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    MYO7A myosin VIIA [ Homo sapiens (human) ]

    Gene ID: 4647, updated on 8-May-2017
    Official Symbol
    MYO7Aprovided by HGNC
    Official Full Name
    myosin VIIAprovided by HGNC
    Primary source
    HGNC:HGNC:7606
    See related
    Ensembl:ENSG00000137474 MIM:276903; Vega:OTTHUMG00000152822
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA
    Summary
    This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q13.5
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (77128192..77215241)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76839302..76926286)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369400 Neighboring gene calpain 5 Neighboring gene olfactory marker protein Neighboring gene glycerophosphodiester phosphodiesterase domain containing 4 Neighboring gene TOMM20 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
      The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin-dependent ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament-based movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    eye photoreceptor cell development IC
    Inferred by Curator
    more info
    PubMed 
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagolysosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    pigment granule transport IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    myosin VII complex IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    upper tip-link density IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    unconventional myosin-VIIa
    Names
    myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009086.1 RefSeqGene

      Range
      5001..91977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000260.3NP_000251.3  unconventional myosin-VIIa isoform 1

      See identical proteins and their annotated locations for NP_000251.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BG108466, U34227, U39226, U55208
      Consensus CDS
      CCDS53683.1
      UniProtKB/Swiss-Prot
      Q13402
      Related
      ENSP00000386331.3, OTTHUMP00000202523, ENST00000409709.7, OTTHUMT00000328133
      Conserved Domains (14) summary
      smart00015
      Location:766787
      IQ; Calmodulin-binding motif
      smart00139
      Location:17631896
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:60741
      MYSc; Myosin. Large ATPases
      smart00295
      Location:19032115
      B41; Band 4.1 homologues
      cd13198
      Location:14681604
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:21112206
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd14473
      Location:13631463
      FERM_B-lobe; FERM domain B-lobe
      cd01381
      Location:79729
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:20132115
      FERM_M; FERM central domain
      pfam05672
      Location:866935
      MAP7; MAP7 (E-MAP-115) family
      pfam09379
      Location:12621301
      FERM_N; FERM N-terminal domain
      pfam15743
      Location:808946
      SPATA1_C; Spermatogenesis-associated C-terminus
      cl17036
      Location:16051669
      SH3; Src Homology 3 domain superfamily
      cl19107
      Location:866934
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. NM_001127179.2NP_001120651.2  unconventional myosin-VIIa isoform 3

      See identical proteins and their annotated locations for NP_001120651.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP000752, BC023212, U39226, U55209
      Consensus CDS
      CCDS53685.1
      UniProtKB/Swiss-Prot
      Q13402
      UniProtKB/TrEMBL
      B9A012
      Related
      ENSP00000386689.1, OTTHUMP00000202525, ENST00000409893.5, OTTHUMT00000328137
      Conserved Domains (5) summary
      smart00015
      Location:766787
      IQ; Calmodulin-binding motif
      smart00242
      Location:60741
      MYSc; Myosin. Large ATPases
      cd01381
      Location:79729
      MYSc_Myo7; class VII myosin, motor domain
      cl02480
      Location:10171056
      MyTH4; MyTH4 domain
      cl19107
      Location:866934
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    3. NM_001127180.1NP_001120652.1  unconventional myosin-VIIa isoform 2

