Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23098
Gene name Gene Name - the full gene name approved by the HGNC.
Sterile alpha and TIR motif containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SARM1
Synonyms (NCBI Gene) Gene synonyms aliases
HsTIR, MyD88-5, SAMD2, SARM, hSARM1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003953 Function NAD+ nucleosidase activity IDA 28334607, 31128467, 31439792, 31439793
GO:0005515 Function Protein binding IPI 17258210, 26592460
GO:0005737 Component Cytoplasm ISS
GO:0005739 Component Mitochondrion IDA 22145856
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607732 17074 ENSG00000004139
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
27455348, 28931804
Congenital defect of folate absorption Folate Malabsorption, Hereditary rs80338775, rs80338769, rs80338770, rs80338772, rs80338773, rs80338774, rs397515574, rs397515391, rs281875209, rs1597834560
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 28931804
Unknown
Disease term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Giant Cell Arteritis Giant Cell Arteritis GWAS
Diabetes Diabetes GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 32413284
Amyotrophic Lateral Sclerosis Associate 32413284, 36759259, 37639066
Arthritis Rheumatoid Associate 33605409
Cystic Fibrosis Inhibit 31813753
Heredodegenerative Disorders Nervous System Associate 33548217
Inflammation Associate 23923041
Neoplasm Metastasis Stimulate 32428870
Nerve Degeneration Associate 30333228, 32413284, 33548217
Neurodegenerative Diseases Associate 30333228, 32828421
Parkinson Disease Associate 30333228