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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYO1E Gene

protein-coding GIFtS: 61
GCID: GC15M059428

myosin IE

Explore 9 diseases affiliated with
MYO1E via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin IE¹ ²		FSGS6²
MYO1C¹ ² ³ ⁵		MYO1E Variant Protein²
HuncM-IC¹ ²		Myosin-IC¹
Unconventional Myosin 1E² ³		Unconventional Myosin-Ie²
MGC104638¹		Myosin-Ic³

External Ids:	HGNC: 7599¹	Entrez Gene: 4643²	Ensembl: ENSG00000157483⁷	OMIM: 601479⁵	UniProtKB: Q12965³

Export aliases for MYO1E gene to outside databases

Previous GC identifers: GC15M054985 GC15M052475 GC15M057007 GC15M057144 GC15M057215 GC15M036250

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO1E:

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein

family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized

by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins,

this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein

localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this

gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the

literature but is distinct from the myosin IC gene located on chromosome 17. (provided by RefSeq, Jan 2012)

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965

Function: 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

Gene Wiki entry for MYO1E

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYO1E gene promoter:
Bach1 NF-1 NF-1/L AML1a CUTL1 Nkx2-5 LCR-F1 GATA-1 AREB6 NRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYO1E promoter sequence

Search SABiosciences Chromatin IP Primers for MYO1E

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO1E

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21-q22 Ensembl cytogenetic band: 15q22.2 HGNC cytogenetic band: 15q21-q22

MYO1E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO1E gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M059428: view genomic region (about GC identifiers)

Start:	59,427,113 bp from pter	End:	59,665,099 bp from pter
Size:	237,987 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965 (See protein sequence)

Recommended Name: Unconventional myosin-Ie

Size: 1108 amino acids; 127062 Da

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

Interacts with ARL14EP

Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-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

Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1)

Secondary accessions: Q14778

Explore the universe of human proteins at neXtProt for MYO1E: NX_Q12965

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12965

MYO1E Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004989.2

ENSEMBL proteins:

ENSP00000288235 ENSP00000453936 ENSP00000453232 ENSP00000454113 ENSP00000453178

ENSP00000453811

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	Uscn Proteins for MYO1E

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	ISS	--
GO:0005856	cytoskeleton	IDA	17257598
GO:0005911	cell-cell junction	ISS	--
GO:0005912	adherens junction	ISS	--
GO:0015629	actin cytoskeleton	TAS	7932763

MYO1E for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MYO1E

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYO1E for domains About GeneDecksing

4 InterPro domains/families:

IPR010926 Myosin_tail_2

IPR000048 IQ_motif_EF-hand-BS

IPR001452 SH3_domain

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry Q12965

ProtoNet protein and cluster: Q12965

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB001452 SH3 domain signature

IPB010926 Myosin tail 2

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965

Similarity: Contains 1 IQ domain

Similarity: Contains 1 myosin head-like domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965

Function: 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

Genatlas biochemistry entry for MYO1E:

myosin 1E,unconventional,127kDa

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		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO1E (see all 26):
		hsa-miR-3194-5p hsa-miR-181c hsa-miR-485-3p hsa-let-7a-2* hsa-miR-340 hsa-miR-23b* hsa-miR-144 hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: MYO1E 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO1E

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	TAS	7932763
GO:0003774	motor activity	TAS	7932763
GO:0005515	protein binding	IPI	--
GO:0005516	calmodulin binding	IDA	11940582
GO:0005524	ATP binding	IEA	--

MYO1E for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for MYO1E:

Downregulation of NF-kappaB pa

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Myo1e^tm1.1Flv for MYO1E
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Myo1e):

cardiovascular system	hematopoietic system	homeostasis/metabolism	mortality/aging	muscle
no phenotypic analysis	renal/urinary system

MYO1E for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

PAK Pathway

	PAK Pathway	1.00			Epithelial Adherens Junctions	0.36
	Antioxidant Action of Vitamin-C	0.56

Fc-GammaR-Mediated Phagocytosis in Macrophages

Fc-GammaR-Mediated Phagocytosis in Macrophages

1.00

RhoGDI Pathway

0.33

Actin Nucleation by ARP-WASP Complex

Actin Nucleation by ARP-WASP Complex

1.00

RhoA Pathway

0.35

Sweet Taste Signaling

Cellular Effects of Sildenafil

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MYO1E

Clathrin-dependent protein traffic

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO1E (see all 11)

