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Q12965

- MYO1E_HUMAN

UniProt

Q12965 - MYO1E_HUMAN

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Protein

Unconventional myosin-Ie

Gene
MYO1E, MYO1C
Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi112 – 1198ATP Reviewed prediction

GO - Molecular functioni

  1. actin filament binding Source: UniProtKB
  2. ATPase activity, coupled Source: UniProtKB
  3. ATP binding Source: UniProtKB-KW
  4. calmodulin binding Source: UniProtKB
  5. microfilament motor activity Source: UniProtKB
  6. motor activity Source: ProtInc
  7. phosphatidylinositol binding Source: UniProtKB
  8. protein binding Source: IntAct

GO - Biological processi

  1. actin filament-based movement Source: UniProtKB
  2. ATP catabolic process Source: GOC
  3. endocytosis Source: UniProtKB
  4. glomerular basement membrane development Source: UniProtKB
  5. glomerular filtration Source: UniProtKB
  6. glomerular visceral epithelial cell development Source: UniProtKB
  7. in utero embryonic development Source: Ensembl
  8. platelet-derived growth factor receptor signaling pathway Source: Ensembl
  9. post-embryonic hemopoiesis Source: Ensembl
  10. vasculogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:7599. MYO1E.

Subcellular locationi

Cytoplasm. Cytoplasmcytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicleclathrin-coated vesicle. Cell junction By similarity
Note: Colocalizes with F-actin By similarity. In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips. Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles. Colocalizes with dynamin at cytoplasmic vesicles.3 Publications

GO - Cellular componenti

  1. actin cytoskeleton Source: ProtInc
  2. adherens junction Source: UniProtKB
  3. cell-cell junction Source: UniProtKB
  4. clathrin-coated vesicle Source: UniProtKB-SubCell
  5. cytoplasm Source: UniProtKB
  6. cytoskeleton Source: UniProtKB
  7. extracellular vesicular exosome Source: UniProt
  8. 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) [MIM:614131]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 Publications
VAR_065958

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614131. phenotype.
Orphaneti93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBiPA31401.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11081108Unconventional myosin-IePRO_0000123450Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei980 – 9801Phosphoserine2 Publications
Modified residuei1002 – 10021Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ12965.
PaxDbiQ12965.
PRIDEiQ12965.

PTM databases

PhosphoSiteiQ12965.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ12965.
BgeeiQ12965.
CleanExiHS_MYO1C.
HS_MYO1E.
GenevestigatoriQ12965.

Organism-specific databases

HPAiHPA023886.

Interactioni

Subunit structurei

Interacts with CALM and F-actin By similarity. Interacts (via SH3 domain) with SYNJ1, DNM1 and DNM2. Interacts with ARL14EP.3 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.

Protein-protein interaction databases

BioGridi110727. 27 interactions.
DIPiDIP-884N.
IntActiQ12965. 7 interactions.
MINTiMINT-3026848.
STRINGi9606.ENSP00000288235.

Structurei

3D structure databases

ProteinModelPortaliQ12965.
SMRiQ12965. Positions 1054-1108.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 692674Myosin motorAdd
BLAST
Domaini695 – 72430IQAdd
BLAST
Domaini1051 – 110858SH3Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni581 – 59111Actin-binding Reviewed predictionAdd
BLAST

Sequence similaritiesi

Contains 1 IQ domain.
Contains 1 SH3 domain.

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiCOG5022.
HOGENOMiHOG000260265.
HOVERGENiHBG100702.
InParanoidiQ12965.
KOiK10356.
OMAiKLKKENW.
OrthoDBiEOG7V49XQ.
PhylomeDBiQ12965.
TreeFamiTF312960.

Family and domain databases

InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_tail_2.
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.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q12965-1 [UniParc]FASTAAdd to Basket

« Hide

MGSKGVYQYH WQSHNVKHSG VDDMVLLSKI TENSIVENLK KRYMDDYIFT     50
YIGSVLISVN PFKQMPYFGE KEIEMYQGAA QYENPPHIYA LADNMYRNMI 100
IDRENQCVII SGESGAGKTV AAKYIMSYIS RVSGGGTKVQ HVKDIILQSN 150
PLLEAFGNAK TVRNNNSSRF GKYFEIQFSP GGEPDGGKIS NFLLEKSRVV 200
MRNPGERSFH IFYQLIEGAS AEQKHSLGIT SMDYYYYLSL SGSYKVDDID 250
DRREFQETLH AMNVIGIFAE EQTLVLQIVA GILHLGNISF KEVGNYAAVE 300
SEEFLAFPAY LLGINQDRLK EKLTSRQMDS KWGGKSESIH VTLNVEQACY 350
TRDALAKALH ARVFDFLVDS INKAMEKDHE EYNIGVLDIY GFEIFQKNGF 400
EQFCINFVNE KLQQIFIELT LKAEQEEYVQ EGIRWTPIEY FNNKIVCDLI 450
ENKVNPPGIM SILDDVCATM HAVGEGADQT LLQKLQMQIG SHEHFNSWNQ 500
GFIIHHYAGK VSYDMDGFCE RNRDVLFMDL IELMQSSELP FIKSLFPENL 550
QADKKGRPTT AGSKIKKQAN DLVSTLMKCT PHYIRCIKPN ETKKPRDWEE 600
SRVKHQVEYL GLKENIRVRR AGYAYRRIFQ KFLQRYAILT KATWPSWQGE 650
EKQGVLHLLQ SVNMDSDQFQ LGRSKVFIKA PESLFLLEEM RERKYDGYAR 700
VIQKSWRKFV ARKKYVQMRE EASDLLLNKK ERRRNSINRN FIGDYIGMEE 750
HPELQQFVGK REKIDFADTV TKYDRRFKGV KRDLLLTPKC LYLIGREKVK 800
QGPDKGLVKE VLKRKIEIER ILSVSLSTMQ DDIFILHEQE YDSLLESVFK 850
TEFLSLLAKR YEEKTQKQLP LKFSNTLELK LKKENWGPWS AGGSRQVQFH 900
QGFGDLAVLK PSNKVLQVSI GPGLPKNSRP TRRNTTQNTG YSSGTQNANY 950
PVRAAPPPPG YHQNGVIRNQ YVPYPHAPGS QRSNQKSLYT SMARPPLPRQ 1000
QSTSSDRVSQ TPESLDFLKV PDQGAAGVRR QTTSRPPPAG GRPKPQPKPK 1050
PQVPQCKALY AYDAQDTDEL SFNANDIIDI IKEDPSGWWT GRLRGKQGLF 1100
PNNYVTKI 1108
Length:1,108
Mass (Da):127,062
Last modified:November 25, 2008 - v2
Checksum:i3073050B9BB4DDC6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591A → P in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern. 2 Publications
VAR_065958
Natural varianti185 – 1851D → G.1 Publication
Corresponds to variant rs141565214 [ dbSNP | Ensembl ].
VAR_065959
Natural varianti221 – 2211A → V.1 Publication
VAR_065960
Natural varianti795 – 7951G → R.1 Publication
Corresponds to variant rs180951130 [ dbSNP | Ensembl ].
VAR_065961
Natural varianti1049 – 10491P → H.1 Publication
Corresponds to variant rs147579391 [ dbSNP | Ensembl ].
VAR_065962

