AP1S1 adaptor related protein complex 1 subunit sigma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP1S1provided by HGNC
Official Full Name: adaptor related protein complex 1 subunit sigma 1provided by HGNC
Primary source: HGNC:HGNC:559
See related: Ensembl:ENSG00000106367 MIM:603531; AllianceGenome:HGNC:559
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; EKV3; CLAPS1; MEDNIK; SIGMA1A
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]
Expression: Ubiquitous expression in brain (RPKM 52.8), colon (RPKM 23.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (101154476..101161276)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (102477198..102484025)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100797757..100804557)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Title: AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins
Title: MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
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.

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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
MEDNIK syndrome MedGen: C1836330 OMIM: 609313 GeneReviews: IDEDNIK Syndrome	Compare labs

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	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	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
Vpu	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
	vpu	Fusion of the Vpu cytoplasmic domain (residues 28-80) to the BST2 cytoplasmic domain (residues 1-21) enhances binding to the beta, mu, and sigma subunits of adaptor-related protein complex 1 (AP1) in cells	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in basolateral protein secretion	NAS Non-traceable Author Statement 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 platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in response to virus	IEP Inferred from Expression Pattern more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor 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	NAS Non-traceable Author Statement more info	PubMed
part_of AP-1 adaptor complex	TAS Traceable Author Statement more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
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 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 sigma-1A

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

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.

Genomic

NG_033082.2 RefSeqGene

Range

5079..11879

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1363

mRNA and Protein(s)

NM_001283.5 → NP_001274.1 AP-1 complex subunit sigma-1A

See identical proteins and their annotated locations for NP_001274.1

Status: REVIEWED

Source sequence(s)

AC004876, AK312151, AL578356, CA426442

Consensus CDS

CCDS47669.1

UniProtKB/Swiss-Prot

B2R5D8, P61966, P82267, Q00382, Q53YA7, Q9BTN4, Q9UDW9

Related

ENSP00000336666.5, ENST00000337619.11

Conserved Domains (1) summary

cd14831
Location:3 → 145

AP1_sigma; AP-1 complex subunit sigma

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

101154476..101161276

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

102477198..102484025

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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.