• Gene id: 8291

Gene Summary

• Gene Symbol: DYSF   Gene   UCSC   Ensembl
• Aliases: FER1L1, LGMD2B, LGMDR2, MMD1
• Gene name: dysferlin
• Alternate names: dysferlin, dystrophy-associated fer-1-like 1, fer-1-like family member 1, fer-1-like protein 1, limb girdle muscular dystrophy 2B (autosomal recessive),
• Gene location: 2p13.2 (71453153: 71686762)     Exons: 58     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events,
• OMIM: 606910

Protein Summary

• Protein general information: O75923  
  • Name: Dysferlin (Dystrophy associated fer 1 like protein) (Fer 1 like protein 1)
  • Length: 2080  
  • Mass: 237295
  • Tissue specificity: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lo
• Sequence:

  MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETM
  GRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDV
  VADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSRKLLSDKPQDFQIRVQ
  VIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGE
  FRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVA
  LRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFVEVSFAGKMLCSKILEKTANPQWNQNITLPA
  MFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINL
  YGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSLETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYS
  ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQ
  NQLLGIADRLEAGLEQVHLALKAQCSTEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQ
  ITEAALALKLGHSELPAALEQAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCG
  KNCGKLQTIFLKYPMEKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLT
  YPKFSDVTGKIKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDV
  NGEKVLPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDL
  SQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVMDDKSE
  DSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVVVKNTLNPTWD
  QTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPLTRGSQPSGELLASFE
  LIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQRTAIEILAWGLRNMKSYQLA
  NISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPPITVKVIDNRQFGRRPVVGQCTIRSL
  ESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQEEEFIDWWSKFFASIGEREKCGSYLEKDFD
  TLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPSVIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGP
  QECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDY
  DLLSKDEKIGETVVDLENRLLSKFGARCGLPQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQD
  KEYSIEEIEAGRIPNPHLGPVEERLALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPP
  FNITPRRARRFFLRCIIWNTRDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPF
  DYLPAEQVCTIAKKDAFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDA
  FHPEWFVSLFEQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSF
  LWFTSPYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS

• Structural information:
  • Protein Domains: (1..10-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (203..32-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (360..49-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1-)
  • Interpro: IPR000008  IPR035892  IPR037726  IPR037720  IPR037722   IPR037723  IPR037724  IPR037725  IPR029998  IPR012968  IPR037721  IPR012560  IPR012561  IPR032362  IPR006614  
  • Prosite: PS50004
  • CDD: cd08373 cd04011 cd04018 cd04017 cd04037 cd08374
  • PDB: 4CAH 4CAI 4IHB 4IQH
  • PDBsum: 4CAH 4CAI 4IHB 4IQH
  • STRING: ENSP00000386881
• Other Databases: GeneCards:  DYSF  Malacards:  DYSF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061025	membrane fusion	IBA	biological process
GO:0050765	negative regulation of phagocytosis	IBA	biological process
GO:0033292	T-tubule organization	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030315	T-tubule	IBA	cellular component
GO:0006906	vesicle fusion	IBA	biological process
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0002280	monocyte activation involved in immune response	IBA	biological process
GO:0007009	plasma membrane organization	IBA	biological process
GO:0002281	macrophage activation involved in immune response	IBA	biological process
GO:0001778	plasma membrane repair	IBA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050765	negative regulation of phagocytosis	IMP	biological process
GO:0002280	monocyte activation involved in immune response	IMP	biological process
GO:0002281	macrophage activation involved in immune response	IMP	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901842	negative regulation of high voltage-gated calcium channel activity	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0050663	cytokine secretion	IEA	biological process
GO:0048747	muscle fiber development	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0043014	alpha-tubulin binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0019915	lipid storage	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002281	macrophage activation involved in immune response	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001778	plasma membrane repair	IEA	biological process
GO:1902915	negative regulation of protein polyubiquitination	IEA	biological process
GO:0098857	membrane microdomain	IEA	cellular component
GO:0090279	regulation of calcium ion import	IEA	biological process
GO:0071470	cellular response to osmotic stress	IEA	biological process
GO:0050765	negative regulation of phagocytosis	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0033292	T-tubule organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0008017	microtubule binding	IEA	molecular function
GO:0006906	vesicle fusion	IEA	biological process
GO:0006071	glycerol metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002280	monocyte activation involved in immune response	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0030315	T-tubule	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Distal myopathy	KEGG:H00594
Distal myopathy with anterior tibial onset	KEGG:H00566
Miyoshi myopathy	KEGG:H01965
Limb-girdle muscular dystrophy 2B	KEGG:H01974
Limb-girdle muscular dystrophy	KEGG:H00593
Distal myopathy	KEGG:H00594
Distal myopathy with anterior tibial onset	KEGG:H00566
Miyoshi myopathy	KEGG:H01965
Limb-girdle muscular dystrophy	KEGG:H01974
Muscular dystrophy	PMID:9731526
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray