Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7978
Gene name	Mitochondrial transcription termination factor 1
Gene symbol	MTERF1
Synonyms (NCBI Gene)	MTERF
Chromosome	7
Chromosome location	7q21.2
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 do

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miRTarBase ID	miRNA	Experiments	Reference
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741536	hsa-miR-3942-5p	HITS-CLIP	23824327
MIRT741537	hsa-miR-4703-5p	HITS-CLIP	23824327
MIRT741538	hsa-miR-3908	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741540	hsa-miR-4766-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT741535	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT741539	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT741541	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT741542	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT741543	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT741544	hsa-miR-4446-5p	HITS-CLIP	23824327

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	20550934
GO:0003690	Function	Double-stranded DNA binding	TAS	9118945
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	20195357, 28514442, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9118945
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006353	Process	DNA-templated transcription termination	IDA	20550934
GO:0006353	Process	DNA-templated transcription termination	IEA
GO:0006353	Process	DNA-templated transcription termination	TAS	9118945
GO:0006393	Process	Termination of mitochondrial transcription	IBA
GO:0006393	Process	Termination of mitochondrial transcription	IDA	20550934
GO:0006393	Process	Termination of mitochondrial transcription	TAS	9118945
GO:0032392	Process	DNA geometric change	IDA	20550934
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578

MIM	HGNC	e!Ensembl
602318	21463	ENSG00000127989

Q99551

Protein name

Transcription termination factor 1, mitochondrial (Mitochondrial transcription termination factor 1) (mTERF) (mTERF1)

Protein function

Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termi

PDB

3MVA , 3MVB , 3N6S , 3N7Q , 5CKY , 5CO0 , 5CRJ , 5CRK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02536	mTERF	76 → 389	mTERF	Family

Sequence

MQSLSLGQTSISKGLNYLTIMAPGNLWHMRNNFLFGSRCWMTRFSAENIFKSVSFRLFGV
KCHNTDSEPLKNEDLLKNLLTMGVDIDMARKRQPGVFHRMITNEQDLKMFLLSKGASKEV
IASIISRYPRAITRTPENLSKRWDLWRKIVTSDLEIVNILERSPESFFRSNNNLNLENNI
KFLYSVGLTRKCLCRLLTNAPRTFSNSLDLNKQMVEFLQAAGLSLGHNDPADFVRKIIFK
NPFILIQSTKRVKANIEFLRSTFNLNSEELLVLICGPGAEILDLSNDYARRSYANIKEKL
FSLGCTEEEVQKFVLSYPDVIFLAEKKFNDKIDCLMEENISISQIIENPRVLDSSISTLK
SRIKELVNAGCNLSTLNITLLSWSKKRYEAKLKKLSRFA

Sequence length

399

Interactions

View interactions

	Reactome
			Mitochondrial transcription termination Transcriptional activation of mitochondrial biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	26400320	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	21447778	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	28931069, 36293209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	20550934, 36293209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	36293209	★★★★★ ★☆☆☆☆ Found in Text Mining only

MTERF1 (mitochondrial transcription termination factor 1)