| Type | Description |
|---|---|
| Definition | required for meiotic nuclear division 1 homolog |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. | 32911714 |
| 2020-04-18 10:46:00 | The study shows that an association of theRMND1/CCDC170-ESR1 single nucleotide polymorphisms can exist with osteopenia, osteoporosis, or fragility fracture. | 30601066 |
| 2020-02-15 12:55:00 | RFX3 plays a role in RMND1 expression. | 31237926 |
| 2019-11-16 10:23:00 | We suggest that patients with Perrault syndrome are screened for variants in RMND1 along side the known Perrault syndrome genes.Renal phenotypes in women with Perrault syndrome features may indicate the causative variant is in RMND1 but the absence of renal dysfunction should not preclude RMND1 screening | 29671881 |
| 2016-10-22 12:32:00 | Hearing impairment and renal failure are associated with RMND1 mutations. | 26395190 |
| Type | IDs |
|---|---|
| Synonymous | C6orf96, COXPD11, RMD1, bA351K16, bA351K16.3 |
| Gene |
UniProtKB-ID:
RMND1_HUMAN,
A0A087WXU0_HUMAN
UniprotKB:
Q9NWS8,
A0A087WXU0
UniParc:
UPI000014138B,
UPI0002A12044,
UPI00001AEAE1,
UPI000006DC2F
EMBL:
BC119683,
AL590543,
AK000634,
CH471051,
BC012081,
AL590413,
BC106065,
AK292339
Ensembl:
ENSG00000155906
KO:
hsa:55005
|
| Nucleutide sequences |
EMBL-CDS:
BAA91299.1,
AAI06066.1,
AAI19684.1,
BAF85028.1,
AAH12081.1,
EAW47747.1
Ensembl_TRS:
ENST00000444024,
ENST00000491268,
ENST00000622845
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000412708,
ENSP00000494948,
ENSP00000481280
RefSeq:
NP_001258866.1,
NP_060379.2,
XP_005267097.1,
XP_016866477.1
|
| Others |
UniRef100:
UniRef100_Q9NWS8
UniRef90:
UniRef90_Q9NWS8
UniRef50:
UniRef50_Q9NWS8
UniGene:
Hs.486835,
Hs.744622
CCDS:
CCDS5232.1
|
| {{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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