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Protein

Unconventional myosin-Ie

Gene

MYO1E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14.3 Publications

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi112 – 119ATPSequence analysis8

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • ATPase activity, coupled Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • calmodulin binding Source: UniProtKB
  • microfilament motor activity Source: UniProtKB
  • motor activity Source: ProtInc
  • phosphatidylinositol binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Myosin
LigandATP-binding, Lipid-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-Ie
Alternative name(s):
Myosin-Ic
Unconventional myosin 1E
Gene namesi
Name:MYO1E
Synonyms:MYO1C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000157483.8
HGNCiHGNC:7599 MYO1E
MIMi601479 gene
neXtProtiNX_Q12965

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

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Focal segmental glomerulosclerosis 6 (FSGS6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.
See also OMIM:614131
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065958159A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 PublicationsCorresponds to variant dbSNP:rs387906807EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4643
MalaCardsiMYO1E
MIMi614131 phenotype
OpenTargetsiENSG00000157483
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
PharmGKBiPA31401

Polymorphism and mutation databases

BioMutaiMYO1E
DMDMi215274106

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001234501 – 1108Unconventional myosin-IeAdd BLAST1108

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei980PhosphoserineCombined sources1
Modified residuei1002PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12965
PaxDbiQ12965
PeptideAtlasiQ12965
PRIDEiQ12965
ProteomicsDBi59057

PTM databases

iPTMnetiQ12965
PhosphoSitePlusiQ12965

Expressioni

Tissue specificityi

Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes.2 Publications

Gene expression databases

BgeeiENSG00000157483 Expressed in 181 organ(s), highest expression level in corpus callosum
CleanExiHS_MYO1C
HS_MYO1E
ExpressionAtlasiQ12965 baseline and differential
GenevisibleiQ12965 HS

Organism-specific databases

HPAiHPA023886

Interactioni

Subunit structurei

Interacts with CALM and F-actin (PubMed:11940582). Interacts (via SH3 domain) with SYNJ1, DNM1 and DNM2 (PubMed:17257598). Interacts with ARL14EP (PubMed:21458045). Interacts with CARMIL1 (PubMed:19846667).4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110727, 70 interactors
CORUMiQ12965
DIPiDIP-884N
IntActiQ12965, 32 interactors
MINTiQ12965
STRINGi9606.ENSP00000288235

Structurei

3D structure databases

ProteinModelPortaliQ12965
SMRiQ12965
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 692Myosin motorPROSITE-ProRule annotationAdd BLAST674
Domaini695 – 724IQPROSITE-ProRule annotationAdd BLAST30
Domaini730 – 922TH1PROSITE-ProRule annotationAdd BLAST193
Domaini1051 – 1108SH3PROSITE-ProRule annotationAdd BLAST58

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni581 – 591Actin-bindingSequence analysisAdd BLAST11

Sequence similaritiesi

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG0164 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00930000150810
HOGENOMiHOG000260265
HOVERGENiHBG100702
InParanoidiQ12965
KOiK10356
OMAiHQGFGDL
OrthoDBiEOG091G0136
PhylomeDBiQ12965
TreeFamiTF312960

