| Type | Description |
|---|---|
| Definition | NIPA like domain containing 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:28:00 | Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. | 31876100 |
| 2020-05-09 10:27:00 | Results identified 16 novel mutations in NIPAL4 in a large cohort of families with autosomal recessive congenital ichthyosis (ARCI) and increase the total number of pathogenic mutations to 34. | 31347739 |
| 2019-07-06 11:04:00 | NIPAL4 mutations are associated with Ichthyotic Phenotype. | 29548991 |
| 2017-03-25 11:14:00 | Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma. | 27868142 |
| 2017-01-14 10:36:00 | We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis. | 26456858 |
| Type | IDs |
|---|---|
| Synonymous | ARCI6, ICHTHYIN, ICHYN |
| Gene |
UniProtKB-ID:
NIPA4_HUMAN
UniprotKB:
Q0D2K0
UniParc:
UPI00001D7EEA,
UPI000188444B
EMBL:
EF599766,
EF599765,
BC105709,
AK296972,
EF599764,
BC105710,
AC008676,
BC105708,
EF599763
Ensembl:
ENSG00000172548
KO:
hsa:348938
|
| Nucleutide sequences |
EMBL-CDS:
ABW69628.1,
AAI05711.1,
BAG59515.1,
ABW69629.1,
AAI05710.1,
ABW69630.1,
AAI05709.1
Ensembl_TRS:
ENST00000311946,
ENST00000435489
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000311687,
ENSP00000406456
RefSeq:
XP_011532854.1,
XP_024301811.1,
NP_001092757.2,
NP_001165763.1
|
| Others |
UniRef100:
UniRef100_Q0D2K0
UniRef90:
UniRef90_Q0D2K0
UniRef50:
UniRef50_Q0D2K0
UniGene:
Hs.4285
CCDS:
CCDS54944.1
|
| {{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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