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Aliases for AP2M1 Gene

Aliases for AP2M1 Gene

  • Adaptor Related Protein Complex 2 Mu 1 Subunit 2 3
  • Clathrin Assembly Protein Complex 2 Mu Medium Chain 3 4
  • Clathrin Assembly Protein Complex 2 Medium Chain 2 3
  • Adaptor-Related Protein Complex 2, Mu 1 Subunit 2 3
  • Adaptor Related Protein Complex 2, Mu 1 Subunit 3 5
  • Adaptor-Related Protein Complex 2 Subunit Mu 3 4
  • Plasma Membrane Adaptor AP-2 50 KDa Protein 3 4
  • Plasma Membrane Adaptor AP-2 50kDA Protein 2 3
  • Adaptor Protein Complex AP-2 Subunit Mu 3 4
  • Clathrin Coat-Associated Protein AP50 3 4
  • Clathrin Coat Assembly Protein AP50 3 4
  • Clathrin Coat Adaptor Protein AP50 2 3
  • HA2 50 KDA Subunit 2 3
  • AP-2 Mu 2 Chain 2 3
  • Adaptin-Mu2 3 4
  • CLAPM1 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Medium 1 3
  • Clathrin-Associated/Assembly/Adaptor Protein 2
  • Clathrin Adaptor Complex AP2, Mu Subunit 3
  • Clathrin Adaptor Complex AP2 2
  • HA2 50 KDa Subunit 4
  • AP-2 Mu Chain 4
  • Mu Subunit 2
  • Medium 1 2
  • KIAA0109 4
  • AP50 3
  • Mu2 3

External Ids for AP2M1 Gene

Previous HGNC Symbols for AP2M1 Gene

  • CLAPM1

Previous GeneCards Identifiers for AP2M1 Gene

  • GC03M180722
  • GC03P184887
  • GC03P185294
  • GC03P185213
  • GC03P185375
  • GC03P183892
  • GC03P181299

Summaries for AP2M1 Gene

Entrez Gene Summary for AP2M1 Gene

  • 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]

GeneCards Summary for AP2M1 Gene

AP2M1 (Adaptor Related Protein Complex 2 Mu 1 Subunit) is a Protein Coding gene. Diseases associated with AP2M1 include pain agnosia and agnosia. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include transporter activity and low-density lipoprotein particle receptor binding. An important paralog of this gene is AP4M1.

UniProtKB/Swiss-Prot for AP2M1 Gene

  • Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at Tyr-156 in membrane-associated AP-2. The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity).

Gene Wiki entry for AP2M1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP2M1 Gene

Genomics for AP2M1 Gene

Regulatory Elements for AP2M1 Gene

Promoters for AP2M1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP2M1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP2M1 Gene

Chromosome:
3
Start:
184,174,689 bp from pter
End:
184,184,091 bp from pter
Size:
9,403 bases
Orientation:
Plus strand

Genomic View for AP2M1 Gene

Genes around AP2M1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2M1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP2M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2M1 Gene

Proteins for AP2M1 Gene

  • Protein details for AP2M1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CW1-AP2M1_HUMAN
    Recommended name:
    AP-2 complex subunit mu
    Protein Accession:
    Q96CW1
    Secondary Accessions:
    • A6NE12
    • D3DNT1
    • P20172
    • P53679

    Protein attributes for AP2M1 Gene

    Size:
    435 amino acids
    Molecular mass:
    49655 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with ATP6V1H and MEGF10. Interacts with EGFR. Interacts with F2R. Interacts with PIP5K1C; tyrosine phosphorylation of PIP5K1C weakens the interaction (By similarity). Interacts with KIAA0319; required for clathrin-mediated endocytosis of KIAA0319. Interacts with DVL2 (via DEP domain) (By similarity). Interacts with KCNQ1; mediates estrogen-induced internalization via clathrin-coated vesicles (PubMed:23529131).
    SequenceCaution:
    • Sequence=BAA09762.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AP2M1 Gene

