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Protein

Mpv17-like protein 2

Gene

MPV17L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607).1 Publication

GO - Biological processi

  • mitochondrial ribosome assembly Source: UniProtKB
  • positive regulation of mitochondrial translation Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mpv17-like protein 2
Gene namesi
Name:MPV17L2
Synonyms:FKSG24
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:28177. MPV17L2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4223HelicalSequence analysisAdd
BLAST
Transmembranei63 – 8321HelicalSequence analysisAdd
BLAST
Transmembranei102 – 12221HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial large ribosomal subunit Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164723095.

Polymorphism and mutation databases

BioMutaiMPV17L2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 206206Mpv17-like protein 2PRO_0000317621Add
BLAST

Proteomic databases

EPDiQ567V2.
MaxQBiQ567V2.
PaxDbiQ567V2.
PeptideAtlasiQ567V2.
PRIDEiQ567V2.

PTM databases

iPTMnetiQ567V2.
PhosphoSiteiQ567V2.

Expressioni

Gene expression databases

BgeeiENSG00000254858.
ExpressionAtlasiQ567V2. baseline and differential.
GenevisibleiQ567V2. HS.

Organism-specific databases

HPAiHPA043111.

Interactioni

Subunit structurei

Interacts with the large mitochondrial ribosomal subunit.1 Publication

Protein-protein interaction databases

BioGridi124249. 4 interactions.
IntActiQ567V2. 4 interactions.
STRINGi9606.ENSP00000247712.

Structurei

3D structure databases

ProteinModelPortaliQ567V2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1944. Eukaryota.
ENOG4111SYH. LUCA.
GeneTreeiENSGT00530000063005.
HOGENOMiHOG000039675.
InParanoidiQ567V2.
KOiK13348.
OMAiRMFVVGC.
OrthoDBiEOG091G0MNT.
PhylomeDBiQ567V2.
TreeFamiTF324392.

Family and domain databases

InterProiIPR007248. Mpv17_PMP22.
[Graphical view]
PANTHERiPTHR11266. PTHR11266. 1 hit.
PfamiPF04117. Mpv17_PMP22. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q567V2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MARGGWRRLR RLLSAGQLLF QGRALLVTNT LGCGALMAAG DGVRQSWEIR
60 70 80 90 100
ARPGQVFDPR RSASMFAVGC SMGPFLHYWY LSLDRLFPAS GLRGFPNVLK
110 120 130 140 150
KVLVDQLVAS PLLGVWYFLG LGCLEGQTVG ESCQELREKF WEFYKADWCV
160 170 180 190 200
WPAAQFVNFL FVPPQFRVTY INGLTLGWDT YLSYLKYRSP VPLTPPGCVA

LDTRAD
Length:206
Mass (Da):23,180
Last modified:February 5, 2008 - v2
Checksum:i8FB2E03429ED6734
GO
Isoform 2 (identifier: Q567V2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-141: Missing.

Show »
Length:181
Mass (Da):20,305
Checksum:i177AC90520943F0E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti140 – 1401F → S in AAL30173 (Ref. 1) Curated
Sequence conflicti201 – 2011L → P in AAH93008 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721M → V.1 Publication
Corresponds to variant rs874628 [ dbSNP | Ensembl ].
VAR_058299

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei117 – 14125Missing in isoform 2. 2 PublicationsVSP_031102Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF416712 mRNA. Translation: AAL16806.1.
AF320622 mRNA. Translation: AAL30173.1.
BC005064 mRNA. Translation: AAH05064.1.
BC093008 mRNA. Translation: AAH93008.1.
CCDSiCCDS42522.1. [Q567V2-1]
RefSeqiNP_116072.2. NM_032683.2. [Q567V2-1]
UniGeneiHs.515254.

Genome annotation databases

EnsembliENST00000599612; ENSP00000469836; ENSG00000254858. [Q567V2-1]
GeneIDi84769.
KEGGihsa:84769.
UCSCiuc002nid.4. human. [Q567V2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF416712 mRNA. Translation: AAL16806.1.
AF320622 mRNA. Translation: AAL30173.1.
BC005064 mRNA. Translation: AAH05064.1.
BC093008 mRNA. Translation: AAH93008.1.
CCDSiCCDS42522.1. [Q567V2-1]
RefSeqiNP_116072.2. NM_032683.2. [Q567V2-1]
UniGeneiHs.515254.

3D structure databases

ProteinModelPortaliQ567V2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124249. 4 interactions.
IntActiQ567V2. 4 interactions.
STRINGi9606.ENSP00000247712.

PTM databases

iPTMnetiQ567V2.
PhosphoSiteiQ567V2.

Polymorphism and mutation databases

BioMutaiMPV17L2.

Proteomic databases

EPDiQ567V2.
MaxQBiQ567V2.
PaxDbiQ567V2.
PeptideAtlasiQ567V2.
PRIDEiQ567V2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000599612; ENSP00000469836; ENSG00000254858. [Q567V2-1]
GeneIDi84769.
KEGGihsa:84769.
UCSCiuc002nid.4. human. [Q567V2-1]

Organism-specific databases

CTDi84769.
GeneCardsiMPV17L2.
H-InvDBHIX0023289.
HGNCiHGNC:28177. MPV17L2.
HPAiHPA043111.
MIMi616133. gene.
neXtProtiNX_Q567V2.
PharmGKBiPA164723095.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1944. Eukaryota.
ENOG4111SYH. LUCA.
GeneTreeiENSGT00530000063005.
HOGENOMiHOG000039675.
InParanoidiQ567V2.
KOiK13348.
OMAiRMFVVGC.
OrthoDBiEOG091G0MNT.
PhylomeDBiQ567V2.
TreeFamiTF324392.

Miscellaneous databases

GenomeRNAii84769.
PROiQ567V2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000254858.
ExpressionAtlasiQ567V2. baseline and differential.
GenevisibleiQ567V2. HS.

Family and domain databases

InterProiIPR007248. Mpv17_PMP22.
[Graphical view]
PANTHERiPTHR11266. PTHR11266. 1 hit.
PfamiPF04117. Mpv17_PMP22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiM17L2_HUMAN
AccessioniPrimary (citable) accession number: Q567V2
Secondary accession number(s): Q96P34, Q96QA0, Q9BSG4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: September 7, 2016
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.