O95677 · EYA4_HUMAN
- ProteinEyes absent homolog 4
- GeneEYA4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids639 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalytic activity
- H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate
Cofactor
Features
Showing features for active site, binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | nucleus | |
Molecular Function | metal ion binding | |
Molecular Function | protein tyrosine phosphatase activity | |
Biological Process | anatomical structure morphogenesis | |
Biological Process | cell differentiation | |
Biological Process | chromatin organization | |
Biological Process | DNA repair | |
Biological Process | inner ear development | |
Biological Process | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | |
Biological Process | positive regulation of DNA repair | |
Biological Process | visual perception |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameEyes absent homolog 4
- EC number
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO95677
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Deafness, autosomal dominant, 10 (DFNA10)
- Note
- DescriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
- See alsoMIM:601316
Natural variants in DFNA10
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_074570 | 171 | G>R | in DFNA10; dbSNP:rs1471362858 | |
VAR_079872 | 288-639 | missing | in DFNA10 | |
VAR_074571 | 548 | T>R | in DFNA10 |
Cardiomyopathy, dilated, 1J (CMD1J)
- Note
- DescriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.
- See alsoMIM:605362
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_036248 | 152 | in a colorectal cancer sample; somatic mutation | |||
Sequence: L → R | ||||||
Natural variant | VAR_074570 | 171 | in DFNA10; dbSNP:rs1471362858 | |||
Sequence: G → R | ||||||
Natural variant | VAR_022932 | 277 | in dbSNP:rs9493627 | |||
Sequence: G → S | ||||||
Natural variant | VAR_079872 | 288-639 | in DFNA10 | |||
Sequence: Missing | ||||||
Natural variant | VAR_036249 | 301 | in a colorectal cancer sample; somatic mutation; dbSNP:rs779172192 | |||
Sequence: D → N | ||||||
Natural variant | VAR_074571 | 548 | in DFNA10 | |||
Sequence: T → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 924 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 modified residue, chain, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Modified residue | 1 | UniProt | N-acetylmethionine | ||||
Sequence: M | |||||||
Chain | PRO_0000218651 | 1-639 | UniProt | Eyes absent homolog 4 | |||
Sequence: MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTFTGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTAYSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPGFSTPQPGQTPYSYQMPGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTADGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRKLAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSWLTNALKSLSIISTRSNCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVVIGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL | |||||||
Modified residue (large scale data) | 4 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 14 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 29 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 37 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 47 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Cross-link | 52 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue (large scale data) | 131 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 134 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 139 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 361 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 361 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-72 | Disordered | ||||
Sequence: MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGEN | ||||||
Compositional bias | 10-34 | Polar residues | ||||
Sequence: QSVKKTCTESDVSQSQNSRSMEMQD | ||||||
Compositional bias | 50-72 | Polar residues | ||||
Sequence: SSKLEKSNLSSTSVTTNGTGGEN | ||||||
Region | 210-232 | Disordered | ||||
Sequence: QTQSPLQSGCLSYSPGFSTPQPG | ||||||
Compositional bias | 300-337 | Polar residues | ||||
Sequence: ADGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIK | ||||||
Region | 300-368 | Disordered | ||||
Sequence: ADGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDL |
Sequence similarities
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 5 isoforms produced by Alternative splicing.
O95677-1
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
- Length639
- Mass (Da)69,505
- Last updated2005-07-19 v2
- ChecksumCC59A8FB1527A0EC
O95677-2
- Name2
O95677-3
- Name3
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
O95677-4
- Name4
- Differences from canonical
- 589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ
O95677-5
- Name5
Computationally mapped potential isoform sequences
There are 6 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E7ESD5 | E7ESD5_HUMAN | EYA4 | 570 | ||
A0A8C8KDW0 | A0A8C8KDW0_HUMAN | EYA4 | 591 | ||
A0A804HHY3 | A0A804HHY3_HUMAN | EYA4 | 415 | ||
A0A804HL00 | A0A804HL00_HUMAN | EYA4 | 293 | ||
E9PLN6 | E9PLN6_HUMAN | EYA4 | 616 | ||
F2Z2Y1 | F2Z2Y1_HUMAN | EYA4 | 645 |
Features
Showing features for compositional bias, alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 10-34 | Polar residues | ||||
Sequence: QSVKKTCTESDVSQSQNSRSMEMQD | ||||||
Compositional bias | 50-72 | Polar residues | ||||
Sequence: SSKLEKSNLSSTSVTTNGTGGEN | ||||||
Alternative sequence | VSP_001495 | 70-92 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_042160 | 70-123 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_001496 | 93 | in isoform 2 | |||
Sequence: M → V | ||||||
Sequence conflict | 177 | in Ref. 2; BAH13593 | ||||
Sequence: V → A | ||||||
Compositional bias | 300-337 | Polar residues | ||||
Sequence: ADGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIK | ||||||
Alternative sequence | VSP_001497 | 447-452 | in isoform 3 | |||
Sequence: STYSFA → RCKRRG | ||||||
Alternative sequence | VSP_001498 | 453-639 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_001499 | 589-613 | in isoform 4 and isoform 5 | |||
Sequence: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y17114 EMBL· GenBank· DDBJ | CAA76636.1 EMBL· GenBank· DDBJ | mRNA | ||
Y17847 EMBL· GenBank· DDBJ | CAA76891.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ007993 EMBL· GenBank· DDBJ | CAA07816.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ007994 EMBL· GenBank· DDBJ | CAA07817.1 EMBL· GenBank· DDBJ | mRNA | ||
AK301950 EMBL· GenBank· DDBJ | BAH13593.1 EMBL· GenBank· DDBJ | mRNA | ||
AL024497 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL121959 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL450270 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC041063 EMBL· GenBank· DDBJ | AAH41063.1 EMBL· GenBank· DDBJ | mRNA |