Q9ESD7 (DYSF_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dysferlin

Alternative name(s):
Dystrophy-associated fer-1-like protein
Fer-1-like protein 1

Gene names

Name:	Dysf
Synonyms:	Fer1l1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	2090 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. Ref.6 Ref.7 Ref.10
Subunit structure	Interacts with CAV3. Interacts with AHNAK; the interaction is direct and Ca2+-independent. Interacts with AHNAK2; the interaction is direct and Ca2+-independent By similarity. Interacts with ANXA1; the interaction is Ca2+- and injury state-dependent. Interacts with ANXA2; the interaction is Ca2+- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation. Ref.6 Ref.8 Ref.9 Ref.12
Subcellular location	Cell membrane › sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note: Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube By similarity. Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca2+-dependent manner toward the plasma membrane By similarity. Colocalizes with ANXA1 and ANXA2 at the sarcolemma in skeletal muscle. Colocalizes with PARVB at the sarcolemma of skeletal muscle By similarity. Retained by caveolin at the plasmma membrane. Reaches the plasmma membrane through a caveolin-independent mechanism. Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules. Detected on the apical plasma membrane of the syncytiotrophoblast By similarity. Ref.6 Ref.7 Ref.8 Ref.10 Ref.11
Tissue specificity	Expressed in skeletal and cardiac muscles (at protein level). Expressed in skeletal muscle and heart. Also found in brain, liver and kidney. Ref.1 Ref.7
Domain	The C2 domain 1 associates with lipid membranes in a calcium-dependent manner By similarity.
Involvement in disease	Defects in Dysf are the cause of a slowly progressive muscular dystrophy observed in SJL mice. It affects primarily the proximal muscles and it is inherited as autosomal recessive trait.
Miscellaneous	Mice lacking Dysf maintain a functional dystrophin glycoprotein complex (DGC) but their muscle cells are defective in repairing the plasma membrane disruptions and accumulates vesicles at the sarcolemma. They develop a progressive muscular dystrophy and cardiomyopathy.
Sequence similarities	Belongs to the ferlin family. Contains 5 C2 domains.
Sequence caution	The sequence BAD21394.1 differs from that shown. Reason: Erroneous initiation. The sequence CAB63111.1 differs from that shown. Reason: The sequence differs significantly from amino acid position 1855.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasmic vesicle Membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Signal-anchor Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	plasma membrane repair Inferred from mutant phenotype Ref.7. Source: UniProtKB vesicle fusion Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	T-tubule Inferred from direct assay PubMed 16319126. Source: MGI cytoplasmic vesicle Inferred from direct assay Ref.7. Source: UniProtKB cytoplasmic vesicle membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lamellipodium Inferred from direct assay PubMed 18325335. Source: UniProtKB
Molecular_function	calcium-dependent phospholipid binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9ESD7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9ESD7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MLRVFILFAENVHTPDSDISDAYCSAVFA → MLCCLLARASNLPNVKKDRRSDPVASLIFR
     152-152: P → PGGGQSRAETWSLLSDSTMDTRYSGKKWPVPT
     496-510: EEPAGVLKSPQATDL → V
     647-654: Missing.

Isoform 3 (identifier: Q9ESD7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: MLRVFILFAENVHTPDSDISDAYCSAVFA → MLCCLLARASNLPNVKKDRRSDPVASLIFR
     496-510: EEPAGVLKSPQATDL → V
     647-654: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2090	2090	Dysferlin		PRO_0000057880
Regions
	Topological domain	1 – 2056	2056	Cytoplasmic Potential
	Transmembrane	2057 – 2077	21	Helical; Potential
	Topological domain	2078 – 2090	13	Extracellular Potential
	Domain	1 – 85	85	C2 1
	Domain	209 – 304	96	C2 2
	Domain	368 – 486	119	C2 3
	Domain	1149 – 1254	106	C2 4
	Domain	1575 – 1673	99	C2 5
	Compositional bias	1048 – 1107	60	Arg-rich
Natural variations
	Alternative sequence	1 – 29	29	MLRVF…SAVFA → MLCCLLARASNLPNVKKDRR SDPVASLIFR in isoform 2 and isoform 3.		VSP_035930
	Alternative sequence	152	1	P → PGGGQSRAETWSLLSDSTMD TRYSGKKWPVPT in isoform 2.		VSP_035931
	Alternative sequence	496 – 510	15	EEPAG…QATDL → V in isoform 2 and isoform 3.		VSP_035932
	Alternative sequence	647 – 654	8	Missing in isoform 2 and isoform 3.		VSP_035933
Experimental info
	Sequence conflict	467	1	D → G in CAB63111. Ref.4
	Sequence conflict	476	1	T → I in AAG17046. Ref.1
	Sequence conflict	510	1	L → V in CAB63111. Ref.4
	Sequence conflict	684	1	I → T in AAG17046. Ref.1
	Sequence conflict	690 – 691	2	RV → GI in AAG17046. Ref.1
	Sequence conflict	698	1	N → G in AAG17046. Ref.1
	Sequence conflict	712	1	S → T in AAG17046. Ref.1
	Sequence conflict	717	1	A → S in AAG17046. Ref.1
	Sequence conflict	727	1	L → I in AAG17046. Ref.1
	Sequence conflict	885	1	L → F in AAG17046. Ref.1
	Sequence conflict	909 – 910	2	LT → FS in AAG17046. Ref.1
	Sequence conflict	931	1	S → T in AAG17046. Ref.1
	Sequence conflict	953	1	D → A in AAG17046. Ref.1
	Sequence conflict	1175	1	P → A in AAG17046. Ref.1
	Sequence conflict	1187	1	A → S in CAB63111. Ref.4
	Sequence conflict	1694	1	Y → C in AAG17046. Ref.1
	Sequence conflict	1701	1	Q → K in AAG17046. Ref.1
	Sequence conflict	1705	1	Q → K in AAG17046. Ref.1
	Sequence conflict	1806	1	R → Q in AAG17046. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 16, 2008. Version 3. Checksum: 0EBD1E2353946143	FASTA	2,090	237,911
	10 20 30 40 50 60 MLRVFILFAE NVHTPDSDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD 70 80 90 100 110 120 QSSELLVVVK DHETMGRNRF LGEAKIPLQE VLATPSLSAS FNAPLLDAKQ QPTGASLVLQ 130 140 150 160 170 180 VSYTPPPGAV PLFPPPASLA PSPTLPDMDL VPDTGGEEDT EDQGLTGDEA EPFLDQSAAV 190 200 210 220 230 240 GPGGPTTPRK PPSHPPPHYP GAKRKRSSAP PRKLLSDKPQ DFQIRVQVIE GRQLPGVNIK 250 260 270 280 290 300 PVVKVTAAGQ TKRTRIQKGN SPLFNETLFF NVFDSPLELF DEPIFITVVD SRSLRTDALL 310 320 330 340 350 360 GEFRMDVGTV YREPRHAYLR KWLLLSDPDD FSAGARGYLK ASLCVLGPGD EAPLDKKDPS 370 380 390 400 410 420 EDKEDIEGNL