• Gene id: 2273

Gene Summary

• Gene Symbol: FHL1   Gene   UCSC   Ensembl
• Aliases: FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B, SLIM, SLIM-1, SLIM1, SLIMMER, XMPMA
• Gene name: four and a half LIM domains 1
• Alternate names: four and a half LIM domains protein 1, LIM protein SLIMMER, four-and-a-half Lin11, Isl-1 and Mec-3 domains 1, skeletal muscle LIM-protein 1,
• Gene location: Xq26.3 (136146701: 136211358)     Exons: 17     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300163

Protein Summary

• Protein general information: Q13642  
  • Name: Four and a half LIM domains protein 1 (FHL 1) (Skeletal muscle LIM protein 1) (SLIM) (SLIM 1)
  • Length: 323  
  • Mass: 36263
  • 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:

  MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPL
  ANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYC
  VTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCK
  NPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
  APVWWPMKDNPGTTTASTAKNAP

• Structural information:
  • Protein Domains: (40..9-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (101..15-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (162..21-)
    3 (/note="LIM-zinc-binding)
    (/evidence="ECO:0-)
  • Interpro: IPR042997  IPR001781  
  • Prosite: PS00478 PS50023
  • PDB: 1X63 2CUP 2CUR 2EGQ
  • PDBsum: 1X63 2CUP 2CUR 2EGQ
  • STRING: ENSP00000377710
• Other Databases: GeneCards:  FHL1  Malacards:  FHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044325	ion channel binding	IBA	molecular function
GO:0007517	muscle organ development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0003254	regulation of membrane depolarization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0043268	positive regulation of potassium ion transport	IDA	biological process
GO:1901016	regulation of potassium ion transmembrane transporter activity	IDA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0009887	animal organ morphogenesis	NAS	biological process
GO:0007517	muscle organ development	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04630	JAK-STAT signaling pathway

Diseases

Associated diseases	References
Emery-Dreifuss muscular dystrophy	KEGG:H00563
Scapuloperoneal myopathy	KEGG:H00656
Reducing body myopathy	KEGG:H00657
X-linked myopathy with postural muscle atrophy	KEGG:H00697
Emery-Dreifuss muscular dystrophy	KEGG:H00563
Scapuloperoneal myopathy	KEGG:H00656
Reducing body myopathy	KEGG:H00657
X-linked myopathy with postural muscle atrophy	KEGG:H00697
hypertrophic cardiomyopathy	PMID:11583900
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray