Seroatlas · Human Serome Atlas

AP1G1

AP-1 complex subunit gamma-1

Also known as: ADTG, AP1G1_HUMAN, CLAPG1

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

Protein identityUniProt · HPA

UniProt accession: O43747
Gene: AP1G1
Ensembl: ENSG00000166747
Chromosome: 16
Canonical length: 822 aa
Protein class: Disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Golgi apparatus,Vesicles,Cytosol

OverviewNCBI Gene

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

822 residues, UniProt reviewed canonical sequence.

>O43747|AP1G1
     1  MPAPIRLREL IRTIRTARTQ AEEREMIQKE CAAIRSSFRE EDNTYRCRNV AKLLYMHMLG
    61  YPAHFGQLEC LKLIASQKFT DKRIGYLGAM LLLDERQDVH LLMTNCIKND LNHSTQFVQG
   121  LALCTLGCMG SSEMCRDLAG EVEKLLKTSN SYLRKKAALC AVHVIRKVPE LMEMFLPATK
   181  NLLNEKNHGV LHTSVVLLTE MCERSPDMLA HFRKLVPQLV RILKNLIMSG YSPEHDVSGI
   241  SDPFLQVRIL RLLRILGRND DDSSEAMNDI LAQVATNTET SKNVGNAILY ETVLTIMDIK
   301  SESGLRVLAI NILGRFLLNN DKNIRYVALT SLLKTVQTDH NAVQRHRSTI VDCLKDLDVS
   361  IKRRAMELSF ALVNGNNIRG MMKELLYFLD SCEPEFKADC ASGIFLAAEK YAPSKRWHID
   421  TIMRVLTTAG SYVRDDAVPN LIQLITNSVE MHAYTVQRLY KAILGDYSQQ PLVQVAAWCI
   481  GEYGDLLVSG QCEEEEPIQV TEDEVLDILE SVLISNMSTS VTRGYALTAI MKLSTRFTCT
   541  VNRIKKVVSI YGSSIDVELQ QRAVEYNALF KKYDHMRSAL LERMPVMEKV TTNGPTEIVQ
   601  TNGETEPAPL ETKPPPSGPQ PTSQANDLLD LLGGNDITPV IPTAPTSKPS SAGGELLDLL
   661  GDINLTGAPA AAPAPASVPQ ISQPPFLLDG LSSQPLFNDI AAGIPSITAY SKNGLKIEFT
   721  FERSNTNPSV TVITIQASNS TELDMTDFVF QAAVPKTFQL QLLSPSSSIV PAFNTGTITQ
   781  VIKVLNPQKQ QLRMRIKLTY NHKGSAMQDL AEVNNFPPQS WQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP1G1 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): 0.32
Highest tissue expression: 72 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 72 nTPM
retina: 49 nTPM
parathyroid gland: 38 nTPM
tongue: 34 nTPM
kidney: 34 nTPM
liver: 31 nTPM

Single-cell type

neutrophils: 727 nCPM
endometrial glandular cells: 293 nCPM
early spermatids: 273 nCPM
neutrophil progenitors: 267 nCPM
monocytes: 177 nCPM
endometrial luminal cells: 171 nCPM

Immune cell

neutrophil: 14 nTPM
eosinophil: 9.7 nTPM
myeloid DC: 7.4 nTPM
intermediate monocyte: 7.3 nTPM
memory CD8 T-cell: 7.2 nTPM
classical monocyte: 6.7 nTPM

Brain region

choroid plexus: 78 nTPM
white matter: 68 nTPM
cerebellum: 62 nTPM
cerebral cortex: 58 nTPM
hippocampal formation: 56 nTPM
thalamus: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP1G1.

Disease | AllUniProt

Conditions AP1G1 is implicated in, by any mechanism.

Usmani-Riazuddin syndrome, autosomal dominant (USRISD) MIM:619467
Usmani-Riazuddin syndrome, autosomal recessive (USRISR) MIM:619548

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 220 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
Inborn genetic diseases
Neurodevelopmental disorder
See cases

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 2.98
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AP1G1 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 AP1G1 as an antibody target. Whether an autoantibody or antibody against AP1G1 could matter depends on whether native AP1G1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AP1G1 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 AP1G1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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