Mouse Gene Myof (ENSMUST00000041475.15) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus myoferlin (Myof), transcript variant 2, mRNA. (from RefSeq NM_001099634)
RefSeq Summary (NM_001099634): The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014].
Gencode Transcript: ENSMUST00000041475.15
Gencode Gene: ENSMUSG00000048612.16
Transcript (Including UTRs)
   Position: mm10 chr19:37,899,228-38,043,577 Size: 144,350 Total Exon Count: 53 Strand: -
Coding Region
   Position: mm10 chr19:37,899,729-38,043,323 Size: 143,595 Coding Exon Count: 53 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:37,899,228-38,043,577)mRNA (may differ from genome)Protein (2048 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
PubMedSOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MYOF_MOUSE
DESCRIPTION: RecName: Full=Myoferlin; AltName: Full=Fer-1-like protein 3;
FUNCTION: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR.
COFACTOR: Binds calcium ions. The ions are bound to the C2 1 domain.
SUBUNIT: Interacts with EHD2; the interaction is direct (By similarity). Interacts with DNM2 and KDR.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein (By similarity). Nucleus membrane; Single-pass type II membrane protein (By similarity). Cytoplasmic vesicle membrane; Single-pass type II membrane protein (By similarity). Note=Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures (By similarity). Concentrated at the membrane sites of both myoblast- myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels.
TISSUE SPECIFICITY: Expressed in myoblasts (at protein level). Expressed in endothelial cells.
DOMAIN: The C2 1 domain associates with lipid membranes in a calcium-dependent manner (By similarity).
MISCELLANEOUS: Mice lacking Myof display fewer large multinucleated myotubes and are impaired in their ability to regenerate skeletal muscle after injury. They display a defective membrane repair in endothelial cells. They show also a delayed endocytic recycling.
SIMILARITY: Belongs to the ferlin family.
SIMILARITY: Contains 5 C2 domains.
SEQUENCE CAUTION: Sequence=AAH25649.1; Type=Erroneous initiation; Sequence=BAD32409.1; Type=Frameshift; Positions=2020;

-  Primer design for this transcript
 

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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


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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.40254-0.395 Picture PostScript Text
3' UTR -106.38501-0.212 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
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR012968 - FerIin-domain
IPR012560 - Ferlin_A-domain
IPR012561 - Ferlin_B-domain
IPR006614 - Peroxin/Ferlin

Pfam Domains:
PF00168 - C2 domain
PF08150 - FerB (NUC096) domain
PF08151 - FerI (NUC094) domain
PF08165 - FerA (NUC095) domain
PF16165 - Ferlin C-terminus

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)

ModBase Predicted Comparative 3D Structure on Q69ZN7
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-  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.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
GenBankRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005543 phospholipid binding

Biological Process:
GO:0001778 plasma membrane repair
GO:0007520 myoblast fusion
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway
GO:0034605 cellular response to heat

