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Protein

Ectonucleotide pyrophosphatase/phosphodiesterase family member 7

Gene

ENPP7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity.1 Publication

Catalytic activityi

Sphingomyelin + H2O = N-acylsphingosine + phosphocholine.1 Publication

Enzyme regulationi

Inhibited in a dose dependent manner by ATP, imidazole, orthovanadate and zinc ion. Not inhibited by ADP, AMP and EDTA.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei75 – 751NucleophileBy similarity

GO - Molecular functioni

  • sphingomyelin phosphodiesterase activity Source: UniProtKB

GO - Biological processi

  • glycosphingolipid metabolic process Source: Reactome
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of DNA replication Source: UniProtKB
  • sphingomyelin catabolic process Source: InterPro
  • sphingomyelin metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BRENDAi3.1.4.12. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.

Chemistry

SwissLipidsiSLP:000000173.

Names & Taxonomyi

Protein namesi
Recommended name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (EC:3.1.4.12)
Short name:
E-NPP 7
Short name:
NPP-7
Alternative name(s):
Alkaline sphingomyelin phosphodiesterase
Intestinal alkaline sphingomyelinase
Short name:
Alk-SMase
Gene namesi
Name:ENPP7Imported
ORF Names:UNQ3077/PRO9912
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:23764. ENPP7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei434 – 45421HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • microvillus Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi76 – 761S → F: Loss of activity. 2 Publications
Mutagenesisi78 – 781C → N: Strongly reduces activity. 2 Publications
Mutagenesisi100 – 1001N → Q: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-121; Q-146; Q-168 and Q-267. 2 Publications
Mutagenesisi121 – 1211N → Q: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-146; Q-168 and Q-267. 2 Publications
Mutagenesisi146 – 1461N → Q: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-146; Q-168 and Q-267. 2 Publications
Mutagenesisi168 – 1681N → Q: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-121; Q-168 and Q-267. 2 Publications
Mutagenesisi267 – 2671N → Q: Strongly reduces N-glycosylation and enzyme activity; when associated with Q-100; Q-121; Q-146 and Q-168. 2 Publications
Mutagenesisi353 – 3531H → A: Loss of activity. 1 Publication

Organism-specific databases

PharmGKBiPA134986550.

Chemistry

ChEMBLiCHEMBL6058.

Polymorphism and mutation databases

DMDMi134047772.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence analysis1 PublicationAdd
BLAST
Chaini22 – 458437Ectonucleotide pyrophosphatase/phosphodiesterase family member 7PRO_0000036403Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi100 – 1001N-linked (GlcNAc...)1 Publication
Glycosylationi121 – 1211N-linked (GlcNAc...)1 Publication
Glycosylationi146 – 1461N-linked (GlcNAc...)2 Publications
Glycosylationi168 – 1681N-linked (GlcNAc...)1 Publication
Glycosylationi267 – 2671N-linked (GlcNAc...)1 Publication

Post-translational modificationi

N-glycosylated; required for activity and transport to the plasma membrane.2 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6UWV6.
PeptideAtlasiQ6UWV6.
PRIDEiQ6UWV6.

PTM databases

PhosphoSiteiQ6UWV6.

Expressioni

Tissue specificityi

Detected in the colon (at protein level). Expressed in the duodenum, jejunum and liver and at low levels in the ileum. Expression was very low in the esophagus, stomach and colon.2 Publications

Gene expression databases

BgeeiENSG00000182156.
CleanExiHS_ENPP7.
ExpressionAtlasiQ6UWV6. baseline and differential.
GenevisibleiQ6UWV6. HS.

Organism-specific databases

HPAiHPA024603.

Interactioni

Protein-protein interaction databases

BioGridi130844. 9 interactions.
STRINGi9606.ENSP00000332656.

Structurei

3D structure databases

ProteinModelPortaliQ6UWV6.
SMRiQ6UWV6. Positions 33-413.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni72 – 787Required for enzyme activity

