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UniProtKB - Q9BUK6 (MSTO1_HUMAN)
Protein
Protein misato homolog 1
Gene
MSTO1
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the regulation of mitochondrial distribution and morphology (PubMed:17349998, PubMed:28554942, PubMed:28544275).
Required for mitochondrial fusion and mitochondrial network formation (PubMed:28554942, PubMed:28544275).
3 PublicationsGO - Biological processi
- mitochondrion distribution Source: UniProtKB
- mitochondrion organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BUK6 |
SignaLinki | Q9BUK6 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein misato homolog 1 |
Gene namesi | Name:MSTO1 ORF Names:LST005, SLTP005 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29678, MSTO1 |
MIMi | 617619, gene |
neXtProti | NX_Q9BUK6 |
VEuPathDBi | HostDB:ENSG00000125459 |
Subcellular locationi
Mitochondrion
- Mitochondrion outer membrane 2 Publications
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial outer membrane Source: UniProtKB
Other locations
- cytoplasm Source: LIFEdb
Keywords - Cellular componenti
Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Involvement in diseasei
Myopathy, mitochondrial, and ataxia (MMYAT)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder characterized by muscle weakness and atrophy, ataxia, poor growth, delayed motor development, dysdiadochokinesia, dysmetria and additional neurologic features. Some patients show skeletal and endocrine anomalies, as well as behavioral psychiatric manifestations. MMYAT transmission pattern is consistent with autosomal dominant inheritance in some families, and autosomal recessive inheritance in others.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079889 | 8 | V → M in MMYAT; autosomal dominant; patient cells show decreased mitochondrial fusion and mitochondrial network formation; patient cells show increased mitochondria aggregation and fragmentation. 1 PublicationCorresponds to variant dbSNP:rs762798018EnsemblClinVar. | 1 | |
Natural variantiVAR_035046 | 324 | T → I in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs622288EnsemblClinVar. | 1 | |
Natural variantiVAR_079890 | 345 | R → C in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749922789EnsemblClinVar. | 1 | |
Natural variantiVAR_079891 | 376 | F → L in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553295536EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 55154 |
MalaCardsi | MSTO1 |
MIMi | 617675, phenotype |
Orphaneti | 502423, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
PharmGKBi | PA142671313 |
Miscellaneous databases
Pharosi | Q9BUK6, Tbio |
Genetic variation databases
BioMutai | MSTO1 |
DMDMi | 74752357 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000304626 | 1 – 570 | Protein misato homolog 1Add BLAST | 570 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 495 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9BUK6 |
jPOSTi | Q9BUK6 |
MassIVEi | Q9BUK6 |
MaxQBi | Q9BUK6 |
PaxDbi | Q9BUK6 |
PeptideAtlasi | Q9BUK6 |
PRIDEi | Q9BUK6 |
ProteomicsDBi | 79098 [Q9BUK6-1] 79099 [Q9BUK6-2] 79100 [Q9BUK6-3] 79101 [Q9BUK6-4] 79102 [Q9BUK6-5] 79103 [Q9BUK6-6] 79104 [Q9BUK6-7] |
PTM databases
GlyGeni | Q9BUK6, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9BUK6 |
PhosphoSitePlusi | Q9BUK6 |
Expressioni
Tissue specificityi
Present in all cell lines tested (at protein level). Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000125459, Expressed in left testis and 113 other tissues |
ExpressionAtlasi | Q9BUK6, baseline and differential |
Genevisiblei | Q9BUK6, HS |
Organism-specific databases
HPAi | ENSG00000125459, Low tissue specificity |
Interactioni
Binary interactionsi
Q9BUK6
With | #Exp. | IntAct |
---|---|---|
HDDC3 - isoform 2 [Q8N4P3-2] | 3 | EBI-2340176,EBI-12037393 |
Protein-protein interaction databases
BioGRIDi | 120457, 54 interactors |
IntActi | Q9BUK6, 25 interactors |
MINTi | Q9BUK6 |
STRINGi | 9606.ENSP00000245564 |
Miscellaneous databases
RNActi | Q9BUK6, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9BUK6 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Belongs to the misato family.Curated
