| Type | Description |
|---|---|
| Definition | alpha and gamma adaptin binding protein |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:12:00 | AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer. | 31526046 |
| 2020-08-01 12:29:00 | Study reports the clinical and genetic features of a series of 16 unrelated pedigrees with autosomal dominant punctate palmoplantar keratoderma due to heterozygous mutations, five novel (seven families) and four recurrent (nine families), in AAGAB . | 30451279 |
| 2020-05-16 11:52:00 | In this work, however, we discovered that AP2 adaptor assembly is an ordered process controlled by alpha and gamma adaptin binding protein (AAGAB), an uncharacterized factor identified in our genome-wide genetic screen of clathrin-mediated endocytosis | 31353312 |
| 2017-01-28 11:38:00 | Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). | 26608363 |
| 2016-02-20 11:45:00 | we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. | 25771163 |
| Type | IDs |
|---|---|
| Synonymous | KPPP1, PPKP1, PPKP1A, p34 |
| Gene |
UniProtKB-ID:
AAGAB_HUMAN
UniprotKB:
Q6PD74
UniParc:
UPI000013D219,
UPI00017A6E09
EMBL:
CR533540,
BC047026,
AC012568,
BC001975,
AK021568,
BC058886,
AC110292,
AK294402,
AL136715
Ensembl:
ENSG00000103591
KO:
hsa:79719
|
| Nucleutide sequences |
EMBL-CDS:
BAB13845.1,
CAB66649.1,
BAG57655.1,
AAH58886.1,
AAH01975.1,
AAH47026.1,
CAG38571.1
Ensembl_TRS:
ENST00000561452,
ENST00000261880,
ENST00000542650
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261880,
ENSP00000440735,
ENSP00000453263
RefSeq:
XP_024305820.1,
XP_011520322.1,
XP_024305821.1,
NP_078942.3,
NP_001258814.1,
NP_001258815.1
|
| Others |
UniRef100:
UniRef100_Q6PD74
UniRef90:
UniRef90_Q6PD74
UniRef50:
UniRef50_Q6PD74
UniGene:
Hs.254642,
Hs.602761
CCDS:
CCDS61679.1,
CCDS42050.1
|
| {{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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