AP1G1 - adaptor related protein complex 1 subunit gamma 1 Gene

Also Known as ADTG; CLAPG1; USRISD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 164

About AP1G1

Cytogenetic location: 16q22.2 Genomic coordinates (GRCh38): 16:71,729,000-71,808,834 (from NCBI)

This gene has 22 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 21.3), testis (RPKM 19.3) and 25 other tissues.

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, 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]

AP1G1 Products (2)

mRNA	Protein	Name
NM_001030007.2	NP_001025178.1	AP-1 complex subunit gamma-1 isoform a
NM_001128.6	NP_001119.3	AP-1 complex subunit gamma-1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables GTP-dependent protein binding	IPI IPI: Inferred from physical interaction	22511774	GOA
enables kinesin binding	IPI IPI: Inferred from physical interaction	19841138	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12505986	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22511774	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in Golgi to lysosome transport	IMP IMP: Inferred from mutant phenotype	23632890	GOA
involved in endosome to melanosome transport	IMP IMP: Inferred from mutant phenotype	22511774	GOA
involved in positive regulation of natural killer cell degranulation	IMP IMP: Inferred from mutant phenotype	23632890	GOA
involved in positive regulation of natural killer cell mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	23632890	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9733768	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	12536145	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	19841138	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP1G1 Protein Structure

Adaptin_N

Alpha_adaptinC2

0
200
400
600
822 a.a.

Protein Preferred Names	Protein Names
AP-1 complex subunit gamma-1	adapter-related protein complex 1 subunit gamma-1

AP1G1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	AP1G1	O43747	AP1S2	Homo sapiens	P56377	Y2H Array	29892012
Intra	AP1G1	O43747	RABEP1	Homo sapiens	Q15276	Affinity Chrom	12505986

Cross: Cross-species interaction Intra: Intraspecies interaction

AP1G1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83248	gamma Adaptin Antibody (YA2993)	WB, IHC-P	Human, Mouse, Rat
HY-P87158	gamma Adaptin Antibody (YA6851)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Usmani-Riazuddin Syndrome, Autosomal Dominant	USRISD
Usmani-Riazuddin Syndrome, Autosomal Recessive	USRISR
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS00777	AP1G1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AP1G1	VGNC	VGNC:37952
Felis catus	AP1G1	VGNC	VGNC:67721
Macaca mulatta	AP1G1	VGNC	VGNC:69958
Bos taurus	AP1G1	VGNC	VGNC:25977
Mus musculus	AP1G1	MGD	MGI:101919
Rattus norvegicus	AP1G1	RGD	RGD:619785
Others	AP1G1	NCBI