Phylogenomic databases
eggNOGi | KOG2530, Eukaryota |
GeneTreei | ENSGT00530000064067 |
HOGENOMi | CLU_184878_0_0_1 |
InParanoidi | Q9BUK6 |
OMAi | EILTFQF |
OrthoDBi | 1321917at2759 |
PhylomeDBi | Q9BUK6 |
TreeFami | TF323669 |
Family and domain databases
Gene3Di | 3.40.50.1440, 1 hit |
InterProi | View protein in InterPro IPR029209, DML1/Misato_tubulin IPR019605, Misato_II_tubulin-like IPR036525, Tubulin/FtsZ_GTPase_sf |
Pfami | View protein in Pfam PF10644, Misat_Tub_SegII, 1 hit PF14881, Tubulin_3, 1 hit |
SUPFAMi | SSF52490, SSF52490, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BUK6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAGGAREVLT LQLGHFAGFV GAHWWNQQDA ALGRATDSKE PPGELCPDVL
60 70 80 90 100
YRTGRTLHGQ ETYTPRLILM DLKGSLSSLK EEGGLYRDKQ LDAAIAWQGK
110 120 130 140 150
LTTHKEELYP KNPYLQDFLS AEGVLSSDGV WRVKSIPNGK GSSPLPTATT
160 170 180 190 200
PKPLIPTEAS IRVWSDFLRV HLHPRSICMI QKYNHDGEAG RLEAFGQGES
210 220 230 240 250
VLKEPKYQEE LEDRLHFYVE ECDYLQGFQI LCDLHDGFSG VGAKAAELLQ
260 270 280 290 300
DEYSGRGIIT WGLLPGPYHR GEAQRNIYRL LNTAFGLVHL TAHSSLVCPL
310 320 330 340 350
SLGGSLGLRP EPPVSFPYLH YDATLPFHCS AILATALDTV TVPYRLCSSP
360 370 380 390 400
VSMVHLADML SFCGKKVVTA GAIIPFPLAP GQSLPDSLMQ FGGATPWTPL
410 420 430 440 450
SACGEPSGTR CFAQSVVLRG IDRACHTSQL TPGTPPPSAL HACTTGEEIL
460 470 480 490 500
AQYLQQQQPG VMSSSHLLLT PCRVAPPYPH LFSSCSPPGM VLDGSPKGAA
510 520 530 540 550
VESIPVFGAL CSSSSLHQTL EALARDLTKL DLRRWASFMD AGVEHDDVAE
560 570
LLQELQSLAQ CYQGGDSLVD
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IUD2 | A0A3B3IUD2_HUMAN | Protein misato homolog 1 | MSTO1 | 557 | Annotation score: | ||
V9GYF2 | V9GYF2_HUMAN | Protein misato homolog 1 | MSTO1 | 78 | Annotation score: |
Sequence cautioni
The sequence AAM12424 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 389 | M → V in BAA91651 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 482 | F → S in AK092950 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 563 | Q → P in CAI59784 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079889 | 8 | V → M in MMYAT; autosomal dominant; patient cells show decreased mitochondrial fusion and mitochondrial network formation; patient cells show increased mitochondria aggregation and fragmentation. 1 PublicationCorresponds to variant dbSNP:rs762798018EnsemblClinVar. | 1 | |
Natural variantiVAR_035046 | 324 | T → I in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs622288EnsemblClinVar. | 1 | |
Natural variantiVAR_079890 | 345 | R → C in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs749922789EnsemblClinVar. | 1 | |
Natural variantiVAR_079891 | 376 | F → L in MMYAT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553295536EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028049 | 1 – 388 | Missing in isoform 6. 1 PublicationAdd BLAST | 388 | |
Alternative sequenceiVSP_028050 | 1 – 178 | Missing in isoform 5. 1 PublicationAdd BLAST | 178 | |
Alternative sequenceiVSP_028051 | 98 – 99 | QG → EC in isoform 4. 1 Publication | 2 | |
Alternative sequenceiVSP_028052 | 100 – 570 | Missing in isoform 4. 1 PublicationAdd BLAST | 471 | |
Alternative sequenceiVSP_028053 | 105 – 139 | Missing in isoform 7. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_028054 | 489 – 500 | Missing in isoform 3. 1 PublicationAdd BLAST | 12 | |
Alternative sequenceiVSP_028055 | 489 – 499 | Missing in isoform 7. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_028056 | 499 | Missing in isoform 2 and isoform 5. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF111708 mRNA Translation: AAM12424.1 Frameshift. AY334564 mRNA Translation: AAP94730.1 AK001366 mRNA Translation: BAA91651.1 AK092950 mRNA No translation available. AK222863 mRNA Translation: BAD96583.1 BX537684 mRNA Translation: CAD97810.1 CR749791 mRNA Translation: CAH18652.1 CR936872 Transcribed RNA Translation: CAI59784.1 AL353807 Genomic DNA No translation available. BC002535 mRNA Translation: AAH02535.1 AF272833 mRNA Translation: AAF81794.1 |
CCDSi | CCDS1114.1 [Q9BUK6-1] |
