Gene Gene information from NCBI Gene database.
Entrez ID 23098
Gene name Sterile alpha and TIR motif containing 1
Gene symbol SARM1
Synonyms (NCBI Gene)
HsTIRMyD88-5SAMD2SARMhSARM1
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
417
miRTarBase ID miRNA Experiments Reference
MIRT716214 hsa-miR-1295b-5p HITS-CLIP 19536157
MIRT716213 hsa-miR-1912 HITS-CLIP 19536157
MIRT716212 hsa-miR-3130-5p HITS-CLIP 19536157
MIRT716211 hsa-miR-4482-5p HITS-CLIP 19536157
MIRT716210 hsa-miR-4714-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003953 Function NAD+ nucleosidase activity IDA 28334607, 31128467, 31439792, 31439793, 32049506, 32828421, 33053563
GO:0003953 Function NAD+ nucleosidase activity IEA
GO:0005515 Function Protein binding IPI 17258210, 26592460
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607732 17074 ENSG00000004139
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6SZW1
Protein name NAD(+) hydrolase SARM1 (NADase SARM1) (hSARM1) (EC 3.2.2.6) (NADP(+) hydrolase SARM1) (EC 3.2.2.-) (Sterile alpha and Armadillo repeat protein) (Sterile alpha and TIR motif-containing protein 1) (Sterile alpha motif domain-containing protein 2) (MyD88-5)
Protein function NAD(+) hydrolase, which plays a key role in axonal degeneration following injury by regulating NAD(+) metabolism (PubMed:25908823, PubMed:27671644, PubMed:28334607). Acts as a negative regulator of MYD88- and TRIF-dependent toll-like receptor si
PDB 6O0Q , 6O0R , 6O0S , 6O0T , 6O0U , 6O0V , 6O1B , 6QWV , 6WPK , 6ZFX , 6ZG0 , 6ZG1 , 7ANW , 7CM5 , 7CM6 , 7CM7 , 7DJT , 7KNQ , 7LD0 , 7NAG , 7NAH , 7NAI , 7NAJ , 7NAK , 7NAL , 7QG0 , 8D0C , 8D0D , 8D0E , 8D0F , 8D0G , 8D0H , 8D0I , 8D0J , 8GNI , 8GNJ , 8GQ5 , 8P2L , 9L2D , 9L2E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07647 SAM_2 409 474 SAM domain (Sterile alpha motif) Domain
PF07647 SAM_2 479 546 SAM domain (Sterile alpha motif) Domain
PF13676 TIR_2 564 696 TIR domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain, kidney and liver. Expressed at lower level in placenta. {ECO:0000269|PubMed:11386760, ECO:0000269|PubMed:17724133}.
Sequence
MVLTLLLSAYKLCRFFAMSGPRPGAERLAVPGPDGGGGTGPWWAAGGRGPREVSPGAGTE
VQDALERALPELQQALSALKQAGGARAVGAGLAEVFQLVEEAWLLPAVGREVAQGLCDAI
RLDGGLDLLLRLLQAPELETRVQAARLLEQILVAENRDRVARIGLGVILNLAKEREPVEL
ARSVAGILEHMFKHSEETCQRLVAAGGLDAVLYWCRRTDPALLRHCALALGNCALHGGQA
VQRRMVEKRAAEWLFPLAFSKEDELLRLHACLAVAVLATNKEVEREVERSGTLALVEPLV
ASLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQG
KTKVFSDIGAIQSLKRLVSYSTNGTKSALAKRALRLLGEEVPRPILPSVPSWKEAEVQTW
LQQIGFSKYCESFREQQVDGDLLLRLTEEELQTDLGMKSGITRKRFFRELTELK
TFANYS
TCDRSNLADWLGSLDPRFRQYTYGLVSCGLDRSLLHRVSEQQLLEDCGIHLGVHRARILT
AAREML
HSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEA
GKFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGF
EWPEPQVLPEDMQAVLTFNGIKWSHEYQEATIEKII
RFLQGRSSRDSSAGSDTSLEGAAP
MGPT
Sequence length 724
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
  MyD88-independent TLR4 cascade
Toll Like Receptor 3 (TLR3) Cascade
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
IKK complex recruitment mediated by RIP1
TRAF6-mediated induction of TAK1 complex within TLR4 complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis Uncertain significance ClinVar
Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
FOLATE MALABSORPTION, HEREDITARY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 32413284
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Associate 32413284, 36759259, 37639066
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Arthritis Rheumatoid Associate 33605409
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Inhibit 31813753
★☆☆☆☆
Found in Text Mining only
Heredodegenerative Disorders Nervous System Associate 33548217
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 23923041
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Stimulate 32428870
★☆☆☆☆
Found in Text Mining only
Nerve Degeneration Associate 30333228, 32413284, 33548217
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 30333228, 32828421
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Associate 30333228
★☆☆☆☆
Found in Text Mining only