SMPDL3A - sphingomyelin phosphodiesterase acid like 3A Gene

Also Known as ASM3A; ASML3a; yR36GH4.1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 10924

About SMPDL3A

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:122,789,258-122,809,720 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in colon (RPKM 18.5), small intestine (RPKM 18.4) and 25 other tissues.

Summary

Enables phosphoric diester hydrolase activity and zinc ion binding activity. Involved in nucleoside triphosphate catabolic process. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

SMPDL3A Products (2)

mRNA Protein Name
NM_001286138.2 NP_001273067.1 acid sphingomyelinase-like phosphodiesterase 3a isoform b
NM_006714.5 NP_006705.1 acid sphingomyelinase-like phosphodiesterase 3a isoform a precursor
Molecular Function GO Annotation Evidence 参考文献 由来
enables phosphoric diester hydrolase activity IDA
IDA: Inferred from direct assay
26783088 GOA
enables phosphoric diester hydrolase activity IMP
IMP: Inferred from mutant phenotype
37890481 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12442002 GOA
NOT enables sphingomyelin phosphodiesterase activity IDA
IDA: Inferred from direct assay
26783088 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
26783088 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in negative regulation of cGAS/STING signaling pathway IMP
IMP: Inferred from mutant phenotype
37890481 GOA
involved in nucleoside triphosphate catabolic process IDA
IDA: Inferred from direct assay
26783088 GOA
NOT involved in sphingomyelin catabolic process IDA
IDA: Inferred from direct assay
26783088 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
is active in extracellular space IDA
IDA: Inferred from direct assay
28104755 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
25288789 GOA
is active in extracellular space IMP
IMP: Inferred from mutant phenotype
37890481 GOA
located in extracellular space IMP
IMP: Inferred from mutant phenotype
26783088 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMPDL3A Protein Structure

Metallophos

Metallophos: Calcineurin-like phosphoesterase (40 - 296)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 453 a.a.
Protein Preferred Names Protein Names

acid sphingomyelinase-like phosphodiesterase 3a

  • 0610010C24Rik

Recombinant SMPDL3A Proteins

製品番号 製品名 アクセッション番号 純度
HY-P71325 SMPDL3A Protein, Human (HEK293, His) Q92484-1 (L23-Y453) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
Polycystic Echinococcosis
  • Human Polycystic Hydatid Disease

  • Neotropical Echinococcosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus SMPDL3A RGD RGD:1359277
Bos taurus SMPDL3A VGNC VGNC:35033
Felis catus SMPDL3A VGNC VGNC:65504
Mus musculus SMPDL3A MGD MGI:1931437
Macaca mulatta SMPDL3A VGNC VGNC:77731
Canis familiaris SMPDL3A VGNC VGNC:46573
Others SMPDL3A NCBI