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Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes bi... See more...
Aliases for AAK1 Gene
Aliases for AAK1 Gene
External Ids for AAK1 Gene
- HGNC: 19679
- Entrez Gene: 22848
- Ensembl: ENSG00000115977
- OMIM: 616405
- UniProtKB: Q2M2I8
Previous GeneCards Identifiers for AAK1 Gene
- GC02M069717
- GC02M069899
- GC02M069683
- GC02M069619
- GC02M069561
- GC02M069685
- GC02M069421
Summaries for AAK1 Gene
-
Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for AAK1 Gene
AAK1 (AP2 Associated Kinase 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BMP2K.
UniProtKB/Swiss-Prot Summary for AAK1 Gene
-
Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.
Additional gene information for AAK1 Gene
- Monarch Initiative
- Search for AAK1 at DataMed
- Search for AAK1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AAK1 Gene
Genomics for AAK1 Gene
GeneHancer (GH) Regulatory Elements for AAK1 Gene
Promoters and enhancers for AAK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around AAK1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the AAK1 gene promoter:
-
- AML1a
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- Lmo2
- NF-1
Genomic Locations for AAK1 Gene
Genomic Locations for AAK1 Gene
- chr2:69,457,995-69,674,349
- (GRCh38/hg38)
- Size:
- 216,355 bases
- Orientation:
- Minus strand
- chr2:69,685,127-69,901,481
- (GRCh37/hg19)
- Size:
- 216,355 bases
- Orientation:
- Minus strand
Genomic View for AAK1 Gene
Genes around AAK1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p13.3 by HGNC
- 2p13.3 by Entrez Gene
- 2p13.3 by Ensembl
AAK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AAK1 Gene
Proteins for AAK1 Gene
-
Protein details for AAK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2M2I8-AAK1_HUMAN
- Recommended name:
- AP2-associated protein kinase 1
- Protein Accession:
- Q2M2I8
- Q4ZFZ3
- Q53RX6
- Q9UPV4
Protein attributes for AAK1 Gene
- Size:
- 961 amino acids
- Molecular mass:
- 103885 Da
- Quaternary structure:
-
- Interacts with alpha-adaptin, AP-2, clathrin, NUMB and EPS15 isoform 2. Interacts with membrane-bound activated NOTCH1 but not with the inactive full-length form of NOTCH1. Preferentially interacts with monoubiquitinated activated NOTCH1 compared to the non-ubiquitinated form.
- SequenceCaution:
-
- Sequence=BAA83000.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for AAK1 Gene
Selected DME Specific Peptides for AAK1 Gene
- Q2M2I8:
-
- DIWALGCLLYKL
- YVLCDFGSATNKF
- FTLPFGESQVAICDG
- MNQRLQT
- VWEVLILM
- EVLQIFCDTCEAVARLHQCKTPIIHRDLKVENILL
- DNFSKLT
- LAEGGFA
- EIKKYTTLSYRAPEM
- TETSIAPRQRPKA
- FTIPDNSRYS
Post-translational modifications for AAK1 Gene
- Autophosphorylated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for AAK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-AAK1 Antibody (HPA017931) and Anti-AAK1 Antibody (HPA020289)
-
Custom Antibody ServicesOriGene Antibodies for AAK1
- Novus Biologicals Antibodies for AAK1
-
Abcam antibodies for AAK1
- Invitrogen Antibodies for AAK1 (AFLGC-AAK1)
- antibodies-online: Show 32 available AAK1 Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for AAK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for AAK1
Protein Products
- Atlas Antibodies PrEST Antigen AAK1 (APrEST73459) and PrEST Antigen AAK1 (APrEST73458)
- Creative Biomart Recombinant Human AAK1 cell lysate
-
OriGene Purified Proteins for AAK1
- Search Origene for MassSpec and Protein Over-expression Lysates for AAK1
- Origene Custom Protein Services for AAK1
- antibodies-online: Search results for available AAK1 related products ranked by validation data
-
Abcam proteins for AAK1
Assay Products
- antibodies-online: Search results for available AAK1 related products ranked by validation data
-
Boster Bio ELISA Kits for AAK1
Domains & Families for AAK1 Gene
Gene Families for AAK1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for AAK1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AAK1 Gene
- GenScript: Design optimal peptide antigens:
-
- Adaptor-associated kinase 1 (AAK1_HUMAN)
- AAK1 protein (B7ZLC4_HUMAN)
- AP2 associated kinase 1, isoform CRA_a (D6W5G0_HUMAN)
- AAK1 protein (Q9BUD9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q2M2I8UniProtKB/Swiss-Prot:
AAK1_HUMAN :- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
- Family:
-
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Function for AAK1 Gene
Molecular function for AAK1 Gene
- UniProtKB/Swiss-Prot Function:
- Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Stimulated by clathrin.
