UniProtKB - P61328 (FGF12_HUMAN)
Protein
Fibroblast growth factor 12
Gene
FGF12
Organism
Homo sapiens (Human)
Status
Functioni
Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation.1 Publication
GO - Molecular functioni
- growth factor activity Source: ProtInc
- heparin binding Source: MGI
- ion channel binding Source: BHF-UCL
- sodium channel regulator activity Source: BHF-UCL
GO - Biological processi
- adult locomotory behavior Source: Ensembl
- cardiac muscle cell action potential involved in contraction Source: BHF-UCL
- cell-cell signaling Source: ProtInc
- chemical synaptic transmission Source: Ensembl
- fibroblast growth factor receptor signaling pathway Source: InterPro
- heart development Source: ProtInc
- JNK cascade Source: MGI
- negative regulation of cation channel activity Source: Ensembl
- nervous system development Source: ProtInc
- neuromuscular process Source: Ensembl
- positive regulation of sodium ion transport Source: Ensembl
- regulation of membrane depolarization Source: Ensembl
- regulation of neuronal action potential Source: UniProtKB
- regulation of sodium ion transmembrane transport Source: BHF-UCL
- regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
- regulation of voltage-gated sodium channel activity Source: UniProtKB
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Growth factor |
Enzyme and pathway databases
PathwayCommonsi | P61328 |
Reactomei | R-HSA-5576892, Phase 0 - rapid depolarisation |
SIGNORi | P61328 |
Names & Taxonomyi
Protein namesi | Recommended name: Fibroblast growth factor 12Short name: FGF-12 Alternative name(s): Fibroblast growth factor homologous factor 1 Short name: FHF-1 Myocyte-activating factor |
Gene namesi | Name:FGF12 Synonyms:FGF12B, FHF1 |
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
EuPathDBi | HostDB:ENSG00000114279.13 |
HGNCi | HGNC:3668, FGF12 |
MIMi | 601513, gene |
neXtProti | NX_P61328 |
Subcellular locationi
Nucleus
- Nucleus Curated
Extracellular region or secreted
- extracellular space Source: ProtInc
Nucleus
- nucleus Source: MGI
Other locations
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 47 (EIEE47)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076507 | 114 | R → H in EIEE47; increased function in positive regulation of SCN8A voltage-dependent sodium channel activity. 1 PublicationCorresponds to variant dbSNP:rs886039903EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 114 | R → A: Gain of function, affects voltage dependence of SCN8A fast inactivation. 1 Publication | 1 | |
Mutagenesisi | 114 | R → G: Gain of function, affects voltage dependence of SCN8A fast inactivation. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 2257 |
GeneReviewsi | FGF12 |
MalaCardsi | FGF12 |
MIMi | 617166, phenotype |
OpenTargetsi | ENSG00000114279 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA28108 |
Miscellaneous databases
Pharosi | P61328, Tbio |
Polymorphism and mutation databases
BioMutai | FGF12 |
DMDMi | 47117683 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000147604 | 1 – 243 | Fibroblast growth factor 12Add BLAST | 243 |
Proteomic databases
MassIVEi | P61328 |
PaxDbi | P61328 |
PeptideAtlasi | P61328 |
PRIDEi | P61328 |
ProteomicsDBi | 57295 [P61328-1] 57296 [P61328-2] |
PTM databases
iPTMneti | P61328 |
PhosphoSitePlusi | P61328 |
Expressioni
Tissue specificityi
Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple midbrain structures.
Gene expression databases
Bgeei | ENSG00000114279, Expressed in heart and 166 other tissues |
ExpressionAtlasi | P61328, baseline and differential |
Genevisiblei | P61328, HS |
Organism-specific databases
HPAi | ENSG00000114279, Group enriched (adrenal gland, brain, heart muscle) |
Interactioni
Subunit structurei
Interacts with the C-terminal region of SCN9A.