Family and domain databases

CDDicd01378 MYSc_Myo1, 1 hit
cd11827 SH3_MyoIe_If_like, 1 hit
Gene3Di3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR035507 Ie/If_SH3
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR010926 Myosin_TH1
IPR036072 MYSc_Myo1
IPR027417 P-loop_NTPase
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00063 Myosin_head, 1 hit
PF06017 Myosin_TH1, 1 hit
PF00018 SH3_1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
PR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00242 MYSc, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS51456 MYOSIN_MOTOR, 1 hit
PS50002 SH3, 1 hit
PS51757 TH1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q12965-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGSKGVYQYH WQSHNVKHSG VDDMVLLSKI TENSIVENLK KRYMDDYIFT
60 70 80 90 100
YIGSVLISVN PFKQMPYFGE KEIEMYQGAA QYENPPHIYA LADNMYRNMI
110 120 130 140 150
IDRENQCVII SGESGAGKTV AAKYIMSYIS RVSGGGTKVQ HVKDIILQSN
160 170 180 190 200
PLLEAFGNAK TVRNNNSSRF GKYFEIQFSP GGEPDGGKIS NFLLEKSRVV
210 220 230 240 250
MRNPGERSFH IFYQLIEGAS AEQKHSLGIT SMDYYYYLSL SGSYKVDDID
260 270 280 290 300
DRREFQETLH AMNVIGIFAE EQTLVLQIVA GILHLGNISF KEVGNYAAVE
310 320 330 340 350
SEEFLAFPAY LLGINQDRLK EKLTSRQMDS KWGGKSESIH VTLNVEQACY
360 370 380 390 400
TRDALAKALH ARVFDFLVDS INKAMEKDHE EYNIGVLDIY GFEIFQKNGF
410 420 430 440 450
EQFCINFVNE KLQQIFIELT LKAEQEEYVQ EGIRWTPIEY FNNKIVCDLI
460 470 480 490 500
ENKVNPPGIM SILDDVCATM HAVGEGADQT LLQKLQMQIG SHEHFNSWNQ
510 520 530 540 550
GFIIHHYAGK VSYDMDGFCE RNRDVLFMDL IELMQSSELP FIKSLFPENL
560 570 580 590 600
QADKKGRPTT AGSKIKKQAN DLVSTLMKCT PHYIRCIKPN ETKKPRDWEE
610 620 630 640 650
SRVKHQVEYL GLKENIRVRR AGYAYRRIFQ KFLQRYAILT KATWPSWQGE
660 670 680 690 700
EKQGVLHLLQ SVNMDSDQFQ LGRSKVFIKA PESLFLLEEM RERKYDGYAR
710 720 730 740 750
VIQKSWRKFV ARKKYVQMRE EASDLLLNKK ERRRNSINRN FIGDYIGMEE
760 770 780 790 800
HPELQQFVGK REKIDFADTV TKYDRRFKGV KRDLLLTPKC LYLIGREKVK
810 820 830 840 850
QGPDKGLVKE VLKRKIEIER ILSVSLSTMQ DDIFILHEQE YDSLLESVFK
860 870 880 890 900
TEFLSLLAKR YEEKTQKQLP LKFSNTLELK LKKENWGPWS AGGSRQVQFH
910 920 930 940 950
QGFGDLAVLK PSNKVLQVSI GPGLPKNSRP TRRNTTQNTG YSSGTQNANY
960 970 980 990 1000
PVRAAPPPPG YHQNGVIRNQ YVPYPHAPGS QRSNQKSLYT SMARPPLPRQ
1010 1020 1030 1040 1050
QSTSSDRVSQ TPESLDFLKV PDQGAAGVRR QTTSRPPPAG GRPKPQPKPK
1060 1070 1080 1090 1100
PQVPQCKALY AYDAQDTDEL SFNANDIIDI IKEDPSGWWT GRLRGKQGLF

