2. Gene
  3. PHIP - pleckstrin homology domain interacting protein Gene

PHIP - pleckstrin homology domain interacting protein Gene

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

中文名称：pleckstrin 同源结构域相互作用蛋白

种属: Homo sapiens

同用名: ndrp; BRWD2; DIDOD; WDR11; DCAF14; CHUJANS

基因 ID: 55023 | 基因类型: protein coding

关于 PHIP

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:78,934,419-79,078,254 (from NCBI)

This gene has 15 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.2), endometrium (RPKM 7.1) and 25 other tissues.

功能概要

该基因编码一种与胰岛素受体底物 1 蛋白结合并调节骨骼肌细胞中葡萄糖转运蛋白易位的蛋白质。编码的蛋白质还可以调节胰腺 β 细胞的生长和存活。该基因拷贝数升高可能与黑色素瘤的严重程度相关，编码的蛋白质可能促进人类患者的黑色素瘤转移。[RefSeq 提供，2016 年 10 月]

This gene encodes a protein that binds to the Insulin Receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

PHIP 基因产物(1)

mRNA Protein Name
NM_017934.7 NP_060404.4 PH-interacting protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables lysine-acetylated histone binding IDA
IDA: 通过直接分析推断
22464331 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11018022 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
21834987 GOA
acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway IDA
IDA: 通过直接分析推断
17636024 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17636024 GOA
involved in regulation of cell morphogenesis IMP
IMP: 通过突变表型推断
21834987 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25593309 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PHIP 蛋白结构

WD40

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

WD40

WD40: WD domain, G-beta repeat (216 - 252)

WD40

WD40: WD domain, G-beta repeat (259 - 298)

WD40

WD40: WD domain, G-beta repeat (357 - 392)

WD40

WD40: WD domain, G-beta repeat (456 - 495)

Bromodomain

Bromodomain: Bromodomain (1166 - 1250)

Bromodomain

Bromodomain: Bromodomain (1325 - 1406)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1821 a.a.
蛋白主名 其他名称

PH-interacting protein

DDB1 and CUL4 associated factor 14

关联疾病

疾病名称 别名
Chung-Jansen Syndrome

CHUJANS

Developmental Delay, Intellectual Disability, Obesity, And Dysmorphism

Didod

Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome

Chung-Jansen Syndrome
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Syndromic Intellectual Disability
Schuurs-Hoeijmakers Syndrome

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17
Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type

Jansen'S Metaphyseal Chondrodysplasia

MCDJ

Murk Jansen Type Metaphyseal Chondrodysplasia

Jansen Type Metaphyseal Chondrodysplasia

Jansen Disease

Jansen Metaphyseal Chondrodysplasia

Jansen Metaphyseal Dysostosis

Metaphyseal Chondrodysplasia Murk Jansen Type

Chondrodysplasia, Metaphyseal, Murk Jansen Type
Phimosis

Tight Foreskin

Tight Frenulum

Congenital Phimosis
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
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

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-118716 PhIP 99.93% Phase 1
Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-118716S PhIP-d3 / 否
HY-RS10436 PHIP Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS21408 Phip Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS27927 Phip Rat Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PHIP RGD RGD:1564964
Canis familiaris PHIP VGNC VGNC:44495
Macaca mulatta PHIP VGNC VGNC:75803
Mus musculus PHIP MGD MGI:1932404
Bos taurus PHIP VGNC VGNC:32829
Felis catus PHIP VGNC VGNC:64148
Others PHIP NCBI
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