| Identification |
| HMDB Protein ID
| CDBP01023 |
| Secondary Accession Numbers
| Not Available |
| Name
| Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 |
| Description
| Not Available |
| Synonyms
|
- Alk-SMase
- Alkaline sphingomyelin phosphodiesterase
- E-NPP 7
- Intestinal alkaline sphingomyelinase
- NPP-7
|
| Gene Name
| ENPP7 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in catalytic activity |
| Specific Function
| Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity.
|
| GO Classification
|
| Biological Process |
| glycosphingolipid metabolic process |
| sphingomyelin metabolic process |
| negative regulation of DNA replication |
| negative regulation of cell proliferation |
| Cellular Component |
| plasma membrane |
| Golgi apparatus |
| microvillus |
| integral to membrane |
| Function |
| catalytic activity |
| Molecular Function |
| sphingomyelin phosphodiesterase activity |
| Process |
| metabolic process |
|
| Cellular Location
|
- Membrane
- Single-pass type I membrane protein (Potential)
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Sphingolipid Metabolism |    |  | | Gaucher Disease |    | Not Available | | Globoid Cell Leukodystrophy |    | Not Available | | Metachromatic Leukodystrophy (MLD) |    | Not Available | | Fabry disease |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 17 |
| Locus
| 17q25.3 |
| SNPs
| ENPP7 |
| Gene Sequence
|
>1377 bp
ATGAGAGGCCTGGCCGTCCTCCTCACTGTGGCTCTGGCCACGCTCCTGGCTCCCGGGGCC
GGAGCACCGGTACAAAGTCAGGGCTCCCAGAACAAGCTGCTCCTGGTGTCCTTCGACGGC
TTCCGCTGGAACTACGACCAGGATGTGGACACCCCCAACCTGGACGCCATGGCCCGAGAC
GGGGTGAAGGCACGCTACATGACCCCCGCCTTTGTCACCATGACCAGCCCCTGCCACTTC
ACCCTGGTCACCGGCAAATATATCGAGAACCACGGGGTGGTTCACAACATGTACTACAAC
ACCACCAGCAAGGTGAAGCTGCCCTACCACGCCACGCTGGGCATCCAGAGGTGGTGGGAC
AACGGCAGCGTGCCCATCTGGATCACAGCCCAGAGGCAGGGCCTGAGGGCTGGCTCCTTC
TTCTACCCGGGCGGGAACGTCACCTACCAAGGGGTGGCTGTGACGCGGAGCCGGAAAGAA
GGCATCGCACACAACTACAAAAATGAGACGGAGTGGAGAGCGAACATCGACACAGTGATG
GCGTGGTTCACAGAGGAGGACCTGGATCTGGTCACACTCTACTTCGGGGAGCCGGACTCC
ACGGGCCACAGGTACGGCCCCGAGTCCCCGGAGAGGAGGGAGATGGTGCGGCAGGTGGAC
CGGACCGTGGGCTACCTCCGGGAGAGCATCGCGCGCAACCACCTCACAGACCGCCTCAAC
CTGATCATCACATCCGACCACGGCATGACGACCGTGGACAAACGGGCTGGCGACCTGGTT
GAATTCCACAAGTTCCCCAACTTCACCTTCCGGGACATCGAGTTTGAGCTCCTGGACTAC
GGACCAAACGGGATGCTGCTCCCTAAAGAAGGGAGGCTGGAGAAGGTGTACGATGCCCTC
AAGGACGCCCACCCCAAGCTCCACGTCTACAAGAAGGAGGCGTTCCCCGAGGCCTTCCAC
TACGCCAACAACCCCAGGGTCACACCCCTGCTGATGTACAGCGACCTTGGCTACGTCATC
CATGGGAGAATTAACGTCCAGTTCAACAATGGGGAGCACGGCTTTGACAACAAGGACATG
GACATGAAGACCATCTTCCGCGCTGTGGGCCCTAGCTTCAGGGCGGGCCTGGAGGTGGAG
CCCTTTGAGAGCGTCCACGTGTACGAGCTCATGTGCCGGCTGCTGGGCATCGTGCCCGAG
GCCAACGATGGGCACCTAGCTACTCTGCTGCCCATGCTGCACACAGAATCTGCTCTTCCG
CCTGATGGAAGGCCTACTCTCCTGCCCAAGGGAAGATCTGCTCTCCCGCCCAGCAGCAGG
CCCCTCCTCGTGATGGGACTGCTGGGGACCGTGATTCTTCTGTCTGAGGTCGCATAA
|
| Protein Properties |
| Number of Residues
| 458 |
| Molecular Weight
| 51493.415 |
| Theoretical pI
| 6.883 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Ectonucleotide pyrophosphatase/phosphodiesterase family member 7
MRGLAVLLTVALATLLAPGAGAPVQSQGSQNKLLLVSFDGFRWNYDQDVDTPNLDAMARD
GVKARYMTPAFVTMTSPCHFTLVTGKYIENHGVVHNMYYNTTSKVKLPYHATLGIQRWWD
NGSVPIWITAQRQGLRAGSFFYPGGNVTYQGVAVTRSRKEGIAHNYKNETEWRANIDTVM
AWFTEEDLDLVTLYFGEPDSTGHRYGPESPERREMVRQVDRTVGYLRESIARNHLTDRLN
LIITSDHGMTTVDKRAGDLVEFHKFPNFTFRDIEFELLDYGPNGMLLPKEGRLEKVYDAL
KDAHPKLHVYKKEAFPEAFHYANNPRVTPLLMYSDLGYVIHGRINVQFNNGEHGFDNKDM
DMKTIFRAVGPSFRAGLEVEPFESVHVYELMCRLLGIVPEANDGHLATLLPMLHTESALP
PDGRPTLLPKGRSALPPSSRPLLVMGLLGTVILLSEVA
|
| External Links |
| GenBank ID Protein
| 45545421 |
| UniProtKB/Swiss-Prot ID
| Q6UWV6 |
| UniProtKB/Swiss-Prot Entry Name
| ENPP7_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_178543.3 |
| GeneCard ID
| ENPP7 |
| GenAtlas ID
| ENPP7 |
| HGNC ID
| HGNC:23764 |
| References |
| General References
| Not Available |