Please note: this site relies heavily on the use of javascript. Without a javascript-enabled browser, this site will not function correctly. Please enable javascript and reload the page, or switch to a different browser.
0  structures 1390  species 0  interactions 7719  sequences 151  architectures

Family: Mpv17_PMP22 (PF04117)

Summary: Mpv17 / PMP22 family

Pfam includes annotations and additional family information from a range of different sources. These sources can be accessed via the tabs below.

The Pfam group coordinates the annotation of Pfam families in Wikipedia, but we have not yet assigned a Wikipedia article to this family. If you think that a particular Wikipedia article provides good annotation, please let us know.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

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 22kDa 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

The mapping between Pfam and Gene Ontology is provided by InterPro. If you use this data please cite InterPro.

Domain organisation

Below is a listing of the unique domain organisations or architectures in which this domain is found. More...

Loading domain graphics...

Alignments

We store a range of different sequence alignments for families. As well as the seed alignment from which the family is built, we provide the full alignment, generated by searching the sequence database (reference proteomes) using the family HMM. We also generate alignments using four representative proteomes (RP) sets and the UniProtKB sequence database. More...

View options

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
(505)
Full
(7719)
Representative proteomes UniProt
(16720)
RP15
(1532)
RP35
(3648)
RP55
(5944)
RP75
(8258)
Jalview View  View  View  View  View  View  View 
HTML View             
PP/heatmap 1            

1Cannot generate PP/Heatmap alignments for seeds; no PP data available

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

Format an alignment

  Seed
(505)
Full
(7719)
Representative proteomes UniProt
(16720)
RP15
(1532)
RP35
(3648)
RP55
(5944)
RP75
(8258)
Alignment:
Format:
Order:
Sequence:
Gaps:
Download/view:

Download options

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
(505)
Full
(7719)
Representative proteomes UniProt
(16720)
RP15
(1532)
RP35
(3648)
RP55
(5944)
RP75
(8258)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download  
Gzipped 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.

HMM logo

HMM logos is one way of visualising profile HMMs. Logos provide a quick overview of the properties of an HMM in a graphical form. You can see a more detailed description of HMM logos and find out how you can interpret them here. More...

Trees

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.

Note: You can also download the data file for the tree.

Curation and family details

This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.

Curation View help on the curation process

Seed source: Pfam-B_8493 (release 7.3);
Previous IDs: none
Type: Family
Sequence Ontology: SO:0100021
Author: Wood V , Finn RD
Number in seed: 505
Number in full: 7719
Average length of the domain: 60.70 aa
Average identity of full alignment: 26 %
Average coverage of the sequence by the domain: 24.24 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 57096847 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 21.7 21.7
Trusted cut-off 21.7 21.7
Noise cut-off 21.6 21.6
Model length: 62
Family (HMM) version: 14
Download: download the raw HMM for this family

Species distribution

Sunburst controls

Hide

Weight segments by...


Change the size of the sunburst

Small
Large

Colour assignments

Archea Archea Eukaryota Eukaryota
Bacteria Bacteria Other sequences Other sequences
Viruses Viruses Unclassified Unclassified
Viroids Viroids Unclassified sequence Unclassified sequence

Selections

Align selected sequences to HMM

Generate a FASTA-format file

Clear selection

This visualisation provides a simple graphical representation of the distribution of this family across species. You can find the original interactive tree in the adjacent tab. More...

Loading sunburst data...

Tree controls

Hide

The tree shows the occurrence of this domain across different species. More...

Loading...

Please note: for large trees this can take some time. While the tree is loading, you can safely switch away from this tab but if you browse away from the family page entirely, the tree will not be loaded.

AlphaFold Structure Predictions

The list of proteins below match this family and have AlphaFold predicted structures. Click on the protein accession to view the predicted structure.

