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Protein

Myoferlin

Gene

Myof

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR.3 Publications

Miscellaneous

Mice lacking Myof display fewer large multinucleated myotubes and are impaired in their ability to regenerate skeletal muscle after injury. They display a defective membrane repair in endothelial cells. They show also a delayed endocytic recycling.

Cofactori

Ca2+Note: Binds Ca2+. The ions are bound to the C2 1 domain.

GO - Molecular functioni

  • phospholipid binding Source: UniProtKB

GO - Biological processi

  • cellular response to heat Source: MGI
  • myoblast fusion Source: InterPro
  • plasma membrane repair Source: UniProtKB
  • regulation of vascular endothelial growth factor receptor signaling pathway Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Myoferlin
Alternative name(s):
Fer-1-like protein 3
Gene namesi
Name:Myof
Synonyms:Fer1l3, Kiaa1207
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 19

Organism-specific databases

MGIiMGI:1919192 Myof

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 2012CytoplasmicSequence analysisAdd BLAST2012
Transmembranei2013 – 2033HelicalSequence analysisAdd BLAST21
Topological domaini2034 – 2048ExtracellularSequence analysisAdd BLAST15

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi67I → D: Reduces calcium-sensitive phospholipid binding. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002816461 – 2048MyoferlinAdd BLAST2048

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei170PhosphoserineCombined sources1
Modified residuei174PhosphoserineCombined sources1
Modified residuei540N6-acetyllysineCombined sources1
Modified residuei871N6-acetyllysineBy similarity1
Modified residuei1494N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiQ69ZN7
PeptideAtlasiQ69ZN7
PRIDEiQ69ZN7

PTM databases

iPTMnetiQ69ZN7
PhosphoSitePlusiQ69ZN7
SwissPalmiQ69ZN7

Expressioni

Tissue specificityi

Expressed in myoblasts (at protein level). Expressed in endothelial cells.2 Publications

Inductioni

Up-regulated during myotube formation.1 Publication

Gene expression databases

BgeeiENSMUSG00000048612
CleanExiMM_FER1L3
ExpressionAtlasiQ69ZN7 baseline and differential
GenevisibleiQ69ZN7 MM

Interactioni

Subunit structurei

Interacts with EHD1 (PubMed:21177873). Interacts with EHD2; the interaction is direct (PubMed:21177873). Interacts with DNM2 and KDR (PubMed:21177873). Interacts with RIPOR2 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi230471, 1 interactor
IntActiQ69ZN7, 4 interactors
MINTiQ69ZN7
STRINGi10090.ENSMUSP00000045036

Structurei

3D structure databases

ProteinModelPortaliQ69ZN7
SMRiQ69ZN7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 85C2 1PROSITE-ProRule annotationAdd BLAST85
Domaini186 – 281C2 2PROSITE-ProRule annotationAdd BLAST96
Domaini345 – 458C2 3PROSITE-ProRule annotationAdd BLAST114
Domaini1113 – 1218C2 4PROSITE-ProRule annotationAdd BLAST106
Domaini1525 – 1625C2 5PROSITE-ProRule annotationAdd BLAST101

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni186 – 281Necessary for interaction with EHD2By similarityAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi145 – 149Poly-Glu5
Compositional biasi615 – 618Poly-Tyr4
Compositional biasi1006 – 1009Poly-Arg4
Compositional biasi1059 – 1065Poly-Arg7
Compositional biasi2018 – 2026Poly-Leu9

Domaini

The C2 1 domain associates with lipid membranes in a calcium-dependent manner.By similarity

Sequence similaritiesi

Belongs to the ferlin family.Curated

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00550000074414
HOVERGENiHBG018972
InParanoidiQ69ZN7
KOiK22125
OMAiQDNNGLC
PhylomeDBiQ69ZN7
TreeFamiTF316871

Family and domain databases

CDDicd08373 C2A_Ferlin, 1 hit
cd04011 C2B_Ferlin, 1 hit
cd04018 C2C_Ferlin, 1 hit
cd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
cd08374 C2F_Ferlin, 1 hit
Gene3Di2.60.40.150, 6 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037726 C2A_Ferlin
IPR037720 C2B_Ferlin
IPR037722 C2C_Ferlin
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037725 C2F_Ferlin
IPR012968 FerIin_dom
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR032362 Ferlin_C
IPR029999 Myoferlin
IPR006614 Peroxin/Ferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF55 PTHR12546:SF55, 1 hit
PfamiView protein in Pfam
PF00168 C2, 7 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
PF08151 FerI, 1 hit
PF16165 Ferlin_C, 1 hit
SMARTiView protein in SMART
SM00239 C2, 7 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
SM01202 FerI, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 5 hits

