| Type | Description |
|---|---|
| Definition | transmembrane protein 53 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:18:00 | Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. | 33824347 |
| Type | IDs |
|---|---|
| Synonymous | NET4 |
| Gene |
UniProtKB-ID:
TMM53_HUMAN,
B4DI10_HUMAN,
Q5TDE2_HUMAN
UniprotKB:
Q6P2H8,
B4DI10,
Q5TDE2
UniParc:
UPI00017A715A,
UPI00004C3DF6,
UPI0000470ADE,
UPI000013E157
EMBL:
AK295356,
AK296548,
AK026006,
CR457348,
AL832539,
AL122004,
CH471059,
BC064520
Ensembl:
ENSG00000126106
KO:
hsa:79639
|
| Nucleutide sequences |
EMBL-CDS:
EAX07029.1,
AAH64520.1,
CAG33629.1,
BAB15317.1,
BAG59172.1,
CAI46125.1,
BAG58322.1
Ensembl_TRS:
ENST00000372237,
ENST00000372235
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000361311,
ENSP00000361309
RefSeq:
NP_001287675.1,
NP_001287676.1,
NP_078863.2,
NP_001287677.1,
XP_011540440.1
|
| Others |
UniRef100:
UniRef100_Q5TDE2,
UniRef100_Q6P2H8
UniRef90:
UniRef90_Q6P2H8,
UniRef90_Q5TDE2
UniRef50:
UniRef50_Q5TDE2,
UniRef50_Q6P2H8
UniGene:
Hs.22157
CCDS:
CCDS511.1
|
| {{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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