• Gene id: 4645

Gene Summary

• Gene Symbol: MYO5B   Gene   UCSC   Ensembl
• Gene name: myosin VB
• Alternate names: unconventional myosin-Vb, MYO5B variant protein, myosin-Vb,
• Gene location: 18q21.1 (50195146: 49822788)     Exons: 40     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
• OMIM: 606540

Protein Summary

• Protein general information: Q9ULV0  
  • Name: Unconventional myosin Vb
  • Length: 1848  
  • Mass: 213672
• Sequence:

  MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLT
  ALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQM
  ARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAKTTRNDNSSRFGKYIQ
  IGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVD
  DAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHW
  LCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHINKALHTSLKQHSFIGVLDIYGFETFEVNSF
  EQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWA
  QKLYDRHSSSQHFQKPRMSNTAFIIVHFADKVEYLSDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVP
  ATTPGKGSSSKISVRSARPPMKVSNKEHKKTVGHQFRTSLHLLMETLNATTPHYVRCIKPNDEKLPFHFDPKRAV
  QQLRACGVLETIRISAAGYPSRWAYHDFFNRYRVLVKKRELANTDKKAICRSVLENLIKDPDKFQFGRTKIFFRA
  GQVAYLEKLRADKFRTATIMIQKTVRGWLQKVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRM
  QRARQAYQRVRRAAVVIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKAR
  RELKALRIEARSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVERLKKELVHYQQSPGE
  DTSLRLQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADLEQENALLKDEKEQLNNQILCQSKDEFAQNS
  VKENLMKKELEEERSRYQNLVKEYSQLEQRYDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSEIGDTE
  DALQQVEEIGLEKAAMDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLDPNADLAYNSL
  KRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEEVLILRTQIVSADQRR
  LAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDWGYLNEDGELGLAYQGLKQVARLLEAQLQAQ
  SLEHEEEVEHLKAQLEALKEEMDKQQQTFCQTLLLSPEAQVEFGVQQEISRLTNENLDLKELVEKLEKNERKLKK
  QLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDLKPQMLSGTVPCL
  PAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTA
  KQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDN
  SYCLEAIIRQMNAFHTVMCDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRG
  RNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQ
  LQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV

• Structural information:
  • Protein Domains: (8..6-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (69..76-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (769..79-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR002710  IPR000048  IPR036961  IPR037990  IPR001609   IPR004009  IPR008989  IPR036103  IPR027417  
  • Prosite: PS51126 PS50096 PS51456 PS51844
  • CDD: cd15477 cd01380
  • PDB: 4J5M 4LNZ 4LWZ 4LX0
  • PDBsum: 4J5M 4LNZ 4LWZ 4LX0
  • STRING: ENSP00000285039
• Other Databases: GeneCards:  MYO5B  Malacards:  MYO5B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000146	microfilament motor activity	IBA	molecular function
GO:0007015	actin filament organization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0030050	vesicle transport along actin filament	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030898	actin-dependent ATPase activity	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0055037	recycling endosome	IC	colocalizes with
GO:0045179	apical cortex	IDA	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016197	endosomal transport	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin 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:0000166	nucleotide binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0003091	renal water homeostasis	TAS	biological process
GO:0000146	microfilament motor activity	TAS	molecular function
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0016192	vesicle-mediated transport	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Congenital diarrhea	KEGG:H01174
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq