SACK1H Gene - Scaffolding CK1 Anchoring Protein H
Complete genetic and functional information for SACK1H (FAM83H)
Gene Information Card
| Symbol | SACK1H |
|---|---|
| Full Name | scaffolding CK1 anchoring protein H |
| Gene Type | gene with protein product |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 286077 ncbi.nlm.nih.gov/gene/286077 |
| Ensembl ID | ENSG00000180921 |
| UniProt ID | Q6ZRV2 |
| OMIM ID | 611927 |
| HGNC ID | HGNC:24797 |
| Aliases | FLJ46072, FAM83H |
Description
SACK1H (scaffolding CK1 anchoring protein H) is a protein-coding gene located on chromosome 8q24.3. It is also known as FAM83H. The gene encodes a protein that acts as a scaffold for casein kinase 1 (CK1), anchoring it to specific cellular locations. SACK1H is involved in various cellular processes, including cytoskeletal organization and cell polarity. Mutations in this gene have been associated with certain diseases, and its expression is tissue-specific.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis imperfecta | Mutations in SACK1H disrupt enamel formation, leading to autosomal dominant amelogenesis imperfecta. | OMIM: 611927; ClinVar |
| Cancer | Altered expression of SACK1H has been observed in various cancers, potentially affecting tumor progression. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | High | nTPM data from GTEx |
| Kidney | Medium | nTPM data from GTEx |
| Liver | Low | nTPM data from GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Medium | Cancer cell line |
| A549 | Low | Lung cancer cell line |
| MCF7 | Low | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.973C>T (p.Arg325Ter) | Nonsense | Rare | Loss of function, associated with amelogenesis imperfecta |
| c.1195G>A (p.Gly399Ser) | Missense | Rare | Potential functional impact, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations, such as nonsense variants, lead to truncated proteins and are associated with amelogenesis imperfecta.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for SACK1H.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner, interfering with normal protein function.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • scaffold protein |
| • cytoskeleton organization | • cell polarity |
Pathways
• Wnt signaling pathway
• Cell cycle
Protein Summary
The SACK1H protein is a scaffolding protein that anchors casein kinase 1 (CK1) to specific subcellular locations. It plays a role in regulating cytoskeletal dynamics and cell polarity. The protein is expressed in various tissues, with high levels in salivary gland and kidney. Mutations in SACK1H are linked to amelogenesis imperfecta, a disorder of tooth enamel development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SACK1H Knockout HEK293 Cell Line | EDJ-KQ13371 | Human | 286077 | Details Get a Quote |
| SACK1H Knockout HeLa Cell Line | EDJ-KQ41631 | Human | 286077 | Details Get a Quote |
| SACK1H Knockout A-549 Cell Line | EDJ-KQ42856 | Human | 286077 | Details Get a Quote |
| SACK1H Knockout HCT 116 Cell Line | EDJ-KQ42857 | Human | 286077 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
