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

Gene ID: 23098, updated on 11-Apr-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+ nucleotidase, cyclic ADP-ribose generating and identical protein binding activity. Involved in NAD catabolic process; positive regulation of neuron death; and response to axon injury. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 30.5), small intestine (RPKM 14.6) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28371694..28404049)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29313546..29345902)
105.20220307 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. TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration. Czech VL, et al. Elife, 2023 Apr 21. PMID 37083456, Free PMC Article
  2. Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival. Ademi M, et al. Sci Rep, 2022 Aug 16. PMID 35974060, Free PMC Article
  3. SARM1 can be a potential therapeutic target for spinal cord injury. Lu Q, et al. Cell Mol Life Sci, 2022 Feb 28. PMID 35224705
  4. Sarm1 activation produces cADPR to increase intra-axonal Ca++ and promote axon degeneration in PIPN. Li Y, et al. J Cell Biol, 2022 Feb 7. PMID 34935867, Free PMC Article
  5. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Gilley J, et al. Elife, 2021 Nov 19. PMID 34796871, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
    Title: TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
  3. 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?
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
    Title: Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
  9. SARM1 can be a potential therapeutic target for spinal cord injury.
    Title: SARM1 can be a potential therapeutic target for spinal cord injury.
  10. Sarm1 activation produces cADPR to increase intra-axonal Ca++ and promote axon degeneration in PIPN.
    Title: Sarm1 activation produces cADPR to increase intra-axonal Ca++ and promote axon degeneration in PIPN.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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)

Genotypes

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 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 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 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 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 IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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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