Smpdl3a sphingomyelin phosphodiesterase, acid-like 3A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smpdl3aprovided by MGI
Official Full Name: sphingomyelin phosphodiesterase, acid-like 3Aprovided by MGI
Primary source: MGI:MGI:1931437
See related: Ensembl:ENSMUSG00000019872 AllianceGenome:MGI:1931437
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ASM3A; ASML3; ASML3A; 0610010C24Rik
Summary: Predicted to enable phosphoric diester hydrolase activity and zinc ion binding activity. Involved in negative regulation of cGAS/STING signaling pathway. Located in extracellular space. Is expressed in cerebral cortex ventricular layer; ovary; and ureteric tip. Orthologous to human SMPDL3A (sphingomyelin phosphodiesterase acid like 3A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in kidney adult (RPKM 174.4), colon adult (RPKM 128.9) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 29.25 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (57670640..57687926)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (57794544..57811830)

Chromosome 10 - NC_000076.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The structural basis for SMPDL3A substrate specificity resolve by X-ray crystallography.
Title: Structural Basis for Nucleotide Hydrolysis by the Acid Sphingomyelinase-like Phosphodiesterase SMPDL3A.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI529588 (e-PCR)
- UniSTS:165691

NoName (e-PCR)
- UniSTS:236354

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables phosphoric diester hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphoric diester hydrolase activity	ISO Inferred from Sequence Orthology more info
enables phosphoric diester hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
NOT enables sphingomyelin phosphodiesterase activity	ISS Inferred from Sequence or Structural Similarity more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cGAS/STING signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleoside triphosphate catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nucleoside triphosphate catabolic process	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in sphingomyelin catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cyclic GMP-AMP phosphodiesterase SMPDL3A

Names: 2',3'-cGAMP phosphodiesterase SMPDL3A; ASM-like phosphodiesterase 3a; acid sphingomyelinase-like phosphodiesterase 3a

NP_065586.3

EC 3.6.1.15

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_020561.2 → NP_065586.3 cyclic GMP-AMP phosphodiesterase SMPDL3A precursor

See identical proteins and their annotated locations for NP_065586.3

Status: VALIDATED

Source sequence(s)

AC168055, AK151683

Consensus CDS

CCDS23857.1

UniProtKB/Swiss-Prot

P70158, Q3U8C2

Related

ENSMUSP00000020022.8, ENSMUST00000020022.8

Conserved Domains (2) summary

cd00842
Location:37 → 333

MPP_ASMase; acid sphingomyelinase and related proteins, metallophosphatase domain

pfam00149
Location:73 → 294

Metallophos; Calcineurin-like phosphoesterase