2. Gene
  3. MYO1E - myosin IE Gene

MYO1E - myosin IE Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌球蛋白 IE

种属: Homo sapiens

同用名: FSGS6; MYO1C; HuncM-IC

基因 ID: 4643 | 基因类型: protein coding

关于 MYO1E

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:59,132,434-59,372,871 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 43 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 17.7), gall bladder (RPKM 16.8) and 24 other tissues.

功能概要

该基因编码非肌肉 I 类肌球蛋白的一个成员，该肌球蛋白是非常规肌球蛋白家族的一个亚组。非常规的肌球蛋白起着基于肌动蛋白的分子马达的作用。 I 类肌球蛋白的特征在于头部 (运动) 结构域、调节结构域和短尾结构域或长尾结构域。在 I 类肌球蛋白中，这种蛋白质以参与交联肌动蛋白丝的长尾结构域为特征。这种蛋白质定位于细胞质，可能参与细胞内运动和膜运输。该基因的突变是局灶性节段性肾小球硬化症 6 的原因。该基因在文献中被称为肌球蛋白 IC，但与位于 17 号染色体上的肌球蛋白 IC 基因不同。[RefSeq 提供，2012 年 1 月]

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]

MYO1E 基因产物(1)

mRNA Protein Name
NM_004998.4 NP_004989.2 unconventional myosin-Ie

MYO1E 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (21 - 679)

Myosin_TH1

Myosin_TH1: Unconventional myosin tail, actin- and lipid-binding (718 - 923)

SH3_1

SH3_1: SH3 domain (1057 - 1101)

  • 0
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  • 1108 a.a.
蛋白主名 其他名称

unconventional myosin-Ie

MYO1E variant protein

关联疾病

疾病名称 别名
Focal Segmental Glomerulosclerosis 6

FSGS6

Glomerulosclerosis, Focal Segmental, 6

Glomerulosclerosis, Segmental, Focal, Type 6
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5
Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1
Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly
Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary
Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant

Alport Syndrome Dominant Type

Renal Failure And Sensorineural Hearing Loss

Alport Syndrome, Dominant Type
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08941 MYO1E Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MYO1E MGD MGI:106621
Bos taurus MYO1E VGNC VGNC:31820
Rattus norvegicus MYO1E RGD RGD:3144
Felis catus MYO1E VGNC VGNC:68392
Canis familiaris MYO1E VGNC VGNC:43564
Macaca mulatta MYO1E VGNC VGNC:75114
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