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    MYO7A myosin VIIA [ Homo sapiens (human) ]

    Gene ID: 4647, updated on 7-Apr-2024

    Summary

    Official Symbol
    MYO7Aprovided by HGNC
    Official Full Name
    myosin VIIAprovided by HGNC
    Primary source
    HGNC:HGNC:7606
    See related
    Ensembl:ENSG00000137474 MIM:276903; AllianceGenome:HGNC:7606
    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]
    Expression
    Broad expression in adrenal (RPKM 8.3), testis (RPKM 6.5) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11q13.5
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77128246..77215241)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77058823..77147851)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76839292..76926286)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76777177-76777677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76797624-76798572 Neighboring gene calpain 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76824170-76824764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76824765-76825360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76825361-76825954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76837978-76838700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76838701-76839424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76840147-76840870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76842316-76843037 Neighboring gene olfactory marker protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:76851056-76851622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:76893658-76894158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76902287-76902788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:76902789-76903288 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 4 Neighboring gene TOMM20 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microfilament motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament-based movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eye photoreceptor cell development IC
    Inferred by Curator
    more info
    PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within mechanoreceptor differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagolysosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pigment granule transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of myosin VII complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium base ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in upper tip-link density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    unconventional myosin-VIIa
    Names
    myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009086.2 RefSeqGene

      Range
      5001..91996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1420

    mRNA and Protein(s)

    1. NM_000260.4NP_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)
      AP000752, BG108466, U34227, U39226, U55208
      Consensus CDS
      CCDS53683.1
      UniProtKB/Swiss-Prot
      B9A011, F8VUN5, P78427, Q13321, Q13402, Q14785, Q92821, Q92822
      Related
      ENSP00000386331.3, ENST00000409709.9
      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_001127180.2NP_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)
      AP000752, BG108466, U39226, U55208
      Consensus CDS
      CCDS53684.1
      UniProtKB/Swiss-Prot
      Q13402
      Related
      ENSP00000392185.2, ENST00000458637.6
      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
    3. NM_001369365.1NP_001356294.1  unconventional myosin-VIIa isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000752, AP001855, KF511157
      Consensus CDS
      CCDS91543.1
      Related
      ENSP00000386635.2, ENST00000409619.6
      Conserved Domains (11) summary
      smart00015
      Location:755776
      IQ; Calmodulin-binding motif
      smart00139
      Location:17141847
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00295
      Location:18542066
      B41; Band 4.1 homologues
      COG3064
      Location:785955
      TolA; Membrane protein involved in colicin uptake [Cell wall/membrane/envelope biogenesis]
      cd13198
      Location:14571555
      FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
      cd13199
      Location:20622157
      FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
      cd01381
      Location:68718
      MYSc_Myo7; class VII myosin, motor domain
      pfam05672
      Location:846923
      MAP7; MAP7 (E-MAP-115) family
      cd17092
      Location:12461344
      FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cd17093
      Location:18521949
      FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
      cl17036
      Location:15561620
      SH3; Src Homology 3 domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      77128246..77215241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545044.3XP_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_047426970.1XP_047282926.1  unconventional myosin-VIIa isoform X10

    3. XM_047426971.1XP_047282927.1  unconventional myosin-VIIa isoform X13

    4. XM_017017780.2XP_016873269.1  unconventional myosin-VIIa isoform X4

    5. XM_017017788.2XP_016873277.1  unconventional myosin-VIIa isoform X19

    6. XM_017017784.2XP_016873273.1  unconventional myosin-VIIa isoform X9

    7. XM_017017786.2XP_016873275.1  unconventional myosin-VIIa isoform X12

    8. XM_017017778.2XP_016873267.1  unconventional myosin-VIIa isoform X2

    9. XM_017017779.2XP_016873268.1  unconventional myosin-VIIa isoform X3

    10. XM_011545046.3XP_011543348.2  unconventional myosin-VIIa isoform X1

    11. XM_017017781.2XP_016873270.1  unconventional myosin-VIIa isoform X6

    12. XM_017017785.2XP_016873274.1  unconventional myosin-VIIa isoform X11

    13. XM_017017782.2XP_016873271.1  unconventional myosin-VIIa isoform X7

    14. XM_017017783.2XP_016873272.1  unconventional myosin-VIIa isoform X8

    15. XM_047426972.1XP_047282928.1  unconventional myosin-VIIa isoform X15

    16. XM_047426974.1XP_047282930.1  unconventional myosin-VIIa isoform X17

    17. XM_017017787.2XP_016873276.1  unconventional myosin-VIIa isoform X18

    18. XM_047426973.1XP_047282929.1  unconventional myosin-VIIa isoform X16

    19. XM_011545050.3XP_011543352.1  unconventional myosin-VIIa isoform X14

      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_001747888.2 RNA Sequence

    2. XR_001747889.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      77058823..77147851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368856.1XP_054224831.1  unconventional myosin-VIIa isoform X5

    2. XM_054368861.1XP_054224836.1  unconventional myosin-VIIa isoform X10

    3. XM_054368864.1XP_054224839.1  unconventional myosin-VIIa isoform X13

    4. XM_054368869.1XP_054224844.1  unconventional myosin-VIIa isoform X31

    5. XM_054368868.1XP_054224843.1  unconventional myosin-VIIa isoform X30

    6. XM_054368857.1XP_054224832.1  unconventional myosin-VIIa isoform X23

    7. XM_054368853.1XP_054224828.1  unconventional myosin-VIIa isoform X20

    8. XM_054368854.1XP_054224829.1  unconventional myosin-VIIa isoform X21

    9. XM_054368852.1XP_054224827.1  unconventional myosin-VIIa isoform X16

    10. XM_054368862.1XP_054224837.1  unconventional myosin-VIIa isoform X27

    11. XM_054368866.1XP_054224841.1  unconventional myosin-VIIa isoform X29

    12. XM_054368858.1XP_054224833.1  unconventional myosin-VIIa isoform X24

    13. XM_054368859.1XP_054224834.1  unconventional myosin-VIIa isoform X25

    14. XM_054368863.1XP_054224838.1  unconventional myosin-VIIa isoform X28

    15. XM_054368855.1XP_054224830.1  unconventional myosin-VIIa isoform X22

    16. XM_054368860.1XP_054224835.1  unconventional myosin-VIIa isoform X26

    17. XM_054368870.1XP_054224845.1  unconventional myosin-VIIa isoform X32

    18. XM_054368867.1XP_054224842.1  unconventional myosin-VIIa isoform X16

    19. XM_054368865.1XP_054224840.1  unconventional myosin-VIIa isoform X14

    RNA

    1. XR_008488401.1 RNA Sequence

    2. XR_008488400.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001127179.2: Suppressed sequence

      Description
      NM_001127179.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.