MTFP1

Summary

MTFP1 (mitochondrial fission process 1, HGNC:26945) is a protein-coding gene on chromosome 22q12.2, encoding Mitochondrial fission process protein 1 (Q9UDX5). Involved in the mitochondrial division probably by regulating membrane fission.

MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).

Source: NCBI Gene 51537 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 34 total
• MANE Select transcript: NM_016498

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26945
Approved symbol	MTFP1
Name	mitochondrial fission process 1
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	MTP18, HSPC242
Ensembl gene	ENSG00000242114
Ensembl biotype	protein_coding
OMIM	610235
Entrez	51537

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000266263, ENST00000355143, ENST00000407550, ENST00000412752, ENST00000614920, ENST00000629597, ENST00000862422, ENST00000933114, ENST00000933115, ENST00000933116

RefSeq mRNA: 2 — MANE Select: NM_016498 NM_001003704, NM_016498

CCDS: CCDS33634, CCDS33635

Canonical transcript exons

ENST00000266263 — 4 exons

Exon	Start	End
ENSE00001818761	30425768	30425946
ENSE00001920444	30428462	30429054
ENSE00003627770	30426717	30426844
ENSE00003682123	30427171	30427403

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 93.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6794 / max 86.2846, expressed in 1752 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191685	9.0922	1692
191686	3.7397	1391
191684	0.8476	542

Top tissues by expression

138 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	93.57	gold quality
apex of heart	UBERON:0002098	92.08	gold quality
adult mammalian kidney	UBERON:0000082	90.13	gold quality
lower esophagus mucosa	UBERON:0035834	90.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.99	gold quality
heart left ventricle	UBERON:0002084	88.65	gold quality
cortex of kidney	UBERON:0001225	87.99	gold quality
metanephros cortex	UBERON:0010533	87.90	gold quality
gastrocnemius	UBERON:0001388	87.16	gold quality
right atrium auricular region	UBERON:0006631	87.08	gold quality
right lobe of liver	UBERON:0001114	86.79	gold quality
esophagus mucosa	UBERON:0002469	86.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.36	gold quality
duodenum	UBERON:0002114	86.16	gold quality
kidney	UBERON:0002113	86.03	gold quality
spleen	UBERON:0002106	85.98	gold quality
heart	UBERON:0000948	85.75	gold quality
lymph node	UBERON:0000029	85.51	gold quality
muscle of leg	UBERON:0001383	85.26	gold quality
transverse colon	UBERON:0001157	85.24	gold quality
body of stomach	UBERON:0001161	85.24	gold quality
granulocyte	CL:0000094	84.97	gold quality
skeletal muscle organ	UBERON:0014892	84.92	gold quality
placenta	UBERON:0001987	84.63	gold quality
blood	UBERON:0000178	84.45	gold quality
body of pancreas	UBERON:0001150	84.18	gold quality
right adrenal gland	UBERON:0001233	83.69	gold quality
left adrenal gland	UBERON:0001234	83.62	gold quality
bone marrow cell	CL:0002092	83.22	gold quality
right adrenal gland cortex	UBERON:0035827	83.18	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting MTFP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-5196-3P	97.57	65.98	979
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-3157-5P	97.41	67.61	998
HSA-MIR-1245A	96.33	66.25	498

Literature-anchored findings (GeneRIF, showing 7)

• MTP18 mRNA as well as protein expression is dependent on PI 3-kinase activity. (PMID:15155745)
• the results suggest that miR-668 is induced via HIF-1 in ischemic AKI and that, upon induction, miR-668 represses MTP18 to preserve mitochondrial dynamics for renal tubular cell survival and kidney protection. (PMID:30325740)
• MTFP1 overexpression promotes the growth of oral squamous cell carcinoma by inducing ROS production. (PMID:31814213)
• MiR-125b-5p Targets MTFP1 to Inhibit Cell Proliferation, Migration, and Invasion and Facilitate Cell Apoptosis in Endometrial Carcinoma. (PMID:36380260)
• The inner mitochondrial membrane fission protein MTP18 serves as a mitophagy receptor to prevent apoptosis in oral cancer. (PMID:37313742)
• Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models. (PMID:38042218)
• MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levels. (PMID:38851188)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	MTFP1	ENSDARG00000099908
mus_musculus	Mtfp1	ENSMUSG00000004748
rattus_norvegicus	Mtfp1	ENSRNOG00000004640
drosophila_melanogaster	CG7772	FBGN0030883
caenorhabditis_elegans		WBGENE00077690

Protein

Protein identifiers

Mitochondrial fission process protein 1 — Q9UDX5 (reviewed: Q9UDX5)

Alternative names: Mitochondrial 18 kDa protein

All UniProt accessions (3): B5MC22, Q9UDX5, F8WEN7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis.

