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UniProtKB - Q92915 (FGF14_HUMAN)
Protein
Fibroblast growth factor 14
Gene
FGF14
Organism
Homo sapiens (Human)
Status
Functioni
Probably involved in nervous system development and function.
GO - Molecular functioni
- growth factor activity Source: ProtInc
- heparin binding Source: MGI
- sodium channel regulator activity Source: GO_Central
GO - Biological processi
- cell-cell signaling Source: ProtInc
- JNK cascade Source: MGI
- nervous system development Source: ProtInc
- regulation of voltage-gated sodium channel activity Source: GO_Central
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Growth factor |
Enzyme and pathway databases
PathwayCommonsi | Q92915 |
Reactomei | R-HSA-5576892, Phase 0 - rapid depolarisation |
SignaLinki | Q92915 |
SIGNORi | Q92915 |
Names & Taxonomyi
Protein namesi | Recommended name: Fibroblast growth factor 14Short name: FGF-14 Alternative name(s): Fibroblast growth factor homologous factor 4 Short name: FHF-4 |
Gene namesi | Name:FGF14 Synonyms:FHF4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3671, FGF14 |
MIMi | 601515, gene |
neXtProti | NX_Q92915 |
VEuPathDBi | HostDB:ENSG00000102466 |
Subcellular locationi
Nucleus
- Nucleus Curated
Extracellular region or secreted
- extracellular region Source: InterPro
Nucleus
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 27 (SCA27)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia is 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. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022736 | 145 | F → S in SCA27. 1 PublicationCorresponds to variant dbSNP:rs104894393EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 2259 |
MalaCardsi | FGF14 |
MIMi | 609307, phenotype |
OpenTargetsi | ENSG00000102466 |
Orphaneti | 98764, Spinocerebellar ataxia type 27 |
PharmGKBi | PA28110 |
Miscellaneous databases
Pharosi | Q92915, Tbio |
Genetic variation databases
BioMutai | FGF14 |
DMDMi | 2494463 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000147610 | 1 – 247 | Fibroblast growth factor 14Add BLAST | 247 |
Proteomic databases
MassIVEi | Q92915 |
PaxDbi | Q92915 |
PeptideAtlasi | Q92915 |
PRIDEi | Q92915 |
ProteomicsDBi | 75600 [Q92915-1] 75601 [Q92915-2] |
PTM databases
iPTMneti | Q92915 |
PhosphoSitePlusi | Q92915 |
Expressioni
Tissue specificityi
Nervous system.
Gene expression databases
Bgeei | ENSG00000102466, Expressed in secondary oocyte and 162 other tissues |
Genevisiblei | Q92915, HS |
Organism-specific databases
HPAi | ENSG00000102466, Tissue enhanced (brain, cervix) |
Interactioni
Subunit structurei
Interacts with SCN8A (PubMed:26900580).
1 PublicationBinary interactionsi
Q92915
With | #Exp. | IntAct |
---|---|---|
APP [P05067] | 3 | EBI-10489272,EBI-77613 |
Isoform 2 [Q92915-2]
GO - Molecular functioni
- growth factor activity Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 108550, 41 interactors |
IntActi | Q92915, 18 interactors |
STRINGi | 9606.ENSP00000365301 |
Miscellaneous databases
RNActi | Q92915, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 38 | DisorderedSequence analysisAdd BLAST | 38 | |
Regioni | 214 – 247 | DisorderedSequence analysisAdd BLAST | 34 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 13 – 29 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 222 – 247 | Polar residuesSequence analysisAdd BLAST | 26 |
Sequence similaritiesi
Belongs to the heparin-binding growth factors family.Curated
Phylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000156984 |
HOGENOMi | CLU_081609_2_0_1 |
InParanoidi | Q92915 |
OMAi | XAMYREP |
OrthoDBi | 1192273at2759 |
PhylomeDBi | Q92915 |
TreeFami | TF317805 |
Family and domain databases
CDDi | cd00058, FGF, 1 hit |
InterProi | View protein in InterPro IPR028284, FGF14 IPR002209, Fibroblast_GF_fam IPR008996, IL1/FGF |
PANTHERi | PTHR11486, PTHR11486, 1 hit PTHR11486:SF18, PTHR11486:SF18, 1 hit |
Pfami | View protein in Pfam PF00167, FGF, 1 hit |
PRINTSi | PR00263, HBGFFGF |
SMARTi | View protein in SMART SM00442, FGF, 1 hit |
SUPFAMi | SSF50353, SSF50353, 1 hit |
PROSITEi | View protein in PROSITE PS00247, HBGF_FGF, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q92915-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK
60 70 80 90 100
VRIFGLKKRR LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN
110 120 130 140 150
STLFNLIPVG LRVVAIQGVK TGLYIAMNGE GYLYPSELFT PECKFKESVF
160 170 180 190 200
ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ AMKGNRVKKT KPAAHFLPKP
210 220 230 240
LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP VNKSKTT
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_022735 | 42 | G → C1 PublicationCorresponds to variant dbSNP:rs141304687EnsemblClinVar. | 1 | ||