    Alternative splice isoforms for AP2M1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2M1 Gene

Proteomics data for AP2M1 Gene at MOPED

Post-translational modifications for AP2M1 Gene

  • Ubiquitination at Lys 312, Lys 378, Lys 380, Lys 410, and Lys 420
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AP2M1 (AP2M1)

No data available for DME Specific Peptides for AP2M1 Gene

Domains & Families for AP2M1 Gene

Suggested Antigen Peptide Sequences for AP2M1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96CW1

UniProtKB/Swiss-Prot:

AP2M1_HUMAN :
  • Contains 1 MHD (mu homology) domain.
  • Belongs to the adaptor complexes medium subunit family.
Domain:
  • Contains 1 MHD (mu homology) domain.
Family:
  • Belongs to the adaptor complexes medium subunit family.
genes like me logo Genes that share domains with AP2M1: view

No data available for Gene Families for AP2M1 Gene

Function for AP2M1 Gene

Molecular function for AP2M1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at Tyr-156 in membrane-associated AP-2. The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (By similarity). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity).

Gene Ontology (GO) - Molecular Function for AP2M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050750 low-density lipoprotein particle receptor binding ISS --
genes like me logo Genes that share ontologies with AP2M1: view
genes like me logo Genes that share phenotypes with AP2M1: view

Animal Models for AP2M1 Gene

MGI Knock Outs for AP2M1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AP2M1 Gene

Localization for AP2M1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2M1 Gene

Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AP2M1 Gene COMPARTMENTS Subcellular localization image for AP2M1 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
mitochondrion 3
golgi apparatus 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AP2M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0030131 clathrin adaptor complex IEA --
GO:0030666 endocytic vesicle membrane TAS --
GO:0043195 terminal bouton IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with AP2M1: view

Pathways & Interactions for AP2M1 Gene

genes like me logo Genes that share pathways with AP2M1: view

SIGNOR curated interactions for AP2M1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for AP2M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0007268 synaptic transmission TAS --
GO:0007411 axon guidance TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0048013 ephrin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with AP2M1: view

Drugs & Compounds for AP2M1 Gene

(1) Drugs for AP2M1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with AP2M1: view

Transcripts for AP2M1 Gene

Unigene Clusters for AP2M1 Gene

Adaptor-related protein complex 2, mu 1 subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP2M1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8:
SP9: -
SP10: - -
SP11: - - -
SP12:
SP13:

ExUns: 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
SP1: - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13: -

Relevant External Links for AP2M1 Gene

GeneLoc Exon Structure for
AP2M1
ECgene alternative splicing isoforms for
AP2M1

Expression for AP2M1 Gene

mRNA expression in normal human tissues for AP2M1 Gene

Protein differential expression in normal tissues from HIPED for AP2M1 Gene

This gene is overexpressed in Frontal cortex (8.3) and Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP2M1 Gene



SOURCE GeneReport for Unigene cluster for AP2M1 Gene Hs.518460

genes like me logo Genes that share expression patterns with AP2M1: view

Protein tissue co-expression partners for AP2M1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AP2M1 Gene