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2645. Eukaryota.
COG1524. LUCA.
HOGENOMiHOG000231018.
HOVERGENiHBG106748.
InParanoidiQ6UWV6.
KOiK12354.
OrthoDBiEOG091G06NA.
PhylomeDBiQ6UWV6.
TreeFamiTF330032.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR024873. E-NPP.
IPR029895. ENPP7.
IPR002591. Phosphodiest/P_Trfase.
[Graphical view]
PANTHERiPTHR10151. PTHR10151. 1 hit.
PTHR10151:SF63. PTHR10151:SF63. 1 hit.
PfamiPF01663. Phosphodiest. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6UWV6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRGLAVLLTV ALATLLAPGA GAPVQSQGSQ NKLLLVSFDG FRWNYDQDVD
60 70 80 90 100
TPNLDAMARD GVKARYMTPA FVTMTSPCHF TLVTGKYIEN HGVVHNMYYN
110 120 130 140 150
TTSKVKLPYH ATLGIQRWWD NGSVPIWITA QRQGLRAGSF FYPGGNVTYQ
160 170 180 190 200
GVAVTRSRKE GIAHNYKNET EWRANIDTVM AWFTEEDLDL VTLYFGEPDS
210 220 230 240 250
TGHRYGPESP ERREMVRQVD RTVGYLRESI ARNHLTDRLN LIITSDHGMT
260 270 280 290 300
TVDKRAGDLV EFHKFPNFTF RDIEFELLDY GPNGMLLPKE GRLEKVYDAL
310 320 330 340 350
KDAHPKLHVY KKEAFPEAFH YANNPRVTPL LMYSDLGYVI HGRINVQFNN
360 370 380 390 400
GEHGFDNKDM DMKTIFRAVG PSFRAGLEVE PFESVHVYEL MCRLLGIVPE
410 420 430 440 450
ANDGHLATLL PMLHTESALP PDGRPTLLPK GRSALPPSSR PLLVMGLLGT

VILLSEVA
Length:458
Mass (Da):51,494
Last modified:March 20, 2007 - v3
Checksum:iF6A06913C33E4398
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011T → I in AAQ88985 (PubMed:12975309).Curated
Sequence conflicti388 – 3881Y → N in BAC86504 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41L → P.3 Publications
Corresponds to variant rs8074547 [ dbSNP | Ensembl ].
VAR_021506

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY230663 mRNA. Translation: AAP69661.1.
AY358622 mRNA. Translation: AAQ88985.1.
AK126250 mRNA. Translation: BAC86504.1.
BC041453 mRNA. Translation: AAH41453.2.
CCDSiCCDS11763.1.
RefSeqiNP_848638.3. NM_178543.4.
UniGeneiHs.114084.

Genome annotation databases

EnsembliENST00000328313; ENSP00000332656; ENSG00000182156.
GeneIDi339221.
KEGGihsa:339221.
UCSCiuc002jxa.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY230663 mRNA. Translation: AAP69661.1.
AY358622 mRNA. Translation: AAQ88985.1.
AK126250 mRNA. Translation: BAC86504.1.
BC041453 mRNA. Translation: AAH41453.2.
CCDSiCCDS11763.1.
RefSeqiNP_848638.3. NM_178543.4.
UniGeneiHs.114084.

3D structure databases

ProteinModelPortaliQ6UWV6.
SMRiQ6UWV6. Positions 33-413.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130844. 9 interactions.
STRINGi9606.ENSP00000332656.

Chemistry

ChEMBLiCHEMBL6058.
SwissLipidsiSLP:000000173.

PTM databases

PhosphoSiteiQ6UWV6.

Polymorphism and mutation databases

DMDMi134047772.

Proteomic databases

PaxDbiQ6UWV6.
PeptideAtlasiQ6UWV6.
PRIDEiQ6UWV6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328313; ENSP00000332656; ENSG00000182156.
GeneIDi339221.
KEGGihsa:339221.
UCSCiuc002jxa.5. human.

Organism-specific databases

CTDi339221.
GeneCardsiENPP7.
H-InvDBHIX0027161.
HGNCiHGNC:23764. ENPP7.
HPAiHPA024603.
neXtProtiNX_Q6UWV6.
PharmGKBiPA134986550.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2645. Eukaryota.
COG1524. LUCA.
HOGENOMiHOG000231018.
HOVERGENiHBG106748.
InParanoidiQ6UWV6.
KOiK12354.
OrthoDBiEOG091G06NA.
PhylomeDBiQ6UWV6.
TreeFamiTF330032.

Enzyme and pathway databases

BRENDAi3.1.4.12. 2681.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

GeneWikiiENPP7.
GenomeRNAii339221.
PROiQ6UWV6.

Gene expression databases

BgeeiENSG00000182156.
CleanExiHS_ENPP7.
ExpressionAtlasiQ6UWV6. baseline and differential.
GenevisibleiQ6UWV6. HS.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR024873. E-NPP.
IPR029895. ENPP7.
IPR002591. Phosphodiest/P_Trfase.
[Graphical view]
PANTHERiPTHR10151. PTHR10151. 1 hit.
PTHR10151:SF63. PTHR10151:SF63. 1 hit.
PfamiPF01663. Phosphodiest. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiENPP7_HUMAN
AccessioniPrimary (citable) accession number: Q6UWV6
Secondary accession number(s): Q6ZTS5, Q8IUS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 20, 2007
Last modified: September 7, 2016
This is version 117 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

Decreased levels of alkaline sphingomyelin phosphodiesterase may be associated with colon cancer.2 Publications

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.