Basic Information

Symbol
SAMHD1
RNA class
mRNA
Alias
SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1 MOP-5 Monocyte Protein 5 SBBI88 HDDC1 Deoxynucleoside Triphosphate Triphosphohydrolase SAMHD1 SAM Domain And HD Domain-Containing Protein 1 Dendritic Cell-Derived IFNG-Induced Protein SAM Domain And HD Domain 1 HSAMHD1 DNTPase Mg11 AGS5 DCIP Aicardi-Goutieres Syndrome 5 HD Domain Containing 1 EC 3.1.5.- CHBL2 MOP5
Location (GRCh38)
20:36890229-36951893
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Postmortem interval inference
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_015474.4
Sequence length
4649.0 nt
GC content
0.4599

Transcripts

ID Sequence Length GC content
NM_001363729.2 NCBI
AGUGCGCCUGCGCGCGGGUCCGGCGCCGAGGUUCUUGACUGCUGUGCCG… 5000 nt 0.4542
NM_001363733.2 NCBI
AGUGCGCCUGCGCGCGGGUCCGGCGCCGAGGUUCUUGACUGCUGUGCCG… 3048 nt 0.4409
NM_015474.4 NCBI
AGUGCGCCUGCGCGCGGGUCCGGCGCCGAGGUUCUUGACUGCUGUGCCG… 4649 nt 0.4599
Summary

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

Forensic Context

A longitudinal mRNA expression analysis in human post-mortem blood samples demonstrated that the SAMHD1 (SAMHD1) was identified as a protein-coding gene with a negative coefficient in a post-mortem interval (PMI) prediction model, indicating its down-regulated expression pattern after death and inclusion in a down-regulated cluster [Antiga et al. DOI:10.1038/s41598-021-96095-z].