| Type | Description |
|---|---|
| Definition | nuclear RNA export factor 5 |
| Date | Results | Publications |
|---|---|---|
| 2014-03-22 11:10:00 | study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role | 23686279 |
| 2010-01-21 00:00:00 | Mutations of the NXF5 gene is associated with X-linked mental retardation | 12784308 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
NXF5_HUMAN
UniprotKB:
Q9H1B4
UniParc:
UPI000002B000,
UPI000002B001,
UPI000002AFFF,
UPI000002B002,
UPI0000F059DC,
UPI0000130AB2
EMBL:
AJ277658,
AJ277655,
AJ277654,
BC131708,
AJ277656,
Z70228,
AL672207,
AJ277657
Ensembl:
ENSG00000126952
KO:
hsa:55998
|
| Nucleutide sequences |
EMBL-CDS:
CAC20429.1,
CAC20430.1,
CAI42477.1,
CAI42476.1,
AAI31709.1,
CAC20432.1,
CAC20431.1,
CAC20428.1,
CAI42475.1,
CAI42478.1
Ensembl_TRS:
ENST00000473265
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000426978
RefSeq:
NP_116564.2,
XP_024308175.1
|
| Others |
UniRef100:
UniRef100_Q9H1B4
UniRef90:
UniRef90_Q9H1B4
UniRef50:
UniRef50_Q9H1B4
UniGene:
Hs.307077
CCDS:
CCDS14491.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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