SGPL1 - sphingosine-1-phosphate lyase 1 Gene

Also Known as SPL; S1PL; NPHS14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8879

About SGPL1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,815,948-70,881,184 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in urinary bladder (RPKM 14.9), skin (RPKM 13.8) and 25 other tissues.

Summary

Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022]

SGPL1 Products (1)

mRNA Protein Name
NM_003901.4 NP_003892.2 sphingosine-1-phosphate lyase 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21903422 GOA
enables sphinganine-1-phosphate aldolase activity IDA
IDA: Inferred from direct assay
14570870 GOA
enables sphinganine-1-phosphate aldolase activity IMP
IMP: Inferred from mutant phenotype
28165339 GOA
Biological Process GO Annotation Evidence References Source
involved in apoptotic signaling pathway IDA
IDA: Inferred from direct assay
14570870 GOA
involved in ceramide metabolic process IDA
IDA: Inferred from direct assay
14570870 GOA
involved in fatty acid metabolic process IDA
IDA: Inferred from direct assay
24809814 GOA
involved in sphingolipid catabolic process IDA
IDA: Inferred from direct assay
24809814 GOA
involved in sphingolipid catabolic process IMP
IMP: Inferred from mutant phenotype
28165339 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
14570870 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

SGPL1 Protein Structure

Pyridoxal_deC

Pyridoxal_deC: Pyridoxal-dependent decarboxylase conserved domain (196 - 451)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 568 a.a.
Protein Preferred Names Protein Names

sphingosine-1-phosphate lyase 1

  • SP-lyase 1

SGPL1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SGPL1 O95470 RTP2 Homo sapiens Q5QGT7 32296183
Intra
SGPL1 O95470 CCL4L1 Homo sapiens Q8NHW4 32296183
Intra
SGPL1 O95470 SLC30A3 Homo sapiens Q99726 32296183
Intra
SGPL1 O95470 TMEM242 Homo sapiens Q9NWH2 32296183
Intra
SGPL1 O95470 PAQR5 Homo sapiens Q9NXK6 32296183
Intra
SGPL1 O95470 PAQR5 Homo sapiens Q9NXK6 32296183
Intra
SGPL1 O95470 PLPP4 Homo sapiens Q5VZY2 32296183
Intra
SGPL1 O95470 PLPP4 Homo sapiens Q5VZY2 32296183
Intra
SGPL1 O95470 FA2H Homo sapiens Q7L5A8 32296183
Intra
SGPL1 O95470 TMEM97 Homo sapiens Q5BJF2 32296183
Intra
SGPL1 O95470 FXYD3 Homo sapiens Q14802-3 32296183
Intra
SGPL1 O95470 FAM177A1 Homo sapiens Q8N128-2 32296183
Intra
SGPL1 O95470 BRICD5 Homo sapiens Q6PL45-2 32296183
Intra
SGPL1 O95470 CLDN19 Homo sapiens Q8N6F1-2 32296183
Intra
SGPL1 O95470 RNASE10 Homo sapiens Q5GAN6 32296183
Intra
SGPL1 O95470 MMD2 Homo sapiens Q8IY49-2 32296183
Intra
SGPL1 O95470 EFNA5 Homo sapiens P52803 32296183
Intra
SGPL1 O95470 MARCHF5 Homo sapiens Q9NX47 32296183
Intra
SGPL1 O95470 SCAMP5 Homo sapiens Q8TAC9 32296183
Intra
SGPL1 O95470 TMEM176A Homo sapiens Q96HP8 32296183
Intra
SGPL1 O95470 AQP3 Homo sapiens Q92482 32296183
Intra
SGPL1 O95470 MFSD6 Homo sapiens Q6ZSS7 32296183
Intra
SGPL1 O95470 PLP2 Homo sapiens Q04941 32296183
Intra
SGPL1 O95470 BCL2L2 Homo sapiens Q92843 32296183
Intra
SGPL1 O95470 ERG28 Homo sapiens Q9UKR5 32296183
Intra
SGPL1 O95470 HMOX2 Homo sapiens P30519 32296183
Intra
SGPL1 O95470 STX8 Homo sapiens Q9UNK0 32296183
Intra
SGPL1 O95470 STATH Homo sapiens P02808 32296183
Intra
SGPL1 O95470 STX4 Homo sapiens Q12846 32296183
Intra
SGPL1 O95470 UNC50 Homo sapiens Q53HI1 32296183
Intra
SGPL1 O95470 IFITM3 Homo sapiens Q01628 32296183
Intra
SGPL1 O95470 MIP Homo sapiens P30301 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 14
  • Sphingosine Phosphate Lyase Insufficiency Syndrome

