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  2. PPFIA3 - PTPRF interacting protein alpha 3 Gene

PPFIA3 - PTPRF interacting protein alpha 3 Gene

中文名称:PTPRF 相互作用蛋白 alpha 3

种属: Homo sapiens

同用名: LPNA3

基因 ID: 8541 | 基因类型: protein coding

关于 PPFIA3

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,119,544-49,151,026 (from NCBI)

This gene has 13 transcripts (splice variants), 283 orthologues and 5 paralogues. Biased expression in brain (RPKM 10.8), skin (RPKM 6.5) and 10 other tissues.

功能概要

该基因编码的蛋白质是 LAR 蛋白-酪氨酸磷酸酶相互作用蛋白 (liprin) 家族的成员。脂蛋白与跨膜蛋白酪氨酸磷酸酶 LAR 家族的成员相互作用,已知后者对轴突导向和乳腺发育很重要。 Liprin 家族蛋白已被证明可将磷酸酶 LAR 定位于细胞粘着斑,并可能参与突触前活动区的分子组织。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane Protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize Phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

PPFIA3 基因产物(1)

mRNA Protein Name
NM_003660.4 NP_003651.1 liprin-alpha-3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12923177 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in acrosomal vesicle IDA
IDA: 通过直接分析推断
23124857 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

PPFIA3 蛋白结构

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (838 - 900)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (954 - 1015)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1040 - 1107)

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  • 1194 a.a.
蛋白主名 其他名称

liprin-alpha-3

liprin

PPFIA3 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
PPFIA3 O75145 PPP1R13B Homo sapiens Q96KQ4 32296183
种属内
PPFIA3 O75145 PPP1R13B Homo sapiens Q96KQ4 32296183
种属内
PPFIA3 O75145 PPP1R13B Homo sapiens Q96KQ4 32296183
种属内
PPFIA3 O75145 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
PPFIA3 O75145 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
PPFIA3 O75145 TFIP11 Homo sapiens Q9UBB9 32296183
种属内
PPFIA3 O75145 CBY2 Homo sapiens Q8NA61-2 32296183
种属内
PPFIA3 O75145 CBY2 Homo sapiens Q8NA61-2 32296183
种属内
PPFIA3 O75145 DISC1 Homo sapiens Q9NRI5-2 32296183
种属内
PPFIA3 O75145 DISC1 Homo sapiens Q9NRI5-2 32296183
种属内
PPFIA3 O75145 DISC1 Homo sapiens Q9NRI5-2 32296183
种属内
PPFIA3 O75145 SORBS3 Homo sapiens O60504 32296183
种属内
PPFIA3 O75145 SORBS3 Homo sapiens O60504 32296183
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
Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia

Micpch

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Macaca mulatta PPFIA3 VGNC VGNC:76236
Canis familiaris PPFIA3 VGNC VGNC:44845
Bos taurus PPFIA3 VGNC VGNC:33191
Rattus norvegicus PPFIA3 RGD RGD:620054
Mus musculus PPFIA3 MGD MGI:1924037
Felis catus PPFIA3 VGNC VGNC:68983