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

Summary

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, Dec 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Augustus Waller's foresight realized: SARM1 in peripheral neuropathies.
Title: Augustus Waller's foresight realized: SARM1 in peripheral neuropathies.
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.
The SARM1 TIR domain produces glycocyclic ADPR molecules as minor products.
Title: The SARM1 TIR domain produces glycocyclic ADPR molecules as minor products.
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.
TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
Title: TIR-1/SARM1 inhibits axon regeneration and promotes axon degeneration.
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?
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SARM1__5545 (e-PCR)
- UniSTS:463884

RH11530 (e-PCR)
- UniSTS:90701

RH12566 (e-PCR)
- UniSTS:87648

SHGC-30073 (e-PCR)
- UniSTS:81793

RH39314 (e-PCR)
- UniSTS:91818

SHGC-57890 (e-PCR)
- UniSTS:74184

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 more info	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

EC 3.2.2.6

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)

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