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Protein

Alpha- and gamma-adaptin-binding protein p34

Gene

AAGAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May be involved in endocytic recycling of growth factor receptors such as EGFR.1 Publication

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha- and gamma-adaptin-binding protein p34
Gene namesi
Name:AAGAB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000103591.12
HGNCiHGNC:25662 AAGAB
MIMi614888 gene
neXtProtiNX_Q6PD74

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Keratoderma, palmoplantar, punctate 1A (PPKP1A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.
See also OMIM:148600

Keywords - Diseasei

Palmoplantar keratoderma

Organism-specific databases

DisGeNETi79719
MalaCardsiAAGAB
MIMi148600 phenotype
OpenTargetsiENSG00000103591
Orphaneti79501 Punctate palmoplantar keratoderma type 1
PharmGKBiPA165478457

Polymorphism and mutation databases

DMDMi62286981

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000581341 – 315Alpha- and gamma-adaptin-binding protein p34Add BLAST315

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei310PhosphoserineCombined sources1
Modified residuei311PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6PD74
MaxQBiQ6PD74
PaxDbiQ6PD74
PeptideAtlasiQ6PD74
PRIDEiQ6PD74
ProteomicsDBi67069

PTM databases

iPTMnetiQ6PD74
PhosphoSitePlusiQ6PD74

Expressioni

Tissue specificityi

Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.2 Publications

Gene expression databases

BgeeiENSG00000103591 Expressed in 216 organ(s), highest expression level in anterior cingulate cortex
ExpressionAtlasiQ6PD74 baseline and differential
GenevisibleiQ6PD74 HS

Organism-specific databases

HPAiHPA039371
HPA040174

Interactioni

Subunit structurei

Associated with AP-1 and AP-2 complexes.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi122835, 22 interactors
IntActiQ6PD74, 9 interactors
STRINGi9606.ENSP00000261880

Structurei

3D structure databases

ProteinModelPortaliQ6PD74
SMRiQ6PD74
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG4273 Eukaryota
ENOG410XRVH LUCA
GeneTreeiENSGT00390000007218
HOGENOMiHOG000115322
InParanoidiQ6PD74
OMAiVMKNDRN
OrthoDBiEOG091G1A3H
PhylomeDBiQ6PD74
TreeFamiTF328856

Family and domain databases

InterProiView protein in InterPro
IPR019341 Alpha/Gamma-adaptin-bd_p34
PANTHERiPTHR14659 PTHR14659, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: Q6PD74-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID
60 70 80 90 100
NKYYSADINL CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP
110 120 130 140 150
LAKAWLPEVM ILVCDRVSED GINRQKAQEW CIKHGFELVE LSPEELPEED
160 170 180 190 200
DDFPESTGVK RIVQALNANV WSNVVMKNDR NQGFSLLNSL TGTNHSIGSA
210 220 230 240 250
DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP MLDLDIQELA
260 270 280 290 300
SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG
310
GDRDEIEGLS SDEEH
Length:315
Mass (Da):34,594
Last modified:July 5, 2004 - v1
Checksum:iC1C765B4F9717E0B
GO
Isoform 2 (identifier: Q6PD74-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.

Note: No experimental confirmation available.
Show »
Length:206
Mass (Da):22,719
Checksum:i28477F7B5DDAB3A1
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YL49H0YL49_HUMAN
Alpha- and gamma-adaptin-binding pr...
AAGAB
58Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26I → T in CAB66649 (PubMed:11230166).Curated1
Sequence conflicti26I → T in CAG38571 (Ref. 3) Curated1
Sequence conflicti77V → A in CAG38571 (Ref. 3) Curated1
Sequence conflicti88Q → R in CAB66649 (PubMed:11230166).Curated1
Sequence conflicti88Q → R in CAG38571 (Ref. 3) Curated1
Sequence conflicti131C → S in CAB66649 (PubMed:11230166).Curated1
Sequence conflicti131C → S in CAG38571 (Ref. 3) Curated1
Sequence conflicti265L → P in CAB66649 (PubMed:11230166).Curated1
Sequence conflicti265L → P in CAG38571 (Ref. 3) Curated1
Sequence conflicti313E → G in CAB66649 (PubMed:11230166).Curated1
Sequence conflicti313E → G in CAG38571 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021533132I → L3 PublicationsCorresponds to variant dbSNP:rs7173826Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0545971 – 109Missing in isoform 2. 1 PublicationAdd BLAST109

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136715 mRNA Translation: CAB66649.1
AK021568 mRNA Translation: BAB13845.1
AK294402 mRNA Translation: BAG57655.1
CR533540 mRNA Translation: CAG38571.1
AC012568 Genomic DNA No translation available.
AC110292 Genomic DNA No translation available.
BC001975 mRNA Translation: AAH01975.1
BC047026 mRNA Translation: AAH47026.1
BC058886 mRNA Translation: AAH58886.1
CCDSiCCDS42050.1 [Q6PD74-1]
CCDS61679.1 [Q6PD74-2]
RefSeqiNP_001258814.1, NM_001271885.1 [Q6PD74-2]
NP_001258815.1, NM_001271886.1 [Q6PD74-2]
NP_078942.3, NM_024666.4 [Q6PD74-1]
XP_011520322.1, XM_011522020.1 [Q6PD74-2]
UniGeneiHs.254642
Hs.602761

Genome annotation databases

EnsembliENST00000261880; ENSP00000261880; ENSG00000103591 [Q6PD74-1]
ENST00000542650; ENSP00000440735; ENSG00000103591 [Q6PD74-2]
ENST00000561452; ENSP00000453263; ENSG00000103591 [Q6PD74-2]
GeneIDi79719
KEGGihsa:79719
UCSCiuc002aqk.6 human [Q6PD74-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAAGAB_HUMAN
AccessioniPrimary (citable) accession number: Q6PD74
Secondary accession number(s): B4DG44
, Q6FI86, Q7Z5X9, Q9H0P1, Q9HAK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 122 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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