ZZEF1 Gene: Zinc Finger ZZ-Type and EF-Hand Domain Containing 1
Comprehensive genomic and functional overview of ZZEF1, a protein-coding gene with roles in cellular signaling and potential implications in cancer and developmental disorders.
Gene Information Card
| Symbol | ZZEF1 |
|---|---|
| Full Name | zinc finger ZZ-type and EF-hand domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 23140 ncbi.nlm.nih.gov/gene/23140 |
| Ensembl ID | ENSG00000108654 |
| UniProt ID | O43149 |
| OMIM ID | 618659 |
| HGNC ID | 29026 |
| Aliases | ZZZ1, KIAA0399, FLJ11273 |
Description
ZZEF1 (zinc finger ZZ-type and EF-hand domain containing 1) is a protein-coding gene located on chromosome 17p13.2. The encoded protein contains a ZZ-type zinc finger domain and EF-hand motifs, suggesting roles in calcium-dependent signaling and protein-protein interactions. ZZEF1 is ubiquitously expressed and has been implicated in cellular processes such as proliferation and differentiation. Alterations in ZZEF1 have been reported in various cancers and developmental disorders, though its precise biological functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations and copy number alterations may contribute to tumorigenesis | COSMIC; PMID: 23535601 |
| Lung adenocarcinoma | Recurrent mutations observed in sequencing studies | COSMIC; PMID: 24718852 |
| Developmental delay / intellectual disability | De novo variants reported in neurodevelopmental cohorts | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 4.1 | Low |
| Kidney | 6.0 | Medium |
| Testis | 8.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.3 | Embryonic kidney cells |
| HeLa | 5.9 | Cervical cancer cells |
| A549 | 4.8 | Lung carcinoma cells |
| K562 | 6.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact; predicted damaging by SIFT |
| c.2567_2568del (p.Gln856fs) | Frameshift | Rare | Loss of function; truncation |
| c.3456G>A (p.Trp1152*) | Nonsense | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function through nonsense-mediated decay or truncation of the protein.
Gain of Function (GOF)
No gain-of-function mutations have been conclusively reported for ZZEF1.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for ZZEF1.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion binding (GO:0008270) | • calcium ion binding (GO:0005509) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• No specific pathways are currently curated for ZZEF1 in major databases.
Protein Summary
The ZZEF1 protein (UniProt O43149) is 1,234 amino acids long and contains an N-terminal ZZ-type zinc finger domain and multiple EF-hand motifs. The ZZ domain is involved in protein-protein interactions, while EF-hands typically bind calcium, suggesting a role in calcium-regulated signaling. ZZEF1 is localized to the cytoplasm and nucleus, and its expression is widespread. Structural predictions indicate additional coiled-coil regions, but the full functional repertoire remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZZEF1 Knockout HEK293 Cell Line | EDJ-KQ946 | Human | 23140 | Details Get a Quote |
| ZZEF1 Knockout HCT 116 Cell Line | EDJ-KQ19931 | Human | 23140 | Details Get a Quote |
| ZZEF1 Knockout HeLa Cell Line | EDJ-KQ19932 | Human | 23140 | Details Get a Quote |
| ZZEF1 Knockout A-549 Cell Line | EDJ-KQ18600 | Human | 23140 | Details Get a Quote |
