FHL1 - four and a half LIM domains 1 Gene

Also Known as KYOT; SLIM; FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; SLIM1; XMPMA; RBMX1A; RBMX1B; SLIM-1; SLIMMER

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2273

About FHL1

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:136,146,702-136,211,359 (from NCBI)

This gene has 36 transcripts (splice variants), 214 orthologues, 20 paralogues and is associated with 12 phenotypes. Broad expression in heart (RPKM 286.6), fat (RPKM 281.6) and 18 other tissues.

Summary

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

FHL1 Products (15)

mRNA	Protein	Name
NM_001159699.2	NP_001153171.1	four and a half LIM domains protein 1 isoform 5
NM_001159700.2	NP_001153172.1	four and a half LIM domains protein 1 isoform 2
NM_001159701.2	NP_001153173.1	four and a half LIM domains protein 1 isoform 3 precursor
NM_001159702.3	NP_001153174.1	four and a half LIM domains protein 1 isoform 1
NM_001159703.2	NP_001153175.1	four and a half LIM domains protein 1 isoform 4
NM_001159704.1	NP_001153176.1	four and a half LIM domains protein 1 isoform 2
NM_001167819.1	NP_001161291.1	four and a half LIM domains protein 1 isoform 2
NM_001330659.2	NP_001317588.1	four and a half LIM domains protein 1 isoform 6
NM_001369326.1	NP_001356255.1	four and a half LIM domains protein 1 isoform 1
NM_001369327.2	NP_001356256.1	four and a half LIM domains protein 1 isoform 1
NM_001369328.1	NP_001356257.1	four and a half LIM domains protein 1 isoform 1
NM_001369329.1	NP_001356258.1	four and a half LIM domains protein 1 isoform 2
NM_001369330.1	NP_001356259.1	four and a half LIM domains protein 1 isoform 2
NM_001369331.1	NP_001356260.1	four and a half LIM domains protein 1 isoform 2
NM_001449.5	NP_001440.2	four and a half LIM domains protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18482256	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	18281375	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	21702045	GOA
involved in negative regulation of G2/M transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	21702045	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	21702045	GOA
involved in positive regulation of potassium ion transport	IDA IDA: Inferred from direct assay	18281375	GOA
involved in regulation of membrane depolarization	IDA IDA: Inferred from direct assay	18281375	GOA
involved in regulation of potassium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	18281375	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21702045	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21702045	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18281375	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

FHL1 Protein Structure

LIM

0
100
200
300
323 a.a.

Protein Preferred Names	Protein Names
four and a half LIM domains protein 1	LIM protein SLIMMER

FHL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FHL1	Q13642	NRIP1	Homo sapiens	P48552	Anti Bait CoIP	19401155
Intra	FHL1	Q13642	NRIP1	Homo sapiens	P48552	Anti Tag CoIP	19401155
Intra	FHL1	Q13642	NRIP1	Homo sapiens	P48552	Y2H	19401155

Cross: Cross-species interaction Intra: Intraspecies interaction

FHL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81923	FHL1 Antibody (YA1668)	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myopathy, X-Linked, With Postural Muscle Atrophy	Emery-Dreifuss Muscular Dystrophy 6, X-Linked XMPMA X-Linked Myopathy With Postural Muscle Atrophy X-Linked Emery-Dreifuss Muscular Dystrophy 6 EDMD6 Emd6
Scapuloperoneal Myopathy, X-Linked Dominant	X-Linked Scapuloperoneal Muscular Dystrophy SPM Scapuloperoneal Myopathy, Fhl1-Related X-Linked Spmd X-Linked Scapuloperoneal Syndrome X-Linked Dominant Scapuloperoneal Myopathy Scapuloperoneal Myopathy Fhl1-Related X-Linked Emery-Dreifuss Muscular Dystrophy
Reducing Body Myopathy, X-Linked 1a, Severe, With Infantile Or Early Childhood Onset	Myopathy, Reducing Body, X-Linked, Early-Onset, Severe RBMX1A Reducing Body Myopathy, X-Linked 1a, Severe, Infantile Or Early Childhood Onset Myopathy, Reducing Body, X-Linked, Severe Early-Onset
Reducing Body Myopathy, X-Linked 1b, With Late Childhood Or Adult Onset	RBMX1B
Uruguay Faciocardiomusculoskeletal Syndrome	FCMSU Faciocardiomusculoskeletal Syndrome, Uruguay Type Fcms Musculoskeletal Diseases
Reducing Body Myopathy	Myopathy, Reducing Body Reducing-Body Myopathy
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked
Scapuloperoneal Myopathy
Hemophagocytic Lymphohistiocytosis, Familial, 1	Familial Hemophagocytic Lymphohistiocytosis Fhl Familial Erythrophagocytic Lymphohistiocytosis Hemophagocytic Syndrome FHL1 Hplh1 Hlh1 Fel Familial Hemophagocytic Lymphohistiocytosis 1 Primary Hemophagocytic Lymphohistiocytosis Familial Hlh Hlh Familial Hemophagocytic Lymphocytosis Hemophagocytic Lymphohistiocytosis, Familial Reticulosis, Familial Histiocytic Hemophagocytic Reticulosis, Familial Erythrophagocytic Lymphohistiocytosis, Familial Familial Histiocytic Reticulosis Familial Hemophagocytic Histiocytosis Familial Hemophagocytic Reticulosis Fhlh Hplh Primary Hemophagocytic Hymphohistiocytosis Genetic Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis Type 1
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Muscle Hypertrophy	MSLHP Hypertrophy Hypertrophy, Muscle
Chikungunya	Chikungunya Fever Arbovirus A Chikungunya Type Chik Chikv Infection Ck Chikungunya Virus Infection Chikungunya Haemorrhagic Fever Chikungunya Viral Disease Chikungunya Mosquito-Borne Viral Fever
Progressive Muscular Dystrophy
Foot Drop
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Myopathy	Muscular Diseases Myopathies
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	EDMD5 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 Emd5 Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	EDMD4 Emery-Dreifuss Muscular Dystrophy 4 With Variable Features Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 Emd4 Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Scoliosis
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02561	CFH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02562	CFHR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04934	FHL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18240	Fhl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24719	Fhl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FHL1	VGNC	VGNC:40871
Mus musculus	FHL1	MGD	MGI:1298387
Rattus norvegicus	FHL1	RGD	RGD:2615
Macaca mulatta	FHL1	VGNC	VGNC:72660
Felis catus	FHL1	VGNC	VGNC:62264
Bos taurus	FHL1	VGNC	VGNC:28999
Others	FHL1	NCBI