| Type | Description |
|---|---|
| Definition | shroom family member 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-25 12:24:00 | The three genes associated with chronic kidney disease (AGT, GLO1, and SHROOM3) showed associations with both the high levels of oxidatively damaged DNA and genomic instability. | 32265040 |
| 2019-09-28 11:11:00 | We confirmed the interaction of endogenous SHROOM3 with FYN in podocytes via a critical Src homology 3-binding domain, distinct from its ROCK-binding domain. Shroom3-Fyn interaction was required in vitro and in vivo for activation of Fyn kinase and downstream nephrin phosphorylation in podocytes. | 30341149 |
| 2019-09-14 10:20:00 | We determined that coding variant P1244L attenuates the interaction of SHROOM3 with 14-3-3, suggesting alterations to the Hippo pathway, a known mediator of CKD. | 29476007 |
| 2019-04-06 11:35:00 | Functional variants were further confirmed by western blot and the mammalian two-hybrid assays. Loss of function (LoF) variants were identified in SHROOM3. We observed 1.56 times as many rare [minor allele frequency (MAF) < 0.01] coding variants (p = 2.9 x 10(-3)) in SHROOM genes, and 4.5 times as many rare D-Mis (deleterious missense) variants in SHROOM2 genes in the Neural tube defects cases compared with the controls | 29423651 |
| 2016-03-19 11:35:00 | Two protein-truncating de novo mutations in two independent cases in SHROOM3 strongly implicates this protein in severe human neural tube defects. | 25805808 |
| Type | IDs |
|---|---|
| Synonymous | APXL3, MSTP013, SHRM, ShrmL |
| Gene |
UniProtKB-ID:
SHRM3_HUMAN,
B3KY47_HUMAN
UniprotKB:
Q8TF72,
B3KY47
UniParc:
UPI0000E5AC1C,
UPI00001C0EFF,
UPI00004A29BA
EMBL:
AK128677,
BC007291,
AC112249,
AK127929,
AC107072,
AC096743,
AB055660,
AB040914,
AF109367,
AC121158,
AC107051
Ensembl:
ENSG00000138771
KO:
hsa:57619
|
| Nucleutide sequences |
EMBL-CDS:
AAH07291.1,
AAQ13515.1,
BAA96005.1,
BAB84689.1,
BAC87195.1,
BAG54709.1
Gene_ORFName:
MSTP013
Ensembl_TRS:
ENST00000296043
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000296043
RefSeq:
NP_065910.3
|
| Others |
UniRef100:
UniRef100_Q8TF72,
UniRef100_B3KY47
UniRef90:
UniRef90_Q8TF72
UniRef50:
UniRef50_Q9QXN0
UniGene:
Hs.702168
CCDS:
CCDS3579.2
|
| {{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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