| Type | Description |
|---|---|
| Definition | ring finger and SPRY domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-14 11:51:00 | we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability. | 30063090 |
| 2016-01-16 12:23:00 | RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia. | 26365341 |
| Type | IDs |
|---|---|
| Synonymous | SEMDFA |
| Gene |
UniProtKB-ID:
RSPRY_HUMAN,
A0A024R6U0_HUMAN
UniprotKB:
Q96DX4,
A0A024R6U0
UniParc:
UPI0000049E08,
UPI000006E516
EMBL:
AY358548,
BC013173,
AB075852,
AK172845,
CH471092,
AL834402
Ensembl:
ENSG00000159579
KO:
hsa:89970
|
| Nucleutide sequences |
EMBL-CDS:
AAQ88912.1,
BAD18809.1,
CAD39064.1,
AAH13173.1,
BAB85558.1,
EAW82909.1,
EAW82911.1,
EAW82910.1
Gene_ORFName:
UNQ328/PRO444,
hCG_23907
Ensembl_TRS:
ENST00000394420,
ENST00000537866
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000443176,
ENSP00000377942
RefSeq:
XP_011521730.1,
NP_001292111.1,
XP_005256277.1,
XP_024306251.1,
XP_016879333.1,
NP_588609.1,
NP_001292093.1,
XP_011521732.1,
XP_011521729.1,
XP_024306250.1,
XP_024306252.1,
NP_001292092.1
|
| Others |
UniRef100:
UniRef100_Q96DX4
UniRef90:
UniRef90_Q8BVR6
UniRef50:
UniRef50_Q8BVR6
UniGene:
Hs.460885
CCDS:
CCDS10775.1
|
| {{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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