• Gene id: 23098

Gene Summary

• Gene Symbol: SARM1   Gene   UCSC   Ensembl
• Aliases: HsTIR, MyD88-5, SAMD2, SARM, hSARM1
• Gene name: sterile alpha and TIR motif containing 1
• Alternate names: NAD(+) hydrolase SARM1, 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, ,
• Gene location: 17q11.2 (28371693: 28404048)     Exons: 9     NC_000017.11
• OMIM: 607732

Protein Summary

• Protein general information: Q6SZW1  
  • 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)
  • Length: 724  
  • Mass: 79388
  • Tissue specificity: Predominantly expressed in brain, kidney and liver. Expressed at lower level in placenta. {ECO
• Sequence:

  MVLTLLLSAYKLCRFFAMSGPRPGAERLAVPGPDGGGGTGPWWAAGGRGPREVSPGAGTEVQDALERALPELQQA
  LSALKQAGGARAVGAGLAEVFQLVEEAWLLPAVGREVAQGLCDAIRLDGGLDLLLRLLQAPELETRVQAARLLEQ
  ILVAENRDRVARIGLGVILNLAKEREPVELARSVAGILEHMFKHSEETCQRLVAAGGLDAVLYWCRRTDPALLRH
  CALALGNCALHGGQAVQRRMVEKRAAEWLFPLAFSKEDELLRLHACLAVAVLATNKEVEREVERSGTLALVEPLV
  ASLDPGRFARCLVDASDTSQGRGPDDLQRLVPLLDSNRLEAQCIGAFYLCAEAAIKSLQGKTKVFSDIGAIQSLK
  RLVSYSTNGTKSALAKRALRLLGEEVPRPILPSVPSWKEAEVQTWLQQIGFSKYCESFREQQVDGDLLLRLTEEE
  LQTDLGMKSGITRKRFFRELTELKTFANYSTCDRSNLADWLGSLDPRFRQYTYGLVSCGLDRSLLHRVSEQQLLE
  DCGIHLGVHRARILTAAREMLHSPLPCTGGKPSGDTPDVFISYRRNSGSQLASLLKVHLQLHGFSVFIDVEKLEA
  GKFEDKLIQSVMGARNFVLVLSPGALDKCMQDHDCKDWVHKEIVTALSCGKNIVPIIDGFEWPEPQVLPEDMQAV
  LTFNGIKWSHEYQEATIEKIIRFLQGRSSRDSSAGSDTSLEGAAPMGPT

• Structural information:
  • Protein Domains: (412..47-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (486..54-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (560..70-)
    (/note="TIR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00204"-)
  • Interpro: IPR011989  IPR016024  IPR001660  IPR013761  IPR039184   IPR000157  IPR035897  
  • Prosite: PS50105 PS50104
  • PDB: 6O0Q 6O0R 6O0S 6O0T 6O0U 6O0V 6O1B 6QWV
  • PDBsum: 6O0Q 6O0R 6O0S 6O0T 6O0U 6O0V 6O1B 6QWV
  • STRING: ENSP00000468032
• Other Databases: GeneCards:  SARM1  Malacards:  SARM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901214	regulation of neuron death	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0003953	NAD+ nucleosidase activity	IDA	molecular function
GO:0003953	NAD+ nucleosidase activity	IDA	molecular function
GO:0003953	NAD+ nucleosidase activity	IDA	molecular function
GO:0003953	NAD+ nucleosidase activity	IDA	molecular function
GO:0048678	response to axon injury	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0019677	NAD catabolic process	IDA	biological process
GO:0019677	NAD catabolic process	IDA	biological process
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IDA	molecular function
GO:1901216	positive regulation of neuron death	IDA	biological process
GO:0019677	NAD catabolic process	IDA	biological process
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IDA	molecular function
GO:0019677	NAD catabolic process	IDA	biological process
GO:0019677	NAD catabolic process	IDA	biological process
GO:0019677	NAD catabolic process	IDA	biological process
GO:1901216	positive regulation of neuron death	IDA	biological process
GO:1901216	positive regulation of neuron death	IDA	biological process
GO:0030425	dendrite	ISS	cellular component
GO:1901214	regulation of neuron death	ISS	biological process
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0005874	microtubule	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0034128	negative regulation of MyD88-independent toll-like receptor signaling pathway	IEA	biological process
GO:0035591	signaling adaptor activity	IEA	molecular function
GO:0048678	response to axon injury	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034128	negative regulation of MyD88-independent toll-like receptor signaling pathway	TAS	biological process
GO:0034128	negative regulation of MyD88-independent toll-like receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031315	extrinsic component of mitochondrial outer membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0009749	response to glucose	IEA	biological process
GO:0003953	NAD+ nucleosidase activity	IEA	molecular function
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:1901214	regulation of neuron death	IEA	biological process
GO:0048814	regulation of dendrite morphogenesis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0019677	NAD catabolic process	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray