1. Gene
  2. PPFIA4 - PTPRF interacting protein alpha 4 Gene

PPFIA4 - PTPRF interacting protein alpha 4 Gene

中文名称:PTPRF 相互作用蛋白 alpha 4

种属: Homo sapiens

基因 ID: 8497 | 基因类型: protein coding

关于 PPFIA4

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:203,026,491-203,078,736 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues and 5 paralogues. Biased expression in brain (RPKM 8.9), heart (RPKM 8.4) and 10 other tissues.

功能概要

PPFIA4 或 liprin-alpha-4 属于 liprin-alpha 基因家族。参见 liprin-alpha-1 (LIP1 或 PPFIA1;MIM 611054) 了解 liprins 的背景。[OMIM 提供,2008 年 3 月]

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

PPFIA4 基因产物(10)

mRNA Protein Name
NM_001304331.2 NP_001291260.1 liprin-alpha-4 isoform 1
NM_001304332.2 NP_001291261.1 liprin-alpha-4 isoform 2
NM_001393950.1 NP_001380879.1 liprin-alpha-4 isoform 3
NM_001393951.1 NP_001380880.1 liprin-alpha-4 isoform 4
NM_001393952.1 NP_001380881.1 liprin-alpha-4 isoform 5
NM_001393953.1 NP_001380882.1 liprin-alpha-4 isoform 6
NM_001393954.1 NP_001380883.1 liprin-alpha-4 isoform 7
NM_001393955.1 NP_001380884.1 liprin-alpha-4 isoform 8
NM_001393956.1 NP_001380885.1 liprin-alpha-4 isoform 9
NM_001393957.1 NP_001380886.1 liprin-alpha-4 isoform 10
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 protein binding IPI
IPI: 通过物理相互作用推断
12923177 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

PPFIA4 蛋白结构

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (828 - 891)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (944 - 1006)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1029 - 1098)

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  • 1185 a.a.
蛋白主名 其他名称

liprin-alpha-4

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

关联疾病

疾病名称 别名
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Cloves Syndrome

Clove Syndrome

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities

Clove Syndrome, Somatic

Nevus

Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome

CLOVE

Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities

Congenital Arteriovenous Malformation

Arteriovenous Hemangioma

Melanocytic Nevus

Benign Melanocytic Nevus

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 PPFIA4 VGNC VGNC:33192
Rattus norvegicus PPFIA4 RGD RGD:620055
Canis familiaris PPFIA4 VGNC VGNC:44846
Mus musculus PPFIA4 MGD MGI:1915757
Felis catus PPFIA4 VGNC VGNC:68984
Macaca mulatta PPFIA4 VGNC VGNC:76237