FBLIM1 - filamin binding LIM protein 1 Gene

Homo sapiens

Also known as CAL; FBLP1; FBLP-1

Gene ID: 54751 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04770	FBLIM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.