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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9650
Gene name	Mitochondrial fission regulator 1
Gene symbol	MTFR1
Synonyms (NCBI Gene)	CHPPRFAM54A2
Chromosome	8
Chromosome location	8q13.1
Summary	This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene i

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051560	hsa-let-7e-5p	CLASH	23622248
MIRT037827	hsa-miR-455-3p	CLASH	23622248
MIRT036394	hsa-miR-1227-3p	CLASH	23622248
MIRT493064	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT225469	hsa-miR-3662	PAR-CLIP	23592263
MIRT225472	hsa-miR-6507-5p	PAR-CLIP	23592263
MIRT493063	hsa-miR-5683	PAR-CLIP	23592263
MIRT225466	hsa-miR-577	PAR-CLIP	23592263
MIRT493062	hsa-miR-4255	PAR-CLIP	23592263
MIRT225470	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT225465	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT225467	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT493061	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT493060	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT493059	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT493058	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT493057	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT493056	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT493055	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT493054	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT225468	hsa-miR-3658	PAR-CLIP	23592263
MIRT225471	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT472886	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT472885	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT472884	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT472883	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT472882	hsa-miR-1257	PAR-CLIP	23592263
MIRT493064	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT225469	hsa-miR-3662	PAR-CLIP	23592263
MIRT225472	hsa-miR-6507-5p	PAR-CLIP	23592263
MIRT493063	hsa-miR-5683	PAR-CLIP	23592263
MIRT225466	hsa-miR-577	PAR-CLIP	23592263
MIRT493062	hsa-miR-4255	PAR-CLIP	23592263
MIRT225470	hsa-miR-3944-5p	PAR-CLIP	23592263
MIRT225465	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT225467	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT493061	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT493060	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT493059	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT493058	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT493057	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT493056	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT493055	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT493054	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT225468	hsa-miR-3658	PAR-CLIP	23592263
MIRT225471	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT472886	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT472885	hsa-miR-4712-3p	PAR-CLIP	23592263
MIRT472884	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT472883	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT472882	hsa-miR-1257	PAR-CLIP	23592263
MIRT1163093	hsa-miR-216a	CLIP-seq
MIRT1163094	hsa-miR-2355-5p	CLIP-seq
MIRT1163095	hsa-miR-3671	CLIP-seq
MIRT1163096	hsa-miR-3679-3p	CLIP-seq
MIRT1163097	hsa-miR-371-5p	CLIP-seq
MIRT1163098	hsa-miR-371b-5p	CLIP-seq
MIRT1163099	hsa-miR-616	CLIP-seq
MIRT1163100	hsa-miR-4446-5p	CLIP-seq
MIRT1163101	hsa-miR-4793-5p	CLIP-seq
MIRT1163102	hsa-miR-501-5p	CLIP-seq
MIRT2046839	hsa-miR-1243	CLIP-seq
MIRT2046840	hsa-miR-1291	CLIP-seq
MIRT2046841	hsa-miR-1305	CLIP-seq
MIRT2046842	hsa-miR-1323	CLIP-seq
MIRT1163093	hsa-miR-216a	CLIP-seq
MIRT2046843	hsa-miR-31	CLIP-seq
MIRT2046844	hsa-miR-328	CLIP-seq
MIRT2046845	hsa-miR-34c-3p	CLIP-seq
MIRT2046846	hsa-miR-3654	CLIP-seq
MIRT1163095	hsa-miR-3671	CLIP-seq
MIRT1163097	hsa-miR-371-5p	CLIP-seq
MIRT2046847	hsa-miR-371b-3p	CLIP-seq
MIRT1163098	hsa-miR-371b-5p	CLIP-seq
MIRT2046848	hsa-miR-4661-5p	CLIP-seq
MIRT2046849	hsa-miR-548a-3p	CLIP-seq
MIRT2046850	hsa-miR-548e	CLIP-seq
MIRT2046851	hsa-miR-548f	CLIP-seq
MIRT2046852	hsa-miR-548o	CLIP-seq
MIRT2046853	hsa-miR-548p	CLIP-seq
MIRT2046854	hsa-miR-607	CLIP-seq
MIRT2046855	hsa-miR-875-3p	CLIP-seq
MIRT2046840	hsa-miR-1291	CLIP-seq
MIRT2275938	hsa-miR-200b	CLIP-seq
MIRT2275939	hsa-miR-200c	CLIP-seq
MIRT2046844	hsa-miR-328	CLIP-seq
MIRT2275940	hsa-miR-429	CLIP-seq
MIRT2046848	hsa-miR-4661-5p	CLIP-seq
MIRT2046853	hsa-miR-548p	CLIP-seq
MIRT2046840	hsa-miR-1291	CLIP-seq
MIRT2046844	hsa-miR-328	CLIP-seq
MIRT2046848	hsa-miR-4661-5p	CLIP-seq
MIRT2046853	hsa-miR-548p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000266	Process	Mitochondrial fission	IBA
GO:0000266	Process	Mitochondrial fission	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	10942595
GO:0007005	Process	Mitochondrion organization	ISS
GO:0009060	Process	Aerobic respiration	IBA
GO:0009060	Process	Aerobic respiration	IEA
GO:0009060	Process	Aerobic respiration	ISS

MIM	HGNC	e!Ensembl
619414	29510	ENSG00000066855

Q15390

Protein name

Mitochondrial fission regulator 1 (Chondrocyte protein with a poly-proline region)

Protein function

May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05308	Mito_fiss_reg	22 → 251	Mitochondrial fission regulator	Family

Sequence

MLGWIKRLIRMVFQQVGVSMQSVLWSRKPYGSSRSIVRKIGTNLSLIQCPRVQFQINSHA
TEWSPSHPGEDAVASFADVGWVAKEEGECSARLRTEVRSRPPLQDDLLFFEKAPSRQISL
PDLSQEEPQLKTPALANEEALQKICALENELAALRAQIAKIVTQQEQQNLTAGDLDSTTF
GTIPPHPPPPPPPLPPPALGLHQSTSAVDLIKERREKRANAGKTLVKNNPKKPEMPNMLE
ILKEMNSVKLRSVKRSEQDVKPKPVDATDPAALIAEALKKKFAYRYRSDSQDEVEKGIPK
SESEATSERVLFGPHMLKPTGKMKALIENVSDS

Sequence length

333

Interactions

View interactions

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 (2)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	31514295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	22054870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nerve Degeneration	Associate	22054870	★★★★★ ★☆☆☆☆ Found in Text Mining only

MTFR1 (mitochondrial fission regulator 1)