Human Gene MYO5B (ENST00000285039.12_7) from GENCODE V47lift37
  Description: myosin VB (from RefSeq NM_001080467.3)
Gencode Transcript: ENST00000285039.12_7
Gencode Gene: ENSG00000167306.21_15
Transcript (Including UTRs)
   Position: hg19 chr18:47,349,159-47,721,517 Size: 372,359 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg19 chr18:47,352,841-47,721,163 Size: 368,323 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:47,349,159-47,721,517)mRNA (may differ from genome)Protein (1848 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYO5B_HUMAN
DESCRIPTION: RecName: Full=Unconventional myosin-Vb;
FUNCTION: May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis (By similarity).
SUBUNIT: Component of the CART complex, at least composed of ACTN4, HGS/HRS, MYO5B and TRIM3. Interacts with RAB11FIP2, RAB11A, and RAB8A. Found in a complex with CFTR and RAB11A. Interacts with NPC1L1.
DISEASE: Defects in MYO5B are a cause of diarrhea type 2 (DIAR2) [MIM:251850]. DIAR2 is characterized by onset of intractable life- threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.
SIMILARITY: Contains 1 dilute domain.
SIMILARITY: Contains 6 IQ domains.
SIMILARITY: Contains 1 myosin head-like domain.
SEQUENCE CAUTION: Sequence=BAA86433.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYO5B
Diseases sorted by gene-association score: microvillus inclusion disease* (1689), cholestasis, progressive familial intrahepatic 2* (202), cholestasis, progressive familial intrahepatic 1* (202), congenital diarrhea (27), diarrhea (19), diarrhea 5, with tufting enteropathy, congenital (13), secretory diarrhea (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.27 RPKM in Esophagus - Mucosa
Total median expression: 103.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -210.40354-0.594 Picture PostScript Text
3' UTR -839.703682-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018444 - Dil_domain
IPR002710 - Dilute
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif
PF01843 - DIL domain

SCOP Domains:
50084 - Myosin S1 fragment, N-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q9ULV0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0017137 Rab GTPase binding
GO:0051015 actin filament binding

Biological Process:
GO:0003091 renal water homeostasis
GO:0007018 microtubule-based movement
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0016197 endosomal transport

Cellular Component:
GO:0005737 cytoplasm
GO:0016459 myosin complex
GO:0030659 cytoplasmic vesicle membrane
GO:0032991 macromolecular complex
GO:0045179 apical cortex
GO:0070062 extracellular exosome
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  AB032945 - Homo sapiens KIAA1119 mRNA for KIAA1119 protein.
AB290160 - Homo sapiens mRNA for MYO5B/KIAA1119 variant protein, complete cds.
AK093149 - Homo sapiens cDNA FLJ35830 fis, clone TESTI2006465, highly similar to Myosin-5B.
AX747955 - Sequence 1480 from Patent EP1308459.
AY274809 - Homo sapiens myosin 5B (MYO5B) mRNA, complete cds.
AK301976 - Homo sapiens cDNA FLJ58435 complete cds, highly similar to Myosin-5B.
AB384567 - Synthetic construct DNA, clone: pF1KA1119, Homo sapiens MYO5B gene for myosin-Vb, complete cds, without stop codon, in Flexi system.
BC033527 - Homo sapiens myosin VB, mRNA (cDNA clone IMAGE:5162990), complete cds.
AL133643 - Homo sapiens mRNA; cDNA DKFZp434F1314 (from clone DKFZp434F1314).
AK025336 - Homo sapiens cDNA: FLJ21683 fis, clone COL09335.
JD328013 - Sequence 309037 from Patent EP1572962.
JD049390 - Sequence 30414 from Patent EP1572962.
L29143 - Homo sapiens myosin mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9ULV0 (Reactome details) participates in the following event(s):

R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-445717 Aquaporin-mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B0I1R3, ENST00000285039.1, ENST00000285039.10, ENST00000285039.11, ENST00000285039.2, ENST00000285039.3, ENST00000285039.4, ENST00000285039.5, ENST00000285039.6, ENST00000285039.7, ENST00000285039.8, ENST00000285039.9, KIAA1119, MYO5B_HUMAN, NM_001080467, Q0P656, Q9H6Y6, Q9ULV0, uc317kgr.1, uc317kgr.2
UCSC ID: ENST00000285039.12_7
RefSeq Accession: NM_001080467.3
Protein: Q9ULV0 (aka MYO5B_HUMAN or MY5B_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYO5B:
chol-liver-ov (Pediatric Genetic Cholestatic Liver Disease Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.