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Q9UBC5

- MYO1A_HUMAN

UniProt

Q9UBC5 - MYO1A_HUMAN

Protein

Unconventional myosin-Ia

Gene

MYO1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Involved in directing the movement of organelles along actin filaments.Curated

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi101 – 1088ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. motor activity Source: InterPro

    GO - Biological processi

    1. microvillus assembly Source: Ensembl
    2. sensory perception of sound Source: UniProtKB
    3. vesicle localization Source: UniProtKB

    Keywords - Molecular functioni

    Motor protein, Myosin

    Keywords - Ligandi

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Unconventional myosin-Ia
    Alternative name(s):
    Brush border myosin I
    Short name:
    BBM-I
    Short name:
    BBMI
    Myosin I heavy chain
    Short name:
    MIHC
    Gene namesi
    Name:MYO1A
    Synonyms:MYHL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:7595. MYO1A.

    Subcellular locationi

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. basal plasma membrane Source: Ensembl
    3. basolateral plasma membrane Source: UniProtKB
    4. brush border Source: UniProtKB
    5. cortical actin cytoskeleton Source: UniProtKB
    6. cytoplasm Source: UniProtKB
    7. filamentous actin Source: UniProtKB
    8. lateral plasma membrane Source: UniProtKB
    9. microvillus Source: UniProtKB
    10. myosin complex Source: UniProtKB-KW

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 48 (DFNA48) [MIM:607841]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161S → SS in DFNA48. 1 Publication
    VAR_015945
    Natural varianti306 – 3061V → M in DFNA48; unknown pathological significance. 1 Publication
    Corresponds to variant rs55679042 [ dbSNP | Ensembl ].
    VAR_015946
    Natural varianti385 – 3851E → D in DFNA48. 1 Publication
    VAR_015947
    Natural varianti662 – 6621G → E in DFNA48; unknown pathological significance. 1 Publication
    Corresponds to variant rs33962952 [ dbSNP | Ensembl ].
    VAR_015948
    Natural varianti674 – 6741G → D in DFNA48. 1 Publication
    VAR_015949
    Natural varianti797 – 7971S → F in DFNA48. 1 Publication
    Corresponds to variant rs113470661 [ dbSNP | Ensembl ].
    VAR_015950
    Natural varianti910 – 9101S → P in DFNA48. 1 Publication
    VAR_015951

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi607841. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBiPA31397.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10431043Unconventional myosin-IaPRO_0000123438Add
    BLAST

    Proteomic databases

    MaxQBiQ9UBC5.
    PaxDbiQ9UBC5.
    PRIDEiQ9UBC5.

    PTM databases

    PhosphoSiteiQ9UBC5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UBC5.
    BgeeiQ9UBC5.
    CleanExiHS_MYO1A.
    GenevestigatoriQ9UBC5.

    Organism-specific databases

    HPAiHPA041633.

    Interactioni

    Protein-protein interaction databases

    BioGridi110724. 5 interactions.
    IntActiQ9UBC5. 2 interactions.
    MINTiMINT-1137503.
    STRINGi9606.ENSP00000300119.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBC5.
    SMRiQ9UBC5. Positions 3-721, 735-763.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini8 – 694687Myosin motorAdd
    BLAST
    Domaini697 – 71923IQ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini720 – 74223IQ 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini743 – 77230IQ 3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni571 – 59323Actin-bindingSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 3 IQ domains.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5022.
    HOGENOMiHOG000260264.
    HOVERGENiHBG062373.
    InParanoidiQ9UBC5.
    KOiK10356.
    OMAiKCKRFRD.
    OrthoDBiEOG7V49XQ.
    PhylomeDBiQ9UBC5.
    TreeFamiTF312960.

    Family and domain databases

    InterProiIPR000048. IQ_motif_EF-hand-BS.
    IPR001609. Myosin_head_motor_dom.
    IPR010926. Myosin_tail_2.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00612. IQ. 2 hits.
    PF00063. Myosin_head. 1 hit.
    PF06017. Myosin_TH1. 1 hit.
    [Graphical view]
    PRINTSiPR00193. MYOSINHEAVY.
    SMARTiSM00015. IQ. 3 hits.
    SM00242. MYSc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS50096. IQ. 2 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UBC5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP     50
    YQQLPIYGPE FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT 100
    GESGSGKTEA SKLVMSYVAA VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT 150
    IRNNNSSRFG KYMDIEFDFK GSPLGGVITN YLLEKSRLVK QLKGERNFHI 200
    FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD ASSFRAVQSA 250
    MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR 300
    EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY 350
    SRLFDWIVNR INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC 400
    NEKLQQVFIE MTLKEEQEEY KREGIPWTKV DYFDNGIICK LIEHNQRGIL 450
    AMLDEECLRP GVVSDSTFLA KLNQLFSKHG HYESKVTQNA QRQYDHTMGL 500
    SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH PLLRSLFPEG 550
    NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF 600
    SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN 650
    GGDREGVEKV LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL 700
    ATLIQKIYRG WRCRTHYQLM RKSQILISSW FRGNMQKKCY GKIKASVLLI 750
    QAFVRGWKAR KNYRKYFRSE AALTLADFIY KSMVQKFLLG LKNNLPSTNV 800
    LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ VEILREKLCA 850
    SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK 900
    KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD 950
    GLFSLHLSEM SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT 1000
    EKFSVRFKEN SVAVKVVQGP AGGDNSKLRY KKKGSHCLEV TVQ 1043
    Length:1,043
    Mass (Da):118,401
    Last modified:May 1, 2000 - v1
    Checksum:iEE5D79D9D6E085DC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti446 – 4461Q → P in AAC27437. (PubMed:9858156)Curated
    Sequence conflicti712 – 7121R → G in AAC27437. (PubMed:9858156)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161S → SS in DFNA48. 1 Publication
    VAR_015945
    Natural varianti306 – 3061V → M in DFNA48; unknown pathological significance. 1 Publication
    Corresponds to variant rs55679042 [ dbSNP | Ensembl ].
    VAR_015946
    Natural varianti385 – 3851E → D in DFNA48. 1 Publication
    VAR_015947
    Natural varianti426 – 4261P → L.
    Corresponds to variant rs4759043 [ dbSNP | Ensembl ].
    VAR_050207
    Natural varianti506 – 5061C → S.
    Corresponds to variant rs12297756 [ dbSNP | Ensembl ].
    VAR_050208
    Natural varianti600 – 6001F → L.
    Corresponds to variant rs2270738 [ dbSNP | Ensembl ].
    VAR_020320
    Natural varianti662 – 6621G → E in DFNA48; unknown pathological significance. 1 Publication
    Corresponds to variant rs33962952 [ dbSNP | Ensembl ].
    VAR_015948
    Natural varianti674 – 6741G → D in DFNA48. 1 Publication
    VAR_015949
    Natural varianti797 – 7971S → F in DFNA48. 1 Publication
    Corresponds to variant rs113470661 [ dbSNP | Ensembl ].
    VAR_015950
    Natural varianti910 – 9101S → P in DFNA48. 1 Publication
    VAR_015951
    Natural varianti996 – 9961T → I.
    Corresponds to variant rs17119344 [ dbSNP | Ensembl ].
    VAR_050209

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF127026 mRNA. Translation: AAD31189.1.
    AF105424 mRNA. Translation: AAC78645.1.
    AF009961 mRNA. Translation: AAC27437.1.
    BC059387 mRNA. Translation: AAH59387.1.
    CCDSiCCDS8929.1.
    RefSeqiNP_001242970.1. NM_001256041.1.
    NP_005370.1. NM_005379.3.
    UniGeneiHs.5394.

