| Type | Description |
|---|---|
| Definition | adaptor related protein complex 4 subunit mu 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 11:29:00 | AP4M1 mutation is associated with hereditary spastic paraplegia. | 30337681 |
| 2019-01-19 10:09:00 | Here, the authors demonstrate that dileucine motifs in the hepatitis C virus NS2 protein mediate AP-1A, AP-1B, and AP-4 binding and cell-free virus release. Moreover, they reveal that AP-4, an adaptor not previously implicated in viral infections, mediates cell-to-cell spread and hepatitis C virus trafficking. | 29535204 |
| 2015-02-21 11:03:00 | analysis of the AP4M1 mutation associated with aggressive behavior in addition to mild dysmorphic features, intellectual disability, spastic paraparesis and reduced head circumference [case report] | 25496299 |
| 2010-01-21 00:00:00 | In all five patients with autosomal-recessive type of tetraplegic cerebral palsy with mental retardation, a donor splice site pathogenic mutation in intron 14 of the AP4M1 gene (c.1137+1G-->T), was identified. | 19559397 |
| 2010-01-21 00:00:00 | AP-4 protein complex is involved in the regulation of somatodendritic-specific distribution of its cargo proteins including AMPA receptors. | 18341993 |
| Type | IDs |
|---|---|
| Synonymous | CPSQ3, MU-4, MU-ARP2, SPG50 |
| Gene |
UniProtKB-ID:
AP4M1_HUMAN,
C9JC87_HUMAN
UniprotKB:
O00189,
C9JC87
UniParc:
UPI000006D1C7,
UPI0000D4ED17
EMBL:
AF020796,
AC073842,
Y08387,
BC018705,
CH471091,
AF155158
Ensembl:
ENSG00000221838
KO:
hsa:9179
|
| Nucleutide sequences |
EMBL-CDS:
AAD25869.1,
AAH18705.1,
EAW76594.1,
EAW76597.1,
AAD43328.1,
CAA69667.1
Ensembl_TRS:
ENST00000359593,
ENST00000421755,
ENST00000429084
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000352603,
ENSP00000412185,
ENSP00000403663
RefSeq:
XP_024302764.1,
XP_006716238.1,
XP_005250747.1,
NP_004713.2,
XP_016868279.1,
XP_005250746.1,
NP_001350600.1,
XP_016868280.1,
XP_024302763.1
|
| Others |
UniRef100:
UniRef100_O00189,
UniRef100_C9JC87
UniRef90:
UniRef90_O00189,
UniRef90_A0A2I3SBC8
UniRef50:
UniRef50_O00189
UniGene:
Hs.632317
CCDS:
CCDS5685.1
|
| {{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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