P05549 · AP2A_HUMAN
- ProteinTranscription factor AP-2-alpha
- GeneTFAP2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids437 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTranscription factor AP-2-alpha
- Short namesAP2-alpha
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP05549
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Branchiooculofacial syndrome (BOFS)
- Note
- DescriptionA syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.
- See alsoMIM:113620
Natural variants in BOFS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_045838 | 249 | L>P | in BOFS | |
VAR_045839 | 254 | R>G | in BOFS; dbSNP:rs151344528 | |
VAR_045840 | 255 | R>G | in BOFS; dbSNP:rs121909574 | |
VAR_045841 | 262 | G>E | in BOFS; dbSNP:rs121909575 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 239 | No phosphorylation. | ||||
Sequence: S → A | ||||||
Natural variant | VAR_045838 | 249 | in BOFS | |||
Sequence: L → P | ||||||
Natural variant | VAR_045839 | 254 | in BOFS; dbSNP:rs151344528 | |||
Sequence: R → G | ||||||
Natural variant | VAR_045840 | 255 | in BOFS; dbSNP:rs121909574 | |||
Sequence: R → G | ||||||
Natural variant | VAR_045841 | 262 | in BOFS; dbSNP:rs121909575 | |||
Sequence: G → E |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 4 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, cross-link, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000184796 | 1-437 | UniProt | Transcription factor AP-2-alpha | |||
Sequence: MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK | |||||||
Cross-link | 10 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate | ||||
Sequence: K | |||||||
Cross-link | 10 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate | ||||
Sequence: K | |||||||
Cross-link | 177 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Cross-link | 184 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 185 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 187 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 222 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 223 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 225 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 239 | UniProt | Phosphoserine; by PKA | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 239 | PRIDE | Phosphoserine | ||||
Sequence: S |
Post-translational modification
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P05549 | ACOT1 Q86TX2 | 2 | EBI-347351, EBI-11109648 | |
BINARY | P05549 | EP300 Q09472 | 7 | EBI-347351, EBI-447295 | |
BINARY | P05549 | GSTO2 Q9H4Y5 | 4 | EBI-347351, EBI-10194609 | |
BINARY | P05549 | MAX P61244 | 2 | EBI-347351, EBI-751711 | |
BINARY | P05549 | MKRN3 Q13064 | 3 | EBI-347351, EBI-2340269 | |
BINARY | P05549 | NPM1 P06748 | 6 | EBI-347351, EBI-78579 | |
BINARY | P05549 | UBE2I P63279 | 4 | EBI-347351, EBI-80168 | |
BINARY | P05549-5 | GSTO2 Q9H4Y5 | 6 | EBI-12194905, EBI-10194609 | |
BINARY | P05549-5 | INCA1 Q0VD86 | 3 | EBI-12194905, EBI-6509505 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 14-107 | Disordered | ||||
Sequence: CEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGL | ||||||
Compositional bias | 23-48 | Polar residues | ||||
Sequence: NGTARLPQLGTVGQSPYTSAPPLSHT | ||||||
Compositional bias | 49-67 | Pro residues | ||||
Sequence: PNADFQPPYFPPPYQPIYP | ||||||
Motif | 57-62 | PPxY motif | ||||
Sequence: YFPPPY | ||||||
Compositional bias | 68-107 | Polar residues | ||||
Sequence: QSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGL | ||||||
Region | 280-410 | H-S-H (helix-span-helix), dimerization | ||||
Sequence: RRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMD | ||||||
Region | 414-437 | Disordered | ||||
Sequence: LSNNPNSHTDNNAKSSDKEEKHRK |
Domain
Sequence similarities
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing. Experimental confirmation may be lacking for some isoforms.
P05549-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsAP-2A
- Length437
- Mass (Da)48,062
- Last updated1989-07-01 v1
- ChecksumFB8FA33C3AEED71F
P05549-5
- Name2
- Differences from canonical
- 1-15: MLWKLTDNIKYEDCE → MLVHSFSAM
P05549-2
- Name4
- SynonymsAP-2B
- NoteMay be an aberrantly processed form with no significant distribution in vivo.
- Differences from canonical
- 296-437: EAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK → KRIHLLTRRNFLLGKWIIFSGQMFGRILCQLGSFIFAENIARCEWNYFMAKRNICMYSYTSILLPSFPLP
P05549-6
- Name5
- Differences from canonical
- 1-15: MLWKLTDNIKYEDCE → MSILAKMGDWQ
Computationally mapped potential isoform sequences
There are 8 potential isoforms mapped to this entry
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_043268 | 1-15 | in isoform 2 | |||
Sequence: MLWKLTDNIKYEDCE → MLVHSFSAM | ||||||
Alternative sequence | VSP_047050 | 1-15 | in isoform 5 | |||
Sequence: MLWKLTDNIKYEDCE → MSILAKMGDWQ | ||||||
Compositional bias | 23-48 | Polar residues | ||||
Sequence: NGTARLPQLGTVGQSPYTSAPPLSHT | ||||||
Compositional bias | 49-67 | Pro residues | ||||
Sequence: PNADFQPPYFPPPYQPIYP | ||||||
Compositional bias | 68-107 | Polar residues | ||||
Sequence: QSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGL | ||||||
Alternative sequence | VSP_006401 | 296-437 | in isoform 4 | |||
Sequence: EAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK → KRIHLLTRRNFLLGKWIIFSGQMFGRILCQLGSFIFAENIARCEWNYFMAKRNICMYSYTSILLPSFPLP |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M36711 EMBL· GenBank· DDBJ | AAA35539.1 EMBL· GenBank· DDBJ | mRNA | ||
M61156 EMBL· GenBank· DDBJ | AAA02487.1 EMBL· GenBank· DDBJ | mRNA | ||
X52611 EMBL· GenBank· DDBJ | CAA36842.1 EMBL· GenBank· DDBJ | mRNA | ||
X77343 EMBL· GenBank· DDBJ | CAB59735.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL138885 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471087 EMBL· GenBank· DDBJ | EAW55249.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC017754 EMBL· GenBank· DDBJ | AAH17754.1 EMBL· GenBank· DDBJ | mRNA |