FBLIM1 - filamin binding LIM protein 1 Gene

Also Known as CAL; FBLP1; FBLP-1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 54751

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables filamin binding	IDA IDA: Inferred from direct assay	19074766	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19828450	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	19074766	GOA
involved in regulation of integrin activation	IMP IMP: Inferred from mutant phenotype	19074766	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cell periphery	IDA IDA: Inferred from direct assay	18528435	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18528435	GOA
located in focal adhesion	IDA IDA: Inferred from direct assay	18528435	GOA
located in stress fiber	IDA IDA: Inferred from direct assay	18829455	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FBLIM1 Protein Structure

LIM

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
filamin-binding LIM protein 1	CSX-associated LIM

FBLIM1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	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

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04770	FBLIM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	FBLIM1	NCBI