P39210 · MPV17_HUMAN
- ProteinProtein Mpv17
- GeneMPV17
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids176 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990).
Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297).
May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).
Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297).
May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 92 | Determines ion selectivity | ||||
Sequence: D |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Cellular Component | peroxisomal membrane | |
Cellular Component | peroxisome | |
Molecular Function | channel activity | |
Biological Process | cellular response to reactive oxygen species | |
Biological Process | glomerular basement membrane development | |
Biological Process | homeostatic process | |
Biological Process | inner ear development | |
Biological Process | mitochondrial genome maintenance | |
Biological Process | regulation of mitochondrial DNA metabolic process | |
Biological Process | regulation of reactive oxygen species metabolic process |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameProtein Mpv17
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP39210
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 18-38 | Helical | ||||
Sequence: VQVLTAGSLMGLGDIISQQLV | ||||||
Transmembrane | 53-73 | Helical | ||||
Sequence: TMVSLGCGFVGPVVGGWYKVL | ||||||
Transmembrane | 94-114 | Helical | ||||
Sequence: GGFAPCFLGCFLPLVGALNGL | ||||||
Transmembrane | 131-151 | Helical | ||||
Sequence: LITNYYLWPAVQLANFYLVPL |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Mitochondrial DNA depletion syndrome 6 (MTDPS6)
- Note
- DescriptionA disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.
- See alsoMIM:256810
Natural variants in MTDPS6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_082226 | 21 | L>R | in MTDPS6; uncertain significance; dbSNP:rs976220715 | |
VAR_082227 | 23 | A>P | in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts | |
VAR_082228 | 24 | G>W | in MTDPS6; uncertain significance; dbSNP:rs121909725 | |
VAR_082229 | 36 | Q>P | in MTDPS6; uncertain significance; dbSNP:rs762327729 | |
VAR_082231 | 41 | R>W | in MTDPS6; dbSNP:rs863224072 | |
VAR_082232 | 44-176 | missing | in MTDPS6 | |
VAR_026217 | 50 | R>Q | in MTDPS6; does not completely rescue iridophores loss in zebrafish 'tra' mutants; may cause protein instability and decay; dbSNP:rs121909721 | |
VAR_026218 | 50 | R>W | in MTDPS6; dbSNP:rs121909723 | |
VAR_082233 | 64 | P>R | in MTDPS6; dbSNP:rs375401970 | |
VAR_082234 | 66 | V>E | in MTDPS6; uncertain significance | |
VAR_082235 | 69-176 | missing | in MTDPS6 | |
VAR_082236 | 79-81 | missing | in MTDPS6; uncertain significance | |
VAR_076199 | 88 | K>E | in MTDPS6; dbSNP:rs267607256 | |
VAR_076200 | 88 | missing | in MTDPS6 | |
VAR_076201 | 91 | missing | in MTDPS6 | |
VAR_082237 | 92 | D>G | in MTDPS6 | |
VAR_082238 | 93 | Q>P | in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts | |
VAR_076202 | 94 | G>R | in MTDPS6; dbSNP:rs267607257 | |
VAR_082239 | 95 | G>D | in MTDPS6; uncertain significance; dbSNP:rs1260392202 | |
VAR_076203 | 98 | P>L | in MTDPS6 and CMT2EE; results in incomplete closing of the channel; dbSNP:rs267607258 | |
VAR_082240 | 99-176 | missing | in MTDPS6 | |
VAR_082241 | 120-176 | missing | in MTDPS6 | |
VAR_082242 | 136-176 | missing | in MTDPS6 | |
VAR_082243 | 154 | R>M | in MTDPS6; dbSNP:rs886044113 | |
VAR_076204 | 162 | A>D | in MTDPS6; dbSNP:rs267607259 | |
VAR_026219 | 166 | N>K | in MTDPS6; dbSNP:rs121909722 | |
VAR_082244 | 170 | S>F | in MTDPS6; dbSNP:rs267607260 |
Charcot-Marie-Tooth disease, axonal, 2EE (CMT2EE)
- Note
- DescriptionA recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement.