Protein Predicted structure External Information
A0A0P0XYD9 View 3D Structure Click here
A0A0R0EMD7 View 3D Structure Click here
A0A0R0K098 View 3D Structure Click here
A0A0R0L0C3 View 3D Structure Click here
A0A0R4IUD3 View 3D Structure Click here
A0A0R4J517 View 3D Structure Click here
A0A0S0WGR0 View 3D Structure Click here
A0A1D6H6N7 View 3D Structure Click here
A0A1D6MXX6 View 3D Structure Click here
A0A1D8PU01 View 3D Structure Click here
A0JQ86 View 3D Structure Click here
A8JNT1 View 3D Structure Click here
B4FIN2 View 3D Structure Click here
B4FYT6 View 3D Structure Click here
B6SRR1 View 3D Structure Click here
B6SUV8 View 3D Structure Click here
B6U032 View 3D Structure Click here
B9GBN8 View 3D Structure Click here
C4IYE0 View 3D Structure Click here
C6SY13 View 3D Structure Click here
D4A908 View 3D Structure Click here
D4A9N8 View 3D Structure Click here
E7F2C3 View 3D Structure Click here
E9AHM7 View 3D Structure Click here
F4JI90 View 3D Structure Click here
F4K2L8 View 3D Structure Click here
I1KEZ0 View 3D Structure Click here
I1KZU3 View 3D Structure Click here
I1LC83 View 3D Structure Click here
I1LEF9 View 3D Structure Click here
I1LUX5 View 3D Structure Click here
I1LWB2 View 3D Structure Click here
I1M3C6 View 3D Structure Click here
I1NG15 View 3D Structure Click here
I1NI68 View 3D Structure Click here
K7L4T6 View 3D Structure Click here
K7L909 View 3D Structure Click here
K7LB49 View 3D Structure Click here
K7LUA4 View 3D Structure Click here
K7M2R0 View 3D Structure Click here
K7MHL5 View 3D Structure Click here
O14142 View 3D Structure Click here
O82324 View 3D Structure Click here
P19258 View 3D Structure Click here
P39210 View 3D Structure Click here
P42925 View 3D Structure Click here
Q06563 View 3D Structure Click here
Q07066 View 3D Structure Click here
Q08743 View 3D Structure Click here
Q10244 View 3D Structure Click here
Q23508 View 3D Structure Click here
Q2QL34 View 3D Structure Click here
Q2QQ39 View 3D Structure Click here
Q4CZ26 View 3D Structure Click here
Q4DKI4 View 3D Structure Click here
Q54FR4 View 3D Structure Click here
Q54GD8 View 3D Structure Click here
Q54XX9 View 3D Structure Click here
Q54ZX5 View 3D Structure Click here
Q567V2 View 3D Structure Click here
Q59Q42 View 3D Structure Click here
Q59Q43 View 3D Structure Click here
Q5A4P8 View 3D Structure Click here
Q5A7L7 View 3D Structure Click here
Q5BK62 View 3D Structure Click here
Q5JNF1 View 3D Structure Click here
Q5TZ51 View 3D Structure Click here
Q66HU7 View 3D Structure Click here
Q6DGV7 View 3D Structure Click here
Q6H6J7 View 3D Structure Click here
Q6Z1N7 View 3D Structure Click here
Q75IB3 View 3D Structure Click here
Q7YWV6 View 3D Structure Click here
Q8I478 View 3D Structure Click here
Q8IRC8 View 3D Structure Click here
Q8VIK2 View 3D Structure Click here
Q8W0A7 View 3D Structure Click here
Q99MS3 View 3D Structure Click here
Q9C933 View 3D Structure Click here
Q9FPH4 View 3D Structure Click here
Q9LV46 View 3D Structure Click here
Q9NR77 View 3D Structure Click here
Q9SJH9 View 3D Structure Click here
Q9V492 View 3D Structure Click here
Q9VN75 View 3D Structure Click here
Q9VTQ1 View 3D Structure Click here
Q9VYD6 View 3D Structure Click here
Q9VZM6 View 3D Structure Click here
Q9W587 View 3D Structure Click here
Q9W588 View 3D Structure Click here
Q9ZS51 View 3D Structure Click here

trRosetta Structure

The structural model below was generated by the Baker group with the trRosetta software using the Pfam UniProt multiple sequence alignment.

The InterPro website shows the contact map for the Pfam SEED alignment. Hovering or clicking on a contact position will highlight its connection to other residues in the alignment, as well as on the 3D structure.

Improved protein structure prediction using predicted inter-residue orientations. Jianyi Yang, Ivan Anishchenko, Hahnbeom Park, Zhenling Peng, Sergey Ovchinnikov, David Baker Proceedings of the National Academy of Sciences Jan 2020, 117 (3) 1496-1503; DOI: 10.1073/pnas.1914677117;