NACAD Gene: NAC Alpha Domain Containing
Comprehensive gene information for NACAD, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | NACAD |
|---|---|
| Full Name | NAC alpha domain containing |
| Gene Type | protein-coding |
| Chromosomal Location | 7p15.3 |
| NCBI Gene ID | 23148 ncbi.nlm.nih.gov/gene/23148 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | Q9BWT7 |
| OMIM ID | 618835 |
| HGNC ID | 24567 |
| Aliases | FLJ10305, MGC13170 |
Description
NACAD (NAC alpha domain containing) is a protein-coding gene located on chromosome 7p15.3. The encoded protein contains a NAC domain, which is involved in transcriptional regulation and cellular stress responses. NACAD is expressed in various tissues and has been implicated in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Potential role in neuronal differentiation; loss-of-function variants may disrupt development | Limited evidence from case studies (ClinVar) |
| Breast cancer | Overexpression may promote tumor growth via altered transcription | COSMIC somatic mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Cervical cancer cell line |
| HEK293 | 8.9 | Embryonic kidney cell line |
| SH-SY5Y | 14.1 | Neuroblastoma cell line |
| MCF7 | 11.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown; predicted damaging (SIFT) |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted benign (PolyPhen) |
| c.123delC (p.Pro42fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.123delC) likely result in truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • nucleus (GO:0005634) |
| • regulation of transcription, DNA-templated (GO:0006355) |
Pathways
• Not assigned to any curated pathway in Reactome or KEGG.
Protein Summary
The NACAD protein (UniProt Q9BWT7) contains a NAC domain, a conserved alpha-helical region involved in protein-protein interactions and transcriptional regulation. It is localized to the nucleus and may function as a transcription factor or cofactor. The protein is 364 amino acids long with a molecular weight of approximately 40 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NACAD Knockout HEK293 Cell Line | EDJ-KQ7854 | Human | 23148 | Details Get a Quote |
| NACAD Knockout HeLa Cell Line | EDJ-KQ55695 | Human | 23148 | Details Get a Quote |
| NACAD Knockout A-549 Cell Line | EDJ-KQ64193 | Human | 23148 | Details Get a Quote |
| NACAD Knockout HCT 116 Cell Line | EDJ-KQ72637 | Human | 23148 | Details Get a Quote |
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