Reactome | DYSF [cytoplasmic vesicle membrane]

DYSF [cytoplasmic vesicle membrane]

Stable Identifier

R-HSA-5263626

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytoplasmic vesicle membrane

Synonyms

Dysferlin, DYSF_HUMAN

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:O75923 DYSF

Gene Names

DYSF, FER1L1

Chain

chain:1-2080

Reference Genes

BioGPS Gene:8291 DYSF

COSMIC (genes):DYSF DYSF

CTD Gene:8291 DYSF

dbSNP Gene:8291 DYSF

ENSEMBL:ENSG00000135636 DYSF

ENSEMBL_homo_sapiens_GENE:ENSG00000135636.16 DYSF

HGNC:3097 DYSF

KEGG Gene (Homo sapiens):8291 DYSF

Monarch:8291 DYSF

NCBI Gene:8291 DYSF

OMIM:603009 DYSF

UCSC:O75923 DYSF

Reference Transcript

Other Identifiers

11719223_a_at

11745836_x_at

11747936_a_at

16881353

218660_3p_at

218660_PM_at

218660_at

2488253

2488254

2488255

2488256

2488260

2488261

2488264

2488265

2488270

2488272

2488273

2488274

2488275

2488278

2488281

2488283

2488284

2488285

2488286

2488287

2488288

2488291

2488293

2488294

2488295

2488297

2488298

2488299

2488303

2488304

2488308

2488309

2488310

2488313

2488314

2488316

2488324

2488328

2488334

2488335

2488336

2488338

2488342

2488343

2488345

2488346

2488349

2488359

2488363

2488364

2488366

2488367

2488368

2488369

2488370

2488372

2488373

2488375

2488380

2488381

2488382

2488383

2488384

2488394

2488395

43293_at

8042637

8291

A_23_P39925

A_23_P39931

GE694385

GE79673

GO:0002280

GO:0002281

GO:0002376

GO:0005509

GO:0005515

GO:0005543

GO:0005544

GO:0005576

GO:0005615

GO:0005768

GO:0005769

GO:0005770

GO:0005815

GO:0005856

GO:0005886

GO:0008289

GO:0016020

GO:0016192

GO:0023052

GO:0030139

GO:0030315

GO:0030659

GO:0030672

GO:0031410

GO:0034451

GO:0042383

GO:0043226

GO:0046872

GO:0046928

GO:0050765

GO:0070062

HMNXSV003046630

ILMN_1810420

PH_hs_0021965

TC02000432.hg

g4503430_3p_at

g4503430_3p_s_at

Participates

as a component of

as an input of

DYSF, CAV3 and TRIM72 bind (Homo sapiens)

Cross References

RefSeq

NP_001124449.1, NP_001124455.1, NP_001124451.1, NP_001124459.1, NP_001124452.1, NP_001124456.1, NP_001123927.1, NP_001124457.1, NP_001124453.1, NP_001124454.1, NP_003485.1, NP_001124448.1, NP_001124450.1, NP_001124458.1

OpenTargets

ENSG00000135636

GeneCards

O75923

HPA

ENSG00000135636-DYSF

Ensembl

ENSP00000386547, ENST00000409744, ENST00000394120, ENST00000413539, ENSP00000386617, ENSP00000386881, ENSP00000386683, ENSP00000398305, ENST00000258104, ENSP00000387137, ENST00000410020, ENSP00000386285, ENST00000409366, ENST00000409582, ENSP00000407046, ENSG00000135636, ENSP00000377678, ENST00000409651, ENST00000429174, ENST00000410041, ENSP00000258104, ENST00000409762, ENSP00000386512

PRO

O75923

Pharos - Targets

O75923

Orphanet

15903

PDB

4IHB, 7KRB, 4CAI, 7JOF, 7K6B, 4IQH, 4CAH

Interactors (16)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q16760 DGKD	1	DGKD [plasma membrane] (R-HSA-426068)	0.505	3
UniProt:O95295 SNAPIN	2	SNAPIN [Golgi membrane] (R-HSA-434344) SNAPIN [cytoplasmic vesicle membrane] (R-HSA-434204)	0.505	3
UniProt:P20929 NEB	1	NEB [cytosol] (R-HSA-390569)	0.505	6
UniProt:Q8N3K9 CMYA5			0.505	3
UniProt:Q8TCU4 ALMS1	1	ALMS1 [cytosol] (R-HSA-380289)	0.505	3
UniProt:Q96CV9 OPTN	5	OPTN [recycling endosome membrane] (R-HSA-8854141) OPTN [Golgi membrane] (R-HSA-2161111) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) p-S177-OPTN [cytosol] (R-HSA-2562525) OPTN [cytosol] (R-HSA-9687907)	0.505	3
UniProt:P17661 DES	1	DES [cytosol] (R-HSA-390570)	0.505	3
UniProt:Q14315 FLNC	1	FLNC [cytosol] (R-HSA-201585)	0.505	3
UniProt:Q9Y3Z3 SAMHD1	1	SAMHD1 [nucleoplasm] (R-HSA-5624198)	0.454	2
UniProt:Q8WZ42 TTN	2	TTN [extracellular region] (R-HSA-350729) TTN [cytosol] (R-HSA-350726)	0.454	17
UniProt:Q9UKG1 APPL1	1	APPL1 [endosome membrane] (R-HSA-373630)	0.454	2
UniProt:P35609 ACTN2	3	ACTN2 [cytosol] (R-HSA-390562) ACTN2 [platelet alpha granule lumen] (R-HSA-349727) ACTN2 [extracellular region] (R-HSA-349725)	0.454	2
UniProt:P52179 MYOM1			0.454	3
UniProt:O75190 DNAJB6	2	DNAJB6 [cytosol] (R-HSA-5252014) DNAJB6 [nucleoplasm] (R-HSA-5255425)	0.454	2
UniProt:Q13326 SGCG			0.454	3
UniProt:P54296 MYOM2			0.454	3

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