EFCC1 (EF-hand and coiled-coil domain containing 1) is a protein-coding gene located on human chromosome 3 at cytogenetic band 3q21.3. The gene spans approximately 39 kilobases and consists of 14 exons, producing a protein that contains EF-hand motifs (involved in calcium binding) and coiled-coil domains (involved in protein-protein interactions).
Alternative names: C3orf73, CCDC48, FLJ12057
Gene details:
- Species: Human (Homo sapiens)
- Chromosomal location: Chromosome 3, band 3q21.3
- Genomic coordinates: 129,001,304 bp to 129,040,742 bp (GRCh38)
- UniProt ID: Q9HA90
- Entrez Gene ID: 79825
- Ensembl ID: ENSG00000114654
Expression: EFCC1 is expressed in a variety of human tissues, with notable expression in the upper lobe of the left lung, right lung, apex of the heart, testicle, ovaries, gallbladder, spleen, and colon.
Clinical significance: Research has investigated EFCC1 as a putative prognostic biomarker in lung adenocarcinoma (lung ADC). Studies have reported that EFCC1 expression is downregulated with the progression of lung adenocarcinoma, suggesting a potential role as a tumor suppressor or disease progression marker. It has also been associated with conditions such as Osteogenesis Imperfecta Type XII and Nephronophthisis 1 in genetic databases.
Orthologs: The gene is conserved across species, with a mouse ortholog located on chromosome 6 (band 6 D1).
