| Type | Description |
|---|---|
| Definition | phosphodiesterase 1B |
| Date | Results | Publications |
|---|---|---|
| 2017-07-01 11:53:00 | The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations. | 28282490 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| 2010-01-21 00:00:00 | PDE1B2 regulates a subset of phenotypic changes that occur upon phorbol-12-myristate-13-acetate-induced differentiation and likely also plays a role in differentiated macrophages by regulating agonist-stimulated cGMP levels | 16407168 |
| 2010-01-21 00:00:00 | Selective up-regulation of PDE1B2 upon monocyte-to-macrophage differentiation. | 15625104 |
| Type | IDs |
|---|---|
| Synonymous | HEL-S-79p, PDE1B1, PDES1B |
| Gene |
UniProtKB-ID:
PDE1B_HUMAN,
B4DK72_HUMAN,
B3KX78_HUMAN,
A0A024RB59_HUMAN,
Q7Z364_HUMAN
UniprotKB:
Q01064,
B4DK72,
B3KX78,
A0A024RB59,
Q7Z364
UniParc:
UPI000003B376,
UPI00004A27A3,
UPI00017A755A,
UPI00001A9D96,
UPI0000001607
EMBL:
AK126899,
CH471054,
M94539,
BC032226,
AC079310,
AK296422,
U56976,
AJ401609,
U86078,
BX538092,
AK302899,
AC068789,
AK302931
Ensembl:
ENSG00000123360
KO:
hsa:5153
|
| Nucleutide sequences |
EMBL-CDS:
AAC51872.1,
AAA58405.1,
EAW96790.1,
CAC82207.1,
BAG64092.1,
AAC50769.1,
AAH32226.1,
BAG59084.1,
BAG54390.1,
EAW96791.1,
EAW96789.1,
EAW96788.1,
CAD98011.1,
BAG64072.1
Gene_ORFName:
hCG_21934
Ensembl_TRS:
ENST00000243052,
ENST00000550620,
ENST00000538346
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000448519,
ENSP00000243052,
ENSP00000442559
RefSeq:
NP_001159447.1,
XP_011536758.1,
NP_001302463.1,
NP_000915.1,
XP_016874922.1,
NP_001275697.1,
NP_001302464.1,
XP_016874921.1,
NP_001275698.1
|
| Others |
UniRef100:
UniRef100_Q01064,
UniRef100_B4DK72
UniRef90:
UniRef90_Q01064,
UniRef90_A0A2K6FKZ9
UniRef50:
UniRef50_Q01064-2,
UniRef50_Q01064
UniGene:
Hs.530871
CCDS:
CCDS53800.1,
CCDS8882.1
|
| {{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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