Enzyme Numbers (IUBMB) for AAK1 Gene
Phenotypes From GWAS Catalog for AAK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | TAS | -- |
| GO:0005112 | Notch binding | IDA | 21464124 |
| GO:0005515 | protein binding | IPI | 22645275 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for AAK1 Gene
- MGI mutant phenotypes for AAK1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for AAK1:
-
- Decreased substrate adherent cell growth
- Increased shRNA abundance (Z-score > 2)
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Transferrin accumulation in the perinuclear area
- Decreased vesicular stomatitis virus (VSV) infection
Animal Models for AAK1 Gene
- MGI Knock Outs for AAK1:
-
- Aak1 Aak1<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for AAK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AAK1
- genomics-online: gRNA clones - Search for available AAK1 gRNA products
- Overview of 106 available AAK1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AAK1 - Select products 50% OFF >
- * AAK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AAK1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for AAK1
miRNA for AAK1 Gene
- miRTarBase miRNAs that target AAK1
-
- bta-mir-10a (MIRT053806)
- bta-mir-17-5p (MIRT053877)
- bta-mir-155 (MIRT053964)
- bta-mir-181a (MIRT053991)
- bta-mir-221 (MIRT054003)
- bta-mir-205 (MIRT054017)
- hsa-mir-3663-3p (MIRT159904)
- hsa-mir-7848-3p (MIRT236793)
- hsa-mir-155-5p (MIRT441315)
- hsa-mir-20a-5p (MIRT441316)
- hsa-mir-106b-5p (MIRT441317)
- hsa-mir-622 (MIRT539545)
- hsa-mir-148a-5p (MIRT539546)
- hsa-mir-3942-3p (MIRT539547)
- hsa-mir-5100 (MIRT539548)
- hsa-mir-26a-2-3p (MIRT539549)
- hsa-mir-26a-1-3p (MIRT539550)
- hsa-mir-6731-3p (MIRT539551)
- hsa-mir-892c-5p (MIRT539552)
- hsa-mir-1276 (MIRT539553)
- hsa-mir-6839-3p (MIRT570746)
- hsa-mir-3679-3p (MIRT570747)
- hsa-mir-6826-3p (MIRT570748)
- hsa-mir-629-5p (MIRT570749)
- hsa-mir-4261 (MIRT570750)
- hsa-mir-875-3p (MIRT570751)
- hsa-mir-29a-5p (MIRT570752)
- hsa-mir-3920 (MIRT570753)
- hsa-mir-4308 (MIRT570754)
- hsa-mir-331-3p (MIRT570755)
- hsa-mir-6810-3p (MIRT570756)
- hsa-mir-6801-3p (MIRT570757)
- hsa-mir-587 (MIRT570758)
- hsa-mir-145-3p (MIRT570759)
- hsa-mir-4698 (MIRT570760)
- hsa-mir-8063 (MIRT570761)
- hsa-mir-4272 (MIRT570762)
- hsa-mir-580-5p (MIRT570763)
- hsa-mir-3662 (MIRT570764)
- hsa-mir-377-3p (MIRT613387)
- hsa-mir-216b-3p (MIRT613388)
- hsa-mir-362-3p (MIRT613389)
- hsa-mir-329-3p (MIRT613390)
- hsa-mir-8485 (MIRT613391)
- hsa-mir-3671 (MIRT629400)
- hsa-mir-372-5p (MIRT629401)
- hsa-mir-888-5p (MIRT629402)
- hsa-mir-8070 (MIRT633180)
- hsa-mir-6759-3p (MIRT633181)
- hsa-mir-18a-3p (MIRT633182)
- hsa-mir-324-3p (MIRT633183)
- hsa-mir-1913 (MIRT633184)
- hsa-mir-3653-5p (MIRT633185)
- hsa-mir-371a-5p (MIRT633186)
- hsa-mir-4314 (MIRT639012)
- hsa-mir-675-5p (MIRT639013)
- hsa-mir-4466 (MIRT639014)
- hsa-mir-6508-3p (MIRT639015)
- hsa-mir-4726-5p (MIRT639016)
- hsa-mir-4640-5p (MIRT639017)
- hsa-mir-24-3p (MIRT639018)
- hsa-mir-4284 (MIRT639019)
- hsa-mir-4746-3p (MIRT639020)
- hsa-mir-378g (MIRT639021)
- hsa-mir-4486 (MIRT639022)
- hsa-mir-6860 (MIRT639023)
- hsa-mir-612 (MIRT639024)
- hsa-mir-5189-5p (MIRT639025)
- hsa-mir-3187-5p (MIRT639026)
- hsa-mir-1285-3p (MIRT639027)
- hsa-mir-764 (MIRT639028)
- hsa-mir-500a-5p (MIRT639029)
- hsa-mir-2355-5p (MIRT661031)
- hsa-mir-6793-3p (MIRT661032)
- hsa-mir-889-5p (MIRT661033)
- hsa-mir-6131 (MIRT669703)
- hsa-mir-3663-5p (MIRT669704)
- hsa-mir-616-5p (MIRT669705)
- hsa-mir-373-5p (MIRT669706)
- hsa-mir-371b-5p (MIRT669707)
- hsa-mir-6513-3p (MIRT669708)
- hsa-mir-6878-3p (MIRT672633)
- hsa-mir-378a-5p (MIRT672634)
- hsa-mir-6744-3p (MIRT672635)
- hsa-mir-4757-5p (MIRT672636)
- hsa-mir-6778-3p (MIRT672637)
- hsa-mir-212-5p (MIRT672638)
- hsa-mir-1224-3p (MIRT672639)
- hsa-mir-6813-3p (MIRT672640)
- hsa-mir-519d-3p (MIRT728418)
- hsa-mir-20b-5p (MIRT728419)
- hsa-mir-93-5p (MIRT728420)
- hsa-mir-17-5p (MIRT728421)
- hsa-mir-3065-5p (MIRT784485)
- hsa-mir-3529-3p (MIRT784913)
- hsa-mir-3978 (MIRT785496)
- hsa-mir-497-3p (MIRT786913)
- hsa-mir-548aa (MIRT787395)
- hsa-mir-548ap-3p (MIRT787451)
- hsa-mir-548t-3p (MIRT787576)
- hsa-mir-6776-3p (MIRT788660)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AAK1
- Browse OriGene Inhibitory RNA Products For AAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAK1
- genomics-online: shRNA clones - Search for available AAK1 shRNA products
- Overview of 106 available AAK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AAK1
- Addgene plasmids for AAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AAK1
- genomics-online: cdna clones - Search for available AAK1 CDNA products
- Overview of 106 available AAK1 gene related products
- orf clones - Search for available AAK1 ORF products
- Overview of 106 available AAK1 gene related products
- Applied Biological Materials (abm): Clones for AAK1 - Select products 50% OFF >
- * AAK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AAK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for AAK1
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AAK1 Gene
Localization for AAK1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for AAK1 Gene
- Cell membrane; Peripheral membrane protein. Membrane, clathrin-coated pit. Note=Active when found in clathrin-coated pits at the plasma membrane. In neuronal cells, enriched at presynaptic terminals. In non-neuronal cells, enriched at leading edge of migrating cells (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
| mitochondrion | 1 |
| endosome | 1 |
- Cytosol (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005905 | clathrin-coated pit | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for AAK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin-mediated endocytosis | ||
| 2 | Vesicle-mediated transport | ||
Pathways by source for AAK1 Gene
4 Reactome pathways for AAK1 Gene
Interacting Proteins for AAK1 Gene
Selected Interacting proteins:
Q2M2I8-AAK1_HUMAN
ENSP00000386456
