AMDHD1
Amidohydrolase Domain Containing 1
Gene Information Card
| Symbol | AMDHD1 |
|---|---|
| Full Name | Amidohydrolase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 144193 ncbi.nlm.nih.gov/gene/144193 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q96NU7 |
| OMIM ID | 617657 |
| HGNC ID | 28332 |
| Aliases | FLJ11273, MGC13170 |
Description
AMDHD1 (amidohydrolase domain containing 1) is a protein-coding gene located on chromosome 12q23.3. It encodes a putative amidohydrolase enzyme, though its specific biochemical function and physiological substrates remain under investigation. The gene is expressed in various tissues and may play a role in metabolic pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Small intestine | 6.1 | Low |
| Testis | 4.8 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| A549 | 4.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • amidohydrolase activity (GO:0016810) | • hydrolase activity (GO:0016787) |
| • metal ion binding (GO:0046872) |
Pathways
• Metabolic pathways (KEGG) - predicted
Protein Summary
The AMDHD1 protein (UniProt Q96NU7) is a 456-amino acid amidohydrolase domain-containing enzyme. Its structure includes a conserved amidohydrolase fold, suggesting metal-dependent catalytic activity. The protein is predicted to localize to the cytoplasm and may participate in nitrogenous compound metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMDHD1 Knockout HEK293 Cell Line | EDJ-KQ10407 | Human | 144193 | Details Get a Quote |
| AMDHD1 Knockout A-549 Cell Line | EDJ-KQ37759 | Human | 144193 | Details Get a Quote |
| AMDHD1 Knockout HCT 116 Cell Line | EDJ-KQ37760 | Human | 144193 | Details Get a Quote |
| AMDHD1 Knockout HeLa Cell Line | EDJ-KQ58503 | Human | 144193 | Details Get a Quote |
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