Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4643
Gene name	Myosin IE
Gene symbol	MYO1E
Synonyms (NCBI Gene)	FSGS6HuncM-ICMYO1C
Chromosome	15
Chromosome location	15q22.2
Summary	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)

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906807	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs778868018	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1555411458	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596351849	A>G	Likely-pathogenic	Coding sequence variant, missense variant

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001531	hsa-miR-155-5p	pSILAC	18668040
MIRT001531	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT023408	hsa-miR-30b-5p	Sequencing	20371350
MIRT028066	hsa-miR-93-5p	Sequencing	20371350
MIRT032300	hsa-let-7b-5p	Proteomics	18668040
MIRT1169496	hsa-miR-1253	CLIP-seq
MIRT1169497	hsa-miR-1291	CLIP-seq
MIRT1169498	hsa-miR-192	CLIP-seq
MIRT1169499	hsa-miR-215	CLIP-seq
MIRT1169500	hsa-miR-219-1-3p	CLIP-seq
MIRT1169501	hsa-miR-3117-5p	CLIP-seq
MIRT1169502	hsa-miR-3148	CLIP-seq
MIRT1169503	hsa-miR-3153	CLIP-seq
MIRT1169504	hsa-miR-361-3p	CLIP-seq
MIRT1169505	hsa-miR-3661	CLIP-seq
MIRT1169506	hsa-miR-3667-5p	CLIP-seq
MIRT1169507	hsa-miR-3943	CLIP-seq
MIRT1169508	hsa-miR-3978	CLIP-seq
MIRT1169509	hsa-miR-4259	CLIP-seq
MIRT1169510	hsa-miR-4467	CLIP-seq
MIRT1169511	hsa-miR-4519	CLIP-seq
MIRT1169512	hsa-miR-4530	CLIP-seq
MIRT1169513	hsa-miR-4690-3p	CLIP-seq
MIRT1169514	hsa-miR-4691-3p	CLIP-seq
MIRT1169515	hsa-miR-4703-3p	CLIP-seq
MIRT1169516	hsa-miR-4709-3p	CLIP-seq
MIRT1169517	hsa-miR-4715-5p	CLIP-seq
MIRT1169518	hsa-miR-4730	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT1169520	hsa-miR-4735-5p	CLIP-seq
MIRT1169521	hsa-miR-576-5p	CLIP-seq
MIRT1169522	hsa-miR-580	CLIP-seq
MIRT1169523	hsa-miR-631	CLIP-seq
MIRT2048852	hsa-miR-101	CLIP-seq
MIRT1169497	hsa-miR-1291	CLIP-seq
MIRT2048853	hsa-miR-144	CLIP-seq
MIRT2048854	hsa-miR-3120-3p	CLIP-seq
MIRT1169504	hsa-miR-361-3p	CLIP-seq
MIRT1169505	hsa-miR-3661	CLIP-seq
MIRT1169507	hsa-miR-3943	CLIP-seq
MIRT2048855	hsa-miR-4281	CLIP-seq
MIRT2048856	hsa-miR-4310	CLIP-seq
MIRT2048857	hsa-miR-4449	CLIP-seq
MIRT1169510	hsa-miR-4467	CLIP-seq
MIRT1169512	hsa-miR-4530	CLIP-seq
MIRT1169513	hsa-miR-4690-3p	CLIP-seq
MIRT1169518	hsa-miR-4730	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT1169523	hsa-miR-631	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2277728	hsa-miR-1254	CLIP-seq
MIRT2277729	hsa-miR-1913	CLIP-seq
MIRT2277730	hsa-miR-3116	CLIP-seq
MIRT2048854	hsa-miR-3120-3p	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2277732	hsa-miR-3189-5p	CLIP-seq
MIRT2277733	hsa-miR-324-3p	CLIP-seq
MIRT2277734	hsa-miR-4254	CLIP-seq
MIRT2277735	hsa-miR-4268	CLIP-seq
MIRT2048856	hsa-miR-4310	CLIP-seq
MIRT2277736	hsa-miR-4633-3p	CLIP-seq
MIRT2277737	hsa-miR-4758-3p	CLIP-seq
MIRT2576452	hsa-miR-1	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2576453	hsa-miR-1252	CLIP-seq
MIRT2576454	hsa-miR-125a-5p	CLIP-seq
MIRT2576455	hsa-miR-125b	CLIP-seq
MIRT2576456	hsa-miR-206	CLIP-seq
MIRT2576457	hsa-miR-2467-3p	CLIP-seq
MIRT2576458	hsa-miR-3125	CLIP-seq
MIRT2576459	hsa-miR-3141	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2576460	hsa-miR-3621	CLIP-seq
MIRT2576461	hsa-miR-3678-3p	CLIP-seq
MIRT2576462	hsa-miR-3916	CLIP-seq
MIRT2576463	hsa-miR-4319	CLIP-seq
MIRT2576464	hsa-miR-4476	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT2576465	hsa-miR-613	CLIP-seq
MIRT2576466	hsa-miR-622	CLIP-seq
MIRT2576467	hsa-miR-670	CLIP-seq
MIRT2576452	hsa-miR-1	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2576453	hsa-miR-1252	CLIP-seq
MIRT2576454	hsa-miR-125a-5p	CLIP-seq
MIRT2576455	hsa-miR-125b	CLIP-seq
MIRT2576456	hsa-miR-206	CLIP-seq
MIRT2576457	hsa-miR-2467-3p	CLIP-seq
MIRT2576458	hsa-miR-3125	CLIP-seq
MIRT2576459	hsa-miR-3141	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2576460	hsa-miR-3621	CLIP-seq
MIRT2576461	hsa-miR-3678-3p	CLIP-seq
MIRT2576462	hsa-miR-3916	CLIP-seq
MIRT2576463	hsa-miR-4319	CLIP-seq
MIRT2576464	hsa-miR-4476	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT2576465	hsa-miR-613	CLIP-seq
MIRT2576466	hsa-miR-622	CLIP-seq
MIRT2576467	hsa-miR-670	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003094	Process	Glomerular filtration	IEA
GO:0003094	Process	Glomerular filtration	ISS
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17257598, 19846667, 21458045
GO:0005516	Function	Calmodulin binding	IDA	11940582
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IDA	17257598
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005902	Component	Microvillus	IBA
GO:0005903	Component	Brush border	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IMP	17257598
GO:0007015	Process	Actin filament organization	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	11940582
GO:0016887	Function	ATP hydrolysis activity	IDA	11940582
GO:0030097	Process	Hemopoiesis	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032835	Process	Glomerulus development	IBA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0035091	Function	Phosphatidylinositol binding	IDA	20860408
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	IDA	17257598
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	11940582
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0072015	Process	Podocyte development	IEA
GO:0072015	Process	Podocyte development	ISS

