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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 GATOR2 complex, inhibits GATOR1 complex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway.

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...

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

PharmGKBiPA164722300.

Polymorphism and mutation databases

BioMutaiMIOS.
DMDMi182662411.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 875875WD repeat-containing protein mioPRO_0000329404Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei766 – 7661PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NXC5.
MaxQBiQ9NXC5.
PaxDbiQ9NXC5.
PRIDEiQ9NXC5.

PTM databases

iPTMnetiQ9NXC5.
PhosphoSiteiQ9NXC5.

Expressioni

Gene expression databases

BgeeiQ9NXC5.
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.1 Publication

Protein-protein interaction databases

BioGridi119974. 22 interactions.
IntActiQ9NXC5. 4 interactions.
MINTiMINT-3065507.
STRINGi9606.ENSP00000339881.

Structurei

3D structure databases

ProteinModelPortaliQ9NXC5.
SMRiQ9NXC5. Positions 121-150.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati58 – 10043WD 1Add
BLAST
Repeati111 – 15545WD 2Add
BLAST
Repeati182 – 22140WD 3Add
BLAST
Repeati223 – 26139WD 4Add
BLAST
Repeati265 – 30642WD 5Add
BLAST
Repeati395 – 43743WD 6Add
BLAST

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.
OMAiMSGSKPD.
OrthoDBiEOG7SR4KR.
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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei551 – 56717DLNLN…GYTDE → RRSESQCGSNGFIGLYG in isoform 2. 1 PublicationVSP_032979Add
BLAST
Alternative sequencei568 – 875308Missing in isoform 2. 1 PublicationVSP_032980Add
BLAST

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_005249780.2. [Q9NXC5-1]
XP_005249838.1. XM_005249781.2. [Q9NXC5-1]
XP_005249839.1. XM_005249782.2. [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_005249780.2. [Q9NXC5-1]
XP_005249838.1. XM_005249781.2. [Q9NXC5-1]
XP_005249839.1. XM_005249782.2. [Q9NXC5-1]
UniGeneiHs.520215.

3D structure databases

ProteinModelPortaliQ9NXC5.
SMRiQ9NXC5. Positions 121-150.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119974. 22 interactions.
IntActiQ9NXC5. 4 interactions.
MINTiMINT-3065507.
STRINGi9606.ENSP00000339881.

PTM databases

iPTMnetiQ9NXC5.
PhosphoSiteiQ9NXC5.

Polymorphism and mutation databases

BioMutaiMIOS.
DMDMi182662411.

Proteomic databases

EPDiQ9NXC5.
MaxQBiQ9NXC5.
PaxDbiQ9NXC5.
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.
PharmGKBiPA164722300.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1008. Eukaryota.
ENOG410YY2R. LUCA.
GeneTreeiENSGT00390000015038.
HOGENOMiHOG000047176.
HOVERGENiHBG108136.
InParanoidiQ9NXC5.
OMAiMSGSKPD.
OrthoDBiEOG7SR4KR.
PhylomeDBiQ9NXC5.
TreeFamiTF324074.

Miscellaneous databases

GenomeRNAii54468.
PROiQ9NXC5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NXC5.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Hepatoma.
  2. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 1).
    Tissue: Brain and Lung.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 464-875 (ISOFORM 1).
    Tissue: Testis.
  6. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-766, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1."
    Bar-Peled L., Chantranupong L., Cherniack A.D., Chen W.W., Ottina K.A., Grabiner B.C., Spear E.D., Carter S.L., Meyerson M., Sabatini D.M.
    Science 340:1100-1106(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN GATOR COMPLEX, SUBUNIT.

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: June 8, 2016
This is version 117 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.