AP1G1

adaptor related protein complex 1 subunit gamma 1

2 disorders 2 causative 16q22.2 gene with protein product

HGNC:555 Monarch NCBI Gene 164 ENSG00000166747 UniProt O43747 OMIM 603533

Previous symbols: CLAPG1, ADTG.

Normal function · from ai-gene-review (O43747, commit 79fe13b38970) · AI-generated, not KB evidence

AP1G1 encodes gamma-1 adaptin, a large subunit of the heterotetrameric AP-1 clathrin adaptor complex. It helps couple cargo sorting at the trans-Golgi network and endosomes to coat assembly: the gamma/sigma hemicomplex recognizes acidic dileucine signals, while gamma hinge and appendage regions engage clathrin and accessory proteins. AP-1 cycles between cytosol and peripheral membrane coats and supports intracellular vesicular transport and recycling. Gamma-1 participates in specialized routes to melanosomes and lytic granules, and in the epithelial AP-1B complex. Pathogenic AP1G1 variants can disturb endosomal recycling and cause neurodevelopmental disease.

Contributes gamma-1 to the AP-1 clathrin-cargo adaptor: cargo recognition occurs with sigma, while gamma coat/accessory contacts support assembly and regulated membrane recruitment. Human gamma cargo-recognition and ear-structure evidence is distinguished from mouse gamma clathrin and mixed-species core reconstitution; the activity belongs to the assembled adaptor rather than autonomous gamma.

contributes to molecular function: clathrin-cargo adaptor activity · directly involved in: intracellular protein transport · locations: trans-Golgi network membrane; recycling endosome; clathrin-coated vesicle membrane · in complex: AP-1 adaptor complex

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Usmani-Riazuddin Syndrome, Autosomal Dominant	causative de novo dominant negativeloss of function	mechanism: AP1G1 Haploinsufficiency; Dominant-Negative Gamma-1 Adaptin Missense Protein
Usmani-Riazuddin Syndrome, Autosomal Recessive	causative germline partial loss of function	mechanism: Biallelic AP1G1 Missense Substitution

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
complex neurodevelopmental disorder MONDO:0100038	AD	Strong 2022-11-02	no dismech entry
complex neurodevelopmental disorder MONDO:0100038	AR	Limited 2022-11-02	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.