LRPTGVALRG AHFCLKLFRA EDLPQMDDAV MDNVKQIFGF DSNKKNLVDP 430 440 450 460 470 480 FVEVSFAGKM LCSKILEKTA NPQWNQNITL PAMFPSMCEK MRIRVMDWDR LTHNDTVATT 490 500 510 520 530 540 YLGMSKISAT GGEIEEEPAG VLKSPQATDL DDNLGFLPTF GPCYVNLYGS PREFTGFPDP 550 560 570 580 590 600 YAELNTGKGE GVAYRGRVLL SLETKLVEHS EQKVEDLPAD DILRVEKYLR RRKYSLFAAF 610 620 630 640 650 660 YSATMLQDVD DAIQFEVSIG NYGNKFDTTC LPLASTTQYS RAVFDGGSLP LPVGCHYYYL 670 680 690 700 710 720 PWGNVKPVVV LSSYWEDISH RIEIQNQLLR VADRLEANLE QVHLALKAQC SSEDVDALVA 730 740 750 760 770 780 QLTDELLADC SQPLCDIHEI PSATHLDQYL LRLRTRHLSQ IKEAALALKL GHSELSTALE 790 800 810 820 830 840 QAEDWLLHLR ALAEEPQNSL PDIIIWMLQG DKRVAYQRVP AHEVLFSRRG PSYCGRNCGK 850 860 870 880 890 900 LQTIFLKYPM EGMPGARMPV QIRIKLWFGL SVDEKEFNQF AEGKLSVFAE TYENQTKLAL 910 920 930 940 950 960 VGNWGTTGLT YPKFSDVTGK IKLPKDSFRP SAGWAWAGDW FVCPEKTLLH DADAGHLSFV 970 980 990 1000 1010 1020 EEVFENQTRL PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS TDLNRAVDEQ 1030 1040 1050 1060 1070 1080 GWEYSITIPP DRKPKHWVPV EKMYYTHRRR RWVRLRRRDL SQMEALKRHR QAEAEGEGWE 1090 1100 1110 1120 1130 1140 YASLFGWKFH LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGMV DDKSEDSMSV 1150 1160 1170 1180 1190 1200 STLSFGVNRP TISCIFDYGN RYHLRCYLYQ ARDLPAMDKD SFSDPYAIVS FLHQSQKTVV 1210 1220 1230 1240 1250 1260 EKNTLNPTWD QTLIFYEIEI FGEPASIAEH PPCIVVELYD HDTYGADEFM GRCICQPSLE 1270 1280 1290 1300 1310 1320 RMPRLAWFPL TRGSQPAGEL LAAFELIQRE KPAIHHIPGF EMHETSRILD ETEDTDLPYP 1330 1340 1350 1360 1370 1380 PPQREANIYM VPQNIKPALQ RTAIEILAWG LRNMKSYQMA SISSPSLVVE CGGQTVQSCV 1390 1400 1410 1420 1430 1440 IRNLRKNPNF DVCTLFMEVM LPREDLYCPP IVVKVIDNRQ FGRRPVVGQC TIRSLENFLC 1450 1460 1470 1480 1490 1500 DPYSAESPSP QGGPDDVSLL SPGEDVLIDI DDKEPLIPVQ EEEFIDWWSK FFASVGEREK 1510 1520 1530 1540 1550 1560 CGSYLEKDFD TLKVYDTQLE NVEAFGGLSD FCNTFKLYRG RTQEETDDPS VIGEFKGLFK 1570 1580 1590 1600 1610 1620 IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD PYIKISIGKK 1630 1640 1650 1660 1670 1680 SVSDQDNYIP CTLEPVFGKM FELTCTLPLE KDLKITLYDY DLLSKDEKIG ETVIDLENRL 1690 1700 1710 1720 1730 1740 LSKFGARCGL PQTYCVSGPN QWRDQLRPSQ LLHLFCQQHR IKAPVYRTDR VTFQDKDYTI 1750 1760 1770 1780 1790 1800 EEIEAGRLPN PHLGPVEERL ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWIDIF 1810 1820 1830 1840 1850 1860 PKVLGRPGPP FNITPRKARR FFLRCIIWNT KDVILDDLSL TGEKMSDIYV KGWMVGFEEH 1870 1880 1890 1900 1910 1920 KQKTDVHYRS LGGEGNFNWR FVFPFDYLPA EQVCAVAKKD AFWRLDKTES KIPARVVFQI 1930 1940 1950 1960 1970 1980 WDNDKFSFDD FLGSLQLDLN RMPKPAKTAE KCSLDQLDDT FHPEWFVSLF EQKTVKGWWP 1990 2000 2010 2020 2030 2040 CVTEEGEKKM LAGKLEMTLE IVAESEHEER PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS 2050 2060 2070 2080 2090 PYKTMKFILW RRFRCAIILF IILFILLLFL GVFVYAFPNY AAMKLVKPFR
