| Type | Description |
|---|---|
| Definition | adaptor related protein complex 4 subunit epsilon 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:30:00 | Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. | 32979048 |
| 2020-08-01 10:58:00 | We evaluated 51 stuttering individuals with a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant. | 31003007 |
| 2016-05-14 10:49:00 | The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4. | 26542808 |
| 2016-02-27 10:16:00 | Rare Variants in AP4E1 is associated with deficits in intracellular trafficking, and Persistent Stuttering. | 26544806 |
| 2011-06-04 10:51:00 | An autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1. | 20972249 |
| Type | IDs |
|---|---|
| Synonymous | CPSQ4, SPG51, STUT1 |
| Gene |
UniProtKB-ID:
AP4E1_HUMAN,
B4DM48_HUMAN
UniprotKB:
Q9UPM8,
B4DM48
UniParc:
UPI00017A751E,
UPI00001D89D8,
UPI00022F8518
EMBL:
AC021752,
AB030653,
CR749604,
AC073964,
AC022407,
AK297290,
CH471082,
AF155156,
BC130466,
BC126308
Ensembl:
ENSG00000081014
KO:
hsa:23431
|
| Nucleutide sequences |
EMBL-CDS:
EAW77411.1,
BAA82969.1,
AAD43326.2,
AAI26309.1,
AAI30467.1,
CAH18399.1,
BAG59760.1
Ensembl_TRS:
ENST00000261842,
ENST00000560508
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261842,
ENSP00000452976
RefSeq:
XP_006720510.1,
NP_031373.2,
NP_001239056.1,
XP_016877531.1,
XP_005254321.1
|
| Others |
UniRef100:
UniRef100_Q9UPM8,
UniRef100_B4DM48
UniRef90:
UniRef90_A0A5E4AIN3,
UniRef90_Q9UPM8
UniRef50:
UniRef50_A0A2U3YC26,
UniRef50_Q9UPM8
UniGene:
Hs.413366
CCDS:
CCDS58362.1,
CCDS32240.1
|
| {{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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