    Genome annotation databases

    EnsembliENST00000300119; ENSP00000300119; ENSG00000166866.
    ENST00000442789; ENSP00000393392; ENSG00000166866.
    GeneIDi4640.
    KEGGihsa:4640.
    UCSCiuc001smw.5. human.

    Polymorphism databases

    DMDMi13431715.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF127026 mRNA. Translation: AAD31189.1 .
    AF105424 mRNA. Translation: AAC78645.1 .
    AF009961 mRNA. Translation: AAC27437.1 .
    BC059387 mRNA. Translation: AAH59387.1 .
    CCDSi CCDS8929.1.
    RefSeqi NP_001242970.1. NM_001256041.1.
    NP_005370.1. NM_005379.3.
    UniGenei Hs.5394.

    3D structure databases

    ProteinModelPortali Q9UBC5.
    SMRi Q9UBC5. Positions 3-721, 735-763.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110724. 5 interactions.
    IntActi Q9UBC5. 2 interactions.
    MINTi MINT-1137503.
    STRINGi 9606.ENSP00000300119.

    PTM databases

    PhosphoSitei Q9UBC5.

    Polymorphism databases

    DMDMi 13431715.

    Proteomic databases

    MaxQBi Q9UBC5.
    PaxDbi Q9UBC5.
    PRIDEi Q9UBC5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300119 ; ENSP00000300119 ; ENSG00000166866 .
    ENST00000442789 ; ENSP00000393392 ; ENSG00000166866 .
    GeneIDi 4640.
    KEGGi hsa:4640.
    UCSCi uc001smw.5. human.

    Organism-specific databases

    CTDi 4640.
    GeneCardsi GC12M057422.
    GeneReviewsi MYO1A.
    HGNCi HGNC:7595. MYO1A.
    HPAi HPA041633.
    MIMi 601478. gene.
    607841. phenotype.
    neXtProti NX_Q9UBC5.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBi PA31397.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5022.
    HOGENOMi HOG000260264.
    HOVERGENi HBG062373.
    InParanoidi Q9UBC5.
    KOi K10356.
    OMAi KCKRFRD.
    OrthoDBi EOG7V49XQ.
    PhylomeDBi Q9UBC5.
    TreeFami TF312960.

    Miscellaneous databases

    GeneWikii MYO1A.
    GenomeRNAii 4640.
    NextBioi 17876.
    PROi Q9UBC5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBC5.
    Bgeei Q9UBC5.
    CleanExi HS_MYO1A.
    Genevestigatori Q9UBC5.

    Family and domain databases

    InterProi IPR000048. IQ_motif_EF-hand-BS.
    IPR001609. Myosin_head_motor_dom.
    IPR010926. Myosin_tail_2.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00612. IQ. 2 hits.
    PF00063. Myosin_head. 1 hit.
    PF06017. Myosin_TH1. 1 hit.
    [Graphical view ]
    PRINTSi PR00193. MYOSINHEAVY.
    SMARTi SM00015. IQ. 3 hits.
    SM00242. MYSc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS50096. IQ. 2 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human brush border myosin I."
      Bikle D.D., Munson S.J.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Intestine.
    2. "Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes."
      Li W., Wang J., Coluccio L.M., Matsudaira P., Grand R.J.
      J. Histochem. Cytochem. 48:89-94(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Jejunum.
    3. "Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells."
      Skowron J.F., Bement W.M., Mooseker M.S.
      Cell Motil. Cytoskeleton 41:308-324(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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].
      Tissue: Placenta.
    5. "Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss."
      Donaudy F., Ferrara A., Esposito L., Hertzano R., Ben-David O., Bell R.E., Melchionda S., Zelante L., Avraham K.B., Gasparini P.
      Am. J. Hum. Genet. 72:1571-1577(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNA48 SER-116 INS; MET-306; ASP-385; GLU-662; ASP-674; PHE-797 AND PRO-910.

    Entry informationi

    Entry nameiMYO1A_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBC5
    Secondary accession number(s): Q9UQD7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 134 of the entry and version 1 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 12
      Human chromosome 12: 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