	Isoform 2 [UniParc]. Checksum: 3C8A7837C2F78273	FASTA	2,100	239,289
	10 20 30 40 50 60 MLCCLLARAS NLPNVKKDRR SDPVASLIFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL 70 80 90 100 110 120 DQSSELLVVV KDHETMGRNR FLGEAKIPLQ EVLATPSLSA SFNAPLLDAK QQPTGASLVL 130 140 150 160 170 180 QVSYTPPPGA VPLFPPPASL APSPTLPDMD LVPGGGQSRA ETWSLLSDST MDTRYSGKKW 190 200 210 220 230 240 PVPTDTGGEE DTEDQGLTGD EAEPFLDQSA AVGPGGPTTP RKPPSHPPPH YPGAKRKRSS 250 260 270 280 290 300 APPRKLLSDK PQDFQIRVQV IEGRQLPGVN IKPVVKVTAA GQTKRTRIQK GNSPLFNETL 310 320 330 340 350 360 FFNVFDSPLE LFDEPIFITV VDSRSLRTDA LLGEFRMDVG TVYREPRHAY LRKWLLLSDP 370 380 390 400 410 420 DDFSAGARGY LKASLCVLGP GDEAPLDKKD PSEDKEDIEG NLLRPTGVAL RGAHFCLKLF 430 440 450 460 470 480 RAEDLPQMDD AVMDNVKQIF GFDSNKKNLV DPFVEVSFAG KMLCSKILEK TANPQWNQNI 490 500 510 520 530 540 TLPAMFPSMC EKMRIRVMDW DRLTHNDTVA TTYLGMSKIS ATGGEIEVDD NLGFLPTFGP 550 560 570 580 590 600 CYVNLYGSPR EFTGFPDPYA ELNTGKGEGV AYRGRVLLSL ETKLVEHSEQ KVEDLPADDI 610 620 630 640 650 660 LRVEKYLRRR KYSLFAAFYS ATMLQDVDDA IQFEVSIGNY GNKFDTTCLP LASTTQYSRA 670 680 690 700 710 720 VFDGCHYYYL PWGNVKPVVV LSSYWEDISH RIEIQNQLLR VADRLEANLE QVHLALKAQC 730 740 750 760 770 780 SSEDVDALVA QLTDELLADC SQPLCDIHEI PSATHLDQYL LRLRTRHLSQ IKEAALALKL 790 800 810 820 830 840 GHSELSTALE QAEDWLLHLR ALAEEPQNSL PDIIIWMLQG DKRVAYQRVP AHEVLFSRRG 850 860 870 880 890 900 PSYCGRNCGK LQTIFLKYPM EGMPGARMPV QIRIKLWFGL SVDEKEFNQF AEGKLSVFAE 910 920 930 940 950 960 TYENQTKLAL VGNWGTTGLT YPKFSDVTGK IKLPKDSFRP SAGWAWAGDW FVCPEKTLLH 970 980 990 1000 1010 1020 DADAGHLSFV EEVFENQTRL PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS 1030 1040 1050 1060 1070 1080 TDLNRAVDEQ GWEYSITIPP DRKPKHWVPV EKMYYTHRRR RWVRLRRRDL SQMEALKRHR 1090 1100 1110 1120 1130 1140 QAEAEGEGWE YASLFGWKFH LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGMV 1150 1160 1170 1180 1190 1200 DDKSEDSMSV STLSFGVNRP TISCIFDYGN RYHLRCYLYQ ARDLPAMDKD SFSDPYAIVS 1210 1220 1230 1240 1250 1260 FLHQSQKTVV EKNTLNPTWD QTLIFYEIEI FGEPASIAEH PPCIVVELYD HDTYGADEFM 1270 1280 1290 1300 1310 1320 GRCICQPSLE RMPRLAWFPL TRGSQPAGEL LAAFELIQRE KPAIHHIPGF EMHETSRILD 1330 1340 1350 1360 1370 1380 ETEDTDLPYP PPQREANIYM VPQNIKPALQ RTAIEILAWG LRNMKSYQMA SISSPSLVVE 1390 1400 1410 1420 1430 1440 CGGQTVQSCV IRNLRKNPNF DVCTLFMEVM LPREDLYCPP IVVKVIDNRQ FGRRPVVGQC 1450 1460 1470 1480 1490 1500 TIRSLENFLC DPYSAESPSP QGGPDDVSLL SPGEDVLIDI DDKEPLIPVQ EEEFIDWWSK 1510 1520 1530 1540 1550 1560 FFASVGEREK CGSYLEKDFD TLKVYDTQLE NVEAFGGLSD FCNTFKLYRG RTQEETDDPS 1570 1580 1590 1600 1610 1620 VIGEFKGLFK IYPLPEDPAI PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD 1630 1640 1650 1660 1670 1680 PYIKISIGKK SVSDQDNYIP CTLEPVFGKM FELTCTLPLE KDLKITLYDY DLLSKDEKIG 