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UniProtKB - P55075 (FGF8_HUMAN)

Entry version 174 (05 Jun 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Fibroblast growth factor 8

Gene

FGF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Growth factor, Mitogen
Biological processDifferentiation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-109704 PI3K Cascade
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1839122 Signaling by activated point mutants of FGFR1
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-190322 FGFR4 ligand binding and activation
R-HSA-190371 FGFR3b ligand binding and activation
R-HSA-190372 FGFR3c ligand binding and activation
R-HSA-190373 FGFR1c ligand binding and activation
R-HSA-190375 FGFR2c ligand binding and activation
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1
R-HSA-5654221 Phospholipase C-mediated cascade, FGFR2
R-HSA-5654227 Phospholipase C-mediated cascade, FGFR3
R-HSA-5654228 Phospholipase C-mediated cascade, FGFR4
R-HSA-5654687 Downstream signaling of activated FGFR1
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654733 Negative regulation of FGFR4 signaling
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P55075

SIGNOR Signaling Network Open Resource

More...SIGNORi		P55075

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fibroblast growth factor 8
Short name:
FGF-8
Alternative name(s):
Androgen-induced growth factor
Short name:
AIGF
Heparin-binding growth factor 8
Short name:
HBGF-8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FGF8
Synonyms:AIGF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3686 FGF8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600483 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P55075

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)2 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in FGF8 as well as in other HH-associated genes including FGFR1 (PubMed:23643382).1 Publication
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05796214H → N in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant dbSNP:rs137852659EnsemblClinVar.1
Natural variantiVAR_05796326P → L in HH6; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs137852660EnsemblClinVar.1
Natural variantiVAR_05796440F → L in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs137852661EnsemblClinVar.1
Natural variantiVAR_05796589K → E in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs137852662Ensembl.1
Natural variantiVAR_057966116R → G in HH6; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs137852663Ensembl.1
Natural variantiVAR_057967218T → M in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant dbSNP:rs137852664Ensembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		2253

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FGF8

MalaCards human disease database

More...MalaCardsi		FGF8
MIMi612702 phenotype

Open Targets

More...OpenTargetsi		ENSG00000107831

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		93925 Alobar holoprosencephaly
478 Kallmann syndrome
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
432 Normosmic congenital hypogonadotropic hypogonadism
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28125

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FGF8

Domain mapping of disease mutations (DMDM)

More...DMDMi		1706791

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000897023 – 233Fibroblast growth factor 8Add BLAST211

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi155N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P55075

PeptideAtlas

More...PeptideAtlasi		P55075

PRoteomics IDEntifications database

More...PRIDEi		P55075

ProteomicsDB human proteome resource

More...ProteomicsDBi		56778
56779 [P55075-2]
56780 [P55075-3]
56781 [P55075-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P55075

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P55075

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In adults expression is restricted to the gonads.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107831 Expressed in 49 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P55075 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P55075 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Homodimer.

Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.

3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108544, 125 interactors

Database of interacting proteins

More...DIPi		DIP-59630N

Protein interaction database and analysis system

More...IntActi		P55075, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000321797

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1233
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P55075

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P55075

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the heparin-binding growth factors family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3885 Eukaryota
ENOG4111IPH LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159518

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000115986

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P55075

KEGG Orthology (KO)

More...KOi		K04358

Identification of Orthologs from Complete Genome Data

More...OMAi		LPKGHHT

Database of Orthologous Groups

More...OrthoDBi		388324at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P55075

TreeFam database of animal gene trees

More...TreeFami		TF331233

Family and domain databases

Conserved Domains Database

More...CDDi		cd00058 FGF, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028249 FGF8
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF

The PANTHER Classification System

More...PANTHERi		PTHR11486 PTHR11486, 1 hit
PTHR11486:SF3 PTHR11486:SF3, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00167 FGF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00442 FGF, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50353 SSF50353, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00247 HBGF_FGF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform FGF-8E (identifier: P55075-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS 
        60         70         80         90        100
QQHVREQSLV TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP 
       110        120        130        140        150
FAKLIVETDT FGSRVRVRGA ETGLYICMNK KGKLIAKSNG KGKDCVFTEI 
       160        170        180        190        200
VLENNYTALQ NAKYEGWYMA FTRKGRPRKG SKTRQHQREV HFMKRLPRGH 
       210        220        230 
HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR
Length:233
Mass (Da):26,525
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4C1EAF932A3A211D
GO
Isoform FGF-8A (identifier: P55075-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-52: Missing.

