SARM1 (sterile alpha and TIR motif containing 1)

2014-11-01  

Identity

HGNC
SARM1
LOCATION
17q11.2
LOCUSID
23098
ALIAS
HsTIR,MyD88-5,SAMD2,SARM,hSARM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23098
MIM: 607732
HGNC: 17074
Ensembl: ENSG00000004139

Variants:

dbSNP: 23098
ClinVar: 23098
TCGA: ENSG00000004139
COSMIC: SARM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004139ENST00000578128J3KSG7
ENSG00000004139ENST00000579593J3KRZ6
ENSG00000004139ENST00000582323J3QRE0
ENSG00000004139ENST00000585482Q6SZW1

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilonREACTOMER-HSA-936964
IKK complex recruitment mediated by RIP1REACTOMER-HSA-937041
TRAF6 mediated induction of TAK1 complexREACTOMER-HSA-937072
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
169642622006The human adaptor SARM negatively regulates adaptor protein TRIF-dependent Toll-like receptor signaling.147
248408022014Wallerian degeneration: an emerging axon death pathway linking injury and disease.143
268448292016Axon Self-Destruction: New Links among SARM1, MAPKs, and NAD+ Metabolism.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
178044072007Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex.52
203064722010SARM inhibits both TRIF- and MyD88-mediated AP-1 activation.33
231751862013T-cell death following immune activation is mediated by mitochondria-localized SARM.25
221458562012Targeting of pro-apoptotic TLR adaptor SARM to mitochondria: definition of the critical region and residues in the signal sequence.21
276716442016SARM1-specific motifs in the TIR domain enable NAD+ loss and regulate injury-induced SARM1 activation.20
238851192013SARM1 and TRAF6 bind to and stabilize PINK1 on depolarized mitochondria.17

Citation

Dessen P

SARM1 (sterile alpha and TIR motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72981/sarm1