• Gene id: 4642

Gene Summary

• Gene Symbol: MYO1D   Gene   UCSC   Ensembl
• Aliases: PPP1R108, myr4
• Gene name: myosin ID
• Alternate names: unconventional myosin-Id, myosin-I gamma, protein phosphatase 1, regulatory subunit 108,
• Gene location: 17q11.2 (32877171: 32492521)     Exons: 27     NC_000017.11
• OMIM: 613113

Protein Summary

• Protein general information: O94832  
  • Name: Unconventional myosin Id
  • Length: 1006  
  • Mass: 116202
  • Tissue specificity: Expressed in many tissues. Highest levels in brain, followed by lung and ovary; expression is lowest in spleen.
• Sequence:

  MAEQESLEFGKADFVLMDTVSMPEFMANLRLRFEKGRIYTFIGEVVVSVNPYKLLNIYGRDTIEQYKGRELYERP
  PHLFAIADAAYKAMKRRSKDTCIVISGESGAGKTEASKYIMQYIAAITNPSQRAEVERVKNMLLKSNCVLEAFGN
  AKTNRNDNSSRFGKYMDINFDFKGDPIGGHINNYLLEKSRVIVQQPGERSFHSFYQLLQGGSEQMLRSLHLQKSL
  SSYNYIHVGAQLKSSINDAAEFRVVADAMKVIGFKPEEIQTVYKILAAILHLGNLKFVVDGDTPLIENGKVVSII
  AELLSTKTDMVEKALLYRTVATGRDIIDKQHTEQEASYGRDAFAKAIYERLFCWIVTRINDIIEVKNYDTTIHGK
  NTVIGVLDIYGFEIFDNNSFEQFCINYCNEKLQQLFIQLVLKQEQEEYQREGIPWKHIDYFNNQIIVDLVEQQHK
  GIIAILDDACMNVGKVTDEMFLEALNSKLGKHAHFSSRKLCASDKILEFDRDFRIRHYAGDVVYSVIGFIDKNKD
  TLFQDFKRLMYNSSNPVLKNMWPEGKLSITEVTKRPLTAATLFKNSMIALVDNLASKEPYYVRCIKPNDKKSPQI
  FDDERCRHQVEYLGLLENVRVRRAGFAFRQTYEKFLHRYKMISEFTWPNHDLPSDKEAVKKLIERCGFQDDVAYG
  KTKIFIRTPRTLFTLEELRAQMLIRIVLFLQKVWRGTLARMRYKRTKAALTIIRYYRRYKVKSYIHEVARRFHGV
  KTMRDYGKHVKWPSPPKVLRRFEEALQTIFNRWRASQLIKSIPASDLPQVRAKVAAVEMLKGQRADLGLQRAWEG
  NYLASKPDTPQTSGTFVPVANELKRKDKYMNVLFSCHVRKVNRFSKVEDRAIFVTDRHLYKMDPTKQYKVMKTIP
  LYNLTGLSVSNGKDQLVVFHTKDNKDLIVCLFSKQPTHESRIGELVGVLVNHFKSEKRHLQVNVTNPVQCSLHGK
  KCTVSVETRLNQPQPDFTKNRSGFILSVPGN

• Structural information:
  • Protein Domains: (9..69-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (699..71-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (721..74-)
    (/note="IQ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (-)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR010926  IPR036072   IPR027417  
  • Prosite: PS50096 PS51456 PS51757
  • CDD: cd01378
  • STRING: ENSP00000324527
• Other Databases: GeneCards:  MYO1D  Malacards:  MYO1D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030050	vesicle transport along actin filament	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0005902	microvillus	IBA	cellular component
GO:0000146	microfilament motor activity	IBA	molecular function
GO:0051015	actin filament binding	IBA	molecular function
GO:0030898	actin-dependent ATPase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0031982	vesicle	IBA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0000146	microfilament motor activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030673	axolemma	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0097440	apical dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043209	myelin sheath	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0030898	actin-dependent ATPase activity	IEA	molecular function
GO:0030900	forebrain development	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0044853	plasma membrane raft	IEA	cellular component
GO:0048306	calcium-dependent protein binding	IEA	molecular function
GO:0005903	brush border	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0051641	cellular localization	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0043209	myelin sheath	ISS	cellular component
GO:0030673	axolemma	ISS	cellular component
GO:0000146	microfilament motor activity	ISS	molecular function
GO:0061502	early endosome to recycling endosome transport	ISS	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005903	brush border	ISS	cellular component
GO:0051641	cellular localization	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005790	smooth endoplasmic reticulum	ISS	cellular component
GO:0005516	calmodulin binding	ISS	molecular function
GO:0043209	myelin sheath	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0051015	actin filament binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0097440	apical dendrite	ISS	cellular component
GO:0048306	calcium-dependent protein binding	ISS	molecular function
GO:0030898	actin-dependent ATPase activity	ISS	molecular function
GO:0016459	myosin complex	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005903	brush border	ISS	cellular component
GO:0043209	myelin sheath	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22906644
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
22906644	Hypospadias	Methylation site (cg18200150)		20 (12 patients with isolated hypospadias and 8 healthy controls)	Male infertility	Microarray