By similarityBinary interactionsi
Hide detailsP61328
Isoform 2 [P61328-2]
GO - Molecular functioni
- growth factor activity Source: ProtInc
- ion channel binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108548, 70 interactors |
DIPi | DIP-59850N |
IntActi | P61328, 21 interactors |
STRINGi | 9606.ENSP00000413496 |
Miscellaneous databases
RNActi | P61328, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P61328 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P61328 |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 11 – 38 | Bipartite nuclear localization signalSequence analysisAdd BLAST | 28 |
Sequence similaritiesi
Belongs to the heparin-binding growth factors family.Curated
Phylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000155929 |
HOGENOMi | CLU_081609_2_0_1 |
InParanoidi | P61328 |
OMAi | FFLQMHP |
OrthoDBi | 1192273at2759 |
PhylomeDBi | P61328 |
TreeFami | TF330751 |
Family and domain databases
CDDi | cd00058, FGF, 1 hit |
DisProti | DP02160 [P61328-2] |
InterProi | View protein in InterPro IPR028254, FGF12 IPR002209, Fibroblast_GF_fam IPR008996, IL1/FGF |
PANTHERi | PTHR11486, PTHR11486, 1 hit PTHR11486:SF17, PTHR11486:SF17, 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 basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P61328-1) [UniParc]FASTAAdd to basket
Also known as: FGF-12A
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
MAAAIASSLI RQKRQARESN SDRVSASKRR SSPSKDGRSL CERHVLGVFS
60 70 80 90 100
KVRFCSGRKR PVRRRPEPQL KGIVTRLFSQ QGYFLQMHPD GTIDGTKDEN
110 120 130 140 150
SDYTLFNLIP VGLRVVAIQG VKASLYVAMN GEGYLYSSDV FTPECKFKES
160 170 180 190 200
VFENYYVIYS STLYRQQESG RAWFLGLNKE GQIMKGNRVK KTKPSSHFVP
210 220 230 240
KPIEVCMYRE PSLHEIGEKQ GRSRKSSGTP TMNGGKVVNQ DST
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JEN8 | C9JEN8_HUMAN | Fibroblast growth factor | FGF12 | 144 | Annotation score: | ||
C9JIN3 | C9JIN3_HUMAN | Fibroblast growth factor | FGF12 | 107 | Annotation score: | ||
C9JUK8 | C9JUK8_HUMAN | Fibroblast growth factor | FGF12 | 141 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 190 | K → E in AAB18786 (PubMed:10049777).Curated | 1 | |
Sequence conflicti | 211 | P → Q in AAH22524 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 229 – 243 | TPTMN…NQDST → HHHDGGKL in AAB18786 (PubMed:10049777).CuratedAdd BLAST | 15 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076507 | 114 | R → H in EIEE47; increased function in positive regulation of SCN8A voltage-dependent sodium channel activity. 1 PublicationCorresponds to variant dbSNP:rs886039903EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010222 | 1 – 66 | MAAAI…VRRRP → MESK in isoform 2. 3 PublicationsAdd BLAST | 66 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66197 mRNA Translation: AAB18913.1 U76381 mRNA Translation: AAB18786.3 AK125307 mRNA Translation: BAG54181.1 AK313671 mRNA Translation: BAG36423.1 AK312513 mRNA Translation: BAG35414.1 CH471052 Genomic DNA Translation: EAW78084.1 BC022524 mRNA Translation: AAH22524.1 |
CCDSi | CCDS3301.1 [P61328-1] CCDS46983.1 [P61328-2] |
PIRi | JG0184 |
RefSeqi | NP_004104.3, NM_004113.5 [P61328-2] NP_066360.1, NM_021032.4 [P61328-1] |
Genome annotation databases
Ensembli | ENST00000445105; ENSP00000393686; ENSG00000114279 [P61328-2] ENST00000450716; ENSP00000397635; ENSG00000114279 [P61328-2] ENST00000454309; ENSP00000413496; ENSG00000114279 [P61328-1] |
GeneIDi | 2257 |
KEGGi | hsa:2257 |
UCSCi | uc003fsx.4, human [P61328-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U66197 mRNA Translation: AAB18913.1 U76381 mRNA Translation: AAB18786.3 AK125307 mRNA Translation: BAG54181.1 AK313671 mRNA Translation: BAG36423.1 AK312513 mRNA Translation: BAG35414.1 CH471052 Genomic DNA Translation: EAW78084.1 BC022524 mRNA Translation: AAH22524.1 |
CCDSi | CCDS3301.1 [P61328-1] CCDS46983.1 [P61328-2] |
PIRi | JG0184 |
RefSeqi | NP_004104.3, NM_004113.5 [P61328-2] NP_066360.1, NM_021032.4 [P61328-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1Q1U | X-ray | 1.70 | A | 67-206 | [»] | |
4JQ0 | X-ray | 3.84 | A | 1-243 | [»] | |
SMRi | P61328 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108548, 70 interactors |
DIPi | DIP-59850N |
IntActi | P61328, 21 interactors |
STRINGi | 9606.ENSP00000413496 |
PTM databases
iPTMneti | P61328 |
PhosphoSitePlusi | P61328 |
Polymorphism and mutation databases
BioMutai | FGF12 |
DMDMi | 47117683 |
Proteomic databases
MassIVEi | P61328 |
PaxDbi | P61328 |
PeptideAtlasi | P61328 |
PRIDEi | P61328 |
ProteomicsDBi | 57295 [P61328-1] 57296 [P61328-2] |
Protocols and materials databases
ABCDi | P61328, 1 sequenced antibody |
Antibodypediai | 33876, 226 antibodies |
DNASUi | 2257 |
Genome annotation databases
Ensembli | ENST00000445105; ENSP00000393686; ENSG00000114279 [P61328-2] ENST00000450716; ENSP00000397635; ENSG00000114279 [P61328-2] ENST00000454309; ENSP00000413496; ENSG00000114279 [P61328-1] |
GeneIDi | 2257 |
KEGGi | hsa:2257 |
UCSCi | uc003fsx.4, human [P61328-1] |
Organism-specific databases
CTDi | 2257 |
DisGeNETi | 2257 |
EuPathDBi | HostDB:ENSG00000114279.13 |
GeneCardsi | FGF12 |
GeneReviewsi | FGF12 |
HGNCi | HGNC:3668, FGF12 |
HPAi | ENSG00000114279, Group enriched (adrenal gland, brain, heart muscle) |
MalaCardsi | FGF12 |
MIMi | 601513, gene 617166, phenotype |
neXtProti | NX_P61328 |
OpenTargetsi | ENSG00000114279 |
Orphaneti | 442835, Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA28108 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3885, Eukaryota |
GeneTreei | ENSGT00940000155929 |
HOGENOMi | CLU_081609_2_0_1 |
InParanoidi | P61328 |
OMAi | FFLQMHP |
OrthoDBi | 1192273at2759 |
PhylomeDBi | P61328 |
TreeFami | TF330751 |
Enzyme and pathway databases
PathwayCommonsi | P61328 |
Reactomei | R-HSA-5576892, Phase 0 - rapid depolarisation |
SIGNORi | P61328 |
Miscellaneous databases
BioGRID-ORCSi | 2257, 4 hits in 845 CRISPR screens |
ChiTaRSi | FGF12, human |
EvolutionaryTracei | P61328 |
GeneWikii | FGF12 |
GenomeRNAii | 2257 |
Pharosi | P61328, Tbio |
PROi | PR:P61328 |
RNActi | P61328, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114279, Expressed in heart and 166 other tissues |
ExpressionAtlasi | P61328, baseline and differential |
Genevisiblei | P61328, HS |
Family and domain databases
CDDi | cd00058, FGF, 1 hit |
DisProti | DP02160 [P61328-2] |
InterProi | View protein in InterPro IPR028254, FGF12 IPR002209, Fibroblast_GF_fam IPR008996, IL1/FGF |
PANTHERi | PTHR11486, PTHR11486, 1 hit PTHR11486:SF17, PTHR11486:SF17, 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FGF12_HUMAN | |
Accessioni | P61328Primary (citable) accession number: P61328 Secondary accession number(s): B2R6B7 Q93001 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 10, 2004 |
Last sequence update: | May 10, 2004 | |
Last modified: | December 2, 2020 | |
This is version 158 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
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations