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MTERF4 mitochondrial transcription termination factor 4 [ Homo sapiens (human) ]

Gene ID: 130916, updated on 2-Nov-2024

Summary

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Official Symbol
MTERF4provided by HGNC
Official Full Name
mitochondrial transcription termination factor 4provided by HGNC
Primary source
HGNC:HGNC:28785
See related
Ensembl:ENSG00000122085 MIM:615393; AllianceGenome:HGNC:28785
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
MTERFD2
Summary
Enables rRNA binding activity. Predicted to be involved in mitochondrial ribosome assembly and mitochondrial transcription. Predicted to act upstream of or within several processes, including camera-type eye development; protein targeting to mitochondrion; and ribosome assembly. Located in cytosol and mitochondrion. Part of mitochondrial large ribosomal subunit. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See MTERF4 in Genome Data Viewer
Location:
2q37.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241042586..241102287, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241539417..241601395, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242011583..242041702, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241922772-241923279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241923280-241923786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12525 Neighboring gene uncharacterized LOC107985787 Neighboring gene TWIST1 associated long noncoding RNA regulated by androgen receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241949545-241950150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241950151-241950754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957354-241957854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957855-241958355 Neighboring gene SNED1 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57691 Neighboring gene sushi, nidogen and EGF like domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241973517-241974460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241974461-241975402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241975403-241976346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242012857-242013373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242040949-242041488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242041489-242042028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57723 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17417 Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242079269-242079769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12529 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242097726-242098226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242106157-242106656 Neighboring gene uncharacterized LOC105373971 Neighboring gene protein phosphatase 1 regulatory subunit 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242125644-242126166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242127362-242128046

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis. Spåhr H, et al. Proc Natl Acad Sci U S A, 2012 Sep 18. PMID 22949673, Free PMC Article
  2. A family of putative transcription termination factors shared amongst metazoans and plants. Linder T, et al. Curr Genet, 2005 Oct. PMID 16193327
  3. Structure of the essential MTERF4:NSUN4 protein complex reveals how an MTERF protein collaborates to facilitate rRNA modification. Yakubovskaya E, et al. Structure, 2012 Nov 7. PMID 23022348, Free PMC Article
  4. Overexpression of MTERF4 promotes the amyloidogenic processing of APP by inhibiting ADAM10. Wang XL, et al. Biochem Biophys Res Commun, 2017 Jan 22. PMID 27894840
  5. MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cámara Y, et al. Cell Metab, 2011 May 4. PMID 21531335

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16261, MGC61716

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables rRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
  
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial ribosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting to mitochondrion IEA
Inferred from Electronic Annotation
more info
  
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
part_of mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
transcription termination factor 4, mitochondrial
Names
MTERF domain-containing protein 2

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_001330179.2 → NP_001317108.1  transcription termination factor 4, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK294192, BQ026011
    Consensus CDS
    CCDS82584.1
    UniProtKB/TrEMBL
    B4DFP7
    Related
    ENSP00000384998.1, ENST00000406593.1

  2. NM_001330180.2 → NP_001317109.1  transcription termination factor 4, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005237

  3. NM_182501.4 → NP_872307.2  transcription termination factor 4, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_872307.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA907534, BC053533, BM454834, DA496994
    Consensus CDS
    CCDS2544.1
    UniProtKB/Swiss-Prot
    A8K6K0, Q7Z6M4, Q9P0E0
    Related
    ENSP00000375840.2, ENST00000391980.7
    Conserved Domains (1) summary
    cl19765
    Location:91 → 187
    mTERF

RNA

  1. NR_028049.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents several additional exons at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF161359, AK055474, AK131298, BX648184

  2. NR_028050.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate 3' splice pattern, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK055474, AK093695, BX648184, DA496994
    Related
    ENST00000455202.6

  3. NR_028051.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three alternate exons and represents an alternate 3' splice pattern, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK055474, BX648184, DB256263

  4. NR_138463.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237

  5. NR_138464.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237

  6. NR_138465.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237

  7. NR_138466.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005237

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    241042586..241102287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443428.1 → XP_047299384.1  transcription termination factor 4, mitochondrial isoform X1

  2. XM_047443427.1 → XP_047299383.1  transcription termination factor 4, mitochondrial isoform X1

    Related
    ENST00000464344.6

  3. XM_047443429.1 → XP_047299385.1  transcription termination factor 4, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241539417..241601395 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340600.1 → XP_054196575.1  transcription termination factor 4, mitochondrial isoform X1

  2. XM_054340599.1 → XP_054196574.1  transcription termination factor 4, mitochondrial isoform X1

  3. XM_054340601.1 → XP_054196576.1  transcription termination factor 4, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6M4.3 GenPept UniProtKB/Swiss-Prot:Q7Z6M4

Gene LinkOut

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