PNNYVTKI
Length:1,108
Mass (Da):127,062
Last modified:November 25, 2008 - v2
Checksum:i3073050B9BB4DDC6
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNQ8H0YNQ8_HUMAN
Unconventional myosin-Ie
MYO1E
317Annotation score:
H0YLE5H0YLE5_HUMAN
Unconventional myosin-Ie
MYO1E
187Annotation score:
H0YN00H0YN00_HUMAN
Unconventional myosin-Ie
MYO1E
112Annotation score:
H0YLJ4H0YLJ4_HUMAN
Unconventional myosin-Ie
MYO1E
276Annotation score:
H0YNB0H0YNB0_HUMAN
Unconventional myosin-Ie
MYO1E
73Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti889 – 892WSAG → GVQGA in AAA62667 (PubMed:7932763).Curated4
Sequence conflicti984N → I in AAA62667 (PubMed:7932763).Curated1
Sequence conflicti1097Q → P in AAA62667 (PubMed:7932763).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065958159A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 PublicationsCorresponds to variant dbSNP:rs387906807EnsemblClinVar.1
Natural variantiVAR_065959185D → G1 PublicationCorresponds to variant dbSNP:rs141565214EnsemblClinVar.1
Natural variantiVAR_065960221A → V1 Publication1
Natural variantiVAR_065961795G → R1 PublicationCorresponds to variant dbSNP:rs180951130Ensembl.1
Natural variantiVAR_0659621049P → H1 PublicationCorresponds to variant dbSNP:rs147579391EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U14391 mRNA Translation: AAA62667.1
AC092756 Genomic DNA No translation available.
L29139 mRNA Translation: AAA20902.1
CCDSiCCDS32254.1
PIRiS53601
RefSeqiNP_004989.2, NM_004998.3
UniGeneiHs.654506

Genome annotation databases

EnsembliENST00000288235; ENSP00000288235; ENSG00000157483
GeneIDi4643
KEGGihsa:4643

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U14391 mRNA Translation: AAA62667.1
AC092756 Genomic DNA No translation available.
L29139 mRNA Translation: AAA20902.1
CCDSiCCDS32254.1
PIRiS53601
RefSeqiNP_004989.2, NM_004998.3
UniGeneiHs.654506

3D structure databases

ProteinModelPortaliQ12965
SMRiQ12965
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110727, 70 interactors
CORUMiQ12965
DIPiDIP-884N
IntActiQ12965, 32 interactors
MINTiQ12965
STRINGi9606.ENSP00000288235

PTM databases

iPTMnetiQ12965
PhosphoSitePlusiQ12965

Polymorphism and mutation databases

BioMutaiMYO1E
DMDMi215274106

Proteomic databases

EPDiQ12965
PaxDbiQ12965
PeptideAtlasiQ12965
PRIDEiQ12965
ProteomicsDBi59057

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288235; ENSP00000288235; ENSG00000157483
GeneIDi4643
KEGGihsa:4643

Organism-specific databases

CTDi4643
DisGeNETi4643
EuPathDBiHostDB:ENSG00000157483.8
GeneCardsiMYO1E
H-InvDBiHIX0038144
HGNCiHGNC:7599 MYO1E
HPAiHPA023886
MalaCardsiMYO1E
MIMi601479 gene
614131 phenotype
neXtProtiNX_Q12965
OpenTargetsiENSG00000157483
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
PharmGKBiPA31401
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0164 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00930000150810
HOGENOMiHOG000260265
HOVERGENiHBG100702
InParanoidiQ12965
KOiK10356
OMAiHQGFGDL
OrthoDBiEOG091G0136
PhylomeDBiQ12965
TreeFamiTF312960

Miscellaneous databases

ChiTaRSiMYO1E human
GeneWikiiMYO1E
GenomeRNAii4643
PROiPR:Q12965
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157483 Expressed in 181 organ(s), highest expression level in corpus callosum
CleanExiHS_MYO1C
HS_MYO1E
ExpressionAtlasiQ12965 baseline and differential
GenevisibleiQ12965 HS

Family and domain databases

CDDicd01378 MYSc_Myo1, 1 hit
cd11827 SH3_MyoIe_If_like, 1 hit
Gene3Di3.40.850.10, 1 hit
InterProiView protein in InterPro
IPR035507 Ie/If_SH3
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR010926 Myosin_TH1
IPR036072 MYSc_Myo1
IPR027417 P-loop_NTPase
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00063 Myosin_head, 1 hit
PF06017 Myosin_TH1, 1 hit
PF00018 SH3_1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
PR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00242 MYSc, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS51456 MYOSIN_MOTOR, 1 hit
PS50002 SH3, 1 hit
PS51757 TH1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMYO1E_HUMAN
AccessioniPrimary (citable) accession number: Q12965
Secondary accession number(s): Q14778
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 173 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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