1690 1700 1710 1720 1730 1740 ETVIDLENRL LSKFGARCGL PQTYCVSGPN QWRDQLRPSQ LLHLFCQQHR IKAPVYRTDR 1750 1760 1770 1780 1790 1800 VTFQDKDYTI EEIEAGRLPN PHLGPVEERL ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ 1810 1820 1830 1840 1850 1860 GKLQMWIDIF PKVLGRPGPP FNITPRKARR FFLRCIIWNT KDVILDDLSL TGEKMSDIYV 1870 1880 1890 1900 1910 1920 KGWMVGFEEH KQKTDVHYRS LGGEGNFNWR FVFPFDYLPA EQVCAVAKKD AFWRLDKTES 1930 1940 1950 1960 1970 1980 KIPARVVFQI WDNDKFSFDD FLGSLQLDLN RMPKPAKTAE KCSLDQLDDT FHPEWFVSLF 1990 2000 2010 2020 2030 2040 EQKTVKGWWP CVTEEGEKKM LAGKLEMTLE IVAESEHEER PAGQGRDEPN MNPKLEDPRR 2050 2060 2070 2080 2090 2100 PDTSFLWFTS PYKTMKFILW RRFRCAIILF IILFILLLFL GVFVYAFPNY AAMKLVKPFR
	Isoform 3 [UniParc]. Checksum: BA9E838D870C6396	FASTA	2,069	235,908
	10 20 30 40 50 60 MLCCLLARAS NLPNVKKDRR SDPVASLIFR GVKKRTKVIK NSVNPVWNEG FEWDLKGIPL 70 80 90 100 110 120 DQSSELLVVV KDHETMGRNR FLGEAKIPLQ EVLATPSLSA SFNAPLLDAK QQPTGASLVL 130 140 150 160 170 180 QVSYTPPPGA VPLFPPPASL APSPTLPDMD LVPDTGGEED TEDQGLTGDE AEPFLDQSAA 190 200 210 220 230 240 VGPGGPTTPR KPPSHPPPHY PGAKRKRSSA PPRKLLSDKP QDFQIRVQVI EGRQLPGVNI 250 260 270 280 290 300 KPVVKVTAAG QTKRTRIQKG NSPLFNETLF FNVFDSPLEL FDEPIFITVV DSRSLRTDAL 310 320 330 340 350 360 LGEFRMDVGT VYREPRHAYL RKWLLLSDPD DFSAGARGYL KASLCVLGPG DEAPLDKKDP 370 380 390 400 410 420 SEDKEDIEGN LLRPTGVALR GAHFCLKLFR AEDLPQMDDA VMDNVKQIFG FDSNKKNLVD 430 440 450 460 470 480 PFVEVSFAGK MLCSKILEKT ANPQWNQNIT LPAMFPSMCE KMRIRVMDWD RLTHNDTVAT 490 500 510 520 530 540 TYLGMSKISA TGGEIEVDDN LGFLPTFGPC YVNLYGSPRE FTGFPDPYAE LNTGKGEGVA 550 560 570 580 590 600 YRGRVLLSLE TKLVEHSEQK VEDLPADDIL RVEKYLRRRK YSLFAAFYSA TMLQDVDDAI 610 620 630 640 650 660 QFEVSIGNYG NKFDTTCLPL ASTTQYSRAV FDGCHYYYLP WGNVKPVVVL SSYWEDISHR 670 680 690 700 710 720 IEIQNQLLRV ADRLEANLEQ VHLALKAQCS SEDVDALVAQ LTDELLADCS QPLCDIHEIP 730 740 750 760 770 780 SATHLDQYLL RLRTRHLSQI KEAALALKLG HSELSTALEQ AEDWLLHLRA LAEEPQNSLP 790 800 810 820 830 840 DIIIWMLQGD KRVAYQRVPA HEVLFSRRGP SYCGRNCGKL QTIFLKYPME GMPGARMPVQ 850 860 870 880 890 900 IRIKLWFGLS VDEKEFNQFA EGKLSVFAET YENQTKLALV GNWGTTGLTY PKFSDVTGKI 910 920 930 940 950 960 KLPKDSFRPS AGWAWAGDWF VCPEKTLLHD ADAGHLSFVE EVFENQTRLP GGQWIYMSDN 970 980 990 1000 1010 1020 YTDVNGEKVL PKDDIECPLG WKWEDEEWST DLNRAVDEQG WEYSITIPPD RKPKHWVPVE 1030 1040 1050 1060 1070 1080 KMYYTHRRRR WVRLRRRDLS QMEALKRHRQ AEAEGEGWEY ASLFGWKFHL EYRKTDAFRR 1090 1100 1110 1120 1130 1140 RRWRRRMEPL EKTGPAAVFA LEGALGGMVD DKSEDSMSVS TLSFGVNRPT ISCIFDYGNR 1150 1160 1170 1180 1190 1200 YHLRCYLYQA RDLPAMDKDS FSDPYAIVSF LHQSQKTVVE KNTLNPTWDQ TLIFYEIEIF 1210 1220 1230 1240 1250 1260 GEPASIAEHP PCIVVELYDH DTYGADEFMG RCICQPSLER MPRLAWFPLT RGSQPAGELL 1270 1280 1290 1300 1310 1320 AAFELIQREK PAIHHIPGFE