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AP1S1 (adaptor related protein complex 1 subunit sigma 1)

Gene

1174

Adaptor related protein complex 1 subunit sigma 1

AP1S1

AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A

7q22.1

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs751430853	A>G	Pathogenic	Splice acceptor variant
rs981747624	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1584203922	C>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005815	hsa-miR-204-5p	Microarray	21282569
MIRT023801	hsa-miR-1-3p	Microarray	18668037
MIRT361507	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT361507	hsa-miR-4796-3p	PAR-CLIP	26701625
MIRT481833	hsa-miR-4276	PAR-CLIP	23592263
MIRT481833	hsa-miR-4276	PAR-CLIP	26701625
MIRT481834	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT481834	hsa-miR-7847-3p	PAR-CLIP	26701625
MIRT481835	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT481835	hsa-miR-6739-5p	PAR-CLIP	26701625
MIRT481836	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT481836	hsa-miR-6733-5p	PAR-CLIP	26701625
MIRT481837	hsa-miR-3153	PAR-CLIP	23592263
MIRT481837	hsa-miR-3153	PAR-CLIP	26701625
MIRT481838	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT481838	hsa-miR-4668-5p	PAR-CLIP	26701625
MIRT481839	hsa-miR-6124	PAR-CLIP	23592263
MIRT481839	hsa-miR-6124	PAR-CLIP	26701625
MIRT481840	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT481840	hsa-miR-194-3p	PAR-CLIP	26701625
MIRT481841	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT481841	hsa-miR-6783-5p	PAR-CLIP	26701625
MIRT481842	hsa-miR-5693	PAR-CLIP	23592263
MIRT481842	hsa-miR-5693	PAR-CLIP	26701625
MIRT481843	hsa-miR-4500	PAR-CLIP	23592263
MIRT481843	hsa-miR-4500	PAR-CLIP	26701625
MIRT481844	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT481844	hsa-let-7a-5p	PAR-CLIP	26701625
MIRT481845	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT481845	hsa-let-7f-5p	PAR-CLIP	26701625
MIRT481846	hsa-miR-4458	PAR-CLIP	23592263
MIRT481846	hsa-miR-4458	PAR-CLIP	26701625
MIRT481847	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT481847	hsa-let-7i-5p	PAR-CLIP	26701625
MIRT481848	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT481848	hsa-miR-98-5p	PAR-CLIP	26701625
MIRT481849	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT481849	hsa-let-7b-5p	PAR-CLIP	26701625
MIRT481850	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT481850	hsa-let-7g-5p	PAR-CLIP	26701625
MIRT481851	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT481851	hsa-let-7e-5p	PAR-CLIP	26701625
MIRT481852	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT481852	hsa-let-7c-5p	PAR-CLIP	26701625
MIRT481853	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT481853	hsa-let-7d-5p	PAR-CLIP	26701625
MIRT544667	hsa-miR-5698	PAR-CLIP	21572407
MIRT544668	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT544669	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT544670	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT544671	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544672	hsa-miR-3652	PAR-CLIP	21572407
MIRT544673	hsa-miR-4430	PAR-CLIP	21572407
MIRT544674	hsa-miR-122-5p	PAR-CLIP	21572407
MIRT544675	hsa-miR-504-3p	PAR-CLIP	21572407
MIRT544676	hsa-miR-3135b	PAR-CLIP	21572407
MIRT544677	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT544678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT544678	hsa-miR-4524a-3p	HITS-CLIP	27418678
MIRT544679	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT544680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT544681	hsa-miR-1182	PAR-CLIP	21572407
MIRT544682	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT742452	hsa-miR-3689d	PAR-CLIP	26701625
MIRT743681	hsa-miR-4278	PAR-CLIP	26701625
MIRT747474	hsa-miR-4716-3p	PAR-CLIP	26701625
MIRT754057	hsa-miR-6732-5p	PAR-CLIP	26701625
MIRT754614	hsa-miR-6752-5p	PAR-CLIP	26701625
MIRT756074	hsa-miR-6794-5p	PAR-CLIP	26701625
MIRT756466	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT757348	hsa-miR-6842-5p	PAR-CLIP	26701625
MIRT757575	hsa-miR-6851-5p	PAR-CLIP	26701625
MIRT758974	hsa-miR-7110-5p	PAR-CLIP	26701625
MIRT783445	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT785111	hsa-miR-3672	HITS-CLIP	27418678
MIRT789116	hsa-miR-6864-3p	HITS-CLIP	27418678
MIRT789650	hsa-miR-8055	HITS-CLIP	27418678

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006898	Process	Receptor-mediated endocytosis	TAS	9733768
GO:0009615	Process	Response to virus	IEP	16548883
GO:0016020	Component	Membrane	HDA	19946888
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030121	Component	AP-1 adaptor complex	TAS	9733768
GO:0030659	Component	Cytoplasmic vesicle membrane	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0050690	Process	Regulation of defense response to virus by virus	TAS

MIM	HGNC	e!Ensembl
603531	559	ENSG00000106367

Protein

UniProt ID

P61966

Protein name

AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adaptin sigma-1A subunit) (HA1 19 kDa subunit) (Sigma 1a subunit of AP-1 clathrin) (Sigma-adaptin 1A) (Sigma1A-adaptin)

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 recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

PDB

4P6Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 142	Clathrin adaptor complex small chain	Domain

Sequence

MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYK
RYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMG
GDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA

Sequence length

158

Interactions

View interactions

	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

Show/Hide all(12)

Disease name	Disease term	References

	Cholestasis

	Cirrhosis

	Global developmental delay

	ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	23423674, 24754424, 19057675

	Hyperkeratosis

	Ichthyoses

	Intrahepatic Cholestasis	23423674

	Lipoidosis	17175557

	Fibrosis, Liver

	MEDNIK syndrome

	Intellectual Disability

	Peripheral Nervous System Diseases

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