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0  structures 755  species 0  interactions 3651  sequences 81  architectures

Family: Mpv17_PMP22 (PF04117)

Summary: Mpv17 / PMP22 family

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Mpv17 / PMP22 family Provide feedback

The 22-kDa peroxisomal membrane protein (PMP22) is a major component of peroxisomal membranes. PMP22 seems to be involved in pore forming activity and may contribute to the unspecific permeability of the organelle membrane. PMP22 is synthesised on free cytosolic ribosomes and then directed to the peroxisome membrane by specific targeting information [1]. Mpv17 is a closely related peroxisomal protein. In mouse, the Mpv17 protein is involved in the development of early-onset glomerulosclerosis [2]. More recently a homolog of Mpv17 in S. cerevisiae has been been found to be an integral membrane protein of the inner mitochondrial membrane where it has been proposed to have a role in ethanol metabolism and tolerance during heat-shock [3]. Defects in MPV17 is associated with mitochondrial DNA depletion syndrome (MDDS) and Navajo neurohepatopathy (NNH) [4]. MDDS is a clinically heterogeneous group of disorders characterised by a reduction in mitochondrial DNA (mtDNA) copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and may affect single organs, typically muscle or liver, or multiple tissues. Individuals with the hepatocerebral form of mitochondrial DNA depletion syndrome have early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. NNH is an autosomal recessive disease that is prevalent among Navajo children in the South Western states of America. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NNH have been described. Mitochondrial DNA depletion was detected in the livers of patients, suggesting a primary defect in mtDNA maintenance [5].

Literature references

  1. Brosius U, Dehmel T, Gartner J; , J Biol Chem 2002;277:774-784.: Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes. PUBMED:11590176 EPMC:11590176

  2. Iida R, Yasuda T, Tsubota E, Matsuki T, Kishi K; , Biochem Biophys Res Commun 2001;283:292-296.: Cloning, mapping, genomic organization, and expression of mouse M-LP, a new member of the peroxisomal membrane protein Mpv17 domain family. PUBMED:11327696 EPMC:11327696

  3. Trott A, Morano KA; , Eukaryot Cell 2004;3:620-631.: SYM1 is the stress-induced Saccharomyces cerevisiae ortholog of the mammalian kidney disease gene Mpv17 and is required for ethanol metabolism and tolerance during heat shock. PUBMED:15189984 EPMC:15189984

  4. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M; , Nat Genet. 2006;38:570-575.: MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. PUBMED:16582910 EPMC:16582910

  5. Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M; , Am J Hum Genet. 2006;79:544-548.: Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. PUBMED:16909392 EPMC:16909392


This tab holds annotation information from the InterPro database.

InterPro entry IPR007248

The 22 kDa peroxisomal membrane protein (PMP22) is a major component of peroxisomal membranes. PMP22 seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the organelle membrane. PMP22 is synthesised on free cytosolic ribosomes and then directed to the peroxisome membrane by specific targeting information [PUBMED:11590176]. Mpv17 is a closely related peroxisomal protein involved in the development of early-onset glomerulosclerosis [PUBMED:11327696].

A member of this family found in Saccharomyces cerevisiae (Baker's yeast) is an integral membrane protein of the inner mitochondrial membrane and has been suggested to play a role in mitochondrial function during heat shock [PUBMED:15189984].

Gene Ontology

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Domain organisation

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Alignments

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We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.

  Seed
(573)
Full
(3651)
Representative proteomes UniProt
(5399)
NCBI
(6536)
Meta
(41)
RP15
(957)
RP35
(1983)
RP55
(2876)
RP75
(3664)
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1Cannot generate PP/Heatmap alignments for seeds; no PP data available

Key: ✓ available, x not generated, not available.

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  Seed
(573)
Full
(3651)
Representative proteomes UniProt
(5399)
NCBI
(6536)
Meta
(41)
RP15
(957)
RP35
(1983)
RP55
(2876)
RP75
(3664)
Alignment:
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Sequence:
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We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.

  Seed
(573)
Full
(3651)
Representative proteomes UniProt
(5399)
NCBI
(6536)
Meta
(41)
RP15
(957)
RP35
(1983)
RP55
(2876)
RP75
(3664)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download   Download   Download  
Gzipped Download   Download   Download   Download   Download   Download   Download   Download   Download  

You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

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This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.

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Curation and family details

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Curation View help on the curation process

Seed source: Pfam-B_8493 (release 7.3);
Previous IDs: none
Type: Family
Author: Wood V, Finn RD,
Number in seed: 573
Number in full: 3651
Average length of the domain: 61.10 aa
Average identity of full alignment: 25 %
Average coverage of the sequence by the domain: 23.84 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 26740544 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 20.3 20.3
Trusted cut-off 20.4 20.3
Noise cut-off 20.2 20.2
Model length: 62
Family (HMM) version: 11
Download: download the raw HMM for this family

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