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Aliases for AP2M1 Gene

Aliases for AP2M1 Gene

  • Adaptor-Related Protein Complex 2, Mu 1 Subunit 2 3
  • CLAPM1 3 4 6
  • Clathrin Assembly Protein Complex 2 Mu Medium Chain 3 4
  • Clathrin Assembly Protein Complex 2 Medium Chain 2 3
  • 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
  • AP-2 Mu Chain 3 4
  • Adaptin-Mu2 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Medium 1 3
  • Clathrin-Associated/Assembly/Adaptor Protein 2
  • Adapter-Related Protein Complex 2 Mu Subunit 3
  • Adapter-Related Protein Complex 2 Subunit Mu 3
  • Clathrin Adaptor Complex AP2, Mu Subunit 3
  • Clathrin Adaptor Complex AP2 2
  • AP-2 Complex Subunit Mu 3
  • HA2 50 KDa Subunit 4
  • Mu Subunit 2
  • Medium 1 2
  • KIAA0109 4
  • AP50 3
  • Mu2 3

External Ids for AP2M1 Gene

Previous Symbols for AP2M1 Gene

  • CLAPM1

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for AP2M1 Gene

AP2M1 (Adaptor-Related Protein Complex 2, Mu 1 Subunit) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include transporter activity and lipid binding. An important paralog of this gene is AP1M2.

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

Genomic Location for AP2M1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP2M1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2M1 Gene

Regulatory Elements 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).
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys238, Lys312, Lys378, Lys380, Lys410, and Lys420

No data available for DME Specific Peptides for AP2M1 Gene

Domains for AP2M1 Gene

Suggested Antigen Peptide Sequences for AP2M1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96CW1

UniProtKB/Swiss-Prot:

AP2M1_HUMAN
Domain:
  • Contains 1 MHD (mu homology) domain.:
    • Q96CW1
Family:
  • Belongs to the adaptor complexes medium subunit family.:
    • Q96CW1
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:0005048 signal sequence binding IDA 8918456
GO:0005215 transporter activity TAS 7989329
GO:0005515 protein binding IPI 12032142
GO:0008289 lipid binding IEA --
GO:0035615 contributes_to clathrin adaptor activity TAS 12121421
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
cytosol 4
lysosome 4
vacuole 4
mitochondrion 2
nucleus 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for AP2M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 coated pit --
genes like me logo Genes that share ontologies with AP2M1: view

Pathways for AP2M1 Gene

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

Gene Ontology (GO) - Biological Process for AP2M1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006886 intracellular protein transport IEA --
GO:0006897 endocytosis --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with AP2M1: view

Compounds for AP2M1 Gene

(1) Novoseek inferred chemical compound relationships for AP2M1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 26.7 2
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with AP2M1: view

No data available for 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 35
  • 99.77 (n)
  • 100 (a)
AP2M1 36
  • 100 (a)
OneToOne
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 35
  • 92.64 (n)
  • 100 (a)
Ap2m1 16
Ap2m1 36
  • 100 (a)
OneToOne
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 ap2m1a 36
  • 98 (a)
OneToMany
ap2m1b 35
  • 84.37 (n)
  • 98.16 (a)
ap2m1b 36
  • 98 (a)
OneToMany
zgc56643 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007131 35
  • 75.67 (n)
  • 88.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta AP-50 35
  • 76.37 (n)
  • 87.99 (a)
AP-50 36
  • 87 (a)
OneToOne
AP-50 37
  • 86 (a)
worm
(Caenorhabditis elegans)
Secernentea dpy-23 35
  • 71.11 (n)
  • 82.07 (a)
dpy-23 36
  • 81 (a)
OneToOne
dpy-23 37
  • 80 (a)
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

Selected 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 MAF
rs8478 -- 184,182,044(+) AAGAT(C/T)GAGGT reference, synonymous-codon
rs13262 -- 184,183,601(+) ATTTA(C/T)GAAAC synonymous-codon, reference
rs15231 -- 184,183,998(+) CCGGC(C/T)TCAGT utr-variant-3-prime
rs15954 -- 184,183,746(-) CCTAG(A/G)CTCGG utr-variant-3-prime
rs843346 -- 184,175,731(-) GGGGG(A/G)CCTTG intron-variant

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

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

(1) University of Copenhagen DISEASES for AP2M1 Gene

Relevant External Links for AP2M1

Genetic Association Database (GAD)
AP2M1
Human Genome Epidemiology (HuGE) Navigator
AP2M1
genes like me logo Genes that share disorders with AP2M1: view

No data available for UniProtKB/Swiss-Prot 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
  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. MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation. (PMID: 17643423) Suzuki E. … Nakayama M. (Exp. Cell Res. 2007) 4 23
  5. Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery. (PMID: 12032142) Geyer M. … Peterlin B.M. (J. Biol. Chem. 2002) 3 4

Products for AP2M1 Gene

Sources for AP2M1 Gene

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