for AAK1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for AAK1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IDA | 17494869 |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0032880 | regulation of protein localization | IDA | 18657069 |
| GO:0045747 | positive regulation of Notch signaling pathway | IDA | 21464124 |
Drugs & Compounds for AAK1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
- Atlas Antibodies PrEST Antigen AAK1 (APrEST73459) and PrEST Antigen AAK1 (APrEST73458)
- Creative Biomart Recombinant Human AAK1 cell lysate
Transcripts for AAK1 Gene
mRNA/cDNA for AAK1 Gene
- (3) REFSEQ mRNAs :
- (25) Additional mRNA sequences :
- (158) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000606389 8964 bps (ENST00000606389.5)
- ENST00000409068 2606 bps (ENST00000409068.5)
- ENST00000623317 1019 bps (ENST00000623317.3)
- ENST00000409085 21157 bps (ENST00000409085.8)
- ENST00000489327 1432 bps (ENST00000489327.1)
CRISPR Products
-
OriGene CRISPR knockouts for AAK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AAK1
- genomics-online: gRNA clones - Search for available AAK1 gRNA products
- Overview of 106 available AAK1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for AAK1 - Select products 50% OFF >
- * AAK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * AAK1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for AAK1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AAK1
- Browse OriGene Inhibitory RNA Products For AAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAK1
- genomics-online: shRNA clones - Search for available AAK1 shRNA products
- Overview of 106 available AAK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for AAK1
- Addgene plasmids for AAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AAK1
- genomics-online: cdna clones - Search for available AAK1 CDNA products
- Overview of 106 available AAK1 gene related products
- orf clones - Search for available AAK1 ORF products
- Overview of 106 available AAK1 gene related products
- Applied Biological Materials (abm): Clones for AAK1 - Select products 50% OFF >
- * AAK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * AAK1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for AAK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- T Helper Cells Peripheral Blood
- Neurons (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for AAK1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Cortex (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.8), Brain - Cerebellar Hemisphere (x4.4), and Brain - Cerebellum (x4.4).
This gene is overexpressed in Lung (20.1), Frontal cortex (8.4), and Brain (8.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AAK1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of AAK1 Gene:
AAK1SOURCE GeneReport for Unigene cluster for AAK1 Gene:
Hs.468878mRNA Expression by UniProt/SwissProt for AAK1 Gene:
Q2M2I8-AAK1_HUMAN
Tissue specificity:
Detected in brain, heart and liver. Isoform 1 is the predominant isoform in brain.