Cellular Component:
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0031965 nuclear membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  LF201760 - JP 2014500723-A/9263: Polycomb-Associated Non-Coding RNAs.
AK173131 - Mus musculus mRNA for mKIAA1207 protein.
BC150790 - Mus musculus myoferlin, mRNA (cDNA clone MGC:183701 IMAGE:9087701), complete cds.
AK086107 - Mus musculus 15 days embryo head cDNA, RIKEN full-length enriched library, clone:D930006D18 product:hypothetical C2 domain/C2-domain profile containing protein, full insert sequence.
AK087302 - Mus musculus 0 day neonate lung cDNA, RIKEN full-length enriched library, clone:E030042N20 product:MYOFERLIN (FER-1 LIKE PROTEIN 3) homolog [Homo sapiens], full insert sequence.
AK087176 - Mus musculus 0 day neonate lung cDNA, RIKEN full-length enriched library, clone:E030032B21 product:weakly similar to MYOFERLIN (FER-1 LIKE PROTEIN 3) [Homo sapiens], full insert sequence.
AK031666 - Mus musculus 13 days embryo male testis cDNA, RIKEN full-length enriched library, clone:6030476O14 product:similar to MYOFERLIN (FER-1 LIKE PROTEIN 3) [Homo sapiens], full insert sequence.
MA437337 - JP 2018138019-A/9263: Polycomb-Associated Non-Coding RNAs.
AK028612 - Mus musculus 10 days neonate skin cDNA, RIKEN full-length enriched library, clone:4732416N11 product:MYOFERLIN (FER-1 LIKE PROTEIN 3) homolog [Homo sapiens], full insert sequence.
BC025449 - Mus musculus myoferlin, mRNA (cDNA clone IMAGE:5344324), with apparent retained intron.
BC055953 - Mus musculus myoferlin, mRNA (cDNA clone IMAGE:4487646), partial cds.
BC051217 - Mus musculus fer-1-like 3, myoferlin (C. elegans), mRNA (cDNA clone IMAGE:1498019).
BC025649 - Mus musculus myoferlin, mRNA (cDNA clone IMAGE:5324940), partial cds.
AK009153 - Mus musculus adult male tongue cDNA, RIKEN full-length enriched library, clone:2310004N10 product:dysferlin, full insert sequence.
LF257979 - JP 2014500723-A/65482: Polycomb-Associated Non-Coding RNAs.
BC044825 - Mus musculus myoferlin, mRNA (cDNA clone IMAGE:4458077), partial cds.
AK075903 - Mus musculus adult male tongue cDNA, RIKEN full-length enriched library, clone:2310051D19 product:MYOFERLIN (FER-1 LIKE PROTEIN 3) homolog [Homo sapiens], full insert sequence.
LF257980 - JP 2014500723-A/65483: Polycomb-Associated Non-Coding RNAs.
LF257981 - JP 2014500723-A/65484: Polycomb-Associated Non-Coding RNAs.
LF257983 - JP 2014500723-A/65486: Polycomb-Associated Non-Coding RNAs.
LF257986 - JP 2014500723-A/65489: Polycomb-Associated Non-Coding RNAs.
LF257987 - JP 2014500723-A/65490: Polycomb-Associated Non-Coding RNAs.
LF257989 - JP 2014500723-A/65492: Polycomb-Associated Non-Coding RNAs.
LF257990 - JP 2014500723-A/65493: Polycomb-Associated Non-Coding RNAs.
LF257991 - JP 2014500723-A/65494: Polycomb-Associated Non-Coding RNAs.
AK041571 - Mus musculus 3 days neonate thymus cDNA, RIKEN full-length enriched library, clone:A630021K08 product:MYOFERLIN (FER-1 LIKE PROTEIN 3) homolog [Homo sapiens], full insert sequence.
LF257993 - JP 2014500723-A/65496: Polycomb-Associated Non-Coding RNAs.
AK197288 - Mus musculus cDNA, clone:Y1G0124K01, strand:plus, reference:ENSEMBL:Mouse-Transcript-ENST:ENSMUST00000041475, based on BLAT search.
LF257996 - JP 2014500723-A/65499: Polycomb-Associated Non-Coding RNAs.
LF257998 - JP 2014500723-A/65501: Polycomb-Associated Non-Coding RNAs.