      See identical proteins and their annotated locations for NP_001120652.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      BG108466, U39226, U55208
      Consensus CDS
      CCDS53684.1
      UniProtKB/Swiss-Prot
      Q13402
      Related
      ENSP00000392185.2, OTTHUMP00000202524, ENST00000458637.6, OTTHUMT00000328134
      Conserved Domains (13) summary
      smart00015
      Location:766787
      IQ; Calmodulin-binding motif
      smart00139
      Location:17251858
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:60741
      MYSc; Myosin. Large ATPases
      smart00295
      Location:18652077
      B41; Band 4.1 homologues
      cd13198
      Location:14681566
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:20732166
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd14473
      Location:13631463
      FERM_B-lobe; FERM domain B-lobe
      cd01381
      Location:79729
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:19752077
      FERM_M; FERM central domain
      pfam05672
      Location:866935
      MAP7; MAP7 (E-MAP-115) family
      pfam09379
      Location:12621301
      FERM_N; FERM N-terminal domain
      cl17036
      Location:15671631
      SH3; Src Homology 3 domain superfamily
      cl19107
      Location:866934
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      77128192..77215241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545044.2XP_011543346.1  unconventional myosin-VIIa isoform X5

      Conserved Domains (13) summary
      smart00015
      Location:766787
      IQ; Calmodulin-binding motif
      smart00139
      Location:17631896
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:60741
      MYSc; Myosin. Large ATPases
      smart00295
      Location:19032115
      B41; Band 4.1 homologues
      cd13198
      Location:14681604
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd14473
      Location:13631463
      FERM_B-lobe; FERM domain B-lobe
      cd01381
      Location:79729
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:20132115
      FERM_M; FERM central domain
      pfam05672
      Location:866935
      MAP7; MAP7 (E-MAP-115) family
      pfam09379
      Location:12621301
      FERM_N; FERM N-terminal domain
      pfam15743
      Location:808946
      SPATA1_C; Spermatogenesis-associated C-terminus
      cl17036
      Location:16051669
      SH3; Src Homology 3 domain superfamily
      cl19107
      Location:866934
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    2. XM_017017780.1XP_016873269.1  unconventional myosin-VIIa isoform X4

    3. XM_017017788.1XP_016873277.1  unconventional myosin-VIIa isoform X14

    4. XM_017017784.1XP_016873273.1  unconventional myosin-VIIa isoform X9

    5. XM_017017786.1XP_016873275.1  unconventional myosin-VIIa isoform X11

    6. XM_017017779.1XP_016873268.1  unconventional myosin-VIIa isoform X3

    7. XM_011545046.2XP_011543348.2  unconventional myosin-VIIa isoform X1

    8. XM_017017781.1XP_016873270.1  unconventional myosin-VIIa isoform X6

    9. XM_017017778.1XP_016873267.1  unconventional myosin-VIIa isoform X2

    10. XM_017017782.1XP_016873271.1  unconventional myosin-VIIa isoform X7

    11. XM_017017783.1XP_016873272.1  unconventional myosin-VIIa isoform X8

    12. XM_017017785.1XP_016873274.1  unconventional myosin-VIIa isoform X10

    13. XM_017017787.1XP_016873276.1  unconventional myosin-VIIa isoform X13

    14. XM_011545050.2XP_011543352.1  unconventional myosin-VIIa isoform X12

      Conserved Domains (12) summary
      smart00015
      Location:680701
      IQ; Calmodulin-binding motif
      smart00139
      Location:16751808
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:10655
      MYSc; Myosin. Large ATPases
      smart00295
      Location:18152027
      B41; Band 4.1 homologues
      cd13198
      Location:14181516
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd14473
      Location:13131413
      FERM_B-lobe; FERM domain B-lobe
      cd01381
      Location:10643
      MYSc_Myo7; class VII myosin, motor domain
      pfam00373
      Location:19252027
      FERM_M; FERM central domain
      pfam05672
      Location:780849
      MAP7; MAP7 (E-MAP-115) family
      pfam09379
      Location:11761215
      FERM_N; FERM N-terminal domain
      cl17036
      Location:15171581
      SH3; Src Homology 3 domain superfamily
      cl19107
      Location:780848
      SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

    RNA

    1. XR_001747885.1 RNA Sequence

    2. XR_001747887.1 RNA Sequence

    3. XR_001747886.1 RNA Sequence

    4. XR_001747888.1 RNA Sequence

    5. XR_001747889.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      76722561..76809502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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