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Q12965

- MYO1E_HUMAN

UniProt

Q12965 - MYO1E_HUMAN

Protein

Unconventional myosin-Ie

Gene

MYO1E

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14.3 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi112 – 1198ATPSequence Analysis

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. ATPase activity, coupled Source: UniProtKB
    3. ATP binding Source: UniProtKB-KW
    4. calmodulin binding Source: UniProtKB
    5. microfilament motor activity Source: UniProtKB
    6. motor activity Source: ProtInc
    7. phosphatidylinositol binding Source: UniProtKB
    8. protein binding Source: IntAct

    GO - Biological processi

    1. actin filament-based movement Source: UniProtKB
    2. ATP catabolic process Source: GOC
    3. endocytosis Source: UniProtKB
    4. glomerular basement membrane development Source: UniProtKB
    5. glomerular filtration Source: UniProtKB
    6. glomerular visceral epithelial cell development Source: UniProtKB
    7. in utero embryonic development Source: Ensembl
    8. platelet-derived growth factor receptor signaling pathway Source: Ensembl
    9. post-embryonic hemopoiesis Source: Ensembl
    10. vasculogenesis Source: Ensembl

    Keywords - Molecular functioni

    Motor protein, Myosin

    Keywords - Ligandi

    Actin-binding, ATP-binding, Calmodulin-binding, Lipid-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Unconventional myosin-Ie
    Alternative name(s):
    Myosin-Ic
    Unconventional myosin 1E
    Gene namesi
    Name:MYO1E
    Synonyms:MYO1C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:7599. MYO1E.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicleclathrin-coated vesicle. Cell junction By similarity
    Note: Colocalizes with F-actin By similarity. In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips. Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles. Colocalizes with dynamin at cytoplasmic vesicles.By similarity

    GO - Cellular componenti

    1. actin cytoskeleton Source: ProtInc
    2. adherens junction Source: UniProtKB
    3. cell-cell junction Source: UniProtKB
    4. clathrin-coated vesicle Source: UniProtKB-SubCell
    5. cytoplasm Source: UniProtKB
    6. cytoskeleton Source: UniProtKB
    7. extracellular vesicular exosome Source: UniProt
    8. myosin complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 Publications
    VAR_065958

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614131. phenotype.
    Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    PharmGKBiPA31401.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11081108Unconventional myosin-IePRO_0000123450Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei980 – 9801Phosphoserine2 Publications
    Modified residuei1002 – 10021Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ12965.
    PaxDbiQ12965.
    PRIDEiQ12965.

    PTM databases

    PhosphoSiteiQ12965.

    Expressioni

    Tissue specificityi

    Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes.2 Publications

    Gene expression databases

    ArrayExpressiQ12965.
    BgeeiQ12965.
    CleanExiHS_MYO1C.
    HS_MYO1E.
    GenevestigatoriQ12965.

    Organism-specific databases

    HPAiHPA023886.

    Interactioni

    Subunit structurei

    Interacts with CALM and F-actin By similarity. Interacts (via SH3 domain) with SYNJ1, DNM1 and DNM2. Interacts with ARL14EP.By similarity3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARL14EPQ8N8R72EBI-4279548,EBI-2807994
    Dnm1P215752EBI-4279548,EBI-80070From a different organism.
    DNM2P505702EBI-4279548,EBI-346547
    Synj1Q629102EBI-4279548,EBI-1149123From a different organism.

    Protein-protein interaction databases

    BioGridi110727. 27 interactions.
    DIPiDIP-884N.
    IntActiQ12965. 7 interactions.
    MINTiMINT-3026848.
    STRINGi9606.ENSP00000288235.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12965.
    SMRiQ12965. Positions 1054-1108.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini19 – 692674Myosin motorAdd
    BLAST
    Domaini695 – 72430IQPROSITE-ProRule annotationAdd
    BLAST
    Domaini1051 – 110858SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni581 – 59111Actin-bindingSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 IQ domain.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH3 domain

    Phylogenomic databases

    eggNOGiCOG5022.
    HOGENOMiHOG000260265.
    HOVERGENiHBG100702.
    InParanoidiQ12965.
    KOiK10356.
    OMAiKLKKENW.
    OrthoDBiEOG7V49XQ.
    PhylomeDBiQ12965.
    TreeFamiTF312960.

