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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Kasher et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With samhd1 Human Ortholog
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
Associated With samhd1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001660 Sterile alpha motif domain
Domain IPR003607 HD/PDEase domain
Domain IPR006674 HD domain
Homologous_superfamily IPR013761 Sterile alpha motif/pointed domain superfamily
Domain Details Per Protein
Protein Length HD domain HD/PDEase domain Sterile alpha motif domain Sterile alpha motif/pointed domain superfamily
UniProtKB:Q502K2 622
UniProtKB:F1R861 622
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations