring gene uncharacterized LOC124901696 Neighboring gene uncharacterized LOC112267986 Neighboring gene uncharacterized LOC124901698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278

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 protein information

Preferred Names
transcription termination factor 1, mitochondrial
Names
transcription termination factor, 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_001301134.2NP_001288063.1  transcription termination factor 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001288063.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks part of the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC003086, AK222730, AL832861, BC130391, BU740531
    Consensus CDS
    CCDS75629.1
    UniProtKB/TrEMBL
    B2R952, B4DPR9
    Related
    ENSP00000414116.1, ENST00000419292.1
    Conserved Domains (1) summary
    pfam02536
    Location:56369
    mTERF; mTERF
  2. NM_001301135.2NP_001288064.1  transcription termination factor 1, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001288064.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AC003086, AK222730, AK298469, BU740531
    Consensus CDS
    CCDS75629.1
    UniProtKB/TrEMBL
    B2R952, B4DPR9
    Related
    ENSP00000384986.2, ENST00000406735.6
    Conserved Domains (1) summary
    pfam02536
    Location:56369
    mTERF; mTERF
  3. NM_006980.5NP_008911.1  transcription termination factor 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_008911.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC003086, AK222730, BC130391, BU740531
    Consensus CDS
    CCDS5621.1
    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Related
    ENSP00000248643.3, ENST00000351870.8
    Conserved Domains (1) summary
    pfam02536
    Location:76389
    mTERF; mTERF

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    91870929..91880702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250593.4XP_005250650.1  transcription termination factor 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005250650.1

    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Conserved Domains (1) summary
    pfam02536
    Location:76389
    mTERF; mTERF
  2. XM_006716126.4XP_006716189.1  transcription termination factor 1, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006716189.1

    UniProtKB/Swiss-Prot
    A4D1E3, Q32NF8, Q53H51, Q99551, Q9BVR7
    UniProtKB/TrEMBL
    B2R952
    Conserved Domains (1) summary
    pfam02536
    Location:76389
    mTERF; mTERF
  3. XM_047420839.1XP_047276795.1  transcription termination factor 1, mitochondrial isoform X2

    UniProtKB/TrEMBL
    B4DPR9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93112226..93122026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359006.1XP_054214981.1  transcription termination factor 1, mitochondrial isoform X1

  2. XM_054359007.1XP_054214982.1  transcription termination factor 1, mitochondrial isoform X1

  3. XM_054359008.1XP_054214983.1  transcription termination factor 1, mitochondrial isoform X2