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MYO7A myosin VIIA [ Homo sapiens (human) ]

Gene ID: 4647, updated on 3-Mar-2019

Summary

Official Symbol
MYO7Aprovided by HGNC
Official Full Name
myosin VIIAprovided by HGNC
Primary source
HGNC:HGNC:7606
See related
Ensembl:ENSG00000137474 MIM:276903
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

Genomic context

See MYO7A in Genome Data Viewer
Location:
11q13.5
Exon count:
55
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
cellular protein localization ISS
Inferred from Sequence or Structural Similarity
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 
mechanoreceptor differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
stereocilium base ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_000260.4NP_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
    Q13402
    Related
    ENSP00000386331.3, ENST00000409709.8
    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_001127180.1NP_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, 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 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

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.
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