• Gene id: 164

Gene Summary

• Gene Symbol: AP1G1   Gene   UCSC   Ensembl
• Aliases: ADTG, CLAPG1
• Gene name: adaptor related protein complex 1 subunit gamma 1
• Alternate names: AP-1 complex subunit gamma-1, 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 c,
• Gene location: 16q22.2 (45539481: 45534195)     Exons: 3     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 603533

SNPs

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: O43747  
  • 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)
  • Length: 822  
  • Mass: 91351
  • Tissue specificity: Widely expressed.
• Sequence:

  MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIA
  SQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSN
  SYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKN
  LIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIK
  SESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNG
  NNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVE
  MHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGY
  ALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQ
  TNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAP
  ASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVF
  QAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ

• Structural information:
  • Protein Domains: (702..81-)
    (/note="GAE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00093"-)
  • Interpro: IPR017107  IPR011989  IPR016024  IPR002553  IPR008152   IPR013041  IPR008153  
  • Prosite: PS50180
  • PDB: 1IU1
  • PDBsum: 1IU1
  • STRING: ENSP00000377148
• Other Databases: GeneCards:  AP1G1  Malacards:  AP1G1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0035646	endosome to melanosome transport	IMP	biological process
GO:0032438	melanosome organization	IC	biological process
GO:0035615	clathrin adaptor activity	IBA	molecular function
GO:0006896	Golgi to vacuole transport	IBA	biological process
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0030121	AP-1 adaptor complex	IBA	cellular component
GO:0140312	cargo adaptor activity	IBA	molecular function
GO:0055037	recycling endosome	IDA	cellular component
GO:0019894	kinesin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030121	AP-1 adaptor complex	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0030659	cytoplasmic vesicle membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030665	clathrin-coated vesicle membrane	ISS	cellular component
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity	IMP	biological process
GO:0043323	positive regulation of natural killer cell degranulation	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0090160	Golgi to lysosome transport	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa04142	Lysosome

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R