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti889 – 8924WSAG → GVQGA in AAA62667. 1 Publication
Sequence conflicti984 – 9841N → I in AAA62667. 1 Publication
Sequence conflicti1097 – 10971Q → P in AAA62667. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002aga.4. human.

Polymorphism databases

DMDMi215274106.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U14391 mRNA. Translation: AAA62667.1 .
AC092756 Genomic DNA. No translation available.
L29139 mRNA. Translation: AAA20902.1 .
CCDSi CCDS32254.1.
PIRi S53601.
RefSeqi NP_004989.2. NM_004998.3.
UniGenei Hs.654506.

3D structure databases

ProteinModelPortali Q12965.
SMRi Q12965. Positions 1054-1108.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110727. 27 interactions.
DIPi DIP-884N.
IntActi Q12965. 7 interactions.
MINTi MINT-3026848.
STRINGi 9606.ENSP00000288235.

PTM databases

PhosphoSitei Q12965.

Polymorphism databases

DMDMi 215274106.

Proteomic databases

MaxQBi Q12965.
PaxDbi Q12965.
PRIDEi Q12965.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000288235 ; ENSP00000288235 ; ENSG00000157483 .
GeneIDi 4643.
KEGGi hsa:4643.
UCSCi uc002aga.4. human.

Organism-specific databases

CTDi 4643.
GeneCardsi GC15M059428.
H-InvDB HIX0038144.
HGNCi HGNC:7599. MYO1E.
HPAi HPA023886.
MIMi 601479. gene.
614131. phenotype.
neXtProti NX_Q12965.
Orphaneti 93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
PharmGKBi PA31401.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
HOGENOMi HOG000260265.
HOVERGENi HBG100702.
InParanoidi Q12965.
KOi K10356.
OMAi KLKKENW.
OrthoDBi EOG7V49XQ.
PhylomeDBi Q12965.
TreeFami TF312960.

Miscellaneous databases

ChiTaRSi MYO1E. human.
GeneWikii MYO1E.
GenomeRNAii 4643.
NextBioi 17892.
PROi Q12965.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q12965.
Bgeei Q12965.
CleanExi HS_MYO1C.
HS_MYO1E.
Genevestigatori Q12965.

Family and domain databases

InterProi IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR010926. Myosin_tail_2.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF00063. Myosin_head. 1 hit.
PF06017. Myosin_TH1. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
PR00452. SH3DOMAIN.
SMARTi SM00242. MYSc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEi PS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain."
    Bement W.M., Wirth J.A., Mooseker M.S.
    J. Mol. Biol. 243:356-363(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."
    Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S.
    Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 107-196.
  4. Cited for: FUNCTION IN ATP HYDROLYSIS, INTERACTION WITH F-ACTIN AND CALM.
  5. "Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis."
    Krendel M., Osterweil E.K., Mooseker M.S.
    FEBS Lett. 581:644-650(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SYNJ1; DNM1 AND DNM2.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-980 AND SER-1002, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Myo1e binds anionic phospholipids with high affinity."
    Feeser E.A., Ignacio C.M., Krendel M., Ostap E.M.
    Biochemistry 49:9353-9360(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-980, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "A Genome-wide multidimensional RNAi screen reveals pathways controlling MHC class II antigen presentation."
    Paul P., van den Hoorn T., Jongsma M.L., Bakker M.J., Hengeveld R., Janssen L., Cresswell P., Egan D.A., van Ham M., Ten Brinke A., Ovaa H., Beijersbergen R.L., Kuijl C., Neefjes J.
    Cell 145:268-283(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ARL14EP, TISSUE SPECIFICITY.
  11. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT FSGS6 PRO-159, VARIANTS GLY-185; VAL-221; ARG-795 AND HIS-1049, CHARACTERIZATION OF VARIANT FSGS6 PRO-159.
  12. Cited for: VARIANT FSGS6 PRO-159.

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: July 9, 2014
This is version 137 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).

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

External Data

Dasty 3

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