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Protein

Sphingomyelin phosphodiesterase 4

Gene

SMPD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by phosphatidylserine and tumor necrosis factor (TNF). Inhibited by scyphostatin.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>pH dependencei

Optimum pH is 7.0.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.4.12 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660662 Glycosphingolipid metabolism

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sphingomyelin phosphodiesterase 4Curated (EC:3.1.4.121 Publication)
Alternative name(s):
Neutral sphingomyelinase 31 Publication
Short name:
nSMase-31 Publication
Short name:
nSMase31 Publication
Neutral sphingomyelinase III
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMPD4Imported
Synonyms:KIAA1418, SKNY
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136699.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:32949 SMPD4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610457 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NXE4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei822 – 842HelicalSequence analysis1 PublicationAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi862 – 865KLHQ → AAAA: No effect on endoplasmic reticulum location. 1 Publication4

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000136699

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145148067

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00144 Phosphatidyl serine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SMPD4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124015179

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002731631 – 866Sphingomyelin phosphodiesterase 4Add BLAST866

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei169PhosphoserineCombined sources1
Modified residuei285PhosphoserineBy similarity1
Modified residuei708PhosphothreonineCombined sources1
Modified residuei792PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NXE4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NXE4

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NXE4

PeptideAtlas

More...
PeptideAtlasi
Q9NXE4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NXE4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83079
83080 [Q9NXE4-2]
83081 [Q9NXE4-3]
83082 [Q9NXE4-4]
83083 [Q9NXE4-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NXE4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NXE4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, with highest levels in heart and skeletal muscle.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is induced by DNA-damage and TNF.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136699 Expressed in 90 organ(s), highest expression level in left lobe of thyroid gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_SMPD4

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NXE4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NXE4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046279
HPA049426

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120766, 34 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NXE4, 27 interactors

Molecular INTeraction database

More...
MINTi
Q9NXE4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386531

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9NXE4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi242 – 264Pro-richPROSITE-ProRule annotation1 PublicationAdd BLAST23

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4396 Eukaryota
ENOG410YYEJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006044

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000026800

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG082060

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NXE4

KEGG Orthology (KO)

More...
KOi
K12353

Identification of Orthologs from Complete Genome Data

More...
OMAi
LNPHQMS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G052W

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NXE4

TreeFam database of animal gene trees

More...
TreeFami
TF324409

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024129 Sphingomy_SMPD4

The PANTHER Classification System

More...
PANTHERi
PTHR12988 PTHR12988, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14724 mit_SMPDase, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (10+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 10 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 10 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NXE4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTTFGAVAEW RLPSLRRATL WIPQWFAKKA IFNSPLEAAM AFPHLQQPSF
60 70 80 90 100
LLASLKADSI NKPFAQQCQD LVKVIEDFPA KELHTIFPWL VESIFGSLDG
110 120 130 140 150
VLVGWNLRCL QGRVNPVEYS IVMEFLDPGG PMMKLVYKLQ AEDYKFDFPV
160 170 180 190 200
SYLPGPVKAS IQECILPDSP LYHNKVQFTP TGGLGLNLAL NPFEYYIFFF
210 220 230 240 250
ALSLITQKPL PVSLHVRTSD CAYFILVDRY LSWFLPTEGS VPPPLSSSPG
260 270 280 290 300
GTSPSPPPRT PAIPFASYGL HHTSLLKRHI SHQTSVNADP ASHEIWRSET
310 320 330 340 350
LLQVFVEMWL HHYSLEMYQK MQSPHAKLEV LHYRLSVSSA LYSPAQPSLQ
360 370 380 390 400
ALHAYQESFT PTEEHVLVVR LLLKHLHAFA NSLKPEQASP SAHSHATSPL
410 420 430 440 450
EEFKRAAVPR FVQQKLYLFL QHCFGHWPLD ASFRAVLEMW LSYLQPWRYA
460 470 480 490 500
PDKQAPGSDS QPRCVSEKWA PFVQENLLMY TKLFVGFLNR ALRTDLVSPK
510 520 530 540 550
HALMVFRVAK VFAQPNLAEM IQKGEQLFLE PELVIPHRQH RLFTAPTFTG
560 570 580 590 600
SFLSPWPPAV TDASFKVKSH VYSLEGQDCK YTPMFGPEAR TLVLRLAQLI
610 620 630 640 650
TQAKHTAKSI SDQCAESPAG HSFLSWLGFS SMDTNGSYTA NDLDEMGQDS
660 670 680 690 700
VRKTDEYLEK ALEYLRQIFR LSEAQLRQFT LALGTTQDEN GKKQLPDCIV
710 720 730 740 750
GEDGLILTPL GRYQIINGLR RFEIEYQGDP ELQPIRSYEI ASLVRTLFRL
760 770 780 790 800
SSAINHRFAG QMAALCSRDD FLGSFCRYHL TEPGLASRHL LSPVGRRQVA
810 820 830 840 850
GHTRGPRLSL RFLGSYRTLV SLLLAFFVAS LFCVGPLPCT LLLTLGYVLY
860
ASAMTLLTER GKLHQP
Length:866
Mass (Da):97,810
Last modified:March 28, 2018 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3D7C615AAF733865
GO
Isoform 2 (identifier: Q9NXE4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-356: Missing.

