Q92915 · FGF14_HUMAN
- ProteinFibroblast growth factor 14
- GeneFGF14
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids247 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Probably involved in nervous system development and 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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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | nucleus | |
Molecular Function | growth factor activity | |
Molecular Function | heparin binding | |
Molecular Function | sodium channel regulator activity | |
Biological Process | cell-cell signaling | |
Biological Process | JNK cascade | |
Biological Process | nervous system development | |
Biological Process | signal transduction |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameFibroblast growth factor 14
- Short namesFGF-14
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ92915
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Spinocerebellar ataxia 27A (SCA27A)
- Note
- DescriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27A is an autosomal dominant, slowly progressive form characterized by gait disturbances, ataxia with tremor, dysarthria, orofacial dyskinesia, gaze-evoked nystagmus, and learning disabilities. There is significant variability, and patients show various combinations of neurologic features.
- See alsoMIM:193003
Natural variants in SCA27A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022736 | 145 | F>S | in SCA27A; dbSNP:rs104894393 | |
VAR_087533 | 147-247 | missing | in SCA27A |
Spinocerebellar ataxia 27B, late-onset (SCA27B)
- Note
- DescriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27B is an autosomal dominant, slowly progressive form characterized by the onset of gait and appendicular ataxia in adulthood.
- See alsoMIM:620174
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022735 | 42 | in dbSNP:rs141304687 | |||
Sequence: G → C | ||||||
Natural variant | VAR_082821 | 44 | In isoform Q92915-2; in a colorectal cancer; dbSNP:rs2139298142 | |||
Sequence: W → C | ||||||
Natural variant | VAR_022736 | 145 | in SCA27A; dbSNP:rs104894393 | |||
Sequence: F → S | ||||||
Natural variant | VAR_087533 | 147-247 | in SCA27A | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 336 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000147610 | 1-247 | Fibroblast growth factor 14 | |||
Sequence: MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQDPQLKGIVTRLYCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMNGEGYLYPSELFTPECKFKESVFENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNRVKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTPSKSTSASAIMNGGKPVNKSKTT |
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with SCN8A (PubMed:26900580).
Binary interactions
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-38 | Disordered | ||||
Sequence: MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRG | ||||||
Compositional bias | 13-29 | Basic and acidic residues | ||||
Sequence: KRQAREQHWDRPSASRR | ||||||
Region | 214-247 | Disordered | ||||
Sequence: VGETVPKPGVTPSKSTSASAIMNGGKPVNKSKTT | ||||||
Compositional bias | 222-247 | Polar residues | ||||
Sequence: GVTPSKSTSASAIMNGGKPVNKSKTT |
Sequence similarities
Belongs to the heparin-binding growth factors family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q92915-1
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
- Length247
- Mass (Da)27,702
- Last updated1997-02-01 v1
- Checksum427C3373198B967E
Q92915-2
- Name2
- SynonymsIsoform 1B
- Differences from canonical
- 1-64: MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQ → MVKPVPLFRRTDFKLLLCNHKDLFFLRVSKLLDCFSPKSMWFLWNIFSKGTHMLQCLCGKSLKKNKNPT
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A9L9PY24 | A0A9L9PY24_HUMAN | FGF14 | 89 | ||
A0A9L9PXI9 | A0A9L9PXI9_HUMAN | FGF14 | 158 | ||
A0A9L9PXK7 | A0A9L9PXK7_HUMAN | FGF14 | 213 | ||
A0A9L9PWZ4 | A0A9L9PWZ4_HUMAN | FGF14 | 89 | ||
A0A9L9PX77 | A0A9L9PX77_HUMAN | FGF14 | 163 |
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_029051 | 1-64 | in isoform 2 | |||
Sequence: MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQ → MVKPVPLFRRTDFKLLLCNHKDLFFLRVSKLLDCFSPKSMWFLWNIFSKGTHMLQCLCGKSLKKNKNPT | ||||||
Compositional bias | 13-29 | Basic and acidic residues | ||||
Sequence: KRQAREQHWDRPSASRR | ||||||
Compositional bias | 222-247 | Polar residues | ||||
Sequence: GVTPSKSTSASAIMNGGKPVNKSKTT |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U66200 EMBL· GenBank· DDBJ | AAB18916.1 EMBL· GenBank· DDBJ | mRNA | ||
AY188178 EMBL· GenBank· DDBJ | AAO31806.1 EMBL· GenBank· DDBJ | mRNA | ||
AE014293 EMBL· GenBank· DDBJ | AAN16025.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL160153 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL512629 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL591909 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL356263 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC100920 EMBL· GenBank· DDBJ | AAI00921.1 EMBL· GenBank· DDBJ | mRNA | ||
BC100921 EMBL· GenBank· DDBJ | AAI00922.1 EMBL· GenBank· DDBJ | mRNA | ||
BC100922 EMBL· GenBank· DDBJ | AAI00923.1 EMBL· GenBank· DDBJ | mRNA |