Myof myoferlin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Myofprovided by MGI
Official Full Name: myoferlinprovided by MGI
Primary source: MGI:MGI:1919192
See related: Ensembl:ENSMUSG00000048612 AllianceGenome:MGI:1919192
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fer1l3; 2310004N10Rik; 2310051D19Rik; E030042N20Rik
Summary: 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]
Expression: Biased expression in bladder adult (RPKM 56.9), placenta adult (RPKM 16.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C2; 19 32.53 cM

Exon count:: 55

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (37887484..38032025, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (37899036..38043577, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
Title: Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.
A potent and selective small molecule inhibitor of myoferlin attenuates colorectal cancer progression.
Title: A potent and selective small molecule inhibitor of myoferlin attenuates colorectal cancer progression.
Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.
Title: Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.
Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.
Title: Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.
PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis.
Title: PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis.
our findings suggest that MyoF, through stabilizing Dvl-2 and preventing autophagy, regulates Wnt/beta-catenin signaling-mediated skeletal muscle development.
Title: Myoferlin Regulates Wnt/β-Catenin Signaling-Mediated Skeletal Muscle Development by Stabilizing Dishevelled-2 Against Autophagy.
data demonstrate myoferlin's critical role in lysosomal exocytosis by phagocytes
Title: Myoferlin-Mediated Lysosomal Exocytosis Regulates Cytotoxicity by Phagocytes.
these findings demonstrate the importance of dysferlin and myoferlin for transverse tubule function and in the genesis of muscular dystrophy.
Title: Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity.
These data provide the first evidence of myoferlin expression in solid human and mouse tumors.
Title: Expression of myoferlin in human and murine carcinoma tumors: role in membrane repair, cell proliferation, and tumorigenesis.
Myoferlin gene knockdown not only decreases lipid vesicle fusion in EC but also attenuates Vascular Endothelial Growth Factor (VEGF) Receptor-2 (VEGFR-2) expression.
Title: Myoferlin gene silencing decreases Tie-2 expression in vitro and angiogenesis in vivo.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2)
Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Myof (e-PCR), detects polymorphism
- UniSTS:525634

D7S1486 (e-PCR)
- UniSTS:23025

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables phospholipid binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in T-tubule organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within T-tubule organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycerol metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in plasma membrane repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: myoferlin

Names: fer-1-like protein 3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001099634.1 → NP_001093104.1 myoferlin isoform 2

See identical proteins and their annotated locations for NP_001093104.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC115360

Consensus CDS

CCDS37970.1

UniProtKB/Swiss-Prot

Q69ZN7, Q7TMG0, Q80V33, Q8BU64, Q8BU70, Q8BUC1, Q8BVY6, Q8C0D1, Q8R3B4

UniProtKB/TrEMBL

E9Q390

Related

ENSMUSP00000045036.9, ENSMUST00000041475.16

Conserved Domains (12) summary

cd04011
Location:196 → 305

C2B_Ferlin; C2 domain second repeat in Ferlin

cd04017
Location:1126 → 1259

C2D_Ferlin; C2 domain fourth repeat in Ferlin

cd04018
Location:359 → 522

C2C_Ferlin; C2 domain third repeat in Ferlin

cd04037
Location:1541 → 1664

C2E_Ferlin; C2 domain fifth repeat in Ferlin

cd08373
Location:5 → 136

C2A_Ferlin; C2 domain first repeat in Ferlin

cd08374
Location:1777 → 1908

C2F_Ferlin; C2 domain sixth repeat in Ferlin

smart00693
Location:914 → 970

DysFN; Dysferlin domain, N-terminal region

pfam08150
Location:756 → 828

FerB; FerB (NUC096) domain

pfam08151
Location:303 → 353

FerI; FerI (NUC094) domain

pfam08165
Location:667 → 724

FerA; FerA (NUC095) domain

pfam16165
Location:1924 → 2012

Ferlin_C; Ferlin C-terminus

cl14603
Location:1314 → 1382

C2; C2 domain
NM_001302140.1 → NP_001289069.1 myoferlin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK028612, AK075903, AK086107, BB612787, BQ551773, BY743035, CN701681

Consensus CDS

CCDS89386.1

UniProtKB/TrEMBL

A0A286YDF5, B9EK95

Related

ENSMUSP00000153225.2, ENSMUST00000226068.2

Conserved Domains (12) summary

cd04011
Location:196 → 305

C2B_Ferlin; C2 domain second repeat in Ferlin

cd04017
Location:1139 → 1272

C2D_Ferlin; C2 domain fourth repeat in Ferlin

cd04018
Location:359 → 535

C2C_Ferlin; C2 domain third repeat in Ferlin

cd04037
Location:1554 → 1677

C2E_Ferlin; C2 domain fifth repeat in Ferlin

cd08373
Location:5 → 136

C2A_Ferlin; C2 domain first repeat in Ferlin

cd08374
Location:1790 → 1921

C2F_Ferlin; C2 domain sixth repeat in Ferlin

smart00693
Location:927 → 983

DysFN; Dysferlin domain, N-terminal region

pfam08150
Location:769 → 841

FerB; FerB (NUC096) domain

pfam08151
Location:303 → 353

FerI; FerI (NUC094) domain

pfam08165
Location:680 → 737

FerA; FerA (NUC095) domain

pfam16165
Location:1937 → 2025

Ferlin_C; Ferlin C-terminus

cl14603
Location:1327 → 1395

C2; C2 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

37887484..38032025 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526995.2 → XP_006527058.1 myoferlin isoform X2

UniProtKB/TrEMBL

E9Q390

Conserved Domains (12) summary

cd04011
Location:196 → 305

C2B_Ferlin; C2 domain second repeat in Ferlin

cd04017
Location:1126 → 1259

C2D_Ferlin; C2 domain fourth repeat in Ferlin

cd04018
Location:359 → 522

C2C_Ferlin; C2 domain third repeat in Ferlin

cd04037
Location:1560 → 1683

C2E_Ferlin; C2 domain fifth repeat in Ferlin

cd08373
Location:5 → 136

C2A_Ferlin; C2 domain first repeat in Ferlin

cd08374
Location:1796 → 1927

C2F_Ferlin; C2 domain sixth repeat in Ferlin

smart00693
Location:914 → 970

DysFN; Dysferlin domain, N-terminal region

pfam08150
Location:756 → 828

FerB; FerB (NUC096) domain

pfam08151
Location:303 → 353

FerI; FerI (NUC094) domain

pfam08165
Location:667 → 724

FerA; FerA (NUC095) domain

pfam16165
Location:1943 → 2032

Ferlin_C; Ferlin C-terminus

cl14603
Location:1314 → 1382

C2; C2 domain
XM_006526994.2 → XP_006527057.1 myoferlin isoform X1

UniProtKB/TrEMBL

B9EK95

Conserved Domains (12) summary

cd04011
Location:196 → 305

C2B_Ferlin; C2 domain second repeat in Ferlin

cd04017
Location:1139 → 1272

C2D_Ferlin; C2 domain fourth repeat in Ferlin

cd04018
Location:359 → 535

C2C_Ferlin; C2 domain third repeat in Ferlin

cd04037
Location:1573 → 1696

C2E_Ferlin; C2 domain fifth repeat in Ferlin

cd08373
Location:5 → 136

C2A_Ferlin; C2 domain first repeat in Ferlin

cd08374
Location:1809 → 1940

C2F_Ferlin; C2 domain sixth repeat in Ferlin

smart00693
Location:927 → 983

DysFN; Dysferlin domain, N-terminal region

pfam08150
Location:769 → 841

FerB; FerB (NUC096) domain

pfam08151
Location:303 → 353

FerI; FerI (NUC094) domain

pfam08165
Location:680 → 737

FerA; FerA (NUC095) domain

pfam16165
Location:1956 → 2045

Ferlin_C; Ferlin C-terminus

cl14603
Location:1327 → 1395

C2; C2 domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177035.2: Suppressed sequence

Description

NM_177035.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.