P39210 (MPV17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein Mpv17

Gene names

Name:

MPV17

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	176 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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.
Subcellular location	Mitochondrion inner membrane; Multi-pass membrane protein Ref.7 Ref.8.
Tissue specificity	Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Ref.8
Involvement in disease	Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9
Sequence similarities	Belongs to the peroxisomal membrane protein PXMP2/4 family.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Disease	Disease mutation Neuropathy
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular response to reactive oxygen species Inferred from sequence or structural similarity. Source: UniProtKB glomerular basement membrane development Inferred from sequence or structural similarity. Source: UniProtKB homeostatic process Inferred from mutant phenotype Ref.8. Source: UniProtKB inner ear development Inferred from sequence or structural similarity. Source: UniProtKB mitochondrial genome maintenance Inferred from mutant phenotype Ref.8. Source: UniProtKB reactive oxygen species metabolic process Inferred from electronic annotation. Source: Compara regulation of reactive oxygen species metabolic process Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from direct assay Ref.8. Source: UniProtKB peroxisome Non-traceable author statement PubMed 7957077. Source: UniProtKB
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_0000218927
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
Natural variations
	Natural variant	50	1	R → Q in MTDPS6; may cause protein instability and decay. Ref.8 Ref.9		VAR_026217
	Natural variant	50	1	R → W in MTDPS6. Ref.8		VAR_026218
	Natural variant	166	1	N → K in MTDPS6. Ref.8		VAR_026219