	RhoA Pathway
	Antioxidant Action of Vitamin-C
	Transendothelial Migration of Leukocytes
	Actin Nucleation by ARP-WASP Complex
	Epithelial Adherens Junctions

2 GeneGo (Thomson Reuters) Pathways for MYO1E

	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

MYO1E for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYO1E

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/66 Interacting proteins for MYO1E (Q12965^{1, 2, 3} ENSP00000288235⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DNM2	P50570²^,³, ENSP00000352721⁴	MINT-7102140 MINT-7102290 I2D: score=1 STRING: ENSP00000352721
SYNJ1	O43426²^,³, ENSP00000322234⁴	MINT-7102105 MINT-7102066 I2D: score=1 STRING: ENSP00000322234
CALM1	P62158³	I2D: score=5
CALM2	P62158³	I2D: score=5
CALM3	P62158³	I2D: score=5

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001570	vasculogenesis	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001822	kidney development	--	--
GO:0003094	glomerular filtration	ISS	--
GO:0006807	nitrogen compound metabolic process	--	--

MYO1E for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYO1E
Search CenterWatch for drugs/clinical trials and news about MYO1E

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYO1E gene:

NM_004998.3

Unigene Cluster for MYO1E:

Myosin IE

Hs.654506 [show with all ESTs]

Unigene Representative Sequence: NM_004998

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000288235(uc002aga.3) ENST00000559412 ENST00000559269 ENST00000560749

ENST00000558182 ENST00000560642 ENST00000559489 ENST00000558814 ENST00000558571

ENST00000558646

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		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO1E (see all 26):
		hsa-miR-3194-5p hsa-miR-181c hsa-miR-485-3p hsa-let-7a-2* hsa-miR-340 hsa-miR-23b* hsa-miR-144 hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: MYO1E 3' UTR sequence

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Additional cDNA sequence:

AB290177.1 AK291688.1 BC067835.1 BC098392.1 L29139.1 U14391.1

18 DOTS entries:

DT.453457 DT.99932663 DT.100685092 DT.121060169 DT.91757168 DT.95078703 DT.121060117 DT.75174115

DT.91757166 DT.95288350 DT.91757169 DT.91789270 DT.92034786 DT.92050356 DT.95078705 DT.95078731

DT.95078732 DT.75120537

24/116 AceView cDNA sequences (see all 116):

BM739039 BQ687150 BM739292 CK000936 BM751935 BQ348966 AW500187 BM739988

BX951053 BM760104 BQ688387 BP349244 AI921576 BM738910 BQ932277 BQ056388

BQ897245 BM760167 AW500694 BM739973 AI470074 BP349792 CF135668 AW503941

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MYO1E (see all 12) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19a	·	19b	^	20	^
SP1:
SP2:
SP3:
SP4:																															-
SP5:																															-

ExUns:	21	^	22	^	23	^	24a	·	24b	^	25	^	26a	·	26b	·	26c	^	27a	·	27b	^	28	^	29	^	30a	·	30b	^	31	^	32
SP1:
SP2:			-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MYO1E

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYO1E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATGAATGTA

About this image

MYO1E expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Podocyte Layer

Podocytes

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Nkx2-1 GFP+ cells (Efficient derivation...)

See MYO1E Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYO1E

SOURCE GeneReport for Unigene cluster: Hs.654506

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965

Tissue specificity: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including

podocytes

SABiosciences Custom PCR Arrays for MYO1E

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MYO1E gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYO1E¹	myosin IE	79.98(n) 91.24(a)		415398 XM_413782.3 XP_413782.3
lizard (Anolis carolinensis)	Reptilia	MYO1E⁶	--	89(a)	1 ↔ 1	GL343573.1(145427-164485)
African clawed frog (Xenopus laevis)	Amphibia	myo1e-prov²	myosin I e	75.51(n)		BC046842.1
zebrafish (Danio rerio)	Actinopterygii	BC057426.1²	--	74.92(n)		393609 BC057426.1
honey bee (Apis mellifera)	Insecta	--	--	67(a)	1 → many	GroupUn.724(648-6229)
worm (Caenorhabditis elegans)	Secernentea	hum-1^{1 , 3}	myosin³ Protein HUM-1¹	61(a) (best of 2)³ 57.59(n)¹ 58.24(a)¹		I(8854081-8859154)³ 172698¹ NM_059992.2¹ NP_492393.1¹