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q69ZN7-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLRVIVESAT NIPKTKFGKP DPIVSVIFKD EKKKTKKVDN ELNPVWNEIL
60 70 80 90 100
EFDLRGIPLD SSSSLVIVVK DFETIGQNKL IGTATVSLKD LIGDQNRSLP
110 120 130 140 150
YKQTSLLNEK GQDTGATIDL VIGYTPPSAP HPNDPSGTSV PGMGEEEEED
160 170 180 190 200
QGDEDRVDGI VRGPGPKGPS GTVSEAQLAR RITKGKSSRR MLSNKPQDFQ
210 220 230 240 250
IRVRVIEGRQ LCGNNIRPVV KVHICGQTHR TRIKRGNNPF FDELFFYNVH
260 270 280 290 300
ITPSELMDEI ISIRVYNSHS LRADCLMGEF KIDVGFVYDE PGHAVMRKWL
310 320 330 340 350
LLNDPEDTSS GAKGYMKVSM FVLGTGDEPP PEKRDRDNDS DDVESNLLLP
360 370 380 390 400
AGIALRWVTF MLKIYRAEDI PQMDDAFSQT VKEIFGGNAD KKNLVDPFVE
410 420 430 440 450
VSFAGKKVCT NIIERNANPE WNQVVNLQIK FPSMCEKIKL TVYDWDRLTK
460 470 480 490 500
NDVVGTTYLY LSKIAASGGE VEATTGETEV GFVPTFGPCY LNLYGSPREY
510 520 530 540 550
TGFPDPYDEL NSGKGEGVAY RGRIFVELNT FLEKKPPEKK LEPISSDDLL
560 570 580 590 600
VVEKYQRRRK YSLSAVFHSA TMLQDVGEAI QFEVSIGNYG NKFDATCKPL
610 620 630 640 650
ASTTQYSRAV FDGNYYYYLP WAHTKPVVTL TSYWEDISHR LDAVNTLLVM
660 670 680 690 700
AERLQSNIEA VKSGIQGKIP ANQLAEVWLK LIDEVIEDTR YTLPVTEGKA
710 720 730 740 750
NVTVLDTQIR KLRSRFLSQI HEAALRMRSE ATDVKSTLLE IEEWLDKLMQ
760 770 780 790 800
LTEEPQNSMP DIIIWMIRGE KRLAYARIPA HQVLYSTSGG NASGKYCGKT
810 820 830 840 850
QTILLKYPQE KTNGPKVPVE LRVNIWLGLS AVEKKFNSFA EGTFTVFAEM
860 870 880 890 900
YENQALVFGK WGTSGLVGRH KFSDVTGKIK LKREFFLPPK GWEWEGDWVV
910 920 930 940 950
DPERSLLTEA DAGHTEFTDE VYQNENRYPG GEWKQAEDTY TDANGDKAAS
960 970 980 990 1000
PSEMTCPPGW EWEDDAWIYD INRAVDEKGW EYGITIPPDN KPKSWVAAEK
1010 1020 1030 1040 1050
MYHTHRRRRL VRKRKKDLTQ TASSTARAME ELEDREGWEY ASLIGWKFHW
1060 1070 1080 1090 1100
KQRSSDTFRR RRWRRKMAPS ETHGAAAIFK LEGALGADTT EDGEEKGPEK
1110 1120 1130 1140 1150
QKHSATTVFG ANTPIVSCNF DRVYIYHLRC YIYQARNLMA LDKDSFSDPY
1160 1170 1180 1190 1200
AHVSFLHRSK TTEIIHSTLN PTWDQTIIFD EVEIFGEPQT VLQNPPNVTI
1210 1220 1230 1240 1250
ELFDNDQVGK DEFLGRSICS PLVKLNSETD ITPKLLWHPV MNGDKACGDV
1260 1270 1280 1290 1300
LVTAELILRN KDGSNLPILP SQRAPNLYMV PQGIRPVVQL TAIEILAWGL
1310 1320 1330 1340 1350
RNMKNYQMAS VTSPSLVVEC GGERVESVVI KSLKKTPNFP SSVLFMKVFL
1360 1370 1380 1390 1400
PKEELYMPPL VIKVIDHRQF GRKPVVGQCT IDHLDRFRCD PYAGKEDIVP
1410 1420 1430 1440 1450
QLKASLMSAP PCREVVIEIE DTKPLLASKL SEKEEEIVDW WSKFYASSGE
1460 1470 1480 1490 1500
HEKCGQYIQK GYSKLKIYDC ELEDVADFEG LTDFSDTFKL YRGKSDENED
1510 1520 1530 1540 1550
PSVVGEFKGS FRIYPLPDDP SVPAPPRQFR ELPDSVPQEC TVRIYIVQGL
1560 1570 1580 1590 1600
QLQPQDNNGL CDPYIKITLG KKVIEDRDHY IPNTLNPVFG RMYELSCYLP
1610 1620 1630 1640 1650
QEKDLKISVY DYDTFTRDEK VGETTIDLEN RFLSRFGSHC GIPEQYCVSG
1660 1670 1680 1690 1700
VNTWRDQLRP TQLLQNVARF KGFPPPVLSE DGSRIRYGGR DYHLDEFEAN
1710 1720 1730 1740 1750
KILHQHLGAP EERLALHILR TQGLVPEHVE TRTLHSTFQP NISQGKLQMW
1760 1770 1780 1790 1800
VDVFPKSLGP PGPPFNITPR KAKKYYLRVI IWNTKDVILD EKSITGEDMS
1810 1820 1830 1840 1850
DIYVKGWISG SEENKQKTDV HYRSLDGEGN FNWRFVFPFD YLPAEQLCIV
1860 1870 1880 1890 1900
AKKEHFWSID QTEFRVPPRL IIQIWDNDKF SLDDYLGFLE LDLHRTIIPA
1910 1920 1930 1940 1950
KTSEKCSLDM IPDLKAMDPL KAKTASLFEQ RSMKGWWPCY ADKDGTRVMA
1960 1970 1980 1990 2000
GKVEMTLEVL NEREADERPA GKGRSEPNMN PKLDPPNRPE TSFLWFTNPC
2010 2020 2030 2040
KTMRFIVWRR FKWVIIGLLL LLILLLFVAV LLYSLPNYLS MKIVRPNA
Length:2,048
Mass (Da):233,324
Last modified:March 20, 2007 - v2
Checksum:i00D1596472CDFB8E
GO
Isoform 2 (identifier: Q69ZN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-472: E → EDFSSSGAGAASYT
     906-908: LLT → SPR
     909-2048: Missing.

