C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: sphingomyelin phosphodiesterase 1, acid lysosomal
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000166311 SMPD1 9606 + 11:6390431-6394998 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000342245 SMPD1-001 6390431-6394995 protein_coding
  ENST00000526280 SMPD1-004 6391877-6394998 protein_coding
  ENST00000527275 SMPD1-008 6390475-6394778 protein_coding
  ENST00000530395 SMPD1-009 6390446-6392042 protein_coding
  ENST00000531303 SMPD1-003 6390582-6394778 nonsense_mediated_decay
  ENST00000531336 SMPD1-006 6393293-6394373 retained_intron
  ENST00000532367 SMPD1-005 6393518-6394128 retained_intron
  ENST00000533123 SMPD1-002 6390503-6394998 nonsense_mediated_decay
  ENST00000533196 SMPD1-010 6390440-6392056 processed_transcript
  ENST00000534405 SMPD1-007 6390473-6394991 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000342245ENST00000526280ENST00000527275ENST00000531303ENST00000531336ENST00000533123ENST00000534405
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000342245 7.480±0.00 8.963±0.00 1.860±0.00 8.753±4.54 3.148±2.06 0.861±0.00 7.042±5.56 17.162±8.90 18.292±16.27 7.327±0.00 5.524±3.44 9.294±7.22 28.036±12.13 0.798±0.00
ENST00000526280 N/A 5.455±0.00 N/A 6.786±0.00 N/A N/A N/A 32.298±0.00 N/A N/A N/A N/A N/A N/A
ENST00000527275 N/A N/A 1.379±0.00 N/A N/A 1.549±0.00 N/A N/A N/A 1.418±0.00 N/A 1.237±0.46 N/A N/A
ENST00000531303 N/A N/A N/A N/A 0.574±0.00 0.676±0.00 1.146±0.00 N/A 0.748±0.00 N/A N/A 2.316±0.00 N/A 1.030±0.00
ENST00000531336 N/A N/A N/A 8.263±0.00 N/A N/A N/A N/A N/A N/A N/A 5.601±0.00 12.445±0.00 1.249±0.00
ENST00000533123 3.326±0.00 N/A N/A N/A 4.920±0.00 4.357±0.00 N/A N/A N/A N/A N/A N/A N/A 3.147±0.00
ENST00000534405 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 4.453±0.00 N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00079D CIL_00079D_0001 CGP 11:6318946-6394998
CIL_0004AE CIL_0004AE_0001 CGP 11:6390431-6419414

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004767 IEA sphingomyelin phosphodiesterase activity
GO:0005515 IPI protein binding
GO:0005615 IEA extracellular space
GO:0006665 TAS sphingolipid metabolic process
GO:0006684 TAS sphingomyelin metabolic process
GO:0006685 IEA sphingomyelin catabolic process
GO:0006687 TAS glycosphingolipid metabolic process
GO:0007165 TAS signal transduction
GO:0007399 TAS nervous system development
GO:0008152 IEA metabolic process
GO:0008219 IEA cell death
GO:0016787 IEA hydrolase activity
GO:0016798 IEA hydrolase activity, acting on glycosyl bonds
GO:0023021 IMP termination of signal transduction
GO:0035307 IMP positive regulation of protein dephosphorylation
GO:0042220 IEA response to cocaine
GO:0042493 IEA response to drug
GO:0042599 IEA lamellar body
GO:0043065 IEA positive regulation of apoptotic process
GO:0043202 TAS lysosomal lumen
GO:0043407 IMP negative regulation of MAP kinase activity
GO:0044281 TAS small molecule metabolic process
GO:0046513 IMP ceramide biosynthetic process
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000076121 smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal protein_coding Danio_rerio
ENSMUSG00000037049 Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal protein_coding Mus_musculus

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