Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2273
Gene name Gene Name - the full gene name approved by the HGNC.
Four and a half LIM domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FHL1
Synonyms (NCBI Gene) Gene synonyms aliases
FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq26.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 thes
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs122458140 G>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs122458141 C>G Pathogenic Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs122458142 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs122458143 G>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs122458144 T>C,G Pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019004 hsa-miR-335-5p Microarray 18185580
MIRT734156 hsa-miR-664a-3p Luciferase reporter assay, Western blotting, qRT-PCR, ELISA 31632001
MIRT735992 hsa-miR-96-5p Luciferase reporter assay, qRT-PCR 33322515
MIRT736056 hsa-miR-138-5p Luciferase reporter assay, qRT-PCR 33148375
MIRT735992 hsa-miR-96-5p Luciferase reporter assay, Western blotting, qRT-PCR 36017148
Transcription factors
Transcription factor Regulation Reference
HOXD13 Unknown 18758158
TLX1 Unknown 18073142
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18482256, 19401155, 20969868, 21900206, 23414517, 28671123, 35271311
GO:0005634 Component Nucleus IDA 21702045
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 21702045
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300163 3702 ENSG00000022267
Protein
UniProt ID Q13642
Protein name Four and a half LIM domains protein 1 (FHL-1) (Skeletal muscle LIM-protein 1) (SLIM) (SLIM-1)
Protein function May have an involvement in muscle development or hypertrophy.
PDB 1X63 , 2CUP , 2CUR , 2EGQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 40 97 LIM domain Domain
PF00412 LIM 101 158 LIM domain Domain
PF00412 LIM 162 216 LIM domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and
Sequence
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF
WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTRED
SPKCKGCFKAIVAGDQNVEYKGT
VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKF
AKHCVKCNKAITSGGITYQDQP
WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNF
VAKKCAGCKNPITGKRTVSRVSHP
VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
APVWWPMKDNPGTTTASTAKNAP
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  JAK-STAT signaling pathway
Cytoskeleton in muscle cells
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myopathy With Postural Muscle Atrophy, X-Linked x-linked myopathy with postural muscle atrophy rs1569530437, rs1603273685, rs122458145, rs1603272263, rs267606813, rs1603272223, rs122458141, rs122459146, rs1060502840, rs122458140, rs1603271580, rs1556639151, rs2073913069, rs1556638935, rs2073866799
View all (9 more)
N/A
Myopathy, Reducing Body, X-Linked myopathy, reducing body, x-linked, childhood-onset, myopathy, reducing body, x-linked, early-onset, severe rs122458145, rs267606812, rs267606813, rs122459146, rs122459147, rs122458142, rs122458143, rs122458144 N/A
Scapuloperoneal Muscular Dystrophy, X-Linked x-linked scapuloperoneal muscular dystrophy rs122458140, rs1603271580 N/A
Centronuclear Myopathy centronuclear myopathy rs122458143 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Emery-Dreifuss Muscular Dystrophy, X-Linked X-linked Emery-Dreifuss muscular dystrophy N/A N/A GenCC
Hemophagocytic Lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis type 1 N/A N/A ClinVar
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy N/A N/A ClinVar
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35854639
Adenocarcinoma Follicular Associate 16675914
Adenocarcinoma of Lung Associate 36017148, 36695131
Adenocarcinoma of Lung Inhibit 36752296
Arthritis Reactive Associate 10931160
Arthritis Rheumatoid Associate 10931160, 12780697
Breast Neoplasms Associate 19840196
Carcinogenesis Associate 19840196, 29454310
Carcinoma Non Small Cell Lung Associate 36202977
Carcinoma Pancreatic Ductal Associate 35142956