AP2M1 - adaptor related protein complex 2 subunit mu 1 Gene

Also Known as mu2; AP50; MRD60; CLAPM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1173

About AP2M1

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,174,855-184,184,091 (from NCBI)

This gene has 34 transcripts (splice variants), 241 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 196.0), adrenal (RPKM 156.4) and 25 other tissues.

Summary

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

AP2M1 Products (3)

mRNA	Protein	Name
NM_001025205.2	NP_001020376.1	AP-2 complex subunit mu isoform b
NM_001311198.2	NP_001298127.1	AP-2 complex subunit mu isoform c
NM_004068.4	NP_004059.2	AP-2 complex subunit mu isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12032142	GOA
enables signal sequence binding	IDA IDA: Inferred from direct assay	8918456	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	23529131	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in clathrin-dependent endocytosis	IDA IDA: Inferred from direct assay	23676497	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	25898166	GOA
involved in regulation of vesicle size	IMP IMP: Inferred from mutant phenotype	25898166	GOA
involved in synaptic vesicle endocytosis	IDA IDA: Inferred from direct assay	11102472	GOA
involved in synaptic vesicle endocytosis	IMP IMP: Inferred from mutant phenotype	11102472	GOA
involved in vesicle budding from membrane	IMP IMP: Inferred from mutant phenotype	25898166	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of AP-2 adaptor complex	IDA IDA: Inferred from direct assay	23676497	GOA
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	31104773	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP2M1 Protein Structure

Clat_adaptor_s

Adap_comp_sub

0
100
200
300
400
435 a.a.

Protein Preferred Names	Protein Names
AP-2 complex subunit mu	AP-2 mu 2 chain

AP2M1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AP2M1	Q96CW1	TMA16	Homo sapiens	Q96EY4	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	H2BC13	Homo sapiens	Q99880	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	NAA11	Homo sapiens	Q9BSU3	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	PRPF18	Homo sapiens	Q99633	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	Ub Reconstruction	20029029
Intra	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	TAP	24189400
Intra	AP2M1	Q96CW1	EGFR	Homo sapiens	P00533	FPS	37100772
Intra	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	Anti Tag CoIP	33961781
Intra	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	Crosslink	30021884
Intra	AP2M1	Q96CW1	AP2B1	Homo sapiens	P63010	TAP	24189400
Intra	AP2M1	Q96CW1	HEXIM2	Homo sapiens	Q96MH2	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829
Intra	AP2M1	Q96CW1	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
Intra	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	Phage Display	37219487
Intra	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	37100772
Intra	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	34799561
Intra	AP2M1	Q96CW1	ATG9A	Homo sapiens	Q7Z3C6	FPS	37219487
Intra	AP2M1	Q96CW1	PRR13	Homo sapiens	Q9NZ81	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Pull Down	24603492
Intra	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Y2H Array	31515488
Intra	AP2M1	Q96CW1	TBC1D5	Homo sapiens	Q92609	Y2H Pooling	16189514
Intra	AP2M1	Q96CW1	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	ZNF581	Homo sapiens	Q9P0T4	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	RUNDC3A	Homo sapiens	Q59EK9	Y2H Pooling	16189514
Intra	AP2M1	Q96CW1	UTP25	Homo sapiens	Q68CQ4	Anti Tag CoIP	33961781
Intra	AP2M1	Q96CW1	RSPH14	Homo sapiens	Q9UHP6	Y2H Pooling	16189514
Intra	AP2M1	Q96CW1	RSPH14	Homo sapiens	Q9UHP6	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	CLDN2	Homo sapiens	P57739	Anti Bait CoIP	34964704
Intra	AP2M1	Q96CW1	EAF1	Homo sapiens	Q96JC9	Validated Y2H	32296183
Intra	AP2M1	Q96CW1	ACE2	Homo sapiens	Q9BYF1	FPS	33436498
Cross	AP2M1	Q96CW1	N	Mumps virus	Q77IS8	Phage Display	37100772
Cross	AP2M1	Q96CW1	N	Mumps virus	Q77IS8	FPS	37100772
Cross	AP2M1	Q96CW1	P27958-PRO_0000037566	Hepatitis C virus	P27958-PRO_0000037566	Anti Bait CoIP	22916011
Cross	AP2M1	Q96CW1	P27958-PRO_0000037566	Hepatitis C virus	P27958-PRO_0000037566	SLC	22916011
Cross	AP2M1	Q96CW1	NP	Zaire ebolavirus	P18272	FPS	37100772

Cross: Cross-species interaction Intra: Intraspecies interaction

AP2M1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82368	Phospho-AP2M1 (Thr156) Antibody (YA2113)	WB	Human, Mouse, Rat
HY-P82368A	Phospho-AP2M1 (Thr156) Antibody (YA2113)(PBS only)	WB	Human
HY-P83361	AP2M1 Antibody (YA3106)	WB	Human, Mouse, Rat
HY-P84721	AP2M1 Antibody (YA4418)	WB, ELISA	Human, Monkey
HY-P84721A	AP2M1 Antibody (YA4418)(PBS only)	WB, ELISA	Human, Monkey

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Intellectual Developmental Disorder 60 With Seizures MRD60 Mental Retardation, Autosomal Dominant 60, With Seizures
Epilepsy With Myoclonic-Atonic Seizures	Myoclonic Astatic Epilepsy Doose Syndrome Epilepsy With Myoclonic-Astatic Seizures Epilepsy With Myoclono-Astatic Crisis Myoclonic-Astatic Epilepsy Emas Mae Myoclonic Atonic Epilepsy Myoclonic-Astatic Epilepsy In Early Childhood
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Hypocalciuric Hypercalcemia, Familial, Type Iii	HHC3 Familial Hypocalciuric Hypercalcemia 3 Fbh3 Familial Hypocalciuric Hypercalcemia Type 3 Hypercalcemia, Familial Benign, Oklahoma Type Hypocalciuric Hypercalcemia, Type Iii Fhh Type 3 Hypocalciuric Hypercalcemia Type Iii Familial Benign Hypercalcemia, Type Iii Hypercalcemia, Familial Benign, Type Iii Fbhok Familial Benign Hypercalcemia, Oklahoma Variant Familial Benign Hypercalcemia, Type 3 Hypercalcemia, Familial Benign, Type 3 Hypocalciuric Hypercalcemia, Familial, Type 3 Hypocalciuric Hypercalcemia, Familial 3 Familial Benign Hypercalcemia 3 Familial Benign Hypercalcemia Oklahoma Type Familial Benign Hypocalciuric Hypercalcemia 3 Fbhh3 Fhh3
Brachydactyly, Type D	Brachydactyly Type D BDD Stub Thumb Brachydactyly D
Dyslexia
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161261	SARS-CoV-2-IN-81	Inhibitor	/	Unkown
HY-169405	AAK1/HDACs-IN-1	Inhibitor	/	Unkown
HY-RS00787	AP2M1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22390	Ap2m1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AP2M1	MGD	MGI:1298405
Felis catus	AP2M1	VGNC	VGNC:67726
Canis familiaris	AP2M1	VGNC	VGNC:37961
Rattus norvegicus	AP2M1	RGD	RGD:620135
Macaca mulatta	AP2M1	VGNC	VGNC:69965
Bos taurus	AP2M1	VGNC	VGNC:25985
Others	AP2M1	NCBI