MIM	HGNC	e!Ensembl
601479	7599	ENSG00000157483

Q12965

Protein name

Unconventional myosin-Ie (Myosin-Ic) (Unconventional myosin 1E)

Protein function

Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin fil

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00063	Myosin_head	21 → 679	Myosin head (motor domain)	Domain
PF06017	Myosin_TH1	719 → 920	Unconventional myosin tail, actin- and lipid-binding	Domain
PF00018	SH3_1	1057 → 1102	SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes. {ECO:0000269|PubMed:21458045, ECO:0000269|PubMed:21756023}.

Sequence

MGSKGVYQYHWQSHNVKHSGVDDMVLLSKITENSIVENLKKRYMDDYIFTYIGSVLISVN
PFKQMPYFGEKEIEMYQGAAQYENPPHIYALADNMYRNMIIDRENQCVIISGESGAGKTV
AAKYIMSYISRVSGGGTKVQHVKDIILQSNPLLEAFGNAKTVRNNNSSRFGKYFEIQFSP
GGEPDGGKISNFLLEKSRVVMRNPGERSFHIFYQLIEGASAEQKHSLGITSMDYYYYLSL
SGSYKVDDIDDRREFQETLHAMNVIGIFAEEQTLVLQIVAGILHLGNISFKEVGNYAAVE
SEEFLAFPAYLLGINQDRLKEKLTSRQMDSKWGGKSESIHVTLNVEQACYTRDALAKALH
ARVFDFLVDSINKAMEKDHEEYNIGVLDIYGFEIFQKNGFEQFCINFVNEKLQQIFIELT
LKAEQEEYVQEGIRWTPIEYFNNKIVCDLIENKVNPPGIMSILDDVCATMHAVGEGADQT
LLQKLQMQIGSHEHFNSWNQGFIIHHYAGKVSYDMDGFCERNRDVLFMDLIELMQSSELP
FIKSLFPENLQADKKGRPTTAGSKIKKQANDLVSTLMKCTPHYIRCIKPNETKKPRDWEE
SRVKHQVEYLGLKENIRVRRAGYAYRRIFQKFLQRYAILTKATWPSWQGEEKQGVLHLLQ
SVNMDSDQFQLGRSKVFIKAPESLFLLEEMRERKYDGYARVIQKSWRKFVARKKYVQMRE
EASDLLLNKKERRRNSINRNFIGDYIGMEEHPELQQFVGKREKIDFADTVTKYDRRFKGV
KRDLLLTPKCLYLIGREKVKQGPDKGLVKEVLKRKIEIERILSVSLSTMQDDIFILHEQE
YDSLLESVFKTEFLSLLAKRYEEKTQKQLPLKFSNTLELKLKKENWGPWSAGGSRQVQFH
QGFGDLAVLKPSNKVLQVSIGPGLPKNSRPTRRNTTQNTGYSSGTQNANYPVRAAPPPPG
YHQNGVIRNQYVPYPHAPGSQRSNQKSLYTSMARPPLPRQQSTSSDRVSQTPESLDFLKV
PDQGAAGVRRQTTSRPPPAGGRPKPQPKPKPQVPQCKALYAYDAQDTDELSFNANDIIDI
IKEDPSGWWTGRLRGKQGLFPNNYVTKI

