AP1M2 adaptor related protein complex 1 subunit mu 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP1M2provided by HGNC
Official Full Name: adaptor related protein complex 1 subunit mu 2provided by HGNC
Primary source: HGNC:HGNC:558
See related: Ensembl:ENSG00000129354 MIM:607309; AllianceGenome:HGNC:558
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: mu2; MU1B; MU-1B; HSMU1B; AP1-mu2
Summary: This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression: Broad expression in thyroid (RPKM 36.9), duodenum (RPKM 29.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10572671..10587312, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10699125..10713780, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10683347..10697988, complement)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
Title: The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
Variants in AP1M2 gene is associated with thrombosis.
Title: Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
The mechanism of iron absorption from mineralized Soybean ferritin using Caco-2 cells via a mu2-dependent endocytosis mechanism is reported.
Title: Caco-2 intestinal epithelial cells absorb soybean ferritin by mu2 (AP2)-dependent endocytosis.
The AP1M2 gene was shown to effectively separate these two tumor(chromophobe renal cell carcinoma (RCC) and benign oncocytoma) groups by quantitative reverse transcription-PCR using fresh tissue samples, with similar trends seen on formalin-fixed tissues.
Title: Gene expression profiling separates chromophobe renal cell carcinoma from oncocytoma and identifies vesicular transport and cell junction proteins as differentially expressed genes.
Results suggest that mu1B interacts with different classes of basolateral targeting signals in distinct ways.
Title: Differential recognition of tyrosine-based basolateral signals by AP-1B subunit mu1B in polarized epithelial cells.
PIPKIgamma also interacts with the mu subunits of clathrin adaptor protein (AP) complexes
Title: Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin.

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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

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	A Tyr-based motif YXXO (residues 712-715) in the cytoplasmic domain of HIV-1 gp41 interacts with the micro1 and micro2 subunits of AP 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

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

RH103265 (e-PCR)
- UniSTS:97597

STS-R00451 (e-PCR)
- UniSTS:6007

D18S389 (e-PCR)
- UniSTS:67312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor 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 protein targeting	TAS Traceable Author Statement more info	PubMed
involved_in vesicle targeting	TAS 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
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
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 mu-2

Names: AP-mu chain family member mu1B; HA1 47 kDa subunit 2; adaptor protein complex AP-1 mu-2 subunit; adaptor related protein complex 1 mu 2 subunit; clathrin assembly protein complex 1 mu-2 medium chain 2; clathrin coat assembly protein AP47 2; clathrin coat associated protein AP47 2; clathrin-associated adaptor medium chain mu2; golgi adaptor AP-1 47 kDa protein; golgi adaptor HA1/AP1 adaptin mu-2 subunit; mu-adaptin 2; mu1B-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.

mRNA and Protein(s)

NM_001300887.2 → NP_001287816.1 AP-1 complex subunit mu-2 isoform 1

See identical proteins and their annotated locations for NP_001287816.1

Status: REVIEWED

Description

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

Source sequence(s)

AK222946, AW370781, BC003387, BC005021

Consensus CDS

CCDS77234.1

UniProtKB/TrEMBL

Q53GI5

Related

ENSP00000465685.1, ENST00000590923.5

Conserved Domains (2) summary

cl02092
Location:5 → 137

Clat_adaptor_s; Clathrin adaptor complex small chain

cl10970
Location:154 → 423

AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)
NM_005498.5 → NP_005489.2 AP-1 complex subunit mu-2 isoform 2

See identical proteins and their annotated locations for NP_005489.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AF020797, BC005021, BE044092

Consensus CDS

CCDS45964.1

UniProtKB/Swiss-Prot

B2RDV5, Q9BSI8, Q9Y6Q5

UniProtKB/TrEMBL

Q53GI5

Related

ENSP00000250244.5, ENST00000250244.11

Conserved Domains (2) summary

cl02092
Location:5 → 137

Clat_adaptor_s; Clathrin adaptor complex small chain

cl10970
Location:154 → 421

AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)