MHETSRILDE TEDTDLPYPP PQREANIYMV PQNIKPALQR 1330 1340 1350 1360 1370 1380 TAIEILAWGL RNMKSYQMAS ISSPSLVVEC GGQTVQSCVI RNLRKNPNFD VCTLFMEVML 1390 1400 1410 1420 1430 1440 PREDLYCPPI VVKVIDNRQF GRRPVVGQCT IRSLENFLCD PYSAESPSPQ GGPDDVSLLS 1450 1460 1470 1480 1490 1500 PGEDVLIDID DKEPLIPVQE EEFIDWWSKF FASVGEREKC GSYLEKDFDT LKVYDTQLEN 1510 1520 1530 1540 1550 1560 VEAFGGLSDF CNTFKLYRGR TQEETDDPSV IGEFKGLFKI YPLPEDPAIP MPPRQFHQLA 1570 1580 1590 1600 1610 1620 AQGPQECLVR IYIVRAFGLQ PKDPNGKCDP YIKISIGKKS VSDQDNYIPC TLEPVFGKMF 1630 1640 1650 1660 1670 1680 ELTCTLPLEK DLKITLYDYD LLSKDEKIGE TVIDLENRLL SKFGARCGLP QTYCVSGPNQ 1690 1700 1710 1720 1730 1740 WRDQLRPSQL LHLFCQQHRI KAPVYRTDRV TFQDKDYTIE EIEAGRLPNP HLGPVEERLA 1750 1760 1770 1780 1790 1800 LHVLQQQGLV PEHVESRPLY SPLQPDIEQG KLQMWIDIFP KVLGRPGPPF NITPRKARRF 1810 1820 1830 1840 1850 1860 FLRCIIWNTK DVILDDLSLT GEKMSDIYVK GWMVGFEEHK QKTDVHYRSL GGEGNFNWRF 1870 1880 1890 1900 1910 1920 VFPFDYLPAE QVCAVAKKDA FWRLDKTESK IPARVVFQIW DNDKFSFDDF LGSLQLDLNR 1930 1940 1950 1960 1970 1980 MPKPAKTAEK CSLDQLDDTF HPEWFVSLFE QKTVKGWWPC VTEEGEKKML AGKLEMTLEI 1990 2000 2010 2020 2030 2040 VAESEHEERP AGQGRDEPNM NPKLEDPRRP DTSFLWFTSP YKTMKFILWR RFRCAIILFI 2050 2060 ILFILLLFLG VFVYAFPNYA AMKLVKPFR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation." Vafiadaki E., Reis A., Keers S., Harrison R., Anderson L.V.B., Raffelsberger T., Ivanova S., Hoeger H., Bittner R.E., Bushby K.M.D., Bashir R. NeuroReport 12:625-629(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. Strain: BALB/c, C57BL/10 and SJL/J. Tissue: Skeletal muscle.
[2]	"Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries." Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Kitamura H., Nakagawa T., Nagase T., Ohara O., Koga H. DNA Res. 11:127-135(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus.
[3]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[4]	"Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B." Bittner R.E., Anderson L.V.B., Burkhardt E., Bashir R., Vafiadaki E., Ivanova S., Raffelsberger T., Maerk I., Hoeger H., Jung M., Karbasiyan M., Storch M., Lassmann H., Moss J.A., Davison K., Harrison R., Bushby K.M.D., Reis A. Nat. Genet. 23:141-142(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 467-1854 (ISOFORMS 1/2). Strain: B6C3FE, BALB/c, C3H, C57BL/10 and C57BL/6. Tissue: Muscle.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1490-2090 (ISOFORMS 1/2/3). Tissue: Mammary tumor.
[6]	"Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing." Lennon N.J., Kho A., Bacskai B.J., Perlmutter S.L., Hyman B.T., Brown R.H. Jr. J. Biol. Chem. 278:50466-50473(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH ANXA1 AND ANXA2, SUBCELLULAR LOCATION.
