1. Gene
  2. PPFIBP1 - PPFIA binding protein 1 Gene

PPFIBP1 - PPFIA binding protein 1 Gene

中文名称:PPFIA 结合蛋白 1

种属: Homo sapiens

同用名: L2; SGT2; hSGT2; hSgt2p; NEDSMBA

基因 ID: 8496 | 基因类型: protein coding

关于 PPFIBP1

Cytogenetic location: 12p11.23-p11.22 Genomic coordinates (GRCh38): 12:27,524,206-27,695,564 (from NCBI)

This gene has 18 transcripts (splice variants), 284 orthologues, 5 paralogues and is associated with 81 phenotypes. Ubiquitous expression in ovary (RPKM 22.3), heart (RPKM 16.3) and 24 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。已经提出,脂蛋白是形成复杂结构的多价蛋白质,并充当用于募集和锚定 LAR 酪氨酸磷酸酶家族的支架。发现该蛋白质与 S100A4 相互作用,S100A4 是一种与肿瘤侵袭和转移相关的钙结合蛋白。体外实验表明,这种相互作用抑制了蛋白激酶 C 和蛋白激酶 CK2 对该蛋白的磷酸化。已经报道了编码不同亚型的可变剪接转录物变体。[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. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PPFIBP1 基因产物(4)

mRNA Protein Name
NM_001198915.2 NP_001185844.1 liprin-beta-1 isoform 3
NM_001198916.2 NP_001185845.2 liprin-beta-1 isoform 4
NM_003622.4 NP_003613.4 liprin-beta-1 isoform 1
NM_177444.3 NP_803193.3 liprin-beta-1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
15161933 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cortical microtubule organization IMP
IMP: 通过突变表型推断
24120883 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell cortex IDA
IDA: 通过直接分析推断
24120883 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

PPFIBP1 蛋白结构

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (646 - 708)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (720 - 780)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (807 - 873)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1011 a.a.
蛋白主名 其他名称

liprin-beta-1

PTPRF interacting protein, binding protein 1 (liprin beta 1)

PPFIBP1 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
PPFIBP1 Q86W92 YWHAZ Homo sapiens P63104
Pull Down
15161933
种属内
PPFIBP1 Q86W92 PBX2 Homo sapiens P40425
Y2H Prey Pooling
32296183
种属内
PPFIBP1 Q86W92 PBX2 Homo sapiens P40425
Y2H Array
32296183
种属内
PPFIBP1 Q86W92 YWHAE Homo sapiens P62258
Crosslink
36931259
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
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities

NEDSMBA

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Malignant Giant Cell Tumor Of Soft Parts

Malignant Giant Cell Neoplasm Of Soft Parts

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

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 PPFIBP1 VGNC VGNC:97807
Canis familiaris PPFIBP1 VGNC VGNC:44847
Felis catus PPFIBP1 VGNC VGNC:68985
Mus musculus PPFIBP1 MGD MGI:1914783
Rattus norvegicus PPFIBP1 RGD RGD:1310010
Bos taurus PPFIBP1 VGNC VGNC:33193