| Type | Description |
|---|---|
| Definition | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-30 13:02:00 | Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients. | 31902046 |
| 2020-11-21 13:11:00 | MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity. | 31350533 |
| 2020-09-26 13:09:00 | Condyle modeling stability, craniofacial asymmetry and ACTN3 genotypes: Contribution to TMD prevalence in a cohort of dentofacial deformities. | 32726330 |
| 2020-09-19 15:54:00 | The ENPP1 is well known for its role in regulating skeletal and soft tissue mineralization. It primarily exerts its function through the generation of pyrophosphate, a key inhibitor of hydroxyapatite formation. | 30799235 |
| 2020-08-12 15:35:00 | These findings demonstrate that the novel ENPP1 founder mutation can cause a fatal multisystemic phenotype, mimicking severe congenital infection. | 31444901 |
| Type | IDs |
|---|---|
| Synonymous | ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1 |
| Gene |
UniProtKB-ID:
ENPP1_HUMAN
UniprotKB:
P22413
UniParc:
UPI00001303F0
EMBL:
AJ242021,
AJ242041,
AF110303,
AJ242036,
AF110302,
AJ242020,
AF110290,
AJ242030,
D12485,
AJ242044,
AF110283,
AJ242029,
AF110296,
AF110287,
BC059375,
AF110288,
AJ242023,
AF110299,
AJ242032,
AJ242037,
AL117378,
AJ242043,
AF067178,
AF110281,
AF110297,
AF110301,
AF110298,
AF110284,
AJ242038,
AF110292,
AF110291,
AJ242034,
AF110286,
AF110294,
AJ242024,
AJ242042,
AF067177,
AJ242026,
AJ242025,
M57736,
AF110295,
AF110280,
AJ242033,
AJ242031,
AJ242028,
AF110285,
AF110293,
AL139805,
AF110289,
AJ242035,
AJ242022,
AJ242040,
AJ242039,
AF110304,
AJ242027,
AF110300
Ensembl:
ENSG00000197594
KO:
hsa:5167
|
| Nucleutide sequences |
EMBL-CDS:
AAH59375.2,
AAD38420.1,
AAA63237.1,
BAA02054.1,
CAC39442.1,
AAD38421.1,
AAF36094.1
Ensembl_TRS:
ENST00000647893
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498074
RefSeq:
NP_006199.2
|
| Others |
UniRef100:
UniRef100_P22413
UniRef90:
UniRef90_P22413
UniRef50:
UniRef50_P22413
UniGene:
Hs.527295
CCDS:
CCDS5150.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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