SAMHD1

GENERAL INFORMATION

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Gene name

SAMHD1

Gene description

SAM domain and HD domain 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA047072
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SAMHD1 (HGNC Symbol)

Synonyms

AGS5, HDDC1, Mg11, MOP-5, SBBI88

Description

SAM domain and HD domain 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

20

Cytoband

q11.23

Chromosome location (bp)

36890229 - 36951843

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101347 (version 78.38)

Entrez gene

25939

UniProt

Q9Y3Z3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y3Z3

Antibodypedia

SAMHD1 antibodies


PROTEIN BROWSER

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ENST00000262878
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SAMHD1-001 ENSP00000262878
ENST00000262878
Q9Y3Z3
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