AP1S1 adaptor-related protein complex 1, sigma 1 subunit [Homo sapiens] - Gene

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Summary

Official Symbol: AP1S1provided by HGNC
Official Full Name: adaptor-related protein complex 1, sigma 1 subunitprovided by HGNC
Primary source: HGNC:559
See related: Ensembl:ENSG00000106367; HPRD:04635; MIM:603531; Vega:OTTHUMG00000157103
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: AP19; CLAPS1; SIGMA1A; FLJ92436; WUGSC:H_DJ0747G18.2
Summary: 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]

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Genomic context

Location :: 7q22.1

Sequence :: Chromosome: 7; NC_000007.13 (100797686..100804557)

See AP1S1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A splice mutation in AP1S1 was found in four families with a neurocutaneous syndrome.
Title: Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
Isolation and description of the rat and mouse genes.
Title: AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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	HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment	PubMed
	nef	The dileucine motif (residues 164-165) in HIV-1 Nef is required for binding to AP-1 complexes and stabilizing their association with membranes	PubMed
	nef	A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001274.1	NP_001119.2	AP1G1	BIND	PubMed	The gamma-1 and sigma-1A subunits of the AP-1 complex interact. This interaction was modeled on a demonstrated interaction between mouse gamma-1 and human sigma-1A.
P61966	O43747	AP1G1	HPRD	PubMed
P61966	O75843	AP1G2	HPRD	PubMed
P61966	Q9Y6Q5	AP1M2	HPRD	PubMed
P61966	P61966	AP1S1	HPRD	PubMed
P61966	O94973	AP2A2	HPRD	PubMed
BioGRID:107588	BioGRID:106673	AP1G1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107588	BioGRID:114420	AP1G2	BioGRID	PubMed	Two-hybrid
BioGRID:107588	BioGRID:125026	ARMC6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107588	BioGRID:120408	EBLN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107588	BioGRID:116096	RAB10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107588	BioGRID:118968	SEC61A1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107588	BioGRID:112454	SLC16A1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107588	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular membrane organization	TAS Traceable Author Statement more info
intracellular protein transport	IEA Inferred from Electronic Annotation more info
post-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info
receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed
regulation of defense response to virus by virus	TAS Traceable Author Statement more info
response to virus	IEP Inferred from Expression Pattern more info	PubMed
viral reproduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
AP-1 adaptor complex	TAS Traceable Author Statement more info	PubMed
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi membrane	TAS Traceable Author Statement more info
clathrin coat of trans-Golgi network vesicle	NAS Non-traceable Author Statement more info
coated pit	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
cytosol	TAS Traceable Author Statement more info
lysosomal membrane	TAS Traceable Author Statement more info
membrane	IEA Inferred from Electronic Annotation more info
membrane coat	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: AP-1 complex subunit sigma-1A

Names: AP-1 complex subunit sigma-1A; sigma1A-adaptin; sigma-adaptin 1A; HA1 19 kDa subunit; sigma 1a subunit of AP-1 clathrin; clathrin coat assembly protein AP19; adaptor protein complex AP-1 sigma-1A subunit; golgi adaptor HA1/AP1 adaptin sigma-1A subunit; sigma1A subunit of AP-1 clathrin adaptor complex; adapter-related protein complex 1 sigma-1A subunit; clathrin assembly protein complex 1 sigma-1A small chain; clathrin-associated/assembly/adaptor protein, small 1 (19kD)

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NCBI Reference Sequences (RefSeq)

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_001283.3 → NP_001274.1 AP-1 complex subunit sigma-1A

Status: REVIEWED

Source sequence(s)

AB015319, AC004876, BI598615

Consensus CDS

CCDS47669.1

UniProtKB/Swiss-Prot

P61966

Related

ENSP00000336666, OTTHUMP00000211467, ENST00000337619, OTTHUMT00000347439

Conserved Domains (1) summary

cl02092
Location:1 – 142
Blast Score: 556

Clat_adaptor_s; Clathrin adaptor complex small chain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

100797686..100804557

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

95390854..95397722

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

100156073..100162944

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_057089.2: Suppressed sequence

Description

NM_057089.2: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC004876.2	AAD45829.1
genomic	CH471197.1	EAW50198.1
		EAW50199.1
		EAW50200.1
mRNA	AB015319.1	BAA33391.1
mRNA	AK312151.1	BAG35085.1
mRNA	BC003561.1	AAH03561.1
mRNA	BI597121.1	None
mRNA	BI598615.1	None
mRNA	BI857465.1	None
mRNA	BT006779.1	AAP35425.1