Natural variantiVAR_022736 | 145 | F → S in SCA27. 1 PublicationCorresponds to variant dbSNP:rs104894393EnsemblClinVar. | 1 | ||
Isoform 2 (identifier: Q92915-2) | |||||
Natural variantiVAR_082821 | 44 | W → C in a colorectal cancer. Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029051 | 1 – 64 | MAAAI…RLRRQ → MVKPVPLFRRTDFKLLLCNH KDLFFLRVSKLLDCFSPKSM WFLWNIFSKGTHMLQCLCGK SLKKNKNPT in isoform 2. 2 PublicationsAdd BLAST | 64 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66200 mRNA Translation: AAB18916.1 AY188178 mRNA Translation: AAO31806.1 AE014293 Genomic DNA Translation: AAN16025.1 AL160153 Genomic DNA No translation available. AL512629 Genomic DNA No translation available. AL591909 Genomic DNA No translation available. AL356263 Genomic DNA No translation available. BC100920 mRNA Translation: AAI00921.1 BC100921 mRNA Translation: AAI00922.1 BC100922 mRNA Translation: AAI00923.1 |
CCDSi | CCDS9500.1 [Q92915-2] CCDS9501.1 [Q92915-1] |
RefSeqi | NP_004106.1, NM_004115.3 [Q92915-1] NP_787125.1, NM_175929.2 [Q92915-2] |
Genome annotation databases
Ensembli | ENST00000376131; ENSP00000365301; ENSG00000102466 [Q92915-2] ENST00000376143; ENSP00000365313; ENSG00000102466 |
GeneIDi | 2259 |
KEGGi | hsa:2259 |
MANE-Selecti | ENST00000376143.5; ENSP00000365313.4; NM_004115.4; NP_004106.1 |
UCSCi | uc001vpe.3, human [Q92915-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66200 mRNA Translation: AAB18916.1 AY188178 mRNA Translation: AAO31806.1 AE014293 Genomic DNA Translation: AAN16025.1 AL160153 Genomic DNA No translation available. AL512629 Genomic DNA No translation available. AL591909 Genomic DNA No translation available. AL356263 Genomic DNA No translation available. BC100920 mRNA Translation: AAI00921.1 BC100921 mRNA Translation: AAI00922.1 BC100922 mRNA Translation: AAI00923.1 |
CCDSi | CCDS9500.1 [Q92915-2] CCDS9501.1 [Q92915-1] |
RefSeqi | NP_004106.1, NM_004115.3 [Q92915-1] NP_787125.1, NM_175929.2 [Q92915-2] |
3D structure databases
SMRi | Q92915 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108550, 41 interactors |
IntActi | Q92915, 18 interactors |
STRINGi | 9606.ENSP00000365301 |
PTM databases
iPTMneti | Q92915 |
PhosphoSitePlusi | Q92915 |
Genetic variation databases
BioMutai | FGF14 |
DMDMi | 2494463 |
Proteomic databases
MassIVEi | Q92915 |
PaxDbi | Q92915 |
PeptideAtlasi | Q92915 |
PRIDEi | Q92915 |
ProteomicsDBi | 75600 [Q92915-1] 75601 [Q92915-2] |
Protocols and materials databases
Antibodypediai | 35193, 208 antibodies from 34 providers |
DNASUi | 2259 |
Genome annotation databases
Ensembli | ENST00000376131; ENSP00000365301; ENSG00000102466 [Q92915-2] ENST00000376143; ENSP00000365313; ENSG00000102466 |
GeneIDi | 2259 |
KEGGi | hsa:2259 |
MANE-Selecti | ENST00000376143.5; ENSP00000365313.4; NM_004115.4; NP_004106.1 |
UCSCi | uc001vpe.3, human [Q92915-1] |
Organism-specific databases
CTDi | 2259 |
DisGeNETi | 2259 |
GeneCardsi | FGF14 |
HGNCi | HGNC:3671, FGF14 |
HPAi | ENSG00000102466, Tissue enhanced (brain, cervix) |
MalaCardsi | FGF14 |
MIMi | 601515, gene 609307, phenotype |
neXtProti | NX_Q92915 |
OpenTargetsi | ENSG00000102466 |
Orphaneti | 98764, Spinocerebellar ataxia type 27 |
PharmGKBi | PA28110 |
VEuPathDBi | HostDB:ENSG00000102466 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000156984 |
HOGENOMi | CLU_081609_2_0_1 |
InParanoidi | Q92915 |
OMAi | XAMYREP |
OrthoDBi | 1192273at2759 |
PhylomeDBi | Q92915 |
TreeFami | TF317805 |
Enzyme and pathway databases
PathwayCommonsi | Q92915 |
Reactomei | R-HSA-5576892, Phase 0 - rapid depolarisation |
SignaLinki | Q92915 |
SIGNORi | Q92915 |
Miscellaneous databases
BioGRID-ORCSi | 2259, 4 hits in 1037 CRISPR screens |
ChiTaRSi | FGF14, human |
GeneWikii | FGF14 |
GenomeRNAii | 2259 |
Pharosi | Q92915, Tbio |
PROi | PR:Q92915 |
RNActi | Q92915, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102466, Expressed in secondary oocyte and 162 other tissues |
Genevisiblei | Q92915, HS |
Family and domain databases
CDDi | cd00058, FGF, 1 hit |
InterProi | View protein in InterPro IPR028284, FGF14 IPR002209, Fibroblast_GF_fam IPR008996, IL1/FGF |
PANTHERi | PTHR11486, PTHR11486, 1 hit PTHR11486:SF18, PTHR11486:SF18, 1 hit |
Pfami | View protein in Pfam PF00167, FGF, 1 hit |
PRINTSi | PR00263, HBGFFGF |
SMARTi | View protein in SMART SM00442, FGF, 1 hit |
SUPFAMi | SSF50353, SSF50353, 1 hit |
PROSITEi | View protein in PROSITE PS00247, HBGF_FGF, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FGF14_HUMAN | |
Accessioni | Q92915Primary (citable) accession number: Q92915 Secondary accession number(s): Q86YN7, Q96QX6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | February 1, 1997 | |
Last modified: | February 23, 2022 | |
This is version 178 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families