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  3. PITPNM3 - PITPNM family member 3 Gene

PITPNM3 - PITPNM family member 3 Gene

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

中文名称：PITPNM 家族成员 3

种属: Homo sapiens

同用名: NIR1; ACKR6; CORD5; RDGBA3

基因 ID: 83394 | 基因类型: protein coding

关于 PITPNM3

Cytogenetic location: 17p13.2-p13.1 Genomic coordinates (GRCh38): 17:6,451,263-6,556,555 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues.

功能概要

该基因编码膜相关磷脂酰肌醇转移结构域蛋白家族的成员。钙结合蛋白具有磷脂酰肌醇 (PI) 转移活性，并与蛋白酪氨酸激酶 PTK2B (也称为 Pyk2) 相互作用。该蛋白与果蝇蛋白同源，后者与果蝇的视觉转导通路有关。该基因的突变导致常染色体显性锥体营养不良。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as Pyk2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

PITPNM3 基因产物(2)

mRNA Protein Name
NM_001165966.2 NP_001159438.1 membrane-associated phosphatidylinositol transfer protein 3 isoform 2
NM_031220.4 NP_112497.2 membrane-associated phosphatidylinositol transfer protein 3 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
10022914 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10022914 GOA
enables receptor tyrosine kinase binding IMP
IMP: 通过突变表型推断
10022914 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

PITPNM3 蛋白结构

DDHD

DDHD: DDHD domain (390 - 594)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (739 - 869)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 974 a.a.
蛋白主名 其他名称

membrane-associated phosphatidylinositol transfer protein 3

NIR-1

PITPNM3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PITPNM3 Q9BZ71 CCL18 Homo sapiens P55774
Anti Bait CoIP
21481794
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cone-Rod Dystrophy 5

CORD5

Dystrophy, Cone-Rod, Type 5
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation

Intracranial Arteriovenous Malformation

Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

Intracranial Arteriovenous Malformations

Bavm

Cerebral Arteriovenous Malformations

Intracranial Hemorrhage In Brain Cerebrovascular Malformations

Arteriovenous Malformation Of The Brain, Somatic

Intracranial Avm

Arteriovenous Malformations Cerebral
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Retinal Degeneration

Degeneration Of Retina
Cone-Rod Dystrophy 17

CORD17
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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-RS10579 PITPNM3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PITPNM3 MGD MGI:2685726
Felis catus PITPNM3 VGNC VGNC:64189
Canis familiaris PITPNM3 VGNC VGNC:53433
Rattus norvegicus PITPNM3 RGD RGD:1308200
Macaca mulatta PITPNM3 VGNC VGNC:75842
Bos taurus PITPNM3 VGNC VGNC:52807
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