Show »
Length:204
Mass (Da):23,522
Checksum:i9A4CAB7686A2B190
GO
Isoform FGF-8B (identifier: P55075-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-51: EGPGRGPALGRELASLFRAGREPQGVSQ → VTVQSSPNFT

Show »
Length:215
Mass (Da):24,711
Checksum:iA39424271EF7CBFF
GO
Isoform FGF-8F (identifier: P55075-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-52: Q → QVTVQSSPNFTQ

Show »
Length:244
Mass (Da):27,715
Checksum:i73DA5874CA918E6A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X1S5A0A087X1S5_HUMAN
Fibroblast growth factor
FGF8 hCG_25633
140Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
R4GMQ3R4GMQ3_HUMAN
Fibroblast growth factor 8
FGF8
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05796214H → N in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant dbSNP:rs137852659EnsemblClinVar.1
Natural variantiVAR_05796326P → L in HH6; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs137852660EnsemblClinVar.1
Natural variantiVAR_05796440F → L in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs137852661EnsemblClinVar.1
Natural variantiVAR_05796589K → E in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; some patients also carry mutations in FGFR1. 2 PublicationsCorresponds to variant dbSNP:rs137852662Ensembl.1
Natural variantiVAR_057966116R → G in HH6; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs137852663Ensembl.1
Natural variantiVAR_057967218T → M in HH6; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant dbSNP:rs137852664Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00152524 – 52Missing in isoform FGF-8A. 3 PublicationsAdd BLAST29
Alternative sequenceiVSP_00152424 – 51EGPGR…QGVSQ → VTVQSSPNFT in isoform FGF-8B. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_00152652Q → QVTVQSSPNFTQ in isoform FGF-8F. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
S78466
, S78462, S78463, S78464, S78465 Genomic DNA Translation: AAB34255.1
D38752 Genomic DNA Translation: BAA22527.1
U46213 mRNA Translation: AAB40955.1
U46212 mRNA Translation: AAB40954.1
U46211 mRNA Translation: AAB40953.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50784.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50785.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50782.1
U36223 mRNA Translation: AAB17893.1
U36228
, U36225, U36226, U36227 Genomic DNA Translation: AAB17894.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50783.1
U56978 mRNA Translation: AAB03787.1
AB014615 mRNA Translation: BAA28605.1
AF520763 Genomic DNA Translation: AAM55238.1
CH471066 Genomic DNA Translation: EAW49746.1
BC128235 mRNA Translation: AAI28236.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7515.1 [P55075-3]
CCDS7516.1 [P55075-4]
CCDS7517.1 [P55075-1]
CCDS7518.1 [P55075-2]

NCBI Reference Sequences

More...RefSeqi		NP_006110.1, NM_006119.4 [P55075-3]
NP_149353.1, NM_033163.3 [P55075-4]
NP_149354.1, NM_033164.3 [P55075-1]
NP_149355.1, NM_033165.3 [P55075-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000320185; ENSP00000321797; ENSG00000107831 [P55075-4]
ENST00000344255; ENSP00000340039; ENSG00000107831 [P55075-1]
ENST00000346714; ENSP00000344306; ENSG00000107831 [P55075-2]
ENST00000347978; ENSP00000321945; ENSG00000107831 [P55075-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2253

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2253

UCSC genome browser

More...UCSCi		uc001ktp.3 human [P55075-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S78466
, S78462, S78463, S78464, S78465 Genomic DNA Translation: AAB34255.1
D38752 Genomic DNA Translation: BAA22527.1
U46213 mRNA Translation: AAB40955.1
U46212 mRNA Translation: AAB40954.1
U46211 mRNA Translation: AAB40953.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50784.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50785.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50782.1
U36223 mRNA Translation: AAB17893.1
U36228
, U36225, U36226, U36227 Genomic DNA Translation: AAB17894.1
U47011, U47009, U47010 Genomic DNA Translation: AAC50783.1
U56978 mRNA Translation: AAB03787.1
AB014615 mRNA Translation: BAA28605.1
AF520763 Genomic DNA Translation: AAM55238.1
CH471066 Genomic DNA Translation: EAW49746.1
BC128235 mRNA Translation: AAI28236.1
CCDSiCCDS7515.1 [P55075-3]
CCDS7516.1 [P55075-4]
CCDS7517.1 [P55075-1]
CCDS7518.1 [P55075-2]
RefSeqiNP_006110.1, NM_006119.4 [P55075-3]
NP_149353.1, NM_033163.3 [P55075-4]
NP_149354.1, NM_033164.3 [P55075-1]
NP_149355.1, NM_033165.3 [P55075-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FDBX-ray2.28M/N52-204[»]
SMRiP55075
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108544, 125 interactors
DIPiDIP-59630N
IntActiP55075, 3 interactors
STRINGi9606.ENSP00000321797

