SMPD4
entrez
55627
canonical
uniprot
Q9NXE4
canonical
ensembl
ENSG00000136699
resolver
ensembl
ENSG00000292130
resolver
ensp
ENSP00000259217
resolver
ensp
ENSP00000401648
resolver
ensp
ENSP00000405187
resolver
ensp
ENSP00000506463
resolver
ensp
ENSP00000517883
resolver
ensp
ENSP00000553626
resolver
ensp
ENSP00000621080
resolver
ensp
ENSP00000750743
resolver
enst
ENST00000680298
resolver
enst
ENST00000709805
resolver
enst
ENST00000883567
resolver
enst
ENST00000951021
resolver
genesymbol
SMPD4
resolver
genesymbol_syn
KIAA1418
resolver
genesymbol_syn
SKNY
resolver
hgnc
HGNC:32949
resolver
uniprot
A0A7P0TB24
resolver
uniprot
B1PBA3
resolver
uniprot
B4DM23
resolver
uniprot
B4DQ31
resolver
uniprot
B4DRB8
resolver
uniprot
B4DWK7
resolver
uniprot
B4E0L6
resolver
uniprot
E7ESA2
resolver
uniprot
E9PCE6
resolver
uniprot
Q6FI76
resolver
uniprot
Q6P1P7
resolver
uniprot
Q6ZT43
resolver
uniprot
Q9H0M2
resolver
uniprot
Q9NW20
resolver
uniprot
Q9NWL2
resolver
uniprot
Q9P2C9
resolver
uniprot_entry
A0A7P0TB24_HUMAN
resolver
uniprot_entry
NSMA3_HUMAN
resolver
uniprot_sec
B1PBA3
resolver
uniprot_sec
B4DM23
resolver
uniprot_sec
B4DQ31
resolver
uniprot_sec
B4DRB8
resolver
uniprot_sec
B4DWK7
resolver
uniprot_sec
B4E0L6
resolver
uniprot_sec
E7ESA2
resolver
uniprot_sec
E9PCE6
resolver
uniprot_sec
Q6FI76
resolver
uniprot_sec
Q6P1P7
resolver
uniprot_sec
Q6ZT43
resolver
uniprot_sec
Q9H0M2
resolver
uniprot_sec
Q9NW20
resolver
uniprot_sec
Q9NWL2
resolver
uniprot_sec
Q9P2C9
resolver
activity_regulation
ACTIVITY REGULATION: Activated by phosphatidylserine and tumor necrosis factor (TNF). Inhibited by scyphostatin. {ECO:0000269|PubMed:16517606}.
uniprot
proteins
amino_acid_sequence
MTTFGAVAEWRLPSLRRATLWIPQWFAKKAIFNSPLEAAMAFPHLQQPSFLLASLKADSINKPFAQQCQDLVKVIEDFPAKELHTIFPWLVESIFGSLDGVLVGWNLRCLQGRVNPVEYSIVMEFLDPGGPMMKLVYKLQAEDYKFDFPVSYLPGPVKASIQECILPDSPLYHNKVQFTPTGGLGLNLALNPFEYYIFFFALSLITQKPLPVSLHVRTSDCAYFILVDRYLSWFLPTEGSVPPPLSSSPGGTSPSPPPRTPAIPFASYGLHHTSLLKRHISHQTSVNADPASHEIWRSETLLQVFVEMWLHHYSLEMYQKMQSPHAKLEVLHYRLSVSSALYSPAQPSLQALHAYQESFTPTEEHVLVVRLLLKHLHAFANSLKPEQASPSAHSHATSPLEEFKRAAVPRFVQQKLYLFLQHCFGHWPLDASFRAVLEMWLSYLQPWRYAPDKQAPGSDSQPRCVSEKWAPFVQENLLMYTKLFVGFLNRALRTDLVSPKHALMVFRVAKVFAQPNLAEMIQKGEQLFLEPELVIPHRQHRLFTAPTFTGSFLSPWPPAVTDASFKVKSHVYSLEGQDCKYTPMFGPEARTLVLRLAQLITQAKHTAKSISDQCAESPAGHSFLSWLGFSSMDTNGSYTANDLDEMGQDSVRKTDEYLEKALEYLRQIFRLSEAQLRQFTLALGTTQDENGKKQLPDCIVGEDGLILTPLGRYQIINGLRRFEIEYQGDPELQPIRSYEIASLVRTLFRLSSAINHRFAGQMAALCSRDDFLGSFCRYHLTEPGLASRHLLSPVGRRQVAGHTRGPRLSLRFLGSYRTLVSLLLAFFVASLFCVGPLPCTLLLTLGYVLYASAMTLLTERGKLHQP
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA) [MIM:618622]: An autosomal recessive disorder characterized by severe global developmental delay, severely impaired intellectual development with poor or absent speech, severe encephalopathy, microcephaly with simplified gyral pattern, hypomyelination, thin corpus callosum, mild cerebellar hypoplasia, brainstem hypoplasia, congenital arthrogryposis, dysmorphic features, and respiratory problems often leading to early demise. {ECO:0000269|PubMed:31495489}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.12
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606, PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function (PubMed:31495489). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). In skeletal muscle, mediates TNF-stimulated oxidant production (By similarity). {ECO:0000250|UniProtKB:Q6ZPR5, ECO:0000269|PubMed:16517606, ECO:0000269|PubMed:18505924, ECO:0000269|PubMed:25180167, ECO:0000269|PubMed:31495489}.
uniprot
proteins
mass_dalton
97810
uniprot
proteins
mutagenesis
MUTAGEN 862..865; /note="KLHQ->AAAA: No effect on endoplasmic reticulum location."; /evidence="ECO:0000269|PubMed:18505924
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16517606
uniprot
proteins
pubmed
18505924
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25180167
uniprot
proteins
pubmed
31495489
uniprot
proteins
sequence_length
866
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16517606, ECO:0000269|PubMed:18505924, ECO:0000269|PubMed:31495489}; Single-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:16517606}; Single-pass membrane protein {ECO:0000255}. Nucleus envelope {ECO:0000269|PubMed:31495489}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q6ZPR5}.
uniprot
proteins
transmembrane_region
TRANSMEM 822..842; /note="Helical"; /evidence="ECO:0000255, ECO:0000305|PubMed:18505924
uniprot
proteins