2. Gene
  3. FHL1 - four and a half LIM domains 1 Gene

FHL1 - four and a half LIM domains 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 2273 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

LIM: LIM domain (40 - 94)

LIM

LIM: LIM domain (101 - 158)

LIM

LIM: LIM domain (162 - 214)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04934 FHL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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