RefSeqi | NP_001243461.1, NM_001256532.1 [Q9BUK6-2] NP_001243462.1, NM_001256533.1 [Q9BUK6-3] NP_060586.2, NM_018116.3 [Q9BUK6-1] XP_011508010.1, XM_011509708.1 [Q9BUK6-5] XP_016857098.1, XM_017001609.1 |
Genome annotation databases
Ensembli | ENST00000245564.8; ENSP00000245564.3; ENSG00000125459.17 ENST00000368341.8; ENSP00000357325.4; ENSG00000125459.17 [Q9BUK6-7] ENST00000490743.5; ENSP00000476353.1; ENSG00000125459.17 [Q9BUK6-4] |
GeneIDi | 55154 |
KEGGi | hsa:55154 |
MANE-Selecti | ENST00000245564.8; ENSP00000245564.3; NM_018116.4; NP_060586.2 |
UCSCi | uc001fky.5, human [Q9BUK6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF111708 mRNA Translation: AAM12424.1 Frameshift. AY334564 mRNA Translation: AAP94730.1 AK001366 mRNA Translation: BAA91651.1 AK092950 mRNA No translation available. AK222863 mRNA Translation: BAD96583.1 BX537684 mRNA Translation: CAD97810.1 CR749791 mRNA Translation: CAH18652.1 CR936872 Transcribed RNA Translation: CAI59784.1 AL353807 Genomic DNA No translation available. BC002535 mRNA Translation: AAH02535.1 AF272833 mRNA Translation: AAF81794.1 |
CCDSi | CCDS1114.1 [Q9BUK6-1] |
RefSeqi | NP_001243461.1, NM_001256532.1 [Q9BUK6-2] NP_001243462.1, NM_001256533.1 [Q9BUK6-3] NP_060586.2, NM_018116.3 [Q9BUK6-1] XP_011508010.1, XM_011509708.1 [Q9BUK6-5] XP_016857098.1, XM_017001609.1 |
3D structure databases
AlphaFoldDBi | Q9BUK6 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120457, 54 interactors |
IntActi | Q9BUK6, 25 interactors |
MINTi | Q9BUK6 |
STRINGi | 9606.ENSP00000245564 |
PTM databases
GlyGeni | Q9BUK6, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9BUK6 |
PhosphoSitePlusi | Q9BUK6 |
Genetic variation databases
BioMutai | MSTO1 |
DMDMi | 74752357 |
Proteomic databases
EPDi | Q9BUK6 |
jPOSTi | Q9BUK6 |
MassIVEi | Q9BUK6 |
MaxQBi | Q9BUK6 |
PaxDbi | Q9BUK6 |
PeptideAtlasi | Q9BUK6 |
PRIDEi | Q9BUK6 |
ProteomicsDBi | 79098 [Q9BUK6-1] 79099 [Q9BUK6-2] 79100 [Q9BUK6-3] 79101 [Q9BUK6-4] 79102 [Q9BUK6-5] 79103 [Q9BUK6-6] 79104 [Q9BUK6-7] |
Protocols and materials databases
Antibodypediai | 35210, 108 antibodies from 23 providers |
DNASUi | 55154 |
Genome annotation databases
Ensembli | ENST00000245564.8; ENSP00000245564.3; ENSG00000125459.17 ENST00000368341.8; ENSP00000357325.4; ENSG00000125459.17 [Q9BUK6-7] ENST00000490743.5; ENSP00000476353.1; ENSG00000125459.17 [Q9BUK6-4] |
GeneIDi | 55154 |
KEGGi | hsa:55154 |
MANE-Selecti | ENST00000245564.8; ENSP00000245564.3; NM_018116.4; NP_060586.2 |
UCSCi | uc001fky.5, human [Q9BUK6-1] |
Organism-specific databases
CTDi | 55154 |
DisGeNETi | 55154 |
GeneCardsi | MSTO1 |
HGNCi | HGNC:29678, MSTO1 |
HPAi | ENSG00000125459, Low tissue specificity |
MalaCardsi | MSTO1 |
MIMi | 617619, gene 617675, phenotype |
neXtProti | NX_Q9BUK6 |
Orphaneti | 502423, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
PharmGKBi | PA142671313 |
VEuPathDBi | HostDB:ENSG00000125459 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2530, Eukaryota |
GeneTreei | ENSGT00530000064067 |
HOGENOMi | CLU_184878_0_0_1 |
InParanoidi | Q9BUK6 |
OMAi | EILTFQF |
OrthoDBi | 1321917at2759 |
PhylomeDBi | Q9BUK6 |
TreeFami | TF323669 |
Enzyme and pathway databases
PathwayCommonsi | Q9BUK6 |
SignaLinki | Q9BUK6 |
Miscellaneous databases
BioGRID-ORCSi | 55154, 454 hits in 1074 CRISPR screens |
ChiTaRSi | MSTO1, human |
GeneWikii | MSTO1 |
GenomeRNAii | 55154 |
Pharosi | Q9BUK6, Tbio |
PROi | PR:Q9BUK6 |
RNActi | Q9BUK6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125459, Expressed in left testis and 113 other tissues |
ExpressionAtlasi | Q9BUK6, baseline and differential |
Genevisiblei | Q9BUK6, HS |
Family and domain databases
Gene3Di | 3.40.50.1440, 1 hit |
InterProi | View protein in InterPro IPR029209, DML1/Misato_tubulin IPR019605, Misato_II_tubulin-like IPR036525, Tubulin/FtsZ_GTPase_sf |
Pfami | View protein in Pfam PF10644, Misat_Tub_SegII, 1 hit PF14881, Tubulin_3, 1 hit |
SUPFAMi | SSF52490, SSF52490, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MSTO1_HUMAN | |
Accessioni | Q9BUK6Primary (citable) accession number: Q9BUK6 Secondary accession number(s): Q53GR8 Q9NVU4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 163 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families