Show »
Length:921
Mass (Da):103,418
Checksum:i76A64E2BC25F2B93
GO
Isoform 3 (identifier: Q69ZN7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     282-292: IDVGFVYDEPG → VSDSSILLSMI
     293-2048: Missing.

Show »
Length:292
Mass (Da):32,410
Checksum:iA854517A1C76D948
GO
Isoform 4 (identifier: Q69ZN7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1346-1570: Missing.

Show »
Length:1,823
Mass (Da):207,604
Checksum:i0D5CFD8AFE594A61
GO

Sequence cautioni

The sequence AAH25649 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD32409 differs from that shown. Reason: Frameshift at position 2020.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti186K → E in BAC39820 (PubMed:16141072).Curated1
Sequence conflicti1322G → R in BAC36043 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024013282 – 292IDVGFVYDEPG → VSDSSILLSMI in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_024014293 – 2048Missing in isoform 3. 1 PublicationAdd BLAST1756
Alternative sequenceiVSP_024015472E → EDFSSSGAGAASYT in isoform 2. 1 Publication1
Alternative sequenceiVSP_024016906 – 908LLT → SPR in isoform 2. 1 Publication3
Alternative sequenceiVSP_024017909 – 2048Missing in isoform 2. 1 PublicationAdd BLAST1140
Alternative sequenceiVSP_0359341346 – 1570Missing in isoform 4. 1 PublicationAdd BLAST225

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK173131 mRNA Translation: BAD32409.1 Sequence problems.
AK031666 mRNA Translation: BAC27500.1
AK075903 mRNA Translation: BAC36043.1
AK086107 mRNA Translation: BAC39611.1
AK087176 mRNA Translation: BAC39820.2
AK087302 mRNA Translation: BAC39840.1
AC115360 Genomic DNA No translation available.
BC025649 mRNA Translation: AAH25649.1 Different initiation.
BC044825 mRNA Translation: AAH44825.1
BC055953 mRNA Translation: AAH55953.1
CCDSiCCDS37970.1 [Q69ZN7-1]
RefSeqiNP_001093104.1, NM_001099634.1 [Q69ZN7-1]
NP_001289069.1, NM_001302140.1
UniGeneiMm.34674

Genome annotation databases

EnsembliENSMUST00000041475; ENSMUSP00000045036; ENSMUSG00000048612 [Q69ZN7-1]
GeneIDi226101
KEGGimmu:226101
UCSCiuc008hit.1 mouse [Q69ZN7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMYOF_MOUSE
AccessioniPrimary (citable) accession number: Q69ZN7
Secondary accession number(s): Q7TMG0
, Q80V33, Q8BU64, Q8BU70, Q8BUC1, Q8BVY6, Q8C0D1, Q8R3B4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: March 28, 2018
This is version 114 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

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