Samhd1 MGI Mouse Gene Detail - MGI:1927468 - SAM domain and HD domain, 1

Samhd1 Gene Detail

Symbol

Samhd1
Name

SAM domain and HD domain, 1
Synonyms

E330031J07Rik

Feature Type

protein coding gene
IDs

MGI:1927468
NCBI Gene: 56045
Gene Overview

MyGene.info: SAMHD1

Sequence Map

Chr2:157097533-157135265 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

37733 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 78.00 cM, cytoband H2
Mapping Data

3 experiments

Human Ortholog

SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Vertebrate Orthologs

10

Human Ortholog

SAMHD1, SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Orthology source: HomoloGene, HGNC
Synonyms

CHBL2, DCIP, HDDC1, MOP-5, SBBI88
Links

HGNC:15925

NCBI Gene ID: 25939

neXtProt AC: NX_Q9Y3Z3

UniProt: Q9Y3Z3
Chr Location

20q11.23; chr20:36890882-36951843 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 9160
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SAMHD1
Gene Tree

Samhd1

Diseases

2 with human SAMHD1 associations

				Human Disease	Mouse Models
				Aicardi-Goutieres syndrome IDs Aicardi-Goutieres syndrome DOID:0050629 ICD10CM:G31.8 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 ORDO:51
				Chilblain lupus IDs Chilblain lupus DOID:0060386 MESH:C535924 OMIM:610448 OMIM:614415 ORDO:90280 UMLS_CUI:C0024145

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 6 alleles in 3 genetic backgrounds
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Gene trapped

2
Targeted

9
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available

Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1.

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All GO Annotations

26
GO References

3

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

21
Tissues

3
cDNA Data

18
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase samhd1

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Samhd1 interacts with 325 markers (Mir7-1, Mir9-1, Mir9-2, ...) View All

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All Sequences

74
RefSeq

6
UniProt

12
CCDS

CCDS16973.2, CCDS50783.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000016173	VEGA Gene Model \| MGI Sequence Detail	37733	C57BL/6J	± kb
transcript	OTTMUST00000038703	VEGA \| MGI Sequence Detail	3926	Not Applicable
polypeptide	OTTMUSP00000017309	VEGA \| MGI Sequence Detail	658	Not Applicable

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SNPs within 2kb

403 from dbSNP Build 142

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UniProt

12 Sequences
Protein Ontology

PR:000014443 deoxynucleoside triphosphate triphosphohydrolase SAMHD1

(term hierarchy)
EC

3.1.5.-
InterPro Domains

IPR006674 HD domain

IPR003607 HD/PDEase domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain

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All nucleic 18

cDNA 18

Microarray probesets 10

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MGI:2442130

Summaries

All 35

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 8
Earliest

J:23604 Lafuse WP, et al., Cloning and characterization of a novel cDNA that is IFN-gamma-induced in mouse peritoneal macrophages and encodes a putative GTP-binding protein. J Leukoc Biol. 1995 Mar;57(3):477-83
Latest

J:240874 Mlcochova P, et al., A G1-like state allows HIV-1 to bypass SAMHD1 restriction in macrophages. EMBO J. 2017 Mar 01;36(5):604-616

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 06/20/2017 MGI 6.10