  • Nephrotic Syndrome 14

  • NPHS14

  • Splis

  • Nephrotic Syndrome Type 14

  • Sgpl1 Deficiency

  • Steroid-Resistant Nephrotic Syndrome Type 14

  • Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

  • Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

Focal Segmental Glomerulosclerosis
  • Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

  • Focal Glomerulosclerosis

  • Fsgs

  • Segmental Glomerulosclerosis

  • Glomerulosclerosis, Focal Segmental

  • Fgs

  • Focal Glomerular Sclerosis

  • Familial Idiopathic Nephrotic Syndrome

  • Focal Sclerosis With Hyalinosis

  • Glomerulosclerosis, Focal

  • Glomerulosclerosis Focal

  • Glomerulosclerosis, Segmental, Focal

  • Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Niemann-Pick Disease, Type B
  • Niemann-Pick Disease Type B

  • Acid Sphingomyelinase Deficiency, Visceral Type

  • Asmd, Visceral Type

  • Niemann Pick Disease Type B

  • Chronic Visceral Acid Sphingomyelinase Deficiency

  • Chronic Visceral Asmd

  • Npd-B

  • Niemann-Pick Disease B

  • NPDB

  • Niemann-Pick Disease Adult Non-Neuronopathic Form

  • Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

  • Niemann-Pick Disease Type E

  • Niemann-Pick Disease Type F

  • Niemann-Pick Disease Type I

  • Niemann-Pick Disease Visceral Form

  • Npb

  • Sphingomyelinase Deficiency

  • Sphingomyelin Lipidosis

  • Niemann-Picks Disease Type B

  • Niemann-Pick Disease, Type E

  • Niemann-Pick Diseases

  • Niemann-Pick Disease, Type A

Achalasia-Addisonianism-Alacrima Syndrome
  • Allgrove Syndrome

  • Triple-A Syndrome

  • Achalasia-Addisonianism-Alacrimia Syndrome

  • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

  • Triple A Syndrome

  • Aaa Syndrome

  • AAAS

  • Glucocorticoid Deficiency With Achalasia

  • Glucocorticoid Deficiency And Achalasia

  • Addisonian-Achalasia Syndrome

  • Hypoadrenalism With Achalasia

  • Alacrima-Achalasia-Addisonianism

  • Aaa

  • Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

  • Achalasia Addisonianism Alacrimia Syndrome

  • Achalasia Alacrima Syndrome

  • Addisonian Achalasia Syndrome

  • Achalasia-Addisonian Syndrome

  • Achalasia-Alacrima Syndrome

  • 2a Syndrome

  • 3a Syndrome

  • 4a Syndrome

  • Adrenal Insufficiency-Achalasia-Alacrima Syndrome

  • Double A Syndrome

  • Quaternary A Syndrome

  • Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

  • Allgrove'S Syndrome

  • Adrenal Gland Hypofunction

  • Adrenal Cortical Hypofunction

Familial Glucocorticoid Deficiency
  • Glucocorticoid Deficiency

  • Acth Resistance

  • Adrenal Unresponsiveness To Acth

  • Hereditary Unresponsiveness To Adrenocorticotropic Hormone

  • Isolated Glucocorticoid Deficiency

  • Glucocorticoid Deficiency, Familial

  • Glucocorticoid Deficiency 1

Galloway-Mowat Syndrome
  • Galloway Mowat Syndrome

  • Galloway Syndrome

  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

  • Microcephaly Nephrosis Syndrome

  • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

  • Nephrosis Neuronal Dysmigration Syndrome

  • Microcephaly-Hiatus Hernia-Nephrotic Syndrome

  • Nephrosis-Neuronal Dysmigration Syndrome

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

Species Symbol Source ID
Canis familiaris SGPL1 VGNC VGNC:46102
Bos taurus SGPL1 VGNC VGNC:34547
Macaca mulatta SGPL1 VGNC VGNC:77196
Felis catus SGPL1 VGNC VGNC:65083
Rattus norvegicus SGPL1 RGD RGD:628599
Mus musculus SGPL1 MGD MGI:1261415
Others SGPL1 NCBI