LF257999 - JP 2014500723-A/65502: Polycomb-Associated Non-Coding RNAs.
LF258000 - JP 2014500723-A/65503: Polycomb-Associated Non-Coding RNAs.
LF258004 - JP 2014500723-A/65507: Polycomb-Associated Non-Coding RNAs.
LF258006 - JP 2014500723-A/65509: Polycomb-Associated Non-Coding RNAs.
LF258014 - JP 2014500723-A/65517: Polycomb-Associated Non-Coding RNAs.
LF258020 - JP 2014500723-A/65523: Polycomb-Associated Non-Coding RNAs.
LF258021 - JP 2014500723-A/65524: Polycomb-Associated Non-Coding RNAs.
LF258023 - JP 2014500723-A/65526: Polycomb-Associated Non-Coding RNAs.
LF258029 - JP 2014500723-A/65532: Polycomb-Associated Non-Coding RNAs.
LF258034 - JP 2014500723-A/65537: Polycomb-Associated Non-Coding RNAs.
LF258039 - JP 2014500723-A/65542: Polycomb-Associated Non-Coding RNAs.
LF258043 - JP 2014500723-A/65546: Polycomb-Associated Non-Coding RNAs.
LF258045 - JP 2014500723-A/65548: Polycomb-Associated Non-Coding RNAs.
LF258049 - JP 2014500723-A/65552: Polycomb-Associated Non-Coding RNAs.
MA493556 - JP 2018138019-A/65482: Polycomb-Associated Non-Coding RNAs.
MA493557 - JP 2018138019-A/65483: Polycomb-Associated Non-Coding RNAs.
MA493558 - JP 2018138019-A/65484: Polycomb-Associated Non-Coding RNAs.
MA493560 - JP 2018138019-A/65486: Polycomb-Associated Non-Coding RNAs.
MA493563 - JP 2018138019-A/65489: Polycomb-Associated Non-Coding RNAs.
MA493564 - JP 2018138019-A/65490: Polycomb-Associated Non-Coding RNAs.
MA493566 - JP 2018138019-A/65492: Polycomb-Associated Non-Coding RNAs.
MA493567 - JP 2018138019-A/65493: Polycomb-Associated Non-Coding RNAs.
MA493568 - JP 2018138019-A/65494: Polycomb-Associated Non-Coding RNAs.
MA493570 - JP 2018138019-A/65496: Polycomb-Associated Non-Coding RNAs.
MA493573 - JP 2018138019-A/65499: Polycomb-Associated Non-Coding RNAs.
MA493575 - JP 2018138019-A/65501: Polycomb-Associated Non-Coding RNAs.
MA493576 - JP 2018138019-A/65502: Polycomb-Associated Non-Coding RNAs.
MA493577 - JP 2018138019-A/65503: Polycomb-Associated Non-Coding RNAs.
MA493581 - JP 2018138019-A/65507: Polycomb-Associated Non-Coding RNAs.
MA493583 - JP 2018138019-A/65509: Polycomb-Associated Non-Coding RNAs.
MA493591 - JP 2018138019-A/65517: Polycomb-Associated Non-Coding RNAs.
MA493597 - JP 2018138019-A/65523: Polycomb-Associated Non-Coding RNAs.
MA493598 - JP 2018138019-A/65524: Polycomb-Associated Non-Coding RNAs.
MA493600 - JP 2018138019-A/65526: Polycomb-Associated Non-Coding RNAs.
MA493606 - JP 2018138019-A/65532: Polycomb-Associated Non-Coding RNAs.
MA493611 - JP 2018138019-A/65537: Polycomb-Associated Non-Coding RNAs.
MA493616 - JP 2018138019-A/65542: Polycomb-Associated Non-Coding RNAs.
MA493620 - JP 2018138019-A/65546: Polycomb-Associated Non-Coding RNAs.
MA493622 - JP 2018138019-A/65548: Polycomb-Associated Non-Coding RNAs.
MA493626 - JP 2018138019-A/65552: Polycomb-Associated Non-Coding RNAs.
LF258062 - JP 2014500723-A/65565: Polycomb-Associated Non-Coding RNAs.
MA493639 - JP 2018138019-A/65565: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: Fer1l3, Kiaa1207, MYOF_MOUSE, NM_001099634, Q69ZN7, Q7TMG0, Q80V33, Q8BU64, Q8BU70, Q8BUC1, Q8BVY6, Q8C0D1, Q8R3B4, uc008hit.1, uc008hit.2
UCSC ID: uc008hit.2
RefSeq Accession: NM_001099634
Protein: Q69ZN7 (aka MYOF_MOUSE)
CCDS: CCDS37970.1

-  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.