- See alsoMIM:618400
Natural variants in CMT2EE
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_082230 | 41 | R>Q | in CMT2EE; dbSNP:rs140992482 | |
VAR_076203 | 98 | P>L | in MTDPS6 and CMT2EE; results in incomplete closing of the channel; dbSNP:rs267607258 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_082226 | 21 | in MTDPS6; uncertain significance; dbSNP:rs976220715 | |||
Sequence: L → R | ||||||
Natural variant | VAR_082227 | 23 | in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts | |||
Sequence: A → P | ||||||
Natural variant | VAR_082228 | 24 | in MTDPS6; uncertain significance; dbSNP:rs121909725 | |||
Sequence: G → W | ||||||
Natural variant | VAR_082229 | 36 | in MTDPS6; uncertain significance; dbSNP:rs762327729 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_082230 | 41 | in CMT2EE; dbSNP:rs140992482 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_082231 | 41 | in MTDPS6; dbSNP:rs863224072 | |||
Sequence: R → W | ||||||
Natural variant | VAR_082232 | 44-176 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_026217 | 50 | in MTDPS6; does not completely rescue iridophores loss in zebrafish 'tra' mutants; may cause protein instability and decay; dbSNP:rs121909721 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_026218 | 50 | in MTDPS6; dbSNP:rs121909723 | |||
Sequence: R → W | ||||||
Natural variant | VAR_082233 | 64 | in MTDPS6; dbSNP:rs375401970 | |||
Sequence: P → R | ||||||
Natural variant | VAR_082234 | 66 | in MTDPS6; uncertain significance | |||
Sequence: V → E | ||||||
Natural variant | VAR_082235 | 69-176 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082236 | 79-81 | in MTDPS6; uncertain significance | |||
Sequence: Missing | ||||||
Mutagenesis | 80 | Does not affect gating properties of the channel. | ||||
Sequence: T → A | ||||||
Natural variant | VAR_076199 | 88 | in MTDPS6; dbSNP:rs267607256 | |||
Sequence: K → E | ||||||
Natural variant | VAR_076200 | 88 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_076201 | 91 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082237 | 92 | in MTDPS6 | |||
Sequence: D → G | ||||||
Mutagenesis | 92 | Affects ion selectivity of the channel. | ||||
Sequence: D → K | ||||||
Natural variant | VAR_082238 | 93 | in MTDPS6; results in altered ribonucleotide incorporation in mtDNA from patient fibroblasts | |||
Sequence: Q → P | ||||||
Natural variant | VAR_076202 | 94 | in MTDPS6; dbSNP:rs267607257 | |||
Sequence: G → R | ||||||
Natural variant | VAR_082239 | 95 | in MTDPS6; uncertain significance; dbSNP:rs1260392202 | |||
Sequence: G → D | ||||||
Natural variant | VAR_076203 | 98 | in MTDPS6 and CMT2EE; results in incomplete closing of the channel; dbSNP:rs267607258 | |||
Sequence: P → L | ||||||
Mutagenesis | 99 | Does not affect conductance and gating properties of the channel. | ||||
Sequence: C → A | ||||||
Natural variant | VAR_082240 | 99-176 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082241 | 120-176 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082242 | 136-176 | in MTDPS6 | |||
Sequence: Missing | ||||||
Natural variant | VAR_082243 | 154 | in MTDPS6; dbSNP:rs886044113 | |||
Sequence: R → M | ||||||
Natural variant | VAR_076204 | 162 | in MTDPS6; dbSNP:rs267607259 | |||
Sequence: A → D | ||||||
Natural variant | VAR_026219 | 166 | in MTDPS6; dbSNP:rs121909722 | |||
Sequence: N → K | ||||||
Natural variant | VAR_082244 | 170 | in MTDPS6; dbSNP:rs267607260 | |||
Sequence: S → F |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 261 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000218927 | 1-176 | Protein Mpv17 | |||
Sequence: MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL |
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.
