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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

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

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

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