AP1G1 adaptor related protein complex 1 subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP1G1provided by HGNC
Official Full Name: adaptor related protein complex 1 subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:555
See related: Ensembl:ENSG00000166747 MIM:603533; AllianceGenome:HGNC:555
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADTG; CLAPG1; USRISD
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]
Expression: Ubiquitous expression in bone marrow (RPKM 21.3), testis (RPKM 19.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (71729000..71808834, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77546146..77626032, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (71762903..71842737, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endosomal protein expression of gamma1-adaptin is associated with tumor growth activity and relapse-free survival in breast cancer.
Title: Endosomal protein expression of γ1-adaptin is associated with tumor growth activity and relapse-free survival in breast cancer.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Title: De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Data indicate a functional link between adaptor protein complex 1 (AP-1) and the WD repeat protein 11 (WDR11) complex.
Title: The WDR11 complex facilitates the tethering of AP-1-derived vesicles.
High ASCT2 expression is associated with drug resistance head and neck squamous cell carcinoma.
Title: AP1G1 is involved in cetuximab-mediated downregulation of ASCT2-EGFR complex and sensitization of human head and neck squamous cell carcinoma cells to ROS-induced apoptosis.
Depletion of the gamma2 or mu1A (AP1M1) subunits of AP-1, but not of gamma1 (AP1G1), precludes Nef-mediated lysosomal degradation of CD4.
Title: CD4 downregulation by the HIV-1 protein Nef reveals distinct roles for the γ1 and γ2 subunits of the AP-1 complex in protein trafficking.
Interaction between Rab4b and AP1gamma allows the budding of clathrin-coated vesicles for subsequent traffic to recycling endosomes.
Title: Rab4b controls an early endosome sorting event by interacting with the γ-subunit of the clathrin adaptor complex 1.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Gamma-adaptin, a novel ubiquitin-interacting adaptor, and Nedd4 ubiquitin ligase control hepatitis B virus maturation
Title: Gamma-adaptin, a novel ubiquitin-interacting adaptor, and Nedd4 ubiquitin ligase control hepatitis B virus maturation.
Gamma-adaptin interacts directly with Rabaptin-5 through its ear domain.The interaction may play a role in membrane trafficking between the trans-Golgi network and endosomes.
Title: Gamma-adaptin interacts directly with Rabaptin-5 through its ear domain.
crystal structure of the human gamma 1-adaptin ear domain consists solely of an immunoglobulin-like fold, unlike the alpha-adaptin ear domain
Title: Structural basis for the accessory protein recruitment by the gamma-adaptin ear domain.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Usmani-Riazuddin syndrome, autosomal dominant MedGen: C5561952 OMIM: 619467 GeneReviews: Not available	not available
Usmani-Riazuddin syndrome, autosomal recessive MedGen: C5561994 OMIM: 619548 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes	PubMed
	env	The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes	PubMed
Nef	nef	Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells	PubMed
	nef	HIV-1 Nef interaction with AP-1gamma is required for CD28 and CD8beta downregulation	PubMed
	nef	Exogenous Nef and TNF-alpha synergistically activate NF-kappaB and AP-1 resulting in enhancing viral replication in both chronically infected promonocytic cells and acutely infected primary macrophages	PubMed
	nef	Mutating three amino acids (Y320, A324, and D327) in the cytoplasmic tail of HLA-A2 abrogates Nef-induced downregulation of HLA-A2 through a failuer to recruit the mu1 or gamma subunits of AP-1	PubMed
	nef	Knocking down either AP-1 gamma, AP-1 mu1, or clathrin strongly inhibits Nef-induced downregulation of HLA-A2	PubMed
	nef	HIV-1 Nef stabilizes the association of AP-1 with membranes; the dileucine residues (164-165) in Nef are required for Nef binding and stabilization of the AP-1 complexes	PubMed
	nef	HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment	PubMed
Vpu	vpu	Vpu interacts with clathrin adaptors AP1G1 and AP2A1 in tetherin-expressing cells and this interaction is regulated by serine phosphorylation of Vpu and Vpu binding to BST2 (tetherin)	PubMed
	vpu	Crystal structure indicates that Vpu L66 and V67 embed into the hydrophobic pocket on AP1 sigma 1 to accommodate the canonical dileucine residues, while Vpu E62 forms a salt bridge with R15 of AP1 gamma 1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65105 (e-PCR)
- UniSTS:86800

RH48231 (e-PCR)
- UniSTS:92986

D16S3294 (e-PCR)
- UniSTS:41816

RH65224 (e-PCR)
- UniSTS:89180

SHGC-60759 (e-PCR)
- UniSTS:63399

SHGC-61470 (e-PCR)
- UniSTS:45544

D16S2532E (e-PCR)
- UniSTS:473342

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables collagen binding	IEA Inferred from Electronic Annotation more info
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi to vacuole transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in basolateral protein secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in endosome to melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in melanosome organization	IC Inferred by Curator more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of natural killer cell degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle budding from endosome	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-1 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-1 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network membrane	NAS Non-traceable Author Statement more info	PubMed
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: AP-1 complex subunit gamma-1

Names: adapter-related protein complex 1 subunit gamma-1; adaptor protein complex AP-1 subunit gamma-1; adaptor related protein complex 1 gamma 1 subunit; clathrin assembly protein complex 1 gamma large chain; clathrin assembly protein complex 1 gamma-1 large chain; clathrin-associated/assembly/adaptor protein, large, gamma 1; gamma adaptin; gamma1-adaptin; golgi adaptor HA1/AP1 adaptin gamma subunit; golgi adaptor HA1/AP1 adaptin subunit gamma-1; testicular tissue protein Li 21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001030007.2 → NP_001025178.1 AP-1 complex subunit gamma-1 isoform a

See identical proteins and their annotated locations for NP_001025178.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC009097, BC036283, BU902252

Consensus CDS

CCDS45522.1

UniProtKB/TrEMBL

A0A140VJE7, Q8IY97

Related

ENSP00000377148.3, ENST00000393512.7

Conserved Domains (4) summary

smart00809
Location:712 → 820

Alpha_adaptinC2; Adaptin C-terminal domain

pfam05109
Location:593 → 654

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

sd00044
Location:142 → 163

HEAT; HEAT repeat [structural motif]

pfam01602
Location:23 → 577

Adaptin_N; Adaptin N terminal region
NM_001128.6 → NP_001119.3 AP-1 complex subunit gamma-1 isoform b

See identical proteins and their annotated locations for NP_001119.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AB015317, AC009097, BC036283, BU902252

Consensus CDS

CCDS32480.1

UniProtKB/Swiss-Prot

O43747, O75709, O75842, Q9UG09, Q9Y3U4

UniProtKB/TrEMBL

Q8IY97

Related

ENSP00000299980.4, ENST00000299980.9

Conserved Domains (4) summary

smart00809
Location:709 → 817

Alpha_adaptinC2; Adaptin C-terminal domain

pfam05109
Location:590 → 651

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

sd00044
Location:142 → 163

HEAT; HEAT repeat [structural motif]

pfam01602
Location:23 → 574

Adaptin_N; Adaptin N terminal region