Orthologs for AP2M1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AP2M1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP2M1 36
  • 100 (a)
OneToOne
AP2M1 35
  • 99.77 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia AP2M1 35
  • 93.56 (n)
  • 100 (a)
AP2M1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP2M1 35
  • 94.56 (n)
  • 100 (a)
AP2M1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2m1 36
  • 100 (a)
OneToOne
Ap2m1 16
Ap2m1 35
  • 92.64 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia AP2M1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2m1 35
  • 92.41 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves AP2M1 35
  • 84.6 (n)
  • 99.54 (a)
AP2M1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP2M1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2m1 35
  • 83.83 (n)
  • 99.31 (a)
zebrafish
(Danio rerio)
Actinopterygii ap2m1b 35
  • 84.37 (n)
  • 98.16 (a)
zgc56643 35
ap2m1a 36
  • 98 (a)
OneToMany
ap2m1b 36
  • 98 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007131 35
  • 75.67 (n)
  • 88.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta AP-50 37
  • 86 (a)
AP-50 35
  • 76.37 (n)
  • 87.99 (a)
AP-50 36
  • 87 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dpy-23 37
  • 80 (a)
dpy-23 35
  • 71.11 (n)
  • 82.07 (a)
dpy-23 36
  • 81 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APM1 36
  • 34 (a)
OneToMany
APM4 38
soybean
(Glycine max)
eudicotyledons Gma.8717 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G46630 35
  • 54.85 (n)
  • 50 (a)
corn
(Zea mays)
Liliopsida Zm.17830 35
rice
(Oryza sativa)
Liliopsida Os.8929 35
Os02g0690700 35
  • 53.44 (n)
  • 49.53 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09673 35
  • 59.42 (n)
  • 54.44 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apm4 35
  • 49.46 (n)
  • 40.93 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10579 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.947 36
  • 86 (a)
OneToOne
Species with no ortholog for AP2M1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP2M1 Gene

ENSEMBL:
Gene Tree for AP2M1 (if available)
TreeFam:
Gene Tree for AP2M1 (if available)

Paralogs for AP2M1 Gene

Paralogs for AP2M1 Gene

(5) SIMAP similar genes for AP2M1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with AP2M1: view

Variants for AP2M1 Gene

Sequence variations from dbSNP and Humsavar for AP2M1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs15954 -- 184,183,746(-) CCTAG(A/G)CTCGG utr-variant-3-prime
rs865227 -- 184,174,681(-) GTAGG(C/G)GTGGC upstream-variant-2KB
rs865807 -- 184,174,629(+) GCGGG(G/T)GGAGC upstream-variant-2KB
rs866855 -- 184,174,714(+) TTCTC(A/G)AAGGC upstream-variant-2KB
rs1134758 -- 184,179,098(+) ATTTT(G/T)TGCTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AP2M1 Gene

Variant ID Type Subtype PubMed ID
nsv829812 CNV Loss 17160897
nsv878056 CNV Loss 21882294
nsv878057 CNV Loss 21882294
nsv878058 CNV Gain 21882294

Variation tolerance for AP2M1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AP2M1 Gene

HapMap Linkage Disequilibrium report
AP2M1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP2M1 Gene

Disorders for AP2M1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AP2M1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pain agnosia
  • analgesia
agnosia
  • alexia
- elite association - COSMIC cancer census association via MalaCards
Search AP2M1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP2M1

Genetic Association Database (GAD)
AP2M1
Human Genome Epidemiology (HuGE) Navigator
AP2M1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP2M1
genes like me logo Genes that share disorders with AP2M1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AP2M1 Gene

Publications for AP2M1 Gene

  1. Chromosome localization of human genes for clathrin adaptor polypeptides AP2 beta and AP50 and the clathrin-binding protein, VCP. (PMID: 8595912) Druck T. … Keen J.H. (Genomics 1995) 2 3 23 67
  2. Identification of two new mu-adaptin-related proteins, mu-ARP1 and mu-ARP2. (PMID: 9013859) Wang X. … Kilimann M.W. (FEBS Lett. 1997) 3 23
  3. Interaction of CTLA-4 with AP50, a clathrin-coated pit adaptor protein. (PMID: 9256472) Zhang Y. … Allison J.P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 23
  4. Activity and in vitro reassembly of the coated vesicle (H+)-ATPase requires the 50-kDa subunit of the clathrin assembly complex AP-2. (PMID: 7989329) Liu Q. … Forgac M. (J. Biol. Chem. 1994) 3 23
  5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3

Products for AP2M1 Gene

Sources for AP2M1 Gene

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