Sequence length

1108

Interactions

View interactions

	KEGG
	Motor proteins Pathogenic Escherichia coli infection

236

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal segmental glomerulosclerosis 6	Pathogenic; Likely pathogenic	rs1427276872, rs2542174867, rs387906807, rs778868018, rs1596351849, rs2079495070	RCV001535898 RCV003989827 RCV000023110 RCV000023111 RCV000995815 RCV001281188
Nephrotic syndrome	Likely pathogenic	rs2140342702, rs2140319931, rs2079386835, rs781347673	RCV001849753 RCV001849758 RCV001328212 RCV001328211
Uterine corpus endometrial carcinoma	Likely pathogenic	rs200956105	RCV005935073

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs192317472	RCV005911301
Adrenocortical carcinoma, hereditary	Uncertain significance	rs766780148	RCV005932235
Cervical cancer	Likely benign; Benign	rs142116200, rs192317472, rs75032416	RCV005912781 RCV005911303 RCV005919282
Cholangiocarcinoma	Benign	rs11858347, rs1486877, rs2414623, rs4287498	RCV005909335 RCV005915646 RCV005921705 RCV005920495
Clear cell carcinoma of kidney	Benign; Likely benign; Uncertain significance	rs192317472, rs145140174, rs141565214	RCV005911304 RCV005926619 RCV005898697
Colon adenocarcinoma	Benign; Likely benign	rs371013910, rs200881397	RCV005869964 RCV005870829
Corticosteroids response	drug response	rs2140382260, rs2140330159, rs2140352466, rs2080293604, rs2140311711, rs1471326207, rs1300127405, rs766032411, rs767828946, rs2079547372, rs758689659	RCV002271962 RCV002271967 RCV002271968 RCV002271969 RCV002271970 RCV002271974 RCV001254654 RCV001254655 RCV001254656 RCV001261426 RCV001261427
Familial cancer of breast	Uncertain significance; Benign; Likely benign	rs375751619, rs11858347, rs141565214	RCV005911134 RCV005909330 RCV005898696
Gastric cancer	Benign	rs1486877, rs4287498, rs371013910	RCV005915644 RCV005920494 RCV005869965
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs117265950, rs3751538, rs147223727, rs140447165, rs144637775, rs73422973	RCV002294466 RCV002294477 RCV002294729 RCV002294336 RCV002294405 RCV002294407
Lung cancer	Uncertain significance	rs569391805	RCV005932582
Malignant lymphoma, large B-cell, diffuse	Benign	rs11858347, rs4287498	RCV005909332 RCV005920493
Malignant tumor of esophagus	Benign; Likely benign	rs192317472, rs200881397	RCV005911302 RCV005870830
Melanoma	Uncertain significance	rs188951245	RCV005925510
Microscopic hematuria	Conflicting classifications of pathogenicity	rs140447165	RCV002284199
MYO1E-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs753956205, rs142105673, rs150983259, rs200066836, rs117371632, rs758157067, rs561678142, rs536266133, rs149553440, rs200987052, rs377513196, rs150716172, rs779206722, rs775921322, rs748090595 View all (15 more)	RCV003898326 RCV004756231 RCV003938802 RCV003938894 RCV003931044 RCV003395340 RCV003893307 RCV003926309 RCV003895912 RCV003970927 RCV003963684 RCV003921375 RCV003896465 RCV003899833 RCV003911914 RCV003912275 RCV003967325 RCV003943928 RCV003941709 RCV003946991 RCV003956758 RCV003967178 RCV003972120 RCV003928229 RCV003895493 RCV003912940 RCV003933005 RCV003928642 RCV003906179 RCV003973193
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs200881397	RCV005870831
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs192317472, rs76174097	RCV005911306 RCV005919307
Sarcoma	Benign; Likely benign	rs192317472, rs73424967	RCV005911305 RCV005911412
Schizophrenia	Uncertain significance	rs2541976105	RCV002463520
Thymoma	Benign	rs11858347	RCV005909334
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs141565214	RCV005898698
Uterine carcinosarcoma	Benign	rs11858347, rs1486877	RCV005909333 RCV005915645
Uveal melanoma	Benign	rs11858347	RCV005909331

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36914720, 39267056
Autistic Disorder	Associate	27562213
Carcinoma Hepatocellular	Associate	22065898
Drug Related Side Effects and Adverse Reactions	Associate	26744305
Glomerulosclerosis Focal Segmental	Associate	25739341, 26092123, 36705362
Kidney Diseases	Associate	25739341, 26092123
Kidney Failure Chronic	Associate	25739341
Lung Neoplasms	Associate	36914720
Nephritis Hereditary	Associate	25739341
Nephrotic Syndrome	Associate	21697813, 25739341, 28921387, 35920919
Neural Tube Defects	Associate	30415495
Pulmonary Disease Chronic Obstructive	Associate	26744305
Scleroderma Diffuse	Associate	24812288

MYO1E (myosin IE)