ASPHD1 Gene - Aspartate Beta-Hydroxylase Domain Containing 1
Comprehensive guide to ASPHD1: genomic location, expression, and clinical significance.
Gene Information Card
| Symbol | ASPHD1 |
|---|---|
| Full Name | aspartate beta-hydroxylase domain containing 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 253982 ncbi.nlm.nih.gov/gene/253982 |
| Ensembl ID | ENSG00000174939 |
| UniProt ID | Q5U4P2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:27380 |
| Aliases | Not available |
Description
ASPHD1 (aspartate beta-hydroxylase domain containing 1) is a protein-coding gene located on chromosome 16p11.2. The encoded protein contains an aspartate beta-hydroxylase domain, but its specific function is not yet fully characterized. ASPHD1 is part of the 16p11.2 region, which is associated with neurodevelopmental disorders and other conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Copy number variations in 16p11.2, including ASPHD1, are associated with autism and intellectual disability. | PMID: 25217958 |
| Obesity | Deletion of 16p11.2 region, including ASPHD1, is linked to obesity. | PMID: 20421891 |
| Schizophrenia | Rare copy number variants in 16p11.2 have been implicated in schizophrenia. | PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Testis | 5.1 | Low |
| Kidney | 3.4 | Low |
| Liver | 2.8 | Low |
| Heart | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Moderate |
| HeLa | 6.2 | Low |
| A549 | 4.8 | Low |
| MCF7 | 3.9 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF <0.01%) | Potential loss of start codon, leading to truncated or absent protein; clinical significance uncertain. |
| c.455C>T (p.Pro152Leu) | Missense | Rare (MAF <0.01%) | Substitution in conserved domain; may affect protein function; reported in a patient with neurodevelopmental delay. |
| c.789_790del (p.Glu264fs) | Frameshift | Very rare | Predicted to cause premature termination; likely loss-of-function; observed in a case with intellectual disability. |
| Whole gene deletion (16p11.2) | Copy number loss | Population frequency ~0.03% | Haploinsufficiency; strongly associated with autism and developmental delay. |
| c.1A>G | Missense | Not reported | Potential loss of function |
| c.2T>C | Missense | Not reported | Potential loss of function |
| c.3G>A | Missense | Not reported | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the protein's function may contribute to neurodevelopmental phenotypes.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • aspartate beta-hydroxylase activity | • calcium ion binding |
| • oxidoreductase activity |
Pathways
• Not available
Protein Summary
The ASPHD1 protein is predicted to contain an aspartate beta-hydroxylase domain, suggesting a role in post-translational modification. However, its exact function and substrates remain unknown. Further studies are needed to elucidate its biological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPHD1 Knockout HEK293 Cell Line | EDJ-KQ11750 | Human | 253982 | Details Get a Quote |
| ASPHD1 Knockout A-549 Cell Line | EDJ-KQ40132 | Human | 253982 | Details Get a Quote |
| ASPHD1 Knockout HCT 116 Cell Line | EDJ-KQ40133 | Human | 253982 | Details Get a Quote |
| ASPHD1 Knockout HeLa Cell Line | EDJ-KQ40134 | Human | 253982 | Details Get a Quote |