    Family and domain databases

    InterProiIPR000048. IQ_motif_EF-hand-BS.
    IPR001609. Myosin_head_motor_dom.
    IPR010926. Myosin_tail_2.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    [Graphical view]
    PfamiPF00063. Myosin_head. 1 hit.
    PF06017. Myosin_TH1. 1 hit.
    PF00018. SH3_1. 1 hit.
    [Graphical view]
    PRINTSiPR00193. MYOSINHEAVY.
    PR00452. SH3DOMAIN.
    SMARTiSM00242. MYSc. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEiPS50096. IQ. 1 hit.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q12965-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGSKGVYQYH WQSHNVKHSG VDDMVLLSKI TENSIVENLK KRYMDDYIFT     50
    YIGSVLISVN PFKQMPYFGE KEIEMYQGAA QYENPPHIYA LADNMYRNMI 100
    IDRENQCVII SGESGAGKTV AAKYIMSYIS RVSGGGTKVQ HVKDIILQSN 150
    PLLEAFGNAK TVRNNNSSRF GKYFEIQFSP GGEPDGGKIS NFLLEKSRVV 200
    MRNPGERSFH IFYQLIEGAS AEQKHSLGIT SMDYYYYLSL SGSYKVDDID 250
    DRREFQETLH AMNVIGIFAE EQTLVLQIVA GILHLGNISF KEVGNYAAVE 300
    SEEFLAFPAY LLGINQDRLK EKLTSRQMDS KWGGKSESIH VTLNVEQACY 350
    TRDALAKALH ARVFDFLVDS INKAMEKDHE EYNIGVLDIY GFEIFQKNGF 400
    EQFCINFVNE KLQQIFIELT LKAEQEEYVQ EGIRWTPIEY FNNKIVCDLI 450
    ENKVNPPGIM SILDDVCATM HAVGEGADQT LLQKLQMQIG SHEHFNSWNQ 500
    GFIIHHYAGK VSYDMDGFCE RNRDVLFMDL IELMQSSELP FIKSLFPENL 550
    QADKKGRPTT AGSKIKKQAN DLVSTLMKCT PHYIRCIKPN ETKKPRDWEE 600
    SRVKHQVEYL GLKENIRVRR AGYAYRRIFQ KFLQRYAILT KATWPSWQGE 650
    EKQGVLHLLQ SVNMDSDQFQ LGRSKVFIKA PESLFLLEEM RERKYDGYAR 700
    VIQKSWRKFV ARKKYVQMRE EASDLLLNKK ERRRNSINRN FIGDYIGMEE 750
    HPELQQFVGK REKIDFADTV TKYDRRFKGV KRDLLLTPKC LYLIGREKVK 800
    QGPDKGLVKE VLKRKIEIER ILSVSLSTMQ DDIFILHEQE YDSLLESVFK 850
    TEFLSLLAKR YEEKTQKQLP LKFSNTLELK LKKENWGPWS AGGSRQVQFH 900
    QGFGDLAVLK PSNKVLQVSI GPGLPKNSRP TRRNTTQNTG YSSGTQNANY 950
    PVRAAPPPPG YHQNGVIRNQ YVPYPHAPGS QRSNQKSLYT SMARPPLPRQ 1000
    QSTSSDRVSQ TPESLDFLKV PDQGAAGVRR QTTSRPPPAG GRPKPQPKPK 1050
    PQVPQCKALY AYDAQDTDEL SFNANDIIDI IKEDPSGWWT GRLRGKQGLF 1100
    PNNYVTKI 1108
    Length:1,108
    Mass (Da):127,062
    Last modified:November 25, 2008 - v2
    Checksum:i3073050B9BB4DDC6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti889 – 8924WSAG → GVQGA in AAA62667. (PubMed:7932763)Curated
    Sequence conflicti984 – 9841N → I in AAA62667. (PubMed:7932763)Curated
    Sequence conflicti1097 – 10971Q → P in AAA62667. (PubMed:7932763)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti159 – 1591A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 Publications
    VAR_065958
    Natural varianti185 – 1851D → G.1 Publication
    Corresponds to variant rs141565214 [ dbSNP | Ensembl ].
    VAR_065959
    Natural varianti221 – 2211A → V.1 Publication
    VAR_065960
    Natural varianti795 – 7951G → R.1 Publication
    Corresponds to variant rs180951130 [ dbSNP | Ensembl ].
    VAR_065961
    Natural varianti1049 – 10491P → H.1 Publication
    Corresponds to variant rs147579391 [ dbSNP | Ensembl ].
    VAR_065962

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14391 mRNA. Translation: AAA62667.1.
    AC092756 Genomic DNA. No translation available.
    L29139 mRNA. Translation: AAA20902.1.
    CCDSiCCDS32254.1.
    PIRiS53601.
    RefSeqiNP_004989.2. NM_004998.3.
    UniGeneiHs.654506.

    Genome annotation databases

    EnsembliENST00000288235; ENSP00000288235; ENSG00000157483.
    GeneIDi4643.
    KEGGihsa:4643.
    UCSCiuc002aga.4. human.

    Polymorphism databases

    DMDMi215274106.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14391 mRNA. Translation: AAA62667.1 .
    AC092756 Genomic DNA. No translation available.
    L29139 mRNA. Translation: AAA20902.1 .
    CCDSi CCDS32254.1.
    PIRi S53601.
    RefSeqi NP_004989.2. NM_004998.3.
    UniGenei Hs.654506.

    3D structure databases

    ProteinModelPortali Q12965.
    SMRi Q12965. Positions 1054-1108.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110727. 27 interactions.
    DIPi DIP-884N.
    IntActi Q12965. 7 interactions.
    MINTi MINT-3026848.
    STRINGi 9606.ENSP00000288235.

    PTM databases

    PhosphoSitei Q12965.

    Polymorphism databases

    DMDMi 215274106.

    Proteomic databases

    MaxQBi Q12965.
    PaxDbi Q12965.
    PRIDEi Q12965.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000288235 ; ENSP00000288235 ; ENSG00000157483 .
    GeneIDi 4643.
    KEGGi hsa:4643.
    UCSCi uc002aga.4. human.

    Organism-specific databases

    CTDi 4643.
    GeneCardsi GC15M059428.
    H-InvDB HIX0038144.
    HGNCi HGNC:7599. MYO1E.
    HPAi HPA023886.
    MIMi 601479. gene.
    614131. phenotype.
    neXtProti NX_Q12965.
    Orphaneti 93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
    PharmGKBi PA31401.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5022.
    HOGENOMi HOG000260265.
    HOVERGENi HBG100702.
    InParanoidi Q12965.
    KOi K10356.
    OMAi KLKKENW.
    OrthoDBi EOG7V49XQ.
    PhylomeDBi Q12965.
    TreeFami TF312960.

    Miscellaneous databases

    ChiTaRSi MYO1E. human.
    GeneWikii MYO1E.
    GenomeRNAii 4643.
    NextBioi 17892.
    PROi Q12965.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12965.
    Bgeei Q12965.
    CleanExi HS_MYO1C.
    HS_MYO1E.
    Genevestigatori Q12965.

    Family and domain databases

    InterProi IPR000048. IQ_motif_EF-hand-BS.
    IPR001609. Myosin_head_motor_dom.
    IPR010926. Myosin_tail_2.
    IPR027417. P-loop_NTPase.
    IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF00063. Myosin_head. 1 hit.
    PF06017. Myosin_TH1. 1 hit.
    PF00018. SH3_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00193. MYOSINHEAVY.
    PR00452. SH3DOMAIN.
    SMARTi SM00242. MYSc. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEi PS50096. IQ. 1 hit.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain."
      Bement W.M., Wirth J.A., Mooseker M.S.
      J. Mol. Biol. 243:356-363(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."
      Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S.
      Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 107-196.
    4. Cited for: FUNCTION IN ATP HYDROLYSIS, INTERACTION WITH F-ACTIN AND CALM.
    5. "Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis."
      Krendel M., Osterweil E.K., Mooseker M.S.
      FEBS Lett. 581:644-650(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SYNJ1; DNM1 AND DNM2.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-980 AND SER-1002, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Myo1e binds anionic phospholipids with high affinity."
      Feeser E.A., Ignacio C.M., Krendel M., Ostap E.M.
      Biochemistry 49:9353-9360(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    8. "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-980, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation."
      Paul P., van den Hoorn T., Jongsma M.L., Bakker M.J., Hengeveld R., Janssen L., Cresswell P., Egan D.A., van Ham M., Ten Brinke A., Ovaa H., Beijersbergen R.L., Kuijl C., Neefjes J.
      Cell 145:268-283(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ARL14EP, TISSUE SPECIFICITY.
    11. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT FSGS6 PRO-159, VARIANTS GLY-185; VAL-221; ARG-795 AND HIS-1049, CHARACTERIZATION OF VARIANT FSGS6 PRO-159.
    12. Cited for: VARIANT FSGS6 PRO-159.

    Entry informationi

    Entry nameiMYO1E_HUMAN
    AccessioniPrimary (citable) accession number: Q12965
    Secondary accession number(s): Q14778
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 138 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

    Caution

    Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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

    External Data

    Dasty 3