[7]	"Defective membrane repair in dysferlin-deficient muscular dystrophy." Bansal D., Miyake K., Vogel S.S., Groh S., Chen C.C., Williamson R., McNeil P.L., Campbell K.P. Nature 423:168-172(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[8]	"Intracellular localization of dysferlin and its association with the dihydropyridine receptor." Ampong B.N., Imamura M., Matsumiya T., Yoshida M., Takeda S. Acta Myol. 24:134-144(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CACNA1S, SUBCELLULAR LOCATION.
[9]	"Dysferlin interacts with affixin (beta-parvin) at the sarcolemma." Matsuda C., Kameyama K., Tagawa K., Ogawa M., Suzuki A., Yamaji S., Okamoto H., Nishino I., Hayashi Y.K. J. Neuropathol. Exp. Neurol. 64:334-340(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PARVB.
[10]	"Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury." Han R., Bansal D., Miyake K., Muniz V.P., Weiss R.M., McNeil P.L., Campbell K.P. J. Clin. Invest. 117:1805-1813(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[11]	"Caveolin regulates endocytosis of the muscle repair protein, dysferlin." Hernandez-Deviez D.J., Howes M.T., Laval S.H., Bushby K., Hancock J.F., Parton R.G. J. Biol. Chem. 283:6476-6488(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[12]	"Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin." Cai C., Weisleder N., Ko J.-K., Komazaki S., Sunada Y., Nishi M., Takeshima H., Ma J. J. Biol. Chem. 284:15894-15902(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH TRIM72.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF188290 mRNA. Translation: AAG17046.2. AK131144 mRNA. Translation: BAD21394.1. Different initiation. AC153607 Genomic DNA. No translation available. AC153608 Genomic DNA. No translation available. AJ242954 mRNA. Translation: CAB63111.1. Sequence problems. BC043692 mRNA. Translation: AAH43692.1.
IPI	IPI00113271. IPI00831354. IPI00915517.
RefSeq	NP_067444.2. NM_021469.2.
UniGene	Mm.220982.
3D structure databases
ProteinModelPortal	Q9ESD7.
SMR	Q9ESD7. Positions 1-128, 952-1062, 1156-1275, 1584-1675.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-274938.
PTM databases
PhosphoSite	Q9ESD7.
Proteomic databases
PaxDb	Q9ESD7.
PRIDE	Q9ESD7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000081904; ENSMUSP00000080579; ENSMUSG00000033788. ENSMUST00000113818; ENSMUSP00000109449; ENSMUSG00000033788. ENSMUST00000168387; ENSMUSP00000132297; ENSMUSG00000033788.
GeneID	26903.
KEGG	mmu:26903.
UCSC	uc009cor.1. mouse. uc009cou.1. mouse.
Organism-specific databases
CTD	8291.
MGI	MGI:1349385. Dysf.
Phylogenomic databases
eggNOG	NOG330124.
GeneTree	ENSGT00550000074414.
HOGENOM	HOG000006771.
HOVERGEN	HBG018972.
InParanoid	Q6KAR3.
OMA	KRHRQAE.
Gene expression databases
ArrayExpress	Q9ESD7.
Bgee	Q9ESD7.
CleanEx	MM_DYSF.
Genevestigator	Q9ESD7.
GermOnline	ENSMUSG00000033788. Mus musculus.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR012968. FerIin-domain. IPR012560. Ferlin_A-domain. IPR012561. Ferlin_B-domain. IPR010482. Peroxin/Dysferlin. IPR006614. Peroxin/Ferlin. [Graphical view]
Pfam	PF00168. C2. 8 hits. PF08165. FerA. 1 hit. PF08150. FerB. 1 hit. PF08151. FerI. 1 hit. PF06398. Pex24p. 1 hit. [Graphical view]
SMART	SM00239. C2. 7 hits. SM00694. DysFC. 2 hits. SM00693. DysFN. 2 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 7 hits.
PROSITE	PS50004. C2. 5 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	304757.
SOURCE	Search...

Entry information

Entry name

DYSF_MOUSE

Accession

Primary (citable) accession number: Q9ESD7
Secondary accession number(s): Q6KAR3, Q80VT0, Q9QXC0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	December 16, 2008
Last modified:	May 1, 2013
This is version 107 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program