SGPL1
entrez
8879
canonical
uniprot
O95470
canonical
ensembl
ENSG00000166224
resolver
ensp
ENSP00000362298
resolver
ensp
ENSP00000513480
resolver
ensp
ENSP00000513481
resolver
ensp
ENSP00000513482
resolver
ensp
ENSP00000513484
resolver
ensp
ENSP00000513485
resolver
ensp
ENSP00000513486
resolver
ensp
ENSP00000702542
resolver
enst
ENST00000373202
resolver
enst
ENST00000697926
resolver
enst
ENST00000697927
resolver
enst
ENST00000697928
resolver
enst
ENST00000697930
resolver
enst
ENST00000697931
resolver
enst
ENST00000697932
resolver
genesymbol
SGPL1
resolver
genesymbol_syn
KIAA1252
resolver
hgnc
HGNC:10817
resolver
uniprot
A0A8V8TN35
resolver
uniprot
B2RBD4
resolver
uniprot
Q7Z732
resolver
uniprot
Q9ULG8
resolver
uniprot
Q9UN89
resolver
uniprot_entry
A0A8V8TN35_HUMAN
resolver
uniprot_entry
SGPL1_HUMAN
resolver
uniprot_sec
B2RBD4
resolver
uniprot_sec
Q7Z732
resolver
uniprot_sec
Q9ULG8
resolver
uniprot_sec
Q9UN89
resolver
amino_acid_sequence
MPSTDLLMLKAFEPYLEILEVYSTKAKNYVNGHCTKYEPWQLIAWSVVWTLLIVWGYEFVFQPESLWSRFKKKCFKLTRKMPIIGRKIQDKLNKTKDDISKNMSFLKVDKEYVKALPSQGLSSSAVLEKLKEYSSMDAFWQEGRASGTVYSGEEKLTELLVKAYGDFAWSNPLHPDIFPGLRKIEAEIVRIACSLFNGGPDSCGCVTSGGTESILMACKAYRDLAFEKGIKTPEIVAPQSAHAAFNKAASYFGMKIVRVPLTKMMEVDVRAMRRAISRNTAMLVCSTPQFPHGVIDPVPEVAKLAVKYKIPLHVDACLGGFLIVFMEKAGYPLEHPFDFRVKGVTSISADTHKYGYAPKGSSLVLYSDKKYRNYQFFVDTDWQGGIYASPTIAGSRPGGISAACWAALMHFGENGYVEATKQIIKTARFLKSELENIKGIFVFGNPQLSVIALGSRDFDIYRLSNLMTAKGWNLNQLQFPPSIHFCITLLHARKRVAIQFLKDIRESVTQIMKNPKAKTTGMGAIYGMAQTTVDRNMVAELSSVFLDSLYSTDTVTQGSQMNGSPKPH
uniprot
proteins
disease_involvement
DISEASE: RENI syndrome (RENI) [MIM:617575]: An autosomal recessive, steroid-resistant nephrotic syndrome that manifests in infancy or early childhood, and progresses to end-stage renal failure within a few years. Additional clinical features include ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. In rare cases, patients present with isolated primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. {ECO:0000269|PubMed:28165339, ECO:0000269|PubMed:28165343, ECO:0000269|PubMed:28181337, ECO:0000269|PubMed:30090628}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.2.27
uniprot
proteins
function
FUNCTION: Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity). {ECO:0000250|UniProtKB:Q8R0X7, ECO:0000250|UniProtKB:Q9V7Y2, ECO:0000269|PubMed:11018465, ECO:0000269|PubMed:14570870, ECO:0000269|PubMed:24809814, ECO:0000269|PubMed:28165339}.
uniprot
proteins
mass_dalton
63524
uniprot
proteins
mutagenesis
MUTAGEN 132; /note="E->G: No effect on the sphinganine-1-phosphate aldolase activity; no effect on protein abundance."; /evidence="ECO:0000269|PubMed:28165339"; MUTAGEN 218; /note="C->G: Loss of sphinganine-1-phosphate aldolase activity."; /evidence="ECO:0000269|PubMed:11018465"; MUTAGEN 317; /note="C->S: Almost no sphinganine-1-phosphate aldolase activity."; /evidence="ECO:0000269|PubMed:11018465"; MUTAGEN 353; /note="K->L: Loss of sphinganine-1-phosphate aldolase activity."; /evidence="ECO:0000269|PubMed:14570870
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; sphingolipid metabolism. {ECO:0000269|PubMed:11018465, ECO:0000269|PubMed:24809814, ECO:0000269|PubMed:28165339}.
uniprot
proteins
protein_family
Group II decarboxylase family
uniprot
proteins
protein_family
Sphingosine-1-phosphate lyase subfamily
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
11018465
uniprot
proteins
pubmed
14570870
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16777052
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22784711
uniprot
proteins
pubmed
24809814
uniprot
proteins
pubmed
28077491
uniprot
proteins
pubmed
28165339
uniprot
proteins
pubmed
28165343
uniprot
proteins
pubmed
28181337
uniprot
proteins
pubmed
30090628
uniprot
proteins
pubmed
30517686
uniprot
proteins
pubmed
30635364
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14570870}; Single-pass type III membrane protein {ECO:0000255}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8R0X7}.
uniprot
proteins
transmembrane_region
TRANSMEM 41..61; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins