| Type | Description |
|---|---|
| Definition | adaptor related protein complex 4 subunit beta 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-02 12:50:00 | AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. | 32166732 |
| 2019-03-23 11:29:00 | AP4B1 mutation is associated with hereditary spastic paraplegia. | 30337681 |
| 2019-03-09 12:30:00 | AP4B1-associated HSP and other AP-4-deficiency syndromes should be suspected in infants and children with hypotonia progressing to spastic paraplegia, delayed motor and speech development, and suggestive findings on brain imaging particularly thinning of the posterior aspect of the corpus callosum. | 29193663 |
| 2019-03-02 10:05:00 | we report a novel AP4B1 homozygous mutation in two siblings and review the phenotype of AP-4 deficiency, speculating on a possible role of AP-4 complex in eye development. | 29430868 |
| 2015-10-03 11:31:00 | Novel homozygous 2-bp deletion in AP4B1 was found in siblings with intellectual disability and spastic tetraplegia. | 24781758 |
| Type | IDs |
|---|---|
| Synonymous | BETA-4, CPSQ5, SPG47 |
| Gene |
UniProtKB-ID:
AP4B1_HUMAN,
B3KSJ4_HUMAN,
B1ALD0_HUMAN,
A0A024R0J5_HUMAN,
B4DTG3_HUMAN
UniprotKB:
Q9Y6B7,
B3KSJ4,
B1ALD0,
A0A024R0J5,
B4DTG3
UniParc:
UPI0000072F63,
UPI0000470B48,
UPI000037286F,
UPI00017A7F85,
UPI0001915017
EMBL:
AF092094,
AL137856,
AB209817,
BC014146,
AK298037,
AK300204,
CH471122,
AK093740
Ensembl:
ENSG00000134262
KO:
hsa:10717
|
| Nucleutide sequences |
EMBL-CDS:
AAH14146.1,
BAD93054.1,
BAH12709.1,
AAD20448.1,
BAG52756.1,
EAW56580.1,
EAW56578.1,
EAW56579.1,
EAW56581.1,
BAG61975.1
Gene_ORFName:
hCG_38636
Ensembl_TRS:
ENST00000369569,
ENST00000256658,
ENST00000369567
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000256658,
ENSP00000358582,
ENSP00000358580
RefSeq:
NP_006585.2,
XP_016855581.1,
XP_011538825.1,
NP_001295241.1,
XP_024308190.1,
XP_024308191.1,
XP_024308209.1,
XP_016855582.1,
NP_001240782.1,
XP_016855580.1,
NP_001240781.1,
XP_016855579.1,
XP_024308203.1,
XP_016855578.1,
XP_011538827.1
|
| Others |
UniRef100:
UniRef100_Q9Y6B7,
UniRef100_B3KSJ4,
UniRef100_B1ALD0,
UniRef100_B4DTG3
UniRef90:
UniRef90_A0A2I3SAV3,
UniRef90_A0A287B2U5,
UniRef90_F1SBR2,
UniRef90_Q9Y6B7
UniRef50:
UniRef50_Q9Y6B7,
UniRef50_U3JLI9,
UniRef50_A0A3P9I2U4
UniGene:
Hs.515048
CCDS:
CCDS865.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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