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Protein

Unconventional myosin-Ie

Gene

MYO1E

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Lipid-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157483-MONOMER.

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

HGNCiHGNC:7599. MYO1E.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: ProtInc
  • adherens junction Source: UniProtKB
  • brush border Source: Ensembl
  • cell-cell junction Source: UniProtKB
  • clathrin-coated vesicle Source: UniProtKB-SubCell
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • myosin complex Source: UniProtKB
Complete GO annotation...

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 rs387906807dbSNPEnsembl.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.

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.
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

WithEntry#Exp.IntActNotes
ARL14EPQ8N8R72EBI-4279548,EBI-2807994
Dnm1P215752EBI-4279548,EBI-80070From a different organism.
DNM2P505702EBI-4279548,EBI-346547
Synj1Q629102EBI-4279548,EBI-1149123From a different organism.

GO - Molecular functioni

  • actin filament binding Source: UniProtKB
  • calmodulin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110727. 66 interactors.
DIPiDIP-884N.
IntActiQ12965. 31 interactors.
MINTiMINT-3026848.
STRINGi9606.ENSP00000288235.

Structurei

3D structure databases

ProteinModelPortaliQ12965.
SMRiQ12965.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 692Myosin motorAdd 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

Contains 1 IQ domain.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated
Contains 1 SH3 domain.PROSITE-ProRule annotation
Contains 1 TH1 (class I myosin tail homology) domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG0164. Eukaryota.
COG5022. LUCA.
GeneTreeiENSGT00840000129697.
HOGENOMiHOG000260265.
HOVERGENiHBG100702.
InParanoidiQ12965.
KOiK10356.
OMAiATWPSWQ.
OrthoDBiEOG091G0136.
PhylomeDBiQ12965.
TreeFamiTF312960.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_TH1.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
PR00452. SH3DOMAIN.
SMARTiSM00242. MYSc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
PS50002. SH3. 1 hit.
PS51757. TH1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 rs387906807dbSNPEnsembl.1
Natural variantiVAR_065959185D → G.1 PublicationCorresponds to variant rs141565214dbSNPEnsembl.1
Natural variantiVAR_065960221A → V.1 Publication1
Natural variantiVAR_065961795G → R.1 PublicationCorresponds to variant rs180951130dbSNPEnsembl.1
Natural variantiVAR_0659621049P → H.1 PublicationCorresponds to variant rs147579391dbSNPEnsembl.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

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. 66 interactors.
DIPiDIP-884N.
IntActiQ12965. 31 interactors.
MINTiMINT-3026848.
STRINGi9606.ENSP00000288235.

PTM databases

iPTMnetiQ12965.
PhosphoSitePlusiQ12965.

Polymorphism and mutation databases

BioMutaiMYO1E.
DMDMi215274106.

Proteomic databases

EPDiQ12965.
PaxDbiQ12965.
PeptideAtlasiQ12965.
PRIDEiQ12965.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288235; ENSP00000288235; ENSG00000157483.
GeneIDi4643.
KEGGihsa:4643.

Organism-specific databases

CTDi4643.
DisGeNETi4643.
GeneCardsiMYO1E.
H-InvDBHIX0038144.
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.
GeneTreeiENSGT00840000129697.
HOGENOMiHOG000260265.
HOVERGENiHBG100702.
InParanoidiQ12965.
KOiK10356.
OMAiATWPSWQ.
OrthoDBiEOG091G0136.
PhylomeDBiQ12965.
TreeFamiTF312960.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157483-MONOMER.

Miscellaneous databases

ChiTaRSiMYO1E. human.
GeneWikiiMYO1E.
GenomeRNAii4643.
PROiQ12965.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157483.
CleanExiHS_MYO1C.
HS_MYO1E.
ExpressionAtlasiQ12965. baseline and differential.
GenevisibleiQ12965. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_TH1.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
PR00452. SH3DOMAIN.
SMARTiSM00242. MYSc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
PS50002. SH3. 1 hit.
PS51757. TH1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMYO1E_HUMAN
AccessioniPrimary (citable) accession number: Q12965
Secondary accession number(s): Q14778
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 158 of the entry and version 2 of the sequence. [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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.