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Protein

WD repeat-containing protein mio

Gene

MIOS

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

Functioni

As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and GATSL3 (PubMed:25457612, PubMed:27487210).3 Publications

GO - Biological processi

  • cellular protein complex localization Source: UniProtKB
  • cellular response to amino acid starvation Source: UniProtKB
  • positive regulation of TOR signaling Source: SGD
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164654-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein mio
Gene namesi
Name:MIOS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21905. MIOS.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: HPA
  • cytoplasm Source: HPA
  • GATOR2 complex Source: SGD
  • lysosomal membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000164654.
PharmGKBiPA164722300.

Polymorphism and mutation databases

BioMutaiMIOS.
DMDMi182662411.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003294041 – 875WD repeat-containing protein mioAdd BLAST875

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei759PhosphoserineCombined sources1
Modified residuei766PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXC5.
MaxQBiQ9NXC5.
PaxDbiQ9NXC5.
PeptideAtlasiQ9NXC5.
PRIDEiQ9NXC5.

PTM databases

iPTMnetiQ9NXC5.
PhosphoSitePlusiQ9NXC5.

Expressioni

Gene expression databases

BgeeiENSG00000164654.
ExpressionAtlasiQ9NXC5. baseline and differential.
GenevisibleiQ9NXC5. HS.

Organism-specific databases

HPAiHPA042928.
HPA052223.

Interactioni

Subunit structurei

Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. The GATOR2 complex interacts with GATSL2 and GATSL3; the interaction is negatively regulated by arginine (PubMed:26972053). The GATOR2 complex interacts with the sestrins SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed:25263562, PubMed:25457612, PubMed:26586190).5 Publications

Protein-protein interaction databases

BioGridi119974. 23 interactors.
DIPiDIP-53801N.
IntActiQ9NXC5. 7 interactors.
MINTiMINT-3065507.
STRINGi9606.ENSP00000339881.

Structurei

3D structure databases

ProteinModelPortaliQ9NXC5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati58 – 100WD 1Add BLAST43
Repeati111 – 155WD 2Add BLAST45
Repeati182 – 221WD 3Add BLAST40
Repeati223 – 261WD 4Add BLAST39
Repeati265 – 306WD 5Add BLAST42
Repeati395 – 437WD 6Add BLAST43

Sequence similaritiesi

Belongs to the WD repeat mio family.Curated
Contains 6 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1008. Eukaryota.
ENOG410YY2R. LUCA.
GeneTreeiENSGT00390000015038.
HOGENOMiHOG000047176.
HOVERGENiHBG108136.
InParanoidiQ9NXC5.
KOiK20407.
OMAiHTECPVS.
OrthoDBiEOG091G0197.
PhylomeDBiQ9NXC5.
TreeFamiTF324074.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR031488. Zn_ribbon_mio.
[Graphical view]
PfamiPF17034. zinc_ribbon_16. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NXC5-1) [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
MSGTKPDILW APHHVDRFVV CDSELSLYHV ESTVNSELKA GSLRLSEDSA
60 70 80 90 100
ATLLSINSDT PYMKCVAWYL NYDPECLLAV GQANGRVVLT SLGQDHNSKF
110 120 130 140 150
KDLIGKEFVP KHARQCNTLA WNPLDSNWLA AGLDKHRADF SVLIWDICSK
160 170 180 190 200
YTPDIVPMEK VKLSAGETET TLLVTKPLYE LGQNDACLSL CWLPRDQKLL
210 220 230 240 250
LAGMHRNLAI FDLRNTSQKM FVNTKAVQGV TVDPYFHDRV ASFYEGQVAI
260 270 280 290 300
WDLRKFEKPV LTLTEQPKPL TKVAWCPTRT GLLATLTRDS NIIRLYDMQH
310 320 330 340 350
TPTPIGDETE PTIIERSVQP CDNYIASFAW HPTSQNRMIV VTPNRTMSDF
360 370 380 390 400
TVFERISLAW SPITSLMWAC GRHLYECTEE ENDNSLEKDI ATKMRLRALS
410 420 430 440 450
RYGLDTEQVW RNHILAGNED PQLKSLWYTL HFMKQYTEDM DQKSPGNKGS
460 470 480 490 500
LVYAGIKSIV KSSLGMVESS RHNWSGLDKQ SDIQNLNEER ILALQLCGWI
510 520 530 540 550
KKGTDVDVGP FLNSLVQEGE WERAAAVALF NLDIRRAIQI LNEGASSEKG
560 570 580 590 600
DLNLNVVAMA LSGYTDEKNS LWREMCSTLR LQLNNPYLCV MFAFLTSETG
610 620 630 640 650
SYDGVLYENK VAVRDRVAFA CKFLSDTQLN RYIEKLTNEM KEAGNLEGIL
660 670 680 690 700
LTGLTKDGVD LMESYVDRTG DVQTASYCML QGSPLDVLKD ERVQYWIENY
710 720 730 740 750
RNLLDAWRFW HKRAEFDIHR SKLDPSSKPL AQVFVSCNFC GKSISYSCSA
760 770 780 790 800
VPHQGRGFSQ YGVSGSPTKS KVTSCPGCRK PLPRCALCLI NMGTPVSSCP
810 820 830 840 850
GGTKSDEKVD LSKDKKLAQF NNWFTWCHNC RHGGHAGHML SWFRDHAECP
860 870
VSACTCKCMQ LDTTGNLVPA ETVQP
Length:875
Mass (Da):98,584
Last modified:April 8, 2008 - v2
Checksum:i481D3AA0C9A3A1CB
GO
Isoform 2 (identifier: Q9NXC5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     551-567: DLNLNVVAMALSGYTDE → RRSESQCGSNGFIGLYG
     568-875: Missing.

Show »
Length:567
Mass (Da):64,016
Checksum:i033FD6DDF52B8B90
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032979551 – 567DLNLN…GYTDE → RRSESQCGSNGFIGLYG in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_032980568 – 875Missing in isoform 2. 1 PublicationAdd BLAST308

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000330 mRNA. Translation: BAA91090.1.
AC004982 Genomic DNA. Translation: AAC31788.1. Sequence problems.
CH471073 Genomic DNA. Translation: EAW93598.1.
CH471073 Genomic DNA. Translation: EAW93601.1.
BC005883 mRNA. Translation: AAH05883.2.
BC140833 mRNA. Translation: AAI40834.1.
BC140834 mRNA. Translation: AAI40835.1.
AL136892 mRNA. Translation: CAB66826.2.
CCDSiCCDS43554.1. [Q9NXC5-1]
RefSeqiNP_061878.3. NM_019005.3. [Q9NXC5-1]
XP_005249837.1. XM_005249780.3. [Q9NXC5-1]
XP_005249838.1. XM_005249781.3. [Q9NXC5-1]
XP_005249839.1. XM_005249782.3. [Q9NXC5-1]
XP_016867850.1. XM_017012361.1. [Q9NXC5-1]
UniGeneiHs.520215.

Genome annotation databases

EnsembliENST00000340080; ENSP00000339881; ENSG00000164654. [Q9NXC5-1]
ENST00000405785; ENSP00000384088; ENSG00000164654. [Q9NXC5-1]
GeneIDi54468.
KEGGihsa:54468.
UCSCiuc003srf.4. human. [Q9NXC5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000330 mRNA. Translation: BAA91090.1.
AC004982 Genomic DNA. Translation: AAC31788.1. Sequence problems.
CH471073 Genomic DNA. Translation: EAW93598.1.
CH471073 Genomic DNA. Translation: EAW93601.1.
BC005883 mRNA. Translation: AAH05883.2.
BC140833 mRNA. Translation: AAI40834.1.
BC140834 mRNA. Translation: AAI40835.1.
AL136892 mRNA. Translation: CAB66826.2.
CCDSiCCDS43554.1. [Q9NXC5-1]
RefSeqiNP_061878.3. NM_019005.3. [Q9NXC5-1]
XP_005249837.1. XM_005249780.3. [Q9NXC5-1]
XP_005249838.1. XM_005249781.3. [Q9NXC5-1]
XP_005249839.1. XM_005249782.3. [Q9NXC5-1]
XP_016867850.1. XM_017012361.1. [Q9NXC5-1]
UniGeneiHs.520215.

3D structure databases

ProteinModelPortaliQ9NXC5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119974. 23 interactors.
DIPiDIP-53801N.
IntActiQ9NXC5. 7 interactors.
MINTiMINT-3065507.
STRINGi9606.ENSP00000339881.

PTM databases

iPTMnetiQ9NXC5.
PhosphoSitePlusiQ9NXC5.

Polymorphism and mutation databases

BioMutaiMIOS.
DMDMi182662411.

Proteomic databases

EPDiQ9NXC5.
MaxQBiQ9NXC5.
PaxDbiQ9NXC5.
PeptideAtlasiQ9NXC5.
PRIDEiQ9NXC5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340080; ENSP00000339881; ENSG00000164654. [Q9NXC5-1]
ENST00000405785; ENSP00000384088; ENSG00000164654. [Q9NXC5-1]
GeneIDi54468.
KEGGihsa:54468.
UCSCiuc003srf.4. human. [Q9NXC5-1]

Organism-specific databases

CTDi54468.
GeneCardsiMIOS.
H-InvDBHIX0006477.
HGNCiHGNC:21905. MIOS.
HPAiHPA042928.
HPA052223.
MIMi615359. gene.
neXtProtiNX_Q9NXC5.
OpenTargetsiENSG00000164654.
PharmGKBiPA164722300.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1008. Eukaryota.
ENOG410YY2R. LUCA.
GeneTreeiENSGT00390000015038.
HOGENOMiHOG000047176.
HOVERGENiHBG108136.
InParanoidiQ9NXC5.
KOiK20407.
OMAiHTECPVS.
OrthoDBiEOG091G0197.
PhylomeDBiQ9NXC5.
TreeFamiTF324074.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164654-MONOMER.

Miscellaneous databases

GenomeRNAii54468.
PROiQ9NXC5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164654.
ExpressionAtlasiQ9NXC5. baseline and differential.
GenevisibleiQ9NXC5. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR031488. Zn_ribbon_mio.
[Graphical view]
PfamiPF17034. zinc_ribbon_16. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMIO_HUMAN
AccessioniPrimary (citable) accession number: Q9NXC5
Secondary accession number(s): B2RTV6
, O75216, Q7L551, Q9H092
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: November 30, 2016
This is version 122 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.