| Type | Description |
|---|---|
| Definition | uroporphyrinogen III synthase |
| Date | Results | Publications |
|---|---|---|
| 2020-07-04 12:44:00 | These results expand the molecular heterogeneity of the erythropoietic porphyrias by adding a total of 7 novel mutations in uroporphyrinogen III synthase. | 30454868 |
| 2017-05-20 14:00:00 | we show evidence that abnormal protein homeostasis is a prevalent mechanism responsible for deficiency and that modulators of Uduanyu1670 proteolysis such as proteasome inhibitors or chemical chaperones may represent an attractive therapeutic option to reduce porphyrin accumulation and prevent skin photosensitivity in Congenital erythropoietic porphyria (CEP)patients when the genotype includes a missense variant. | 28334762 |
| 2012-08-18 10:18:00 | A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in a family with congenital erythropoietic porphyria. | 22350154 |
| 2012-02-18 11:42:00 | REVIEW: Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase and molecular basis of congenital erythropoietic porphyria | 21570665 |
| 2011-07-02 10:03:00 | Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. | 21343304 |
| Type | IDs |
|---|---|
| Synonymous | UROIIIS |
| Gene |
UniProtKB-ID:
HEM4_HUMAN,
Q5T3L8_HUMAN,
A0A3B3ISM6_HUMAN,
A0A3B3ITJ2_HUMAN,
A0A0S2Z4T8_HUMAN,
A0A0S2Z5C5_HUMAN
UniprotKB:
P10746,
Q5T3L8,
A0A3B3ISM6,
A0A3B3ITJ2,
A0A0S2Z4T8,
A0A0S2Z5C5
UniParc:
UPI000721E435,
UPI000387C994,
UPI000387C3C5,
UPI000012C4A4,
UPI000046FFD2
EMBL:
KU178377,
AL360176,
AH010036,
AK314896,
BC002573,
AF230665,
KU178378,
J03824,
CH471066
Ensembl:
ENSG00000188690
KO:
hsa:7390
|
| Nucleutide sequences |
EMBL-CDS:
AAG36794.1,
AAA60273.1,
AAG36795.1,
AAH02573.1,
EAW49221.1,
EAW49222.1,
BAG37410.1,
EAW49224.1,
EAW49229.1,
ALQ33835.1,
ALQ33836.1
Gene_ORFName:
hCG_1727047
Ensembl_TRS:
ENST00000368797,
ENST00000368786,
ENST00000648427,
ENST00000368778,
ENST00000650587,
ENST00000649536
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000357775,
ENSP00000357787,
ENSP00000357767,
ENSP00000497909,
ENSP00000497366,
ENSP00000497817
RefSeq:
NP_000366.1,
XP_016872100.2,
XP_005270197.1,
NP_001310967.1,
NP_001310966.1,
XP_024303922.1,
NP_001310965.1,
XP_024303923.1,
XP_011538429.1,
NP_001310968.1,
XP_016872101.1
|
| Others |
UniRef100:
UniRef100_A0A0S2Z5C5,
UniRef100_A0A3B3ISM6,
UniRef100_A0A3B3ITJ2,
UniRef100_P10746,
UniRef100_Q5T3L8
UniRef90:
UniRef90_P10746,
UniRef90_A0A0S2Z5C5,
UniRef90_Q5T3L8
UniRef50:
UniRef50_Q5T3L8,
UniRef50_P10746
UniGene:
Hs.501376
CCDS:
CCDS7648.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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