2. Gene
  3. FILIP1 - filamin A interacting protein 1 Gene

FILIP1 - filamin A interacting protein 1 Gene

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

中文名称：细丝蛋白 A 相互作用蛋白 1

种属: Homo sapiens

同用名: FILIP

基因 ID: 27145 | 基因类型: protein coding

关于 FILIP1

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,291,859-75,493,800 (from NCBI)

This gene has 4 transcripts (splice variants), 280 orthologues and 3 paralogues. Biased expression in heart (RPKM 16.2), esophagus (RPKM 4.3) and 12 other tissues.

功能概要

该基因编码细丝蛋白 A 结合蛋白。编码的蛋白质促进细丝蛋白 A 的降解，并可能调节皮质神经元迁移和树突棘形态。缺乏该基因功能拷贝的小鼠表现出树突棘长度减少和兴奋性信号传导改变。[RefSeq 提供，2016 年 10 月]

This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

FILIP1 基因产物(3)

mRNA Protein Name
NM_001289987.3 NP_001276916.1 filamin-A-interacting protein 1 isoform 1
NM_001300866.3 NP_001287795.1 filamin-A-interacting protein 1 isoform 3
NM_015687.5 NP_056502.1 filamin-A-interacting protein 1 isoform 2

FILIP1 蛋白结构

CortBP2

CortBP2: Cortactin-binding protein-2 (66 - 257)

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  • 1213 a.a.
蛋白主名 其他名称

filamin-A-interacting protein 1

关联疾病

疾病名称 别名
Glioblastoma Proneural Subtype
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04948 FILIP1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS04949 FILIP1L Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus FILIP1 MGD MGI:1917848
Rattus norvegicus FILIP1 RGD RGD:628597
Felis catus FILIP1 VGNC VGNC:62273
Canis familiaris FILIP1 VGNC VGNC:40881
Bos taurus FILIP1 VGNC VGNC:29012
Macaca mulatta FILIP1 VGNC VGNC:72544
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