HUMAN:DYSF

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DYSF (synonyms: FER1L1)
Protein Name(s)	Dysferlin Dystrophy-associated fer-1-like protein Fer-1-like protein 1
External Links
UniProt	O75923
EMBL	AF075575 DQ267935 DQ976379 EF015906 EU515155 EU515156 EU515157 EU515158 EU515159 EU515160 EU515161 EU515162 EU515163 EU515164 EU515165 EU515166 AC010147 AC104084 CH471053 AJ007670 AJ007973 AK074104 AK074649
CCDS	CCDS1918.1 CCDS46323.1 CCDS46324.1 CCDS46325.1 CCDS46326.1 CCDS46327.1 CCDS46328.1 CCDS46329.1 CCDS46330.1 CCDS46331.1 CCDS46332.1
RefSeq	NP_001123927.1 NP_001124448.1 NP_001124449.1 NP_001124450.1 NP_001124451.1 NP_001124452.1 NP_001124453.1 NP_001124454.1 NP_001124455.1 NP_001124456.1 NP_001124457.1 NP_001124458.1 NP_001124459.1 NP_003485.1
UniGene	Hs.252180
PDB	4CAH 4CAI 4IHB 4IQH
PDBsum	4CAH 4CAI 4IHB 4IQH
ProteinModelPortal	O75923
SMR	O75923
BioGrid	113896
IntAct	O75923
TCDB	1.F.1.2.1
PhosphoSite	O75923
MaxQB	O75923
PaxDb	O75923
PRIDE	O75923
Ensembl	ENST00000258104 ENST00000394120 ENST00000409366 ENST00000409582 ENST00000409651 ENST00000409744 ENST00000409762 ENST00000410020 ENST00000410041 ENST00000413539 ENST00000429174
GeneID	8291
KEGG	hsa:8291
UCSC	uc002sie.3 uc002sif.3 uc002sig.4 uc010fee.3 uc010fef.3 uc010feg.3 uc010feh.3 uc010fei.3 uc010fej.3 uc010fek.3 uc010fel.3 uc010fem.3 uc010fen.3 uc010feo.3
CTD	8291
GeneCards	GC02P071680
GeneReviews	DYSF
HGNC	HGNC:3097
HPA	CAB002510 HPA017071 HPA021945
MIM	253601 254130 603009 606768
neXtProt	NX_O75923
Orphanet	268 199329 178400 45448
PharmGKB	PA27554
eggNOG	NOG330124
GeneTree	ENSGT00550000074414
HOVERGEN	HBG018972
InParanoid	O75923
KO	K18261
OMA	EPLIPIQ
OrthoDB	EOG7CVPWR
PhylomeDB	O75923
TreeFam	TF316871
ChiTaRS	DYSF
GeneWiki	Dysferlin
GenomeRNAi	8291
NextBio	31071
PRO	PR:O75923
Proteomes	UP000005640
Bgee	O75923
ExpressionAtlas	O75923
Genevestigator	O75923
GO	GO:0030659 GO:0005769 GO:0030139 GO:0005768 GO:0070062 GO:0016021 GO:0030027 GO:0005770 GO:0005886 GO:0042383 GO:0030315 GO:0005509 GO:0005544 GO:0005543 GO:0001778 GO:0006906
Gene3D	2.60.40.150
InterPro	IPR000008 IPR029998 IPR012968 IPR012560 IPR012561 IPR010482 IPR006614
PANTHER	PTHR12546:SF35
Pfam	PF00168 PF08165 PF08150 PF08151 PF06398
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
part_of	GO:0005770	late endosome	PMID:20595382^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005769	early endosome	PMID:20595382^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030139	endocytic vesicle	PMID:20595382^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005768	endosome	PMID:20595382^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:20595382^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
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:0042383	sarcolemma	PMID:17185750^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001134)	Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	PMID:17185750^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001134)	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:24239457^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005544	calcium-dependent phospholipid binding	PMID:11959863^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005543	phospholipid binding	PMID:24239457^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0005509	calcium ion binding	PMID:24239457^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0050765	negative regulation of phagocytosis	PMID:18276788^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002281	macrophage activation involved in immune response	PMID:18276788^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002280	monocyte activation involved in immune response	PMID:18276788^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		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
part_of	GO:0005815	microtubule organizing center	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1902915	negative regulation of protein polyubiquitination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:1901842	negative regulation of high voltage-gated calcium channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
part_of	GO:0098857	membrane microdomain	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
involved_in	GO:0090279	regulation of calcium ion import	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0090023	positive regulation of neutrophil chemotaxis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0071470	cellular response to osmotic stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0050765	negative regulation of phagocytosis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0050663	cytokine secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0048747	muscle fiber development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0045785	positive regulation of cell adhesion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0043403	skeletal muscle tissue regeneration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
enables	GO:0043014	alpha-tubulin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	F		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
involved_in	GO:0042177	negative regulation of protein catabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	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:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
part_of	GO:0030027	lamellipodium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
involved_in	GO:0019915	lipid storage	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0010629	negative regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
enables	GO:0008017	microtubule binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	F		Seeded From UniProt	complete
involved_in	GO:0006906	vesicle fusion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	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:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
part_of	GO:0005874	microtubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	C		Seeded From UniProt	complete
involved_in	GO:0002281	macrophage activation involved in immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0002280	monocyte activation involved in immune response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0001938	positive regulation of endothelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0001778	plasma membrane repair	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	P		Seeded From UniProt	complete
involved_in	GO:0001525	angiogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9ESD7 ensembl:ENSMUSP00000080579	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
part_of	GO:0005886	plasma membrane	PMID:10496277^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030659	cytoplasmic vesicle membrane	Reactome:R-HSA-5263633	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0006936	muscle contraction	Reactome:R-HSA-445355	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		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: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
enables	GO:0008289	lipid binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0446	F		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:0042383	sarcolemma	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0238	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
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 Evesson, FJ et al. (2010) Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. J. Biol. Chem. 285 28529-39 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
↑ ^4.0 ^4.1 Huang, Y et al. (2007) AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 21 732-42 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Fuson, K et al. (2014) Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repair. Structure 22 104-15 PubMed GONUTS page
↑ 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
↑ ^7.0 ^7.1 ^7.2 Nagaraju, K et al. (2008) Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am. J. Pathol. 172 774-85 PubMed GONUTS page
↑ Matsuda, C et al. (1999) Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 53 1119-22 PubMed GONUTS page

[PMID:20595382-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 Evesson, FJ et al. (2010) Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. J. Biol. Chem. 285 28529-39 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:17185750-4] 4.0 ^4.1 Huang, Y et al. (2007) AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 21 732-42 PubMed GONUTS page

[PMID:24239457-5] 5.0 ^5.1 ^5.2 Fuson, K et al. (2014) Alternate splicing of dysferlin C2A confers Ca²⁺-dependent and Ca²⁺-independent binding for membrane repair. Structure 22 104-15 PubMed GONUTS page

[PMID:11959863-6] 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:18276788-7] 7.0 ^7.1 ^7.2 Nagaraju, K et al. (2008) Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am. J. Pathol. 172 774-85 PubMed GONUTS page

[PMID:10496277-8] Matsuda, C et al. (1999) Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 53 1119-22 PubMed GONUTS page

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HUMAN:DYSF

Contents

Annotations

Notes

References

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