| Type | Description |
|---|---|
| Definition | KIAA0753 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-13 10:48:00 | We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. | 29138412 |
| 2017-06-24 10:14:00 | Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16 | 28220259 |
| Type | IDs |
|---|---|
| Synonymous | MNR, OFIP |
| Gene |
UniProtKB-ID:
MOONR_HUMAN
UniprotKB:
Q2KHM9
UniParc:
UPI0000E0305C,
UPI000013D2BF
EMBL:
AK292876,
AC015916,
AK296971,
BC113017,
AC004706,
BC113016,
AL080108,
AB018296
Ensembl:
ENSG00000198920
KO:
hsa:9851
|
| Nucleutide sequences |
EMBL-CDS:
BAH12465.1,
BAF85565.1,
AAI13017.1,
CAB45712.1,
AAI13018.1,
BAA34473.2
Ensembl_TRS:
ENST00000361413,
ENST00000572370
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000460050,
ENSP00000355250
RefSeq:
XP_011522401.1,
NP_055619.2,
NP_001338154.1,
XP_011522402.1,
XP_011522397.1,
XP_011522393.1,
XP_011522400.1,
XP_016880944.1,
XP_006721675.1,
XP_011522398.1,
XP_011522392.1
|
| Others |
UniRef100:
UniRef100_Q2KHM9
UniRef90:
UniRef90_Q2KHM9
UniRef50:
UniRef50_Q2KHM9
UniGene:
Hs.28070
CCDS:
CCDS42247.1,
CCDS86564.1
|
| {{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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