Gene expression databases
Organism-specific databases
Structure
Sequence
- Sequence statusComplete
- Length176
- Mass (Da)19,733
- Last updated1995-02-01 v1
- Checksum5CD9A46F4498C4AB
Computationally mapped potential isoform sequences
There are 10 potential isoforms mapped to this entry
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
S68430 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68417 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68418 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68419 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68420 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68421 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S68422 EMBL· GenBank· DDBJ | AAD14014.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
X76538 EMBL· GenBank· DDBJ | CAA54047.1 EMBL· GenBank· DDBJ | mRNA | ||
HQ205986 EMBL· GenBank· DDBJ | ADP91854.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205987 EMBL· GenBank· DDBJ | ADP91855.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205988 EMBL· GenBank· DDBJ | ADP91856.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205989 EMBL· GenBank· DDBJ | ADP91857.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205990 EMBL· GenBank· DDBJ | ADP91858.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205991 EMBL· GenBank· DDBJ | ADP91859.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205992 EMBL· GenBank· DDBJ | ADP91860.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205993 EMBL· GenBank· DDBJ | ADP91861.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205994 EMBL· GenBank· DDBJ | ADP91862.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205995 EMBL· GenBank· DDBJ | ADP91863.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205996 EMBL· GenBank· DDBJ | ADP91864.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205997 EMBL· GenBank· DDBJ | ADP91865.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205998 EMBL· GenBank· DDBJ | ADP91866.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ205999 EMBL· GenBank· DDBJ | ADP91867.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206000 EMBL· GenBank· DDBJ | ADP91868.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206001 EMBL· GenBank· DDBJ | ADP91869.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206002 EMBL· GenBank· DDBJ | ADP91870.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206003 EMBL· GenBank· DDBJ | ADP91871.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206004 EMBL· GenBank· DDBJ | ADP91872.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206005 EMBL· GenBank· DDBJ | ADP91873.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206006 EMBL· GenBank· DDBJ | ADP91874.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206007 EMBL· GenBank· DDBJ | ADP91875.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206008 EMBL· GenBank· DDBJ | ADP91876.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206009 EMBL· GenBank· DDBJ | ADP91877.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206010 EMBL· GenBank· DDBJ | ADP91878.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206011 EMBL· GenBank· DDBJ | ADP91879.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206012 EMBL· GenBank· DDBJ | ADP91880.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206013 EMBL· GenBank· DDBJ | ADP91881.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206014 EMBL· GenBank· DDBJ | ADP91882.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206015 EMBL· GenBank· DDBJ | ADP91883.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206016 EMBL· GenBank· DDBJ | ADP91884.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206017 EMBL· GenBank· DDBJ | ADP91885.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206018 EMBL· GenBank· DDBJ | ADP91886.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206019 EMBL· GenBank· DDBJ | ADP91887.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206020 EMBL· GenBank· DDBJ | ADP91888.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206021 EMBL· GenBank· DDBJ | ADP91889.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206022 EMBL· GenBank· DDBJ | ADP91890.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206023 EMBL· GenBank· DDBJ | ADP91891.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206024 EMBL· GenBank· DDBJ | ADP91892.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HQ206025 EMBL· GenBank· DDBJ | ADP91893.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC013413 EMBL· GenBank· DDBJ | AAY24298.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471053 EMBL· GenBank· DDBJ | EAX00600.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471053 EMBL· GenBank· DDBJ | EAX00602.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC001115 EMBL· GenBank· DDBJ | AAH01115.1 EMBL· GenBank· DDBJ | mRNA | ||
BC016289 EMBL· GenBank· DDBJ | AAH16289.2 EMBL· GenBank· DDBJ | mRNA |