PTM databases

iPTMnetiP55075
PhosphoSitePlusiP55075

Polymorphism and mutation databases

BioMutaiFGF8
DMDMi1706791

Proteomic databases

PaxDbiP55075
PeptideAtlasiP55075
PRIDEiP55075
ProteomicsDBi56778
56779 [P55075-2]
56780 [P55075-3]
56781 [P55075-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320185; ENSP00000321797; ENSG00000107831 [P55075-4]
ENST00000344255; ENSP00000340039; ENSG00000107831 [P55075-1]
ENST00000346714; ENSP00000344306; ENSG00000107831 [P55075-2]
ENST00000347978; ENSP00000321945; ENSG00000107831 [P55075-3]
GeneIDi2253
KEGGihsa:2253
UCSCiuc001ktp.3 human [P55075-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2253
DisGeNETi2253

GeneCards: human genes, protein and diseases

More...GeneCardsi		FGF8
GeneReviewsiFGF8
HGNCiHGNC:3686 FGF8
MalaCardsiFGF8
MIMi600483 gene
612702 phenotype
neXtProtiNX_P55075
OpenTargetsiENSG00000107831
Orphaneti93925 Alobar holoprosencephaly
478 Kallmann syndrome
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
432 Normosmic congenital hypogonadotropic hypogonadism
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA28125

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3885 Eukaryota
ENOG4111IPH LUCA
GeneTreeiENSGT00940000159518
HOGENOMiHOG000115986
InParanoidiP55075
KOiK04358
OMAiLPKGHHT
OrthoDBi388324at2759
PhylomeDBiP55075
TreeFamiTF331233

Enzyme and pathway databases

ReactomeiR-HSA-109704 PI3K Cascade
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1839122 Signaling by activated point mutants of FGFR1
R-HSA-1839130 Signaling by activated point mutants of FGFR3
R-HSA-190322 FGFR4 ligand binding and activation
R-HSA-190371 FGFR3b ligand binding and activation
R-HSA-190372 FGFR3c ligand binding and activation
R-HSA-190373 FGFR1c ligand binding and activation
R-HSA-190375 FGFR2c ligand binding and activation
R-HSA-2033514 FGFR3 mutant receptor activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654219 Phospholipase C-mediated cascade: FGFR1
R-HSA-5654221 Phospholipase C-mediated cascade, FGFR2
R-HSA-5654227 Phospholipase C-mediated cascade, FGFR3
R-HSA-5654228 Phospholipase C-mediated cascade, FGFR4
R-HSA-5654687 Downstream signaling of activated FGFR1
R-HSA-5654688 SHC-mediated cascade:FGFR1
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-5654693 FRS-mediated FGFR1 signaling
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654704 SHC-mediated cascade:FGFR3
R-HSA-5654706 FRS-mediated FGFR3 signaling
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654712 FRS-mediated FGFR4 signaling
R-HSA-5654719 SHC-mediated cascade:FGFR4
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-5654726 Negative regulation of FGFR1 signaling
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654732 Negative regulation of FGFR3 signaling
R-HSA-5654733 Negative regulation of FGFR4 signaling
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
SignaLinkiP55075
SIGNORiP55075

Miscellaneous databases

EvolutionaryTraceiP55075

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FGF8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2253

Protein Ontology

More...PROi		PR:P55075

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107831 Expressed in 49 organ(s), highest expression level in frontal cortex
ExpressionAtlasiP55075 baseline and differential
GenevisibleiP55075 HS

Family and domain databases

CDDicd00058 FGF, 1 hit
InterProiView protein in InterPro
IPR028249 FGF8
IPR002209 Fibroblast_GF_fam
IPR008996 IL1/FGF
PANTHERiPTHR11486 PTHR11486, 1 hit
PTHR11486:SF3 PTHR11486:SF3, 1 hit
PfamiView protein in Pfam
PF00167 FGF, 1 hit
SMARTiView protein in SMART
SM00442 FGF, 1 hit
SUPFAMiSSF50353 SSF50353, 1 hit
PROSITEiView protein in PROSITE
PS00247 HBGF_FGF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFGF8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P55075
Secondary accession number(s): A1A514, Q14915, Q15766
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: June 5, 2019
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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