Gene Gene information from NCBI Gene database.
Entrez ID 164
Gene name Adaptor related protein complex 1 subunit gamma 1
Gene symbol AP1G1
Synonyms (NCBI Gene)
ADTGCLAPG1USRISD
Chromosome 16
Chromosome location 16q22.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
1025
miRTarBase ID miRNA Experiments Reference
MIRT020626 hsa-miR-155-5p Proteomics 18668040
MIRT021107 hsa-miR-186-5p Sequencing 20371350
MIRT021529 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT027293 hsa-miR-101-3p Sequencing 20371350
MIRT027948 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 12505986, 15598649, 16162817, 19116314, 25416956, 26496610, 28514442, 29892012, 32296183, 32814053, 33961781
GO:0005518 Function Collagen binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 9733768
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603533 555 ENSG00000166747
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43747
Protein name AP-1 complex subunit gamma-1 (Adaptor protein complex AP-1 subunit gamma-1) (Adaptor-related protein complex 1 subunit gamma-1) (Clathrin assembly protein complex 1 gamma-1 large chain) (Gamma1-adaptin) (Golgi adaptor HA1/AP1 adaptin subunit gamma-1)
Protein function Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognitio
PDB 1IU1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01602 Adaptin_N 23 574 Adaptin N terminal region Family
PF02883 Alpha_adaptinC2 705 817 Adaptin C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLG
YPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQG
LALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATK
NLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGI
SDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIK
SESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVS
IKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHID
TIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCI
GEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCT
VNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYD
HMRSALLERMPVMEKVTTNGPTEIVQ
TNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLL
GDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFT
FERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQ
VIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFP
PQSWQ
Sequence length 822
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Human immunodeficiency virus 1 infection
  Nef mediated downregulation of MHC class I complex cell surface expression
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder Likely pathogenic rs2145462890 RCV001780069
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usmani-Riazuddin syndrome, autosomal dominant Pathogenic; Likely pathogenic rs2145525136, rs2145525133, rs2032319236, rs1333884260, rs2543526102, rs2543500655 RCV001728060
RCV001728061
RCV002287591
RCV002287598
RCV003991051
RCV003986071
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usmani-Riazuddin syndrome, autosomal recessive Pathogenic rs2145472327, rs2543526102 RCV001728062
RCV003315477
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AP1G1-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 30840267
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 31002129
★☆☆☆☆
Found in Text Mining only