HUMAN:MYOF

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MYOF (synonyms: FER1L3, KIAA1207)
Protein Name(s)	Myoferlin Fer-1-like protein 3
External Links
UniProt	Q9NZM1
EMBL	AF182316 AF182317 AF207990 AB033033 AL365364 AL360229 AL365364 AL360229 AL365364 AL360229 AL360229 AL360229 AL365364 AL360229 AL365364 AL360229 AL365364 BC040110 BC052617 AL096713 AK075258
CCDS	CCDS41550.1 CCDS41551.1
PIR	T12449
RefSeq	NP_038479.1 NP_579899.1
UniGene	Hs.602086
PDB	2DMH 2K2O
PDBsum	2DMH 2K2O
ProteinModelPortal	Q9NZM1
SMR	Q9NZM1
BioGrid	117715
IntAct	Q9NZM1
MINT	MINT-3320110
PhosphoSite	Q9NZM1
DMDM	20139241
MaxQB	Q9NZM1
PaxDb	Q9NZM1
PRIDE	Q9NZM1
Ensembl	ENST00000358334 ENST00000359263 ENST00000371488 ENST00000371489
GeneID	26509
KEGG	hsa:26509
UCSC	uc001kin.3 uc001kio.3 uc001kip.4
CTD	26509
GeneCards	GC10M095057
HGNC	HGNC:3656
HPA	HPA014245
MIM	604603
neXtProt	NX_Q9NZM1
PharmGKB	PA164723288
eggNOG	NOG330124
GeneTree	ENSGT00550000074414
HOVERGEN	HBG018972
InParanoid	Q9NZM1
OMA	QDNNGLC
PhylomeDB	Q9NZM1
TreeFam	TF316871
ChiTaRS	MYOF
EvolutionaryTrace	Q9NZM1
GeneWiki	FER1L3
GenomeRNAi	26509
NextBio	48802
PRO	PR:Q9NZM1
Proteomes	UP000005640
Bgee	Q9NZM1
Genevestigator	Q9NZM1
GO	GO:0005901 GO:0031410 GO:0030659 GO:0070062 GO:0016021 GO:0043231 GO:0005635 GO:0031965 GO:0005886 GO:0005543 GO:0008015 GO:0034605 GO:0006936 GO:0001778 GO:0030947
Gene3D	2.60.40.150
InterPro	IPR000008 IPR012968 IPR012560 IPR012561 IPR029999 IPR006614
PANTHER	PTHR12546:SF38
Pfam	PF00168 PF08165 PF08150 PF08151
SMART	SM00239 SM00694 SM00693
SUPFAM	SSF49562
PROSITE	PS50004

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	PMID:17702744^[1]	ECO:0000314			P		Figure 2 shows EC deficient in myoferlin which show defective membrane repair. Figure 3 shows that myoferlin down-regulation disrupts VEGF intracellular signaling pathways through VEGFR-2 degradation.	complete CACAO 3856
part_of	GO:0070062	extracellular exosome	PMID:23533145^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[3]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:21362503^[4]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(CL:0002367)	Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	PMID:11959863^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005901	caveola	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q69ZN7	C		Seeded From UniProt	complete
enables	GO:0005543	phospholipid binding	PMID:11959863^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005543	phospholipid binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q69ZN7	F		Seeded From UniProt	complete
involved_in	GO:0001778	plasma membrane repair	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q69ZN7	P		Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0048747	muscle fiber development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
involved_in	GO:0034605	cellular response to heat	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
involved_in	GO:0033292	T-tubule organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
involved_in	GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
involved_in	GO:0006071	glycerol metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
part_of	GO:0005901	caveola	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	C		Seeded From UniProt	complete
enables	GO:0005543	phospholipid binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	F		Seeded From UniProt	complete
involved_in	GO:0001778	plasma membrane repair	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q69ZN7 ensembl:ENSMUSP00000045036	P		Seeded From UniProt	complete
involved_in	GO:0007520	myoblast fusion	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR029999	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006614 InterPro:IPR012560 InterPro:IPR012561	C		Seeded From UniProt	complete
involved_in	GO:0008015	blood circulation	PMID:10607832^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	PMID:10607832^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:10607832^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005635	nuclear envelope	PMID:10607832^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C		Seeded From UniProt	complete
part_of	GO:0030659	cytoplasmic vesicle membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0089	C		Seeded From UniProt	complete
part_of	GO:0031965	nuclear membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0182	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Bernatchez, PN et al. (2007) Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J. Biol. Chem. 282 30745-53 PubMed GONUTS page
↑ Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page
↑ ^5.0 ^5.1 Davis, DB et al. (2002) Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J. Biol. Chem. 277 22883-8 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Davis, DB et al. (2000) Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum. Mol. Genet. 9 217-26 PubMed GONUTS page

[PMID:17702744-1] Bernatchez, PN et al. (2007) Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J. Biol. Chem. 282 30745-53 PubMed GONUTS page

[PMID:23533145-2] Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page

[PMID:19056867-3] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:21362503-4] Stamer, WD et al. (2011) Protein profile of exosomes from trabecular meshwork cells. J Proteomics 74 796-804 PubMed GONUTS page

[PMID:11959863-5] 5.0 ^5.1 Davis, DB et al. (2002) Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J. Biol. Chem. 277 22883-8 PubMed GONUTS page

[PMID:10607832-6] 6.0 ^6.1 ^6.2 ^6.3 Davis, DB et al. (2000) Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum. Mol. Genet. 9 217-26 PubMed GONUTS page

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HUMAN:MYOF

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