Seroatlas · Human Serome Atlas

AAGAB

Alpha- and gamma-adaptin-binding protein p34

Also known as: AAGAB_HUMAN, FLJ11506, p34

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6PD74
Gene: AAGAB
Ensembl: ENSG00000103591
Chromosome: 15
Canonical length: 315 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nuclear speckles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

315 residues, UniProt reviewed canonical sequence.

>Q6PD74|AAGAB
     1  MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID NKYYSADINL
    61  CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP LAKAWLPEVM ILVCDRVSED
   121  GINRQKAQEW CIKHGFELVE LSPEELPEED DDFPESTGVK RIVQALNANV WSNVVMKNDR
   181  NQGFSLLNSL TGTNHSIGSA DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP
   241  MLDLDIQELA SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG
   301  GDRDEIEGLS SDEEH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AAGAB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 33 nTPM
rectum: 32 nTPM
thyroid gland: 31 nTPM
skeletal muscle: 30 nTPM
thymus: 28 nTPM
choroid plexus: 27 nTPM

Single-cell type

choroid plexus epithelial cells: 120 nCPM
lactotrophs: 114 nCPM
gonadotrophs: 111 nCPM
renal collecting duct principal cells: 103 nCPM
respiratory ciliated cells: 99 nCPM
somatotrophs: 99 nCPM

Immune cell

basophil: 56 nTPM
NK-cell: 43 nTPM
non-classical monocyte: 38 nTPM
T-reg: 37 nTPM
MAIT T-cell: 36 nTPM
intermediate monocyte: 35 nTPM

Brain region

thalamus: 49 nTPM
hypothalamus: 48 nTPM
cerebral cortex: 46 nTPM
basal ganglia: 42 nTPM
choroid plexus: 42 nTPM
midbrain: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AAGAB.

Disease | AllUniProt

Conditions AAGAB is implicated in, by any mechanism.

Keratoderma, palmoplantar, punctate 1A (PPKP1A) MIM:148600

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 147 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Palmoplantar keratoderma, punctate type 1A
Palmoplantar keratoderma
Colon adenocarcinoma
AAGAB-related disorder
Neoplasm of the endocrine system

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.04
gnomAD pLI: 0
gnomAD missense Z: -0.88
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

protein transport

Cellular components

Protein domainsUniProt · Pfam · InterPro

Alpha/gamma-adaptin-binding protein p34
Alpha and gamma adaptin binding protein p34

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AAGAB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AAGAB as an antibody target. Whether an autoantibody or antibody against AAGAB could matter depends on whether native AAGAB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AAGAB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AAGAB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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