2. Gene
  3. FBLIM1 - filamin binding LIM protein 1 Gene

FBLIM1 - filamin binding LIM protein 1 Gene

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

中文名称：细丝蛋白结合 LIM 蛋白 1

种属: Homo sapiens

同用名: CAL; FBLP1; FBLP-1

基因 ID: 54751 | 基因类型: protein coding

关于 FBLIM1

Cytogenetic location: 1p36.21 Genomic coordinates (GRCh38): 1:15,756,638-15,786,589 (from NCBI)

This gene has 15 transcripts (splice variants), 180 orthologues and 1 paralogue. Broad expression in gall bladder (RPKM 17.5), colon (RPKM 14.6) and 22 other tissues.

功能概要

该基因编码的蛋白质具有 N 末端细丝蛋白结合域、中央富含脯氨酸的域和多个 C 末端 LIM 域。这种蛋白质位于细胞连接处，可能将细胞粘附结构连接到肌动蛋白细胞骨架。这种蛋白质可能参与肌动蛋白丝的组装和稳定，并可能在调节细胞粘附、细胞形态和细胞运动中发挥作用。这种蛋白质也定位于细胞核，并可能在与 CSX/NKX2-5 转录因子结合后影响心肌细胞分化。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin Cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

FBLIM1 基因产物(4)

mRNA Protein Name
NM_001024215.1 NP_001019386.1 filamin-binding LIM protein 1 isoform b
NM_001024216.3 NP_001019387.1 filamin-binding LIM protein 1 isoform c
NM_001350151.2 NP_001337080.1 filamin-binding LIM protein 1 isoform a
NM_017556.4 NP_060026.2 filamin-binding LIM protein 1 isoform a
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 filamin binding IDA
IDA: 通过直接分析推断
19074766 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19828450 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-cell adhesion IMP
IMP: 通过突变表型推断
19074766 GOA
involved in regulation of integrin activation IMP
IMP: 通过突变表型推断
19074766 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell periphery IDA
IDA: 通过直接分析推断
18528435 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18528435 GOA
located in focal adhesion IDA
IDA: 通过直接分析推断
18528435 GOA
located in stress fiber IDA
IDA: 通过直接分析推断
18829455 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

FBLIM1 蛋白结构

LIM

LIM: LIM domain (183 - 238)

LIM

LIM: LIM domain (243 - 299)

LIM

LIM: LIM domain (303 - 367)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
蛋白主名 其他名称

filamin-binding LIM protein 1

CSX-associated LIM

FBLIM1 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
Intra FBLIM1 Q8WUP2 CUTA Homo sapiens O60888
Y2H Array
25416956
Intra FBLIM1 Q8WUP2 CUTA Homo sapiens O60888
Anti Tag CoIP
33961781
Intra FBLIM1 Q8WUP2 CUTA Homo sapiens O60888
Y2H Prey Pooling
25416956
Intra FBLIM1 Q8WUP2 ADAT3 Homo sapiens Q96EY9
Validated Y2H
32296183
Intra FBLIM1 Q8WUP2 H3C1 Homo sapiens P68431
Validated Y2H
25416956
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
Chronic Recurrent Multifocal Osteomyelitis

Chronic Multifocal Osteomyelitis

CRMO

Cmo

Cno/Crmo

Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis

Osteomyelitis, Chronic Multifocal

Multifocal Osteomyelitis, Chronic

Chronic Osteomyelitis

Chronic Multifocal Osteomyelitis, Unspecified Site

Crmo - [Chronic Multifocal Osteomyelitis]

Chronic Osteomyelitis With Draining Sinus, Unspecified Site

Bone Fistula With Chronic Osteomyelitis
Kindler Syndrome

Poikiloderma Of Kindler

Bullous Acrokeratotic Poikiloderma Of Kindler And Weary

Congenital Bullous Poikiloderma

KNDLRS

Poikiloderma, Hereditary Acrokeratotic

Poikiloderma, Congenital, With Bullae, Weary Type

Kindler'S Syndrome

Poikiloderma Congenital With Bullae Weary Type

Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary

Hereditary Acrokeratotic Poikiloderma

Weary Syndrome

Poikiloderma Hereditary Acrokeratotic

Potassium Deficiency
Osteomyelitis
Sapho Syndrome

Acquired Hyperostosis Syndrome

Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome

Synovitis Acne Pustulosis Hyperostosis Osteitis

Synovitis, Acne, Pustlosis, Hyperostosis, And Osteomyelitis

Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome

Synovitis, Acne, Pustulosis, Hyperostosis, And Osteitis Syndrome

Pustulo-Psoriatic Hyperostotic Spondylarthritis

Sapho - [Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis] Syndrome
Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3

LAD3

Leukocyte Adhesion Deficiency 1 Variant

Lad1v

Integrin Activation Deficiency Disease

Iadd

Leukocyte Adhesion Deficiency Type Iii

Lad1 Variant

Lad-1 Variant

Lad-Iii

Leukocyte Adhesion Deficiency-1 Variant

Leukocyte Adhesion Deficiency Type 1
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-RS04770 FBLIM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus FBLIM1 VGNC VGNC:28880
Mus musculus FBLIM1 MGD MGI:1921452
Felis catus FBLIM1 VGNC VGNC:62166
Canis familiaris FBLIM1 VGNC VGNC:40749
Rattus norvegicus FBLIM1 RGD RGD:1359551
Macaca mulatta FBLIM1 VGNC VGNC:72566
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