Sequences

	Sequence		Length	Mass (Da)
	P39210 [UniParc]. Last modified February 1, 1995. Version 1. Checksum: 5CD9A46F4498C4AB	FASTA	176	19,733
	10 20 30 40 50 60 MALWRAYQRA LAAHPWKVQV LTAGSLMGLG DIISQQLVER RGLQEHQRGR TLTMVSLGCG 70 80 90 100 110 120 FVGPVVGGWY KVLDRFIPGT TKVDALKKML LDQGGFAPCF LGCFLPLVGA LNGLSAQDNW 130 140 150 160 170 AKLQRDYPDA LITNYYLWPA VQLANFYLVP LHYRLAVVQC VAVIWNSYLS WKAHRL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization." Karasawa M., Zwacka R.M., Reuter A., Fink T., Hsieh C.L., Lichter P., Francke U., Weiher H. Hum. Mol. Genet. 2:1829-1834(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. Tissue: Liver.
[2]	"Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue." Weiher H. Adv. Nephrol. Necker Hosp. 22:37-42(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing." Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C. Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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]. Tissue: Skin.
[7]	"Systematic identification of human mitochondrial disease genes through integrative genomics." Calvo S., Jain M., Xie X., Sheth S.A., Chang B., Goldberger O.A., Spinazzola A., Zeviani M., Carr S.A., Mootha V.K. Nat. Genet. 38:576-582(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MTDPS6.
[8]	"MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion." Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Adamo P., Calvo S., Marsano R.M., Donnini C., Weiher H., Strisciuglio P., Parini R., Sarzi E., Chan A., Dimauro S., Rotig A., Gasparini P., Ferrero I., Mootha V.K., Tiranti V., Zeviani M. Nat. Genet. 38:570-575(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MTDPS6 TRP-50; GLN-50 AND LYS-166, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[9]	"Navajo neurohepatopathy is caused by a mutation in the MPV17 gene." Karadimas C.L., Vu T.H., Holve S.A., Chronopoulou P., Quinzii C., Johnsen S.D., Kurth J., Eggers E., Palenzuela L., Tanji K., Bonilla E., De Vivo D.C., DiMauro S., Hirano M. Am. J. Hum. Genet. 79:544-548(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MTDPS6 GLN-50.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	S68430 , S68417, S68418, S68419, S68420, S68421, S68422 Genomic DNA. Translation: AAD14014.1. X76538 mRNA. Translation: CAA54047.1. HQ205986 Genomic DNA. Translation: ADP91854.1. HQ205987 Genomic DNA. Translation: ADP91855.1. HQ205988 Genomic DNA. Translation: ADP91856.1. HQ205989 Genomic DNA. Translation: ADP91857.1. HQ205990 Genomic DNA. Translation: ADP91858.1. HQ205991 Genomic DNA. Translation: ADP91859.1. HQ205992 Genomic DNA. Translation: ADP91860.1. HQ205993 Genomic DNA. Translation: ADP91861.1. HQ205994 Genomic DNA. Translation: ADP91862.1. HQ205995 Genomic DNA. Translation: ADP91863.1. HQ205996 Genomic DNA. Translation: ADP91864.1. HQ205997 Genomic DNA. Translation: ADP91865.1. HQ205998 Genomic DNA. Translation: ADP91866.1. HQ205999 Genomic DNA. Translation: ADP91867.1. HQ206000 Genomic DNA. Translation: ADP91868.1. HQ206001 Genomic DNA. Translation: ADP91869.1. HQ206002 Genomic DNA. Translation: ADP91870.1. HQ206003 Genomic DNA. Translation: ADP91871.1. HQ206004 Genomic DNA. Translation: ADP91872.1. HQ206005 Genomic DNA. Translation: ADP91873.1. HQ206006 Genomic DNA. Translation: ADP91874.1. HQ206007 Genomic DNA. Translation: ADP91875.1. HQ206008 Genomic DNA. Translation: ADP91876.1. HQ206009 Genomic DNA. Translation: ADP91877.1. HQ206010 Genomic DNA. Translation: ADP91878.1. HQ206011 Genomic DNA. Translation: ADP91879.1. HQ206012 Genomic DNA. Translation: ADP91880.1. HQ206013 Genomic DNA. Translation: ADP91881.1. HQ206014 Genomic DNA. Translation: ADP91882.1. HQ206015 Genomic DNA. Translation: ADP91883.1. HQ206016 Genomic DNA. Translation: ADP91884.1. HQ206017 Genomic DNA. Translation: ADP91885.1. HQ206018 Genomic DNA. Translation: ADP91886.1. HQ206019 Genomic DNA. Translation: ADP91887.1. HQ206020 Genomic DNA. Translation: ADP91888.1. HQ206021 Genomic DNA. Translation: ADP91889.1. HQ206022 Genomic DNA. Translation: ADP91890.1. HQ206023 Genomic DNA. Translation: ADP91891.1. HQ206024 Genomic DNA. Translation: ADP91892.1. HQ206025 Genomic DNA. Translation: ADP91893.1. AC013413 Genomic DNA. Translation: AAY24298.1. CH471053 Genomic DNA. Translation: EAX00600.1. CH471053 Genomic DNA. Translation: EAX00602.1. BC001115 mRNA. Translation: AAH01115.1. BC016289 mRNA. Translation: AAH16289.2.
IPI	IPI00023958.
PIR	S45343.
RefSeq	NP_002428.1. NM_002437.4.
UniGene	Hs.75659.
3D structure databases
ProteinModelPortal	P39210.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000233545.
Polymorphism databases
DMDM	730059.
Proteomic databases
PaxDb	P39210.
PeptideAtlas	P39210.
PRIDE	P39210.
Protocols and materials databases
DNASU	4358.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000233545; ENSP00000233545; ENSG00000115204. ENST00000380044; ENSP00000369383; ENSG00000115204.
GeneID	4358.
KEGG	hsa:4358.
UCSC	uc002rjr.3. human.
Organism-specific databases
CTD	4358.
GeneCards	GC02M027532.
HGNC	HGNC:7224. MPV17.
MIM	137960. gene. 256810. phenotype.
neXtProt	NX_P39210.
Orphanet	255229. Navajo neurohepatopathy.
PharmGKB	PA30929.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG312776.
HOGENOM	HOG000039675.
HOVERGEN	HBG105417.
KO	K13348.
OrthoDB	EOG408N94.
PhylomeDB	P39210.
Gene expression databases
ArrayExpress	P39210.
Bgee	P39210.
CleanEx	HS_MPV17.
Genevestigator	P39210.
GermOnline	ENSG00000115204. Homo sapiens.
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
ChiTaRS	MPV17. human.
GenomeRNAi	4358.
NextBio	17151.
SOURCE	Search...

Entry information

Entry name

MPV17_HUMAN

Accession

Primary (citable) accession number: P39210
Secondary accession number(s): D6W555, Q53SY2, Q96B08

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	February 1, 1995
Last modified:	May 1, 2013
This is version 108 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.