Subcellular location. Mitochondrion inner membrane.

Induction. Expression is regulated by the phosphatidylinositol (PI) 3-kinase pathway.

Similarity. Belongs to the MTFP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UDX5-1	1	yes
Q9UDX5-2	2

RefSeq proteins (2): NP_001003704, NP_057582* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019560	Mitochondrial_18_kDa_protein_	Family

Pfam: PF10558

UniProt features (7 total): transmembrane region 3, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UDX5-F1	86.86	0.68

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 123

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 95 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, YY1_Q6, GOBP_ORGANELLE_FISSION, GOBP_MITOCHONDRIAL_FISSION, YY1_02, GOCC_MITOCHONDRIAL_ENVELOPE, DOUGLAS_BMI1_TARGETS_UP, GOCC_ORGANELLE_INNER_MEMBRANE, MYCMAX_03, ATGGYGGA_UNKNOWN, CHEN_METABOLIC_SYNDROM_NETWORK, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GOCC_ORGANELLE_ENVELOPE

GO Biological Process (3): mitochondrial fission (GO:0000266), apoptotic process (GO:0006915), mitochondrion organization (GO:0007005)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion organization	1
organelle fission	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
organelle organization	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTFP1	DNM1L	O00429	900
MTFP1	PIK3CB	P42338	650
MTFP1	FIS1	Q9Y3D6	564
MTFP1	CYCS	P00001	548
MTFP1	MFF	Q9GZY8	507
MTFP1	MFN1	Q8IWA4	490
MTFP1	MFN2	O95140	488
MTFP1	MIEF2	Q96C03	479
MTFP1	MIEF1	Q9NQG6	452
MTFP1	GDAP1	Q8TB36	442
MTFP1	TFRC	P02786	441
MTFP1	PIK3CA	P42336	440
MTFP1	PINK1	Q9BXM7	434
MTFP1	PIK3CG	P48736	425
MTFP1	SNX15	Q9NRS6	420

IntAct

51 interactions, top by confidence:

A	B	Type	Score
MTFP1	OPTN	psi-mi:“MI:0915”(physical association)	0.560
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
TMEM108	TCAF2	psi-mi:“MI:0914”(association)	0.530
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
MTFP1	CDKN2D	psi-mi:“MI:0915”(physical association)	0.400
SMR3B	MTFP1	psi-mi:“MI:0915”(physical association)	0.400
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
TM2D3	DDX39A	psi-mi:“MI:0914”(association)	0.350
OPRM1	EXOC5	psi-mi:“MI:0914”(association)	0.350
NCEH1	C1QL1	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
ERGIC3	TMEM223	psi-mi:“MI:0914”(association)	0.350
SV2A	ILVBL	psi-mi:“MI:0914”(association)	0.350
MLNR	NBAS	psi-mi:“MI:0914”(association)	0.350
LRRC25	POTEF	psi-mi:“MI:0914”(association)	0.350
MAGEA8	METTL15	psi-mi:“MI:0914”(association)	0.350
OPRL1	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
AQP3	RTL8C	psi-mi:“MI:0914”(association)	0.350
KCNE1	GPR89A	psi-mi:“MI:0914”(association)	0.350
CMTM8	UBXN8	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Affinity Capture-MS), MTFP1 (Proximity Label-MS)

ESM2 similar proteins: A0A067XMT5, A0A0E3D8L0, A0A0M4KRN2, A0A140JWS9, A0A194XJW1, A0A1V6NWP3, A0A1V6NYL5, A0A1W5T1Y3, A0A2I1C3V3, A0A411PQQ5, A0A455LLW3, A0A455LLW7, A0A455M7R7, A0A455R4Z0, A0A4P8DK01, A0A7L9EYL3, A0A8F4NWB9, A0A8F4S8P5, A4DA06, A4DA85, A7THN6, A9JPE4, B0D4E6, B8NI03, C5DRF7, D2E9W6, E3UBL5, G0LET6, I1RAL7, M1VWN5, M2WJF5, M3APK4, P0CM32, P0CM33, P0DOB2, P0DXW0, P9WEG7, P9WEV9, Q06089, Q0C9L5

Diamond homologs: B6IJ52, Q6PCS6, Q8T3C8, Q9CRB8, Q9UDX5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EIF4E	“up-regulates activity”	MTFP1	“translation regulation”
MTFP1	“up-regulates activity”	DNM1L	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

725 predictions. Top by Δscore:

Variant	Effect	Δscore
22:30426712:CCCA:C	acceptor_loss	1.0000
22:30426713:CCA:C	acceptor_loss	1.0000
22:30426714:CA:C	acceptor_loss	1.0000
22:30426716:GGCT:G	acceptor_gain	1.0000
22:30426842:GAG:G	donor_gain	1.0000
22:30426843:AGG:A	donor_loss	1.0000
22:30426845:G:A	donor_loss	1.0000
22:30426845:G:GG	donor_gain	1.0000
22:30426845:GT:G	donor_loss	1.0000
22:30426846:T:A	donor_loss	1.0000
22:30426715:A:AG	acceptor_gain	0.9900
22:30426715:A:AT	acceptor_loss	0.9900
22:30426715:AG:A	acceptor_gain	0.9900
22:30426716:G:GA	acceptor_gain	0.9900
22:30426716:G:GG	acceptor_gain	0.9900
22:30426716:GG:G	acceptor_gain	0.9900
22:30426716:GGC:G	acceptor_gain	0.9900
22:30426840:GAGAG:G	donor_gain	0.9900
22:30427302:T:G	acceptor_gain	0.9900
22:30427400:ACAG:A	donor_loss	0.9900
22:30427400:ACAGG:A	donor_loss	0.9900
22:30427401:CAG:C	donor_loss	0.9900
22:30427402:AG:A	donor_loss	0.9900
22:30427404:G:A	donor_loss	0.9900
22:30427404:GT:G	donor_loss	0.9900
22:30427405:T:G	donor_loss	0.9900
22:30428457:TACA:T	acceptor_loss	0.9900
22:30428459:CA:C	acceptor_loss	0.9900
22:30428460:AGGTC:A	acceptor_gain	0.9900
22:30428461:G:A	acceptor_loss	0.9900

AlphaMissense

1045 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:30426779:A:C	S44R	0.996
22:30426781:C:A	S44R	0.996
22:30426781:C:G	S44R	0.996
22:30425946:G:C	G23R	0.993
22:30427247:C:A	A91D	0.993
22:30426794:A:C	S49R	0.991
22:30426796:C:A	S49R	0.991
22:30426796:C:G	S49R	0.991
22:30427234:T:A	W87R	0.991
22:30427234:T:C	W87R	0.991
22:30427236:G:C	W87C	0.991
22:30427236:G:T	W87C	0.991
22:30427259:T:A	I95N	0.991
22:30427280:G:C	R102P	0.991
22:30426815:G:C	A56P	0.990
22:30426735:G:A	G29D	0.989
22:30427400:A:T	D142V	0.989
22:30426717:G:A	G23D	0.988
22:30427376:T:A	I134N	0.988
22:30427397:T:A	I141N	0.988
22:30427400:A:C	D142A	0.988
22:30427364:G:A	G130E	0.987
22:30427249:T:C	S92P	0.986
22:30427265:G:A	G97D	0.986
22:30427223:A:T	D83V	0.985
22:30427262:C:A	P96Q	0.984
22:30426719:T:C	Y24H	0.983
22:30426734:G:C	G29R	0.983
22:30427274:T:A	I100N	0.983
22:30427363:G:A	G130R	0.983

dbSNP variants (sampled 300 via entrez): RS1000214975 (22:30428396 C>G,T), RS1000696529 (22:30424827 G>T), RS1001144713 (22:30429148 A>G), RS1001513656 (22:30429375 A>G), RS1001762819 (22:30427709 T>G), RS1001964669 (22:30426010 G>A,C), RS1002315552 (22:30425823 G>C), RS1002546543 (22:30425942 C>G,T), RS1002628727 (22:30428789 C>T), RS1002765650 (22:30426276 A>C), RS1002984934 (22:30428563 G>A), RS1003769389 (22:30424994 T>C), RS1004287938 (22:30427108 G>A), RS1004319297 (22:30426834 A>C,G), RS1004457212 (22:30425623 A>C)

Disease associations

OMIM: gene MIM:610235 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001585_24	Breast size	4.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	4
Nickel	increases expression	2
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	decreases expression	2
chloroacetaldehyde	increases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Cidofovir	increases expression	1
Arsenic	affects methylation	1
Cisplatin	increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Diuron	decreases expression	1
Estradiol	increases expression	1
Ibuprofen	increases expression	1
Ifosfamide	increases expression	1
Ivermectin	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1XT	Abcam HeLa MTFP1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.