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  2. WIPI1 - WD repeat domain, phosphoinositide interacting 1 Gene

WIPI1 - WD repeat domain, phosphoinositide interacting 1 Gene

中文名称:WD 重复结构域,磷酸肌醇相互作用 1

种属: Homo sapiens

同用名: ATG18; ATG18A; WIPI49

基因 ID: 55062 | 基因类型: protein coding

关于 WIPI1

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:68,421,281-68,457,496 (from NCBI)

This gene has 11 transcripts (splice variants), 256 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 11.9), heart (RPKM 11.3) and 25 other tissues.

功能概要

该基因编码 WD40 重复蛋白。 WD40 重复家族的成员是许多基本生物学功能的关键组成部分。他们通过提供用于同步和可逆蛋白质-蛋白质相互作用的 β-螺旋桨平台来调节多蛋白复合物的组装。 WD40 重复蛋白的 WIPI 亚家族成员具有 7 叶螺旋桨结构,并包含一个与磷脂相互作用的保守基序。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 3 月]

This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with Phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

WIPI1 基因产物(2)

mRNA Protein Name
NM_001320772.2 NP_001307701.1 WD repeat domain phosphoinositide-interacting protein 1 isoform b
NM_017983.7 NP_060453.3 WD repeat domain phosphoinositide-interacting protein 1 isoform a

WIPI1 蛋白结构

WD40

WD40: WD domain, G-beta repeat (179 - 210)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 446 a.a.
蛋白主名 其他名称

WD repeat domain phosphoinositide-interacting protein 1

WIPI-1 alpha

WIPI1 抗体

目录号 产品名 应用 反应物种
HY-P81976 WIPI1 Antibody (YA1721) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus WIPI1 VGNC VGNC:36942
Mus musculus WIPI1 MGD MGI:1261864
Felis catus WIPI1 VGNC VGNC:67074
Rattus norvegicus WIPI1 RGD RGD:1307754
Macaca mulatta WIPI1 VGNC VGNC:79497
Canis familiaris WIPI1 VGNC VGNC:48412