Evidence on tissue expression from TISSUES for AAK1 Gene
- Nervous system(4.9)
- Liver(4.2)
- Blood(4.1)
Primer Products
-
OriGene qPCR primer pairs for AAK1
-
OriGene qPCR primer pairs and template standards for AAK1
- genomics-online: primer clones - Search for available AAK1 Primer products
- Overview of 106 available AAK1 gene related products
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AAK1 Gene
Orthologs for AAK1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AAK1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AAK1 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AAK1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Aak1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aak1 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AAK1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AAK1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | AAK1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | AAK1 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | AAK1 (1 of 2) 33 |
|
OneToMany | |
| aak1 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Nak 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | tag-257 33 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARK1 33 |
|
ManyToMany | |
| PRK1 33 |
|
ManyToMany | |||
| AKL1 33 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
| Cin.9763 32 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.9763 32 |
|
- Species where no ortholog for AAK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Evolution for AAK1 Gene
- ENSEMBL:
- Gene Tree for AAK1 (if available)
- TreeFam:
- Gene Tree for AAK1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for AAK1: view image
Paralogs for AAK1 Gene
Variants for AAK1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000014394 | -- | 69,470,603(-) | G/T | 3_prime_UTR_variant | |
| rs1000031983 | -- | 69,572,817(-) | T/C | intron_variant | |
| rs1000045646 | -- | 69,467,528(-) | G/A | 3_prime_UTR_variant | |
| rs1000049146 | -- | 69,517,044(-) | T/C | intron_variant | |
| rs1000073201 | -- | 69,520,526(-) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2668895 | CNV | deletion | 23128226 |
| esv2674177 | CNV | deletion | 23128226 |
| esv33940 | CNV | loss | 17666407 |
| esv3396390 | CNV | insertion | 20981092 |
| esv3591183 | CNV | loss | 21293372 |
| esv3591184 | CNV | loss | 21293372 |
| nsv214841 | CNV | deletion | 16902084 |
| nsv527716 | CNV | loss | 19592680 |
| nsv819601 | CNV | loss | 19587683 |
| nsv834252 | CNV | loss | 17160897 |
| nsv834253 | CNV | loss | 17160897 |
| nsv954240 | CNV | deletion | 24416366 |
| nsv961413 | CNV | duplication | 23825009 |
| nsv961414 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
12.51;
94.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for AAK1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- AAK1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAK1 Gene
Disorders for AAK1 Gene
Additional Disease Information for AAK1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for AAK1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AAK1 Gene
Publications for AAK1 Gene
- AAK1 regulates Numb function at an early step in clathrin-mediated endocytosis. (PMID: 18657069) Sorensen EB … Conner SD (Traffic (Copenhagen, Denmark) 2008) 3 4 23 56
- Differential requirements for AP-2 in clathrin-mediated endocytosis. (PMID: 12952931) Conner SD … Schmid SL (The Journal of cell biology 2003) 3 4 23 56
- The adaptor-associated kinase 1, AAK1, is a positive regulator of the Notch pathway. (PMID: 21464124) Gupta-Rossi N … Israël A (The Journal of biological chemistry 2011) 3 4 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
- Genomewide association study for onset age in Parkinson disease. (PMID: 19772629) Latourelle JC … GenePD Investigators, Coordinators and Molecular Genetic Laboratories (BMC medical genetics 2009) 3 43 56
ExternalLinks
Products for AAK1 Gene
- Custom Antibody ServicesOriGene Antibodies for AAK1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for AAK1
- Search Origene for MassSpec and Protein Over-expression Lysates for AAK1
- Origene Custom Protein Services for AAK1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for AAK1
- Browse OriGene Inhibitory RNA Products For AAK1
- OriGene qPCR primer pairs for AAK1
- OriGene qPCR primer pairs and template standards for AAK1
- OriGene CRISPR knockouts for AAK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AAK1
- Sino Biological Human cDNA Clone for AAK1
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for AAK1
- Novus Biologicals proteins and lysates for AAK1
- Browse Antibodies
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- antibodies-online: Show 32 available AAK1 Antibodies ranked by validation data
- antibodies-online: Search results for available AAK1 related products ranked by validation data
- antibodies-online: Search results for available AAK1 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for AAK1
- Search Santa Cruz Biotechnology (SCBT) for AAK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for AAK1
- Horizon Cell Lines for AAK1
- genomics-online: cdna clones - Search for available AAK1 CDNA products
- Overview of 106 available AAK1 gene related products
- orf clones - Search for available AAK1 ORF products
- Overview of 106 available AAK1 gene related products
- genomics-online: gRNA clones - Search for available AAK1 gRNA products
- Overview of 106 available AAK1 gene related products
- genomics-online: primer clones - Search for available AAK1 Primer products
- Overview of 106 available AAK1 gene related products
- genomics-online: shRNA clones - Search for available AAK1 shRNA products
- Overview of 106 available AAK1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AAK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AAK1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for AAK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AAK1
- Browse Boster Bio Antibodies
- Boster Bio ELISA Kits for AAK1
Sources for AAK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource