MPV17L

Summary

MPV17L (MPV17 mitochondrial inner membrane protein like, HGNC:26827) is a protein-coding gene on chromosome 16p13.11, encoding Mpv17-like protein (Q2QL34). Participates in reactive oxygen species metabolism by up- or down-regulation of the genes of antioxidant enzymes.

Involved in negative regulation of hydrogen peroxide biosynthetic process; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; and reactive oxygen species metabolic process. Located in peroxisome.

Source: NCBI Gene 255027 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 70 total — 6 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_001128423

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26827
Approved symbol	MPV17L
Name	MPV17 mitochondrial inner membrane protein like
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39599, M-LPH, M-LPH1, M-LPH2, MPV17L1
Ensembl gene	ENSG00000156968
Ensembl biotype	protein_coding
OMIM	618100
Entrez	255027

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000287594, ENST00000396385, ENST00000564148

RefSeq mRNA: 2 — MANE Select: NM_001128423 NM_001128423, NM_173803

CCDS: CCDS10560, CCDS45421

Canonical transcript exons

ENST00000396385 — 4 exons

Exon	Start	End
ENSE00001782714	15407933	15413271
ENSE00003501440	15395754	15396207
ENSE00003601184	15400787	15400857
ENSE00003619091	15407824	15407853

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 84.38.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1320 / max 136.7250, expressed in 661 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
152892	1.0126	312
152889	0.9666	399
152890	0.8226	319
152891	0.3302	157

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	84.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.27	gold quality
skeletal muscle tissue	UBERON:0001134	82.70	gold quality
gastrocnemius	UBERON:0001388	82.14	gold quality
skeletal muscle organ	UBERON:0014892	82.02	gold quality
muscle of leg	UBERON:0001383	82.00	gold quality
pancreas	UBERON:0001264	81.65	gold quality
calcaneal tendon	UBERON:0003701	81.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.14	silver quality
liver	UBERON:0002107	79.83	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.80	gold quality
muscle tissue	UBERON:0002385	79.40	gold quality
endometrium	UBERON:0001295	77.07	gold quality
corpus callosum	UBERON:0002336	76.80	gold quality
minor salivary gland	UBERON:0001830	76.76	gold quality
primary visual cortex	UBERON:0002436	76.68	gold quality
right lobe of liver	UBERON:0001114	76.42	gold quality
duodenum	UBERON:0002114	76.34	gold quality
superior frontal gyrus	UBERON:0002661	76.11	gold quality
islet of Langerhans	UBERON:0000006	75.86	gold quality
saliva-secreting gland	UBERON:0001044	75.62	gold quality
sural nerve	UBERON:0015488	75.03	gold quality
kidney	UBERON:0002113	75.01	gold quality
adrenal tissue	UBERON:0018303	74.97	gold quality
cortex of kidney	UBERON:0001225	74.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	74.45	gold quality
cerebellum	UBERON:0002037	74.40	gold quality
cerebellar cortex	UBERON:0002129	74.34	gold quality
cerebellar hemisphere	UBERON:0002245	74.18	gold quality
mucosa of stomach	UBERON:0001199	74.14	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-46	yes	15.54
E-MTAB-6678	yes	5.42
E-MTAB-6911	no	57.03
E-MTAB-7606	no	35.79
E-ANND-3	no	2.40

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF205

miRNA regulators (miRDB)

79 targeting MPV17L, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-30B-3P	99.70	65.76	2325

Literature-anchored findings (GeneRIF, showing 2)

• these observations suggest that M-LPH is involved in the maintenance of mtDNA and protects cells from mitochondrial dysfunction. (PMID:26165189)
• Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix. (PMID:32621840)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mpv17l	ENSDARG00000104457
mus_musculus	Mpv17l	ENSMUSG00000022679
rattus_norvegicus	Mpv17l	ENSRNOG00000003285
drosophila_melanogaster	CG14777	FBGN0026872
drosophila_melanogaster	CG14778	FBGN0029580
drosophila_melanogaster	plh	FBGN0037292

Paralogs (3): MPV17 (ENSG00000115204), PXMP2 (ENSG00000176894), MPV17L2 (ENSG00000254858)

Protein

Protein identifiers

Mpv17-like protein — Q2QL34 (reviewed: Q2QL34)

Alternative names: M-LP homolog

All UniProt accessions (2): Q2QL34, H3BT45

UniProt curated annotations — full annotation on UniProt →

Function. Participates in reactive oxygen species metabolism by up- or down-regulation of the genes of antioxidant enzymes. Protective against the mitochondrial apoptotic cascade.

Subcellular location. Peroxisome membrane.

Tissue specificity. Isoform 1 is detected in the kidney (at protein level). Isoform 1 and isoform 2 are expressed in the kidney, heart, liver, lung, pancreas and skeletal muscle.

Similarity. Belongs to the peroxisomal membrane protein PXMP2/4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2QL34-1	1, M-LPH1	yes
Q2QL34-2	2, M-LPH2

RefSeq proteins (2): NP_001121895, NP_776164 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007248	Mpv17_PMP22	Family

Pfam: PF04117

UniProt features (14 total): topological domain 5, transmembrane region 4, splice variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2QL34-F1	85.99	0.64

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 95 (showing top): GOBP_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_MITOCHONDRIAL_OUTER_MEMBRANE_PERMEABILIZATION_INVOLVED_IN_APOPTOTIC_SIGNALING_PATHWAY, GOCC_MICROBODY_MEMBRANE, GOBP_MEMBRANE_ORGANIZATION, GOBP_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HYDROGEN_PEROXIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_TRANSPORT

GO Biological Process (3): negative regulation of hydrogen peroxide biosynthetic process (GO:0010730), reactive oxygen species metabolic process (GO:0072593), negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)

GO Molecular Function (0):

GO Cellular Component (5): cytoplasm (GO:0005737), mitochondrion (GO:0005739), peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
negative regulation of hydrogen peroxide metabolic process	1
regulation of hydrogen peroxide biosynthetic process	1
hydrogen peroxide biosynthetic process	1
negative regulation of reactive oxygen species biosynthetic process	1
metabolic process	1
negative regulation of organelle organization	1
negative regulation of mitochondrial membrane permeability	1
mitochondrial outer membrane permeabilization	1
regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	1
negative regulation of apoptotic signaling pathway	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
microbody	1
peroxisome	1
microbody membrane	1

Protein interactions and networks

STRING

440 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MPV17L	PDXDC1	Q6P996	667
MPV17L	CEP20	Q96NB1	660
MPV17L	MARF1	Q9Y4F3	630
MPV17L	HTRA2	O43464	586
MPV17L	RRN3	Q9NYV6	575
MPV17L	NTAN1	Q96AB6	575
MPV17L	NDE1	Q9NXR1	517
MPV17L	BMERB1	Q96MC5	507
MPV17L	ABCC6	P78420	493
MPV17L	NOMO3	P69849	447
MPV17L	NPIPA5	E9PKD4	419
MPV17L	ZNF205	O95201	419
MPV17L	TEKT5	Q96M29	387
MPV17L	EBLN2	Q6P2I7	367
MPV17L	PCMTD2	Q9NV79	361
MPV17L	RASA3	Q14644	361

IntAct

0 interactions, top by confidence:

BioGRID (3): MPV17L (Protein-peptide), MPV17L (Affinity Capture-RNA), APP (Reconstituted Complex)

ESM2 similar proteins: A2RVP7, A5PJL1, A6QP55, F4I8Q7, P0CR88, P0CR89, P59382, P61803, P61804, P61805, P61806, Q1L9A2, Q29036, Q2KIK2, Q2KIY1, Q2QL34, Q32LG5, Q38820, Q3ZBE6, Q3ZBX1, Q5E9C2, Q5EA43, Q5RD16, Q5U4F4, Q5XF36, Q5XI60, Q5XK94, Q641S2, Q68FV1, Q6DIY8, Q6GQ39, Q6INU6, Q6NYK8, Q7T2P6, Q7ZVP8, Q86UB9, Q8IN78, Q8R2R1, Q91V61, Q925N2

Diamond homologs: A5D787, O14142, Q10244, Q2KIK2, Q2KIN6, Q2QL34, Q4IPX8, Q4WDZ0, Q54FR4, Q54GD8, Q54XX9, Q567V2, Q68F62, Q6BMY0, Q6CAW5, Q6DGV7, Q6DIY8, Q6FXJ3, Q754F0, Q7SCY7, Q8VIK2, Q99MS3, Q9V492, P0CQ38, P0CQ39, Q06563, Q08743, Q59Q43, Q66GV0, Q6CIY7, P19258, P39210, Q2TXA2, Q4P9K6, Q5BK62, Q5TZ51, Q60SZ2, Q7YWV6, Q9ZS51, Q2KIY1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	3
Uncertain significance	45
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1339967	GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1	Pathogenic
1340567	GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1	Pathogenic
3024599	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1	Pathogenic
625568	GRCh37/hg19 16p13.11(chr16:14975292-16289532)	Pathogenic
625571	GRCh37/hg19 16p13.11(chr16:15395312-16210889)	Pathogenic
831592	NC_000016.10:g.(?15395898)(15888585_?)del	Pathogenic
1879351	GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3	Likely pathogenic
3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	Likely pathogenic
929344	GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3	Likely pathogenic