Show »
Length:837
Mass (Da):94,585
Checksum:iEC3FF50A2AB89CCE
GO
Isoform 3 (identifier: Q9NXE4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Note: No experimental confirmation available.
Show »
Length:735
Mass (Da):83,071
Checksum:iD8AB07DB58C4FC79
GO
Isoform 4 (identifier: Q9NXE4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     404-404: K → KRMGLNLPEVPSALPRRSQPSLMGALGSSVSRASLLGKQQVTLPIPC

Note: No experimental confirmation available.
Show »
Length:912
Mass (Da):102,607
Checksum:i67A75EB57719A97D
GO
Isoform 5 (identifier: Q9NXE4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     40-468: Missing.
     469-523: WAPFVQENLL...QPNLAEMIQK → MSATYCVGDA...VGARFVSCLL

Note: No experimental confirmation available.
Show »
Length:437
Mass (Da):48,681
Checksum:iEA400159F52BE3B0
GO
Isoform 6 (identifier: Q9NXE4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-154: Missing.
     328-356: Missing.

Show »
Length:764
Mass (Da):86,193
Checksum:iB9110FD449F73E04
GO
Isoform 7 (identifier: Q9NXE4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: MTTFGAVAEW...LDPGGPMMKL → MQTPPPTRSG...FSSGCVQDEE
     136-355: Missing.

Note: No experimental confirmation available.
Show »
Length:607
Mass (Da):68,254
Checksum:i34101AA98A60F6BE
GO
Isoform 8 (identifier: Q9NXE4-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-154: Missing.
     155-303: Missing.
     328-356: Missing.

Note: No experimental confirmation available.
Show »
Length:615
Mass (Da):69,804
Checksum:i0C84F51DDCC86612
GO
Isoform 9 (identifier: Q9NXE4-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MTTFGAVAEW...DLVKVIEDFP → MQTPPPTRSG...CIKKCSPLMP
     80-404: Missing.

Note: No experimental confirmation available.
Show »
Length:502
Mass (Da):56,805
Checksum:iC9DC3697BFF9243D
GO
Isoform 10 (identifier: Q9NXE4-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-307: Missing.
     328-356: Missing.

