AP1S2 adaptor related protein complex 1 subunit sigma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP1S2provided by HGNC
Official Full Name: adaptor related protein complex 1 subunit sigma 2provided by HGNC
Primary source: HGNC:HGNC:560
See related: Ensembl:ENSG00000182287 MIM:300629; AllianceGenome:HGNC:560
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: PGS; DC22; MRX59; MRXS5; MRXSF; MRXS21; SIGMA1B
Summary: Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression: Ubiquitous expression in heart (RPKM 13.6), endometrium (RPKM 13.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15825806..15854813, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (15408728..15437727, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15843929..15872936, complement)

Chromosome X - NC_000023.11 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?

MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma.
Title: MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma.
Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis.
Title: Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis.
Four generations in Chinese pedigree with Pettigrew syndrome resulting from a novel splice site mutation in AP1S2. AP1S2 mutations appear to be an important cause of Mental retardation,delayed in walking, abnormal speech, hypotonia, dysmorphic features, abnormal behavior and brain.
Title: A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
sigma1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue.
Title: σ1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue.
The AP1S2 c.426+1 G>T mutation segregates with the disease in the Pettigrew syndrome family.
Title: AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
absence of an AP-1 defect in peripheral tissues is due to functional redundancy among AP-1 subunits
Title: Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
A mutation in the 3d intron causes skipping of exon 3 yielding a protein with 3 new AAs terminating at codon 64. A new nonsense mutation p.Gln66X was found in exon 3. Without AP1S2, defective membrane protein trafficking alters brain neural cell fate.
Title: Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.

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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
Pettigrew syndrome MedGen: C0796254 OMIM: 304340 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-28) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-04-28) ClinGen Genome Curation Page

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 cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes	PubMed
	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
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	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	HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment	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 Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G43551 (e-PCR)
- UniSTS:95005

RH47344 (e-PCR)
- UniSTS:62495

RH26746 (e-PCR)
- UniSTS:88640

RH66697 (e-PCR)
- UniSTS:49013

RH104372 (e-PCR)
- UniSTS:98697

AP1S2__4320 (e-PCR)
- UniSTS:462733

RH47350 (e-PCR)
- UniSTS:65940

RH91863 (e-PCR)
- UniSTS:89496

RH17799 (e-PCR)
- UniSTS:35232

RH16361 (e-PCR)
- UniSTS:40126

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 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 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-type membrane coat 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 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-2

Names: adapter-related protein complex 1 sigma-1B subunit; adaptor protein complex AP-1 sigma-1B subunit; adaptor related protein complex 1 sigma 2 subunit; adaptor-related protein complex 1 subunit sigma-1B; clathrin adaptor complex AP1 sigma 1B subunit; clathrin assembly protein complex 1 sigma-1B small chain; golgi adaptor HA1/AP1 adaptin sigma-1B subunit; sigma1B-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_009274.2 RefSeqGene

Range

5165..34172

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272071.2 → NP_001259000.1 AP-1 complex subunit sigma-2 isoform 1

See identical proteins and their annotated locations for NP_001259000.1

Status: REVIEWED

Description

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

Source sequence(s)

AC004106, AK312594

Consensus CDS

CCDS75958.1

UniProtKB/TrEMBL

A0A5F9ZHW1, B7Z853

Related

ENSP00000500695.1, ENST00000672987.1

Conserved Domains (1) summary

cd14831
Location:2 → 144

AP1_sigma; AP-1 complex subunit sigma
NM_001368994.1 → NP_001355923.1 AP-1 complex subunit sigma-2 isoform 3

Status: REVIEWED

Source sequence(s)

AC004106, AK296135

Consensus CDS

CCDS94559.1

UniProtKB/TrEMBL

B7Z853, H7BZG6

Related

ENSP00000389474.2, ENST00000450644.2

Conserved Domains (1) summary

cd14831
Location:2 → 142

AP1_sigma; AP-1 complex subunit sigma
NM_001369007.1 → NP_001355936.1 AP-1 complex subunit sigma-2 isoform 4

Status: REVIEWED

Source sequence(s)

AC004106, AF251295, AK299921

Consensus CDS

CCDS94560.1

UniProtKB/TrEMBL

A6NH01, B7Z853

Related

ENSP00000369645.1, ENST00000380291.5

Conserved Domains (1) summary

cd14831
Location:2 → 144

AP1_sigma; AP-1 complex subunit sigma
NM_001369008.1 → NP_001355937.1 AP-1 complex subunit sigma-2 isoform 5

Status: REVIEWED

Source sequence(s)

AC004106, AK130075, AK302908, AK312594

Consensus CDS

CCDS94561.1

UniProtKB/TrEMBL

A0A5F9ZI43, B7Z853

Related

ENSP00000500066.1, ENST00000673591.1

Conserved Domains (1) summary

cd14831
Location:2 → 143

AP1_sigma; AP-1 complex subunit sigma
NM_003916.5 → NP_003907.3 AP-1 complex subunit sigma-2 isoform 2

See identical proteins and their annotated locations for NP_003907.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame 3' exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC004106, BC001117, DC401898

Consensus CDS

CCDS14173.1

UniProtKB/Swiss-Prot

B4DSU4, O95326, P56377, Q9H2N6

UniProtKB/TrEMBL

B7Z853, Q549M9

Related

ENSP00000328789.2, ENST00000329235.6

Conserved Domains (1) summary

cd14831
Location:2 → 144

AP1_sigma; AP-1 complex subunit sigma

RNA

NR_160932.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004106, AK296135, DC391819
NR_160933.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC004106