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    SARM1 sterile alpha and TIR motif containing 1 [ Homo sapiens (human) ]

    Gene ID: 23098, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SARM1provided by HGNC
    Official Full Name
    sterile alpha and TIR motif containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17074
    See related
    Ensembl:ENSG00000004139 MIM:607732; AllianceGenome:HGNC:17074
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SARM; HsTIR; SAMD2; hSARM1; MyD88-5
    Summary
    Enables NAD+ nucleosidase activity; NAD+ nucleotidase, cyclic ADP-ribose generating; and identical protein binding activity. Involved in NAD catabolic process and response to axon injury. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 30.5), small intestine (RPKM 14.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SARM1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28371694..28404049)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29313546..29345902)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26698715..26731067)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 199 Neighboring gene SEBOX homeobox Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8338 Neighboring gene vitronectin Neighboring gene MPRA-validated peak2778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26722700-26723383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26724067-26724750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11926 Neighboring gene solute carrier family 46 member 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:26729147-26729889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26731519-26732244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:26735385-26736225 Neighboring gene uncharacterized LOC124903964 Neighboring gene H3 histone pseudogene 41

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Initial Kinetic Characterization of Sterile Alpha and Toll/Interleukin Receptor Motif-Containing Protein 1. Loring HS, et al. Biochemistry, 2020 Mar 3. PMID 32049506, Free PMC Article
    2. SARM1 is required in human derived sensory neurons for injury-induced and neurotoxic axon degeneration. Chen YH, et al. Exp Neurol, 2021 May. PMID 33548217, Free PMC Article
    3. Structural basis for SARM1 inhibition and activation under energetic stress. Sporny M, et al. Elife, 2020 Nov 13. PMID 33185189, Free PMC Article
    4. Acidic pH irreversibly activates the signaling enzyme SARM1. Zhao YJ, et al. FEBS J, 2021 Dec. PMID 34213829
    5. SARM1-mediated wallerian degeneration: A possible mechanism underlying organophosphorus-induced delayed neuropathy. Song M, et al. Med Hypotheses, 2021 Oct. PMID 34455132

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Augustus Waller's foresight realized: SARM1 in peripheral neuropathies.
      Title: Augustus Waller's foresight realized: SARM1 in peripheral neuropathies.
    2. Context-Specific Stress Causes Compartmentalized SARM1 Activation and Local Degeneration in Cortical Neurons.
      Title: Context-Specific Stress Causes Compartmentalized SARM1 Activation and Local Degeneration in Cortical Neurons.
    3. The SARM1 TIR domain produces glycocyclic ADPR molecules as minor products.
      Title: The SARM1 TIR domain produces glycocyclic ADPR molecules as minor products.
    4. A phase transition reduces the threshold for nicotinamide mononucleotide-based activation of SARM1, an NAD(P) hydrolase, to physiologically relevant levels.
      Title: A phase transition reduces the threshold for nicotinamide mononucleotide-based activation of SARM1, an NAD(P) hydrolase, to physiologically relevant levels.
    5. TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
      Title: TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
    6. The curious case of SARM1: Dr. Jekyll and Mr. Hyde in cell death and immunity?
      Title: The curious case of SARM1: Dr. Jekyll and Mr. Hyde in cell death and immunity?
    7. Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival.
      Title: Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival.
    8. Circ_0044516 Enriches the Level of SARM1 as a miR-330-5p Sponge to Regulate Cell Malignant Behaviors and Tumorigenesis of Prostate Cancer.
      Title: Circ_0044516 Enriches the Level of SARM1 as a miR-330-5p Sponge to Regulate Cell Malignant Behaviors and Tumorigenesis of Prostate Cancer.
    9. TLR4 and SARM1 modulate survival and chemoresistance in an HPV-positive cervical cancer cell line.
      Title: TLR4 and SARM1 modulate survival and chemoresistance in an HPV-positive cervical cancer cell line.
    10. Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients.
      Title: Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36296, FLJ57960, KIAA0524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ nucleosidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+ nucleotidase, cyclic ADP-ribose generating IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NADP+ nucleosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in NAD catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of MyD88-independent toll-like receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synapse pruning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to axon injury IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extrinsic component of synaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    NAD(+) hydrolase SARM1
    Names
    NADP(+) hydrolase SARM1
    NADase SARM1
    SAM domain-containing protein 2
    sterile alpha and Armadillo repeat protein
    sterile alpha and HEAT/Armadillo motif protein, ortholog of Drosophila
    sterile alpha and TIR motif-containing protein 1
    sterile alpha motif domain-containing protein 2
    tir-1 homolog
    NP_055892.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015077.4 → NP_055892.2  NAD(+) hydrolase SARM1 precursor

      See identical proteins and their annotated locations for NP_055892.2

      Status: VALIDATED

      Source sequence(s)
      AB011096, AC015917, AK314609, BC040429, BC122860, BG820141
      Consensus CDS
      CCDS11230.2
      UniProtKB/Swiss-Prot
      O60277, Q6SZW1, Q7LGG3, Q9NXY5
      UniProtKB/TrEMBL
      Q0D2N8
      Related
      ENSP00000468032.2, ENST00000585482.6
      Conserved Domains (3) summary
      cd09501
      Location:409 → 477
      SAM_SARM1-like_repeat1; SAM domain ot SARM1-like proteins, repeat 1
      cd09502
      Location:478 → 547
      SAM_SARM1-like_repeat2; SAM domain of SARM1-like, repeat 2
      smart00255
      Location:561 → 702
      TIR; Toll - interleukin 1 - resistance

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28371694..28404049
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29313546..29345902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6SZW1.1 GenPept UniProtKB/Swiss-Prot:Q6SZW1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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