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

Gene ID: 23098, updated on 17-Jun-2019

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
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; SAMD2; MyD88-5
Expression
Ubiquitous expression in duodenum (RPKM 30.5), small intestine (RPKM 14.6) and 23 other tissues See more
Orthologs

Genomic context

See SARM1 in Genome Data Viewer
Location:
17q11.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28371694..28404049)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26698683..26728062)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SEBOX homeobox Neighboring gene vitronectin Neighboring gene solute carrier family 46 member 1 Neighboring gene H3 histone, family 3B pseudogene 2 Neighboring gene RAP1A, member of RAS oncogene family pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
    Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
  • Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon, organism-specific biosystem (from REACTOME)
    Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon, organism-specific biosystemCell stimulation with viral ds RNA leads to the activation of two IKK-related serine/threonine kinases, TBK1 and IKK-i which directly phosphorylate IRF3 and IRF7 promoting their dimerization and tran...
  • IKK complex recruitment mediated by RIP1, organism-specific biosystem (from REACTOME)
    IKK complex recruitment mediated by RIP1, organism-specific biosystemReceptor-interacting protein 1 (RIP1) mediates the activation of proinflammatory cytokines via intermediate induction of IKK complex in NFkB pathways [Ea et al. 2006]. Poly(I-C) treatment stimulated ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • MyD88-independent TLR3/TLR4 cascade, organism-specific biosystem (from REACTOME)
    MyD88-independent TLR3/TLR4 cascade, organism-specific biosystemMyD88-independent signaling pathway is shared by TLR3 and TLR4 cascades. TIR-domain-containing adapter-inducing interferon-beta (TRIF or TICAM1) is a key adapter molecule in transducing signals from ...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • TRAF6 mediated induction of TAK1 complex, organism-specific biosystem (from REACTOME)
    TRAF6 mediated induction of TAK1 complex, organism-specific biosystemIn human, together with ubiquitin-conjugating E2-type enzymes UBC13 and UEV1A (also known as UBE2V1), TRAF6 catalyses Lys63-linked ubiquitination. It is believed that auto polyubiquitination and oli...
  • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
    TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystemTRIF(TICAM1) was shown to induce IRF3/7 and NF-?B activation and apoptosis through distinct intracellular signaling pathways [Han KJ et al 2004; Kaiser WJ and Offermann MK et al 2005]. TRIF consists...
  • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystemToll-like receptor 3 (TLR3) as was shown for mammals is expressed on myeloid dendritic cells, respiratory epithelium, macrophages, and appears to play a central role in mediating the antiviral and in...
  • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36296, FLJ57960, KIAA0524

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling adaptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of MyD88-independent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic component of mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sterile alpha and TIR motif-containing protein 1
Names
SAM domain-containing protein 2
sterile alpha and Armadillo repeat protein
sterile alpha and HEAT/Armadillo motif protein, ortholog of Drosophila
sterile alpha motif domain-containing protein 2
tir-1 homolog

NCBI Reference Sequences (RefSeq)

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_015077.4NP_055892.2  sterile alpha and TIR motif-containing protein 1 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
    Q6SZW1
    UniProtKB/TrEMBL
    Q05B42, Q0D2N8
    Related
    ENSP00000468032.2, ENST00000585482.6
    Conserved Domains (3) summary
    cd09501
    Location:409477
    SAM_SARM1-like_repeat1; SAM domain ot SARM1-like proteins, repeat 1
    cd09502
    Location:478547
    SAM_SARM1-like_repeat2; SAM domain of SARM1-like, repeat 2
    smart00255
    Location:561702
    TIR; Toll - interleukin 1 - resistance

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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