SpliceAI

416 predictions. Top by Δscore:

Variant	Effect	Δscore
16:15396204:GTCG:G	donor_gain	1.0000
16:15400772:G:A	acceptor_gain	1.0000
16:15400857:GGTAA:G	donor_loss	1.0000
16:15400858:G:GA	donor_loss	1.0000
16:15400859:T:A	donor_loss	1.0000
16:15407816:A:AG	acceptor_gain	1.0000
16:15396203:TGTCG:T	donor_loss	0.9900
16:15396207:GGTG:G	donor_loss	0.9900
16:15396208:G:GG	donor_gain	0.9900
16:15400771:T:TA	acceptor_gain	0.9900
16:15400782:A:G	acceptor_gain	0.9900
16:15400783:ATAGG:A	acceptor_loss	0.9900
16:15400784:TAGG:T	acceptor_loss	0.9900
16:15400785:AGGT:A	acceptor_loss	0.9900
16:15400786:G:T	acceptor_loss	0.9900
16:15400858:G:GG	donor_gain	0.9900
16:15400863:A:G	donor_gain	0.9900
16:15407817:A:G	acceptor_gain	0.9900
16:15407819:TCCA:T	acceptor_loss	0.9900
16:15407820:CCAGA:C	acceptor_loss	0.9900
16:15407821:CAGAG:C	acceptor_loss	0.9900
16:15407822:A:AG	acceptor_gain	0.9900
16:15407823:G:GC	acceptor_loss	0.9900
16:15407823:G:GG	acceptor_gain	0.9900
16:15407931:A:AG	acceptor_gain	0.9900
16:15407932:G:GG	acceptor_gain	0.9900
16:15407932:GC:G	acceptor_gain	0.9900
16:15407932:GCT:G	acceptor_gain	0.9900
16:15400781:A:AG	acceptor_gain	0.9800
16:15400786:GGTAT:G	acceptor_gain	0.9800

AlphaMissense

1251 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:15396198:T:C	F101L	0.988
16:15396200:C:A	F101L	0.988
16:15396200:C:G	F101L	0.988
16:15407942:T:C	F141L	0.980
16:15407944:C:A	F141L	0.980
16:15407944:C:G	F141L	0.980
16:15396152:G:C	K85N	0.979
16:15396152:G:T	K85N	0.979
16:15407836:T:G	Y132D	0.977
16:15407952:T:A	V144D	0.973
16:15407968:A:C	R149S	0.973
16:15407968:A:T	R149S	0.973
16:15396080:C:A	N61K	0.972
16:15396080:C:G	N61K	0.972
16:15407941:C:A	N140K	0.972
16:15407941:C:G	N140K	0.972
16:15407841:G:C	W133C	0.968
16:15407841:G:T	W133C	0.968
16:15407987:T:C	C156R	0.968
16:15407999:T:A	W160R	0.963
16:15407999:T:C	W160R	0.963
16:15407943:T:C	F141S	0.962
16:15407967:G:C	R149T	0.962
16:15407839:T:A	W133R	0.959
16:15407839:T:C	W133R	0.959
16:15396093:T:A	W66R	0.958
16:15396093:T:C	W66R	0.958
16:15407982:G:A	G154E	0.958
16:15395970:G:C	G25R	0.954
16:15400840:T:C	F122L	0.954

dbSNP variants (sampled 300 via entrez): RS1000141283 (16:15409892 C>A), RS1000415496 (16:15397385 T>G), RS1000704784 (16:15404020 G>A,T), RS1000903839 (16:15413598 C>T), RS1001271030 (16:15402625 C>A), RS1001414640 (16:15395835 G>A,C), RS1001518857 (16:15408917 G>T), RS1001875131 (16:15412722 G>A,C), RS1001991086 (16:15412980 G>C), RS1002116403 (16:15408815 C>T), RS1002129379 (16:15399826 C>T), RS1002304291 (16:15400609 C>T), RS1002461905 (16:15394998 A>G), RS1002512819 (16:15412224 T>G), RS1002555848 (16:15407173 A>G,T)

Disease associations

OMIM: gene MIM:618100 | disease phenotypes: MIM:132900

GenCC curated gene-disease

Mondo (1): aortic aneurysm, familial thoracic 4 (MONDO:0007568)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004635_31	Testicular germ cell tumor	8.000000e-13

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537784	Aortic aneurysm, familial thoracic 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, increases abundance	2
dicrotophos	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
nickel sulfate	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Coal	increases expression, increases abundance	1
Dimethyl Sulfoxide	decreases expression	1
Estradiol	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Sodium Selenite	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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