Gene
samhd1
- ID
- ZDB-GENE-090313-386
- Name
- SAM domain and HD domain 1
- Symbol
- samhd1 Nomenclature History
- Previous Names
-
- si:dkeyp-44b8.8
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have several functions, including dGTP binding activity; dGTPase activity; and nucleic acid binding activity. Involved in regulation of innate immune response. Predicted to localize to nucleus and site of double-strand break. Used to study Aicardi-Goutieres syndrome. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome and Chilblain lupus. Orthologous to human SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Withers et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Aicardi-Goutieres syndrome | Alliance | Aicardi-Goutieres syndrome 5 | 612952 |
| Chilblain lupus | Alliance | ?Chilblain lupus 2 | 614415 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Aicardi-Goutieres syndrome | AB + MO2-samhd1 | standard conditions | Kasher et al., 2015 |
| Aicardi-Goutieres syndrome | AB + MO1-samhd1 | standard conditions | Kasher et al., 2015 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Deoxyguanosinetriphosphate triphosphohydrolase-like | HD domain | HD/PDEase domain | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AMJ3
|
621 | |||||
|
UniProtKB:Q502K2
|
622 | |||||
|
UniProtKB:F1R861
|
622 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
samhd1-201
(1)
|
Ensembl | 3,072 nt |
Interactions and Pathways
No data available
Plasmids
No data available