Note: No experimental confirmation available.
Show »
Length:530
Mass (Da):60,173
Checksum:iE9572BAAA322C832
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BXF4H7BXF4_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
837Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1Q6H7C1Q6_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
741Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J647C9J647_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2J2H7C2J2_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
274Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C235H7C235_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
211Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2E2H7C2E2_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
265Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WF03F8WF03_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEQ5F8WEQ5_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0W5H7C0W5_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
313Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2W5F2Z2W5_HUMAN
Sphingomyelin phosphodiesterase 4
SMPD4
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAY14883 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91070 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91368 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91567 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92656 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti203S → G in BAG61230 (PubMed:14702039).Curated1
Sequence conflicti579C → R in BAA91567 (PubMed:14702039).Curated1
Sequence conflicti731E → K in BAA91368 (PubMed:14702039).Curated1
Sequence conflicti732L → Q in BAA91567 (PubMed:14702039).Curated1
Sequence conflicti742S → G in BAC86751 (PubMed:14702039).Curated1
Sequence conflicti862K → E in BAG61230 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0553431 – 307Missing in isoform 10. 1 PublicationAdd BLAST307
Alternative sequenceiVSP_0543821 – 135MTTFG…PMMKL → MQTPPPTRSGGQKLCSRFLL KCGFITIPWRCIKKCSPLMP SWRFCTTDSVSPAPSTAPPN PASRPSTPTKSLGNRGSDAR GFYWAEFSSGCVQDEE in isoform 7. 1 PublicationAdd BLAST135
Alternative sequenceiVSP_0224801 – 131Missing in isoform 3. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_0543831 – 79MTTFG…IEDFP → MQTPPPTRSGGQKLCSRFLL KCGFITIPWRCIKKCSPLMP in isoform 9. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_02247940 – 468Missing in isoform 5. 1 PublicationAdd BLAST429
Alternative sequenceiVSP_05438480 – 404Missing in isoform 9. 1 PublicationAdd BLAST325
Alternative sequenceiVSP_04449582 – 154Missing in isoform 6 and isoform 8. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_054385136 – 355Missing in isoform 7. 1 PublicationAdd BLAST220
Alternative sequenceiVSP_054386155 – 303Missing in isoform 8. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_022481328 – 356Missing in isoform 2, isoform 6, isoform 8 and isoform 10. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_022482404K → KRMGLNLPEVPSALPRRSQP SLMGALGSSVSRASLLGKQQ VTLPIPC in isoform 4. 1 Publication1
Alternative sequenceiVSP_022483469 – 523WAPFV…EMIQK → MSATYCVGDAARQGLRRTPL GHGSPDTSETPQNPKGSSRV LCLREVGARFVSCLL in isoform 5. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
EU367941 mRNA Translation: ACA48221.1
AB037839 mRNA Translation: BAA92656.1 Different initiation.
AK000304 mRNA Translation: BAA91070.1 Different initiation.
AK000763 mRNA Translation: BAA91368.1 Different initiation.
AK001227 mRNA Translation: BAA91567.1 Different initiation.
AK126920 mRNA Translation: BAC86751.1
AK297257 mRNA Translation: BAG59735.1
AK298609 mRNA Translation: BAG60793.1
AK299185 mRNA Translation: BAG61230.1
AK303427 mRNA Translation: BAG64478.1
AK301576 mRNA Translation: BAG63069.1
AC018804 Genomic DNA Translation: AAY14883.1 Different initiation.
CH471263 Genomic DNA Translation: EAW55600.1
BC064947 mRNA Translation: AAH64947.1
AL136737 mRNA Translation: CAB66671.2
CR533550 mRNA Translation: CAG38581.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2156.2 [Q9NXE4-2]
CCDS42751.1 [Q9NXE4-1]
CCDS54398.1 [Q9NXE4-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001164554.1, NM_001171083.2 [Q9NXE4-6]
NP_060221.2, NM_017751.4 [Q9NXE4-2]
NP_060421.2, NM_017951.4 [Q9NXE4-1]
XP_011509747.1, XM_011511445.2 [Q9NXE4-3]
XP_016859937.1, XM_017004448.1 [Q9NXE4-7]
XP_016859938.1, XM_017004449.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.516450

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000351288; ENSP00000259217; ENSG00000136699 [Q9NXE4-2]
ENST00000409031; ENSP00000386531; ENSG00000136699 [Q9NXE4-1]
ENST00000431183; ENSP00000405187; ENSG00000136699 [Q9NXE4-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55627

