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UniProtKB - Q69ZN7 (MYOF_MOUSE)

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
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 Expressed in 171 organ(s), highest expression level in urinary bladder urothelium
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, 2 interactors
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
OMAiYYLPWAN
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

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9Q390E9Q390_MOUSE
Myoferlin
Myof
2,048Annotation score:
A0A286YDF5A0A286YDF5_MOUSE
Myoferlin
Myof
2,061Annotation score:
A0A286YCZ3A0A286YCZ3_MOUSE
Myoferlin
Myof
1,307Annotation score:
A0A286YDV5A0A286YDV5_MOUSE
Myoferlin
Myof
186Annotation score:
A0A286YE65A0A286YE65_MOUSE
Myoferlin
Myof
85Annotation score:

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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ69ZN7
SMRiQ69ZN7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi230471, 2 interactors
IntActiQ69ZN7, 4 interactors
MINTiQ69ZN7
STRINGi10090.ENSMUSP00000045036

PTM databases

iPTMnetiQ69ZN7
PhosphoSitePlusiQ69ZN7
SwissPalmiQ69ZN7

Proteomic databases

PaxDbiQ69ZN7
PeptideAtlasiQ69ZN7
PRIDEiQ69ZN7

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi26509
MGIiMGI:1919192 Myof
RougeiSearch...

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00550000074414
HOVERGENiHBG018972
InParanoidiQ69ZN7
KOiK22125
OMAiYYLPWAN
PhylomeDBiQ69ZN7
TreeFamiTF316871

Miscellaneous databases

PROiPR:Q69ZN7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000048612 Expressed in 171 organ(s), highest expression level in urinary bladder urothelium
CleanExiMM_FER1L3
ExpressionAtlasiQ69ZN7 baseline and differential
GenevisibleiQ69ZN7 MM

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
ProtoNetiSearch...

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: November 7, 2018
This is version 117 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. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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