ENSEMBL Gene Tree for MYO1E (if available)
TreeFam Gene Tree for MYO1E (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYO1E gene

MYO1F² MYO1G² MYO1B² MYO1D² MYO1H² MYO1A² MYO1C² MYO19²

18/35 SIMAP similar genes for MYO1E using alignment to 7 protein entries: MYO1E_HUMAN (see all proteins) (see all similar genes):

FLJ00395 MYO1F variant protein MYO1F MYH9 MYH14 MYO1B

MYO1C MYO5B MYO1H MYO5C DKFZp686A01173 MYO19

MYO3B MYH7B MYO18A MYO1D SH3GL2 MYO10

MYO1E for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MYO1E
PGOHUM00000262062

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7168481^1,2	C,F,A,H,	--	36249919(+)	`CCACTA/GGTGTC`	1	--	ds500¹		4		EA NS WA	286
rs114351389^1,2	C,F,	--	36250354(+)	`CTGCCG/ATNNNN`	1	--	ds500¹		2		WA NA	238
rs7175697^1,2	C,F,H,	--	36250601(+)	`ttataT/Ctggat`	1	--	ut3¹		15		NS EA NA CSA WA	1872
rs16941061^1,2	F	--	36250888(-)	`AACTAA/CGGAGT`	1	--	ut3¹ ese³		1		MN	184
rs13498^1,2	C,	--	36251023(+)	`NNNNTA/GTACAG`	1	--	ut3¹ ese³		4		MN CSA WA	305
rs3803446^1,2	H	--	36251194(-)	`GGGCCG/TCCAAG`	1	--	ut3¹ ese³		4		NS EA	416
rs3191402^1,2	C,F,A,H,	--	36251369(-)	`TTGTCC/TATACC`	1	--	ut3¹ ese³		22		MN NS EA NA	2514
rs8041633^1,2	C,F,	--	36251680(+)	`AGGCCT/GTGGAG`	1	--	ut3¹ ese³		3		CSA WA	126
rs12592989^1,2	C,H	--	36252759(+)	`ACTGGC/TTGTTT`	2	T A	mis¹		0	--	--	--	--
rs76060436^1,2	F,	--	36253114(+)	`CTCCTT/GCCTCA`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for MYO1E (59427113 - 59665099 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MYO1E
1 CNV: 4903
1 Indel: 60179
Human Gene Mutation Database (HGMD): MYO1E

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MYO1E for disorders About GeneDecksing

OMIM gene information: 601479 OMIM disorders: --

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965

Defects in MYO1E are the cause of focal segmental glomerulosclerosis type 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

9 diseases for MYO1E: About MalaCards

focal segmental glomerulosclerosis glomerulosclerosis steroid-resistant nephrotic syndrome nephrotic syndrome

intrahepatic cholangiocarcinoma gigantism hyperlipidemia cholangiocarcinoma

neuronitis

Human Genome Epidemiology (HuGE) Navigator: MYO1E (1 document)

Export disorders for MYO1E gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MYO1E gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with MYO1E)

Utopia: connect your pdf to the dynamic
world of online information

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. (PubMed id 21697813)^{1, 2} Sanna-Cherchi S.... Gharavi A.G. (2011)
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. (PubMed id 21756023)^{1, 2} Mele C.... Noris M. (2011)
Myo1e binds anionic phospholipids with high affinity. (PubMed id 20860408)^{1, 2} Feeser E.A....Ostap E.M. (2010)
Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. (PubMed id 17257598)^{1, 2} Krendel M....Mooseker M.S. (2007)
The kinetic mechanism of Myo1e (human myosin-IC). (PubMed id 11940582)^{1, 2} El Mezgueldi M....Ostap E.M. (2002)
Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)^{1, 3} Hasson T.... Jenkins N.A. (1996)
Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PubMed id 8022818)^{1, 2} Bement W.M....Mooseker M.S. (1994)
Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain. (PubMed id 7932763)^{1, 2} Bement W.M.... Mooseker M.S. (1994)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Novel Loci for metabolic networks and multi-tissue exp ression studies reveal genes for atherosclerosis. (PubMed id 22916037)¹ Inouye M....de Bakker P.I. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4643	HGNC: 7599	AceView: MYO1E	Ensembl:ENSG00000157483	euGenes: HUgn4643
ECgene: MYO1E	H-InvDB: MYO1E

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYO1E	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYO1E gene
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Patent Information for MYO1E gene:
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GeneCards and IP:
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