Homo sapiens Gene: FHL1
Summary
InnateDB Gene IDBG-87389.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FHL1
Gene Name four and a half LIM domains 1
Synonyms FHL-1; FHL1A; FHL1B; FLH1A; KYOT; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA;
Species Homo sapiens
Ensembl Gene ENSG00000022267
Encoded Proteins
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
four and a half LIM domains 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:136147400-136211359
Strand Forward strand
Band q26.3
Transcripts
ENST00000370690 ENSP00000359724
ENST00000345434 ENSP00000071281
ENST00000370683 ENSP00000359717
ENST00000370676 ENSP00000359710
ENST00000370674 ENSP00000359708
ENST00000394155 ENSP00000377710
ENST00000394153 ENSP00000377709
ENST00000420362 ENSP00000391779
ENST00000458357 ENSP00000389920
ENST00000452016 ENSP00000408038
ENST00000434885 ENSP00000413798
ENST00000456445 ENSP00000412642
ENST00000449474 ENSP00000414604
ENST00000477204
ENST00000477080
ENST00000539015 ENSP00000437673
ENST00000535737 ENSP00000444815
ENST00000543669 ENSP00000443333
ENST00000618438 ENSP00000477609
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
Experimentally validated
Total 49 [view]
Protein-Protein 49 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0044325 ion channel binding
Biological Process
GO:0003254 regulation of membrane depolarization
GO:0007517 muscle organ development
GO:0009887 organ morphogenesis
GO:0010972 negative regulation of G2/M transition of mitotic cell cycle
GO:0030154 cell differentiation
GO:0030308 negative regulation of cell growth
GO:0043268 positive regulation of potassium ion transport
GO:1901016 regulation of potassium ion transmembrane transporter activity
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
Notch pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL Q5JXH9 Q5JXI0
UniProt Splice Variant
Entrez Gene 2273
UniGene
RefSeq NM_001159703 NM_001449 NM_001159699 NM_001159700 NM_001159702 NM_001159701 NM_001167819 NM_001159704 XM_006724747 XM_006724746 XM_006724743 XM_006724745 XM_006724744
HUGO HGNC:3702
OMIM 300163
CCDS CCDS76036 CCDS14655 CCDS55507 CCDS55506 CCDS55505
HPRD
IMGT
EMBL AL078638
GenPept
RNA Seq Atlas 2273