P19258 (MPV17_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein Mpv17
Short name=Mpv-17

Gene names

Name:

Mpv17

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	176 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance Probable. Ref.3
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein By similarity Ref.3.
Tissue specificity	High levels in heart, kidney, and brain, intermediate levels in testis, and low levels in liver and spleen.
Disruption phenotype	Mice lack expression of this protein resulting in the development of adult onset nephrotic syndrome and chronic renal failure. They also develop severe morphological degeneration of the inner ear. In the inner ear, mice lacking Mpv17 display degenerative changes of the cochlear structures already at the age of 2 months. The degenerative changes are patchy arranged throughout the entire length of the cochlea and involved the organ of Corti as well as the stria vascularis epithelia with alterations of the basement membrane of the capillaries. Ref.4 Ref.5
Sequence similarities	Belongs to the peroxisomal membrane protein PXMP2/4 family.
Caution	Was initially thought to be a peroxisomal protein (Ref.3). However, it was later shown in human that it is a mitochondrial protein (PubMed:16582907 and PubMed:16582910).

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Deafness
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to reactive oxygen species Inferred from mutant phenotype PubMed 16041630. Source: UniProtKB glomerular basement membrane development Inferred from mutant phenotype PubMed 16041630. Source: UniProtKB homeostatic process Inferred from electronic annotation. Source: Compara inner ear development Inferred from mutant phenotype PubMed 16041630. Source: UniProtKB mitochondrial genome maintenance Inferred from electronic annotation. Source: Compara reactive oxygen species metabolic process Inferred from direct assay Ref.3. Source: MGI regulation of reactive oxygen species metabolic process Inferred from mutant phenotype PubMed 16041630. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay PubMed 18614015. Source: MGI peroxisome Inferred from direct assay Ref.3. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 176	176	Protein Mpv17		PRO_0000218928
Regions
	Transmembrane	18 – 38	21	Helical; Potential
	Transmembrane	53 – 73	21	Helical; Potential
	Transmembrane	94 – 114	21	Helical; Potential
	Transmembrane	131 – 151	21	Helical; Potential

Sequences

	Sequence		Length	Mass (Da)
	P19258 [UniParc]. Last modified November 1, 1990. Version 1. Checksum: 7060A7B122F77DB1	FASTA	176	19,686
	10 20 30 40 50 60 MALWRAYQRA LAAHPWKVQV LTAGSLMGVG DMISQQLVER RGLQQHQAGR TLTMVSLGCG 70 80 90 100 110 120 FVGPVVGGWY KVLDHLIPGT TKVHALKKML LDQGGFAPCF LGCFLPLVGI LNGMSAQDNW 130 140 150 160 170 AKLKRDYPDA LITNYYLWPA VQLANFYLVP LHYRLAVVQC VAIVWNSYLS WKAHQF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome." Weiher H., Noda T., Gray D.A., Sharpe A.H., Jaenisch R. Cell 62:425-434(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: FVB/N. Tissue: Kidney.
[3]	"The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species." Zwacka R.M., Reuter A., Pfaff E., Moll J., Gorgas K., Karasawa M., Weiher H. EMBO J. 13:5129-5134(1994) [PubMed] [Europe PMC] [Abstract] Cited for: PRELIMINARY SUBCELLULAR LOCATION, FUNCTION.
[4]	"Loss of auditory function in transgenic Mpv17-deficient mice." Muller M., Smolders J.W.T., Meyer zum Gottesberge A.M., Reuter A., Zwacka R.M., Weiher H., Klinke R. Hear. Res. 114:259-263(1997) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE.
[5]	"Ultrastructural and physiological defects in the cochlea of the Mpv17 mouse strain. A comparison between young and old adult animals." Meyer zum Gottesberge A.M., Felix H., Reuter A., Weiher H. Hear. Res. 156:69-80(2001) [PubMed] [Europe PMC] [Abstract] Cited for: DISRUPTION PHENOTYPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M36411 mRNA. Translation: AAA39736.1. BC013452 mRNA. Translation: AAH13452.1.
IPI	IPI00114263.
PIR	S29031.
RefSeq	NP_032648.1. NM_008622.5.
UniGene	Mm.435472.
3D structure databases
ModBase	Search...
Proteomic databases
PaxDb	P19258.
PRIDE	P19258.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000114631; ENSMUSP00000110278; ENSMUSG00000090262. ENSMUST00000114632; ENSMUSP00000110279; ENSMUSG00000090262. ENSMUST00000154241; ENSMUSP00000115292; ENSMUSG00000090262.
GeneID	17527.
KEGG	mmu:17527.
UCSC	uc008wxf.2. mouse.
Organism-specific databases
CTD	4358.
MGI	MGI:97138. Mpv17.
Phylogenomic databases
eggNOG	NOG44594.
GeneTree	ENSGT00530000063005.
HOGENOM	HOG000039675.
HOVERGEN	HBG105417.
KO	K13348.
Gene expression databases
ArrayExpress	P19258.
Bgee	P19258.
CleanEx	MM_MPV17.
Genevestigator	P19258.
GermOnline	ENSMUSG00000029144. Mus musculus.
Family and domain databases
InterPro	IPR007248. Mpv17_PMP22. [Graphical view]
PANTHER	PTHR11266. PTHR11266. 1 hit.
Pfam	PF04117. Mpv17_PMP22. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	292140.
SOURCE	Search...

Entry information

Entry name

MPV17_MOUSE

Accession

Primary (citable) accession number: P19258

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1990
Last sequence update:	November 1, 1990
Last modified:	April 3, 2013
This is version 101 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program