| Type | Description |
|---|---|
| Definition | solute carrier family 29 member 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:33:00 | Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations. | 32944792 |
| 2020-03-28 11:32:00 | A novel 3'UTR mutation in the SLC29A3 gene is associated with the PHID (Pigmentary Hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus) syndrome, highlighting a potentially new pathological mechanism for this disease. The involvement of the 3'UTR has not been previously established in any of the H syndrome disease cluster or in any complex syndrome of DM (Diabetes Mellitus). | 30821020 |
| 2020-02-22 10:25:00 | mutations in SLC29A3 and TCIRG1 in patients with Sclerosing bone dysplasias with hallmarks of dysosteosclerosis. | 30537558 |
| 2019-12-07 11:21:00 | The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis. However, all these disorders with their different names and terminologies are actually the same entity termed H syndrome | 31464584 |
| 2019-08-24 10:06:00 | Equilibrative nucleoside transporter 3 (ENT3), encoded by the SLC29A3 gene, is the major acidic pH dependent nucleoside transporter responsible for maintaining nucleoside homeostasis in lysosomal, and potentially, in mitochondrial compartments. | 28985132 |
| Type | IDs |
|---|---|
| Synonymous | ENT3, HCLAP, HJCD, PHID |
| Gene |
UniProtKB-ID:
S29A3_HUMAN
UniprotKB:
Q9BZD2
UniParc:
UPI0001E88ED4,
UPI00001D9671
EMBL:
BC000223,
AY358686,
AL359183,
BC120996,
AF326987,
AK002022,
BC120997,
AY288928,
AK316152,
AK314497,
BC041575,
AK304503,
BK000392,
AL359384
Ensembl:
ENSG00000198246
KO:
hsa:55315
|
| Nucleutide sequences |
EMBL-CDS:
BAG37097.1,
AAI20997.1,
BAH14523.1,
AAH41575.1,
AAH00223.1,
AAI20998.1,
BAA92041.1,
DAA00364.1,
AAK00958.1,
AAQ89049.1,
BAG65311.1,
AAP41133.1
Gene_ORFName:
UNQ717/PRO1380
Ensembl_TRS:
ENST00000373189
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362285
RefSeq:
NP_001350447.1,
NP_060814.4,
NP_001167569.1,
XP_016871867.1,
XP_016871866.1
|
| Others |
UniRef100:
UniRef100_Q9BZD2
UniRef90:
UniRef90_Q9BZD2
UniRef50:
UniRef50_Q9BZD2
UniGene:
Hs.438419
CCDS:
CCDS7310.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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