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55627

UCSC genome browser

More...
UCSCi
uc002tqq.3 human
uc010zab.3 human [Q9NXE4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU367941 mRNA Translation: ACA48221.1
AB037839 mRNA Translation: BAA92656.1 Different initiation.
AK000304 mRNA Translation: BAA91070.1 Different initiation.
AK000763 mRNA Translation: BAA91368.1 Different initiation.
AK001227 mRNA Translation: BAA91567.1 Different initiation.
AK126920 mRNA Translation: BAC86751.1
AK297257 mRNA Translation: BAG59735.1
AK298609 mRNA Translation: BAG60793.1
AK299185 mRNA Translation: BAG61230.1
AK303427 mRNA Translation: BAG64478.1
AK301576 mRNA Translation: BAG63069.1
AC018804 Genomic DNA Translation: AAY14883.1 Different initiation.
CH471263 Genomic DNA Translation: EAW55600.1
BC064947 mRNA Translation: AAH64947.1
AL136737 mRNA Translation: CAB66671.2
CR533550 mRNA Translation: CAG38581.1
CCDSiCCDS2156.2 [Q9NXE4-2]
CCDS42751.1 [Q9NXE4-1]
CCDS54398.1 [Q9NXE4-6]
RefSeqiNP_001164554.1, NM_001171083.2 [Q9NXE4-6]
NP_060221.2, NM_017751.4 [Q9NXE4-2]
NP_060421.2, NM_017951.4 [Q9NXE4-1]
XP_011509747.1, XM_011511445.2 [Q9NXE4-3]
XP_016859937.1, XM_017004448.1 [Q9NXE4-7]
XP_016859938.1, XM_017004449.1
UniGeneiHs.516450

3D structure databases

ProteinModelPortaliQ9NXE4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120766, 34 interactors
IntActiQ9NXE4, 27 interactors
MINTiQ9NXE4
STRINGi9606.ENSP00000386531

Chemistry databases

DrugBankiDB00144 Phosphatidyl serine

PTM databases

iPTMnetiQ9NXE4
PhosphoSitePlusiQ9NXE4

Polymorphism and mutation databases

BioMutaiSMPD4
DMDMi124015179

Proteomic databases

EPDiQ9NXE4
MaxQBiQ9NXE4
PaxDbiQ9NXE4
PeptideAtlasiQ9NXE4
PRIDEiQ9NXE4
ProteomicsDBi83079
83080 [Q9NXE4-2]
83081 [Q9NXE4-3]
83082 [Q9NXE4-4]
83083 [Q9NXE4-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351288; ENSP00000259217; ENSG00000136699 [Q9NXE4-2]
ENST00000409031; ENSP00000386531; ENSG00000136699 [Q9NXE4-1]
ENST00000431183; ENSP00000405187; ENSG00000136699 [Q9NXE4-6]
GeneIDi55627
KEGGihsa:55627
UCSCiuc002tqq.3 human
uc010zab.3 human [Q9NXE4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55627
EuPathDBiHostDB:ENSG00000136699.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SMPD4
HGNCiHGNC:32949 SMPD4
HPAiHPA046279
HPA049426
MIMi610457 gene
neXtProtiNX_Q9NXE4
OpenTargetsiENSG00000136699
PharmGKBiPA145148067

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4396 Eukaryota
ENOG410YYEJ LUCA
GeneTreeiENSGT00390000006044
HOGENOMiHOG000026800
HOVERGENiHBG082060
InParanoidiQ9NXE4
KOiK12353
OMAiLNPHQMS
OrthoDBiEOG091G052W
PhylomeDBiQ9NXE4
TreeFamiTF324409

Enzyme and pathway databases

BRENDAi3.1.4.12 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SMPD4 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SMPD4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55627

Protein Ontology

More...
PROi
PR:Q9NXE4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136699 Expressed in 90 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_SMPD4
ExpressionAtlasiQ9NXE4 baseline and differential
GenevisibleiQ9NXE4 HS

Family and domain databases

InterProiView protein in InterPro
IPR024129 Sphingomy_SMPD4
PANTHERiPTHR12988 PTHR12988, 1 hit
PfamiView protein in Pfam
PF14724 mit_SMPDase, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNSMA3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NXE4
Secondary accession number(s): B1PBA3
, B4DM23, B4DQ31, B4DRB8, B4DWK7, B4E0L6, E7ESA2, E9PCE6, Q6FI76, Q6P1P7, Q6ZT43, Q9H0M2, Q9NW20, Q9NWL2, Q9P2C9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: March 28, 2018
Last modified: December 5, 2018
This is version 124 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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