FHL1

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]

Description

Four and a half LIM domains 1

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (136146702 - 136211359)

Ensembl ID

ENSG00000022267  (ver. 103.38)

Orthologs

Mouse Fhl1: ENSMUSG00000023092

UniProt

Q13642

neXtProt

NX_Q13642

Human splice variants
Mouse splice variants

Protein structure