Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9C004 (SPY4_HUMAN)

Entry version 155 (11 Dec 2019)
Sequence version 2 (11 Jul 2001)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Protein sprouty homolog 4

Gene

SPRY4

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

Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1.1 Publication

<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 - 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

Enzyme and pathway databases

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

More...SignaLinki		Q9C004

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9C004

<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:
Protein sprouty homolog 4
Short name:
Spry-4
<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:SPRY4
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000187678.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:15533 SPRY4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607984 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C004

<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

Cell membrane, Cell projection, Cytoplasm, Membrane

<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 17 with or without anosmia (HH17)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in SPRY4 also have a heterozygous mutation in another HH-associated gene including DUSP6 and 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_06992977T → M in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs774674946Ensembl.1
Natural variantiVAR_06993082D → N in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs568363732Ensembl.1
Natural variantiVAR_069931154K → R in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs78310959Ensembl.1
Natural variantiVAR_069932186C → Y in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs148983803Ensembl.1
Natural variantiVAR_069933218S → Y in HH17; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including DUSP6 and FGFR1. 1 PublicationCorresponds to variant dbSNP:rs139512218Ensembl.1
Natural variantiVAR_069934258V → M in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs200364529Ensembl.1
Natural variantiVAR_069935281V → I in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs142439525Ensembl.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		81848

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

More...GeneReviewsi		SPRY4

MalaCards human disease database

More...MalaCardsi		SPRY4
MIMi615266 phenotype

Open Targets

More...OpenTargetsi		ENSG00000187678

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

More...Orphaneti		478 Kallmann syndrome
363494 Non-seminomatous germ cell tumor of testis
432 Normosmic congenital hypogonadotropic hypogonadism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37975

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C004 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPRY4

Domain mapping of disease mutations (DMDM)

More...DMDMi		14916719

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000769051 – 299Protein sprouty homolog 4Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei125PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C004

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9C004

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C004

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9C004

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

More...PaxDbi		Q9C004

PeptideAtlas

More...PeptideAtlasi		Q9C004

PRoteomics IDEntifications database

More...PRIDEi		Q9C004

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79936 [Q9C004-1]
79937 [Q9C004-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C004

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

More...PhosphoSitePlusi		Q9C004

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9C004

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000187678 Expressed in 162 organ(s), highest expression level in left coronary artery

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C004 baseline and differential

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB008086
HPA072661

<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

Interacts with the C-terminus of TESK1.

Interacts with RAF1.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123599, 17 interactors

Protein interaction database and analysis system

More...IntActi		Q9C004, 24 interactors

Molecular INTeraction database

More...MINTi		Q9C004

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000344967

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9C004 protein

<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

3D structure databases

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

More...SMRi		Q9C004

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9C004

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini166 – 273SPRPROSITE-ProRule annotationAdd BLAST108

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi97 – 107Poly-SerAdd BLAST11
Compositional biasi159 – 283Cys-richAdd BLAST125

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles.

<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 sprouty family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IH70 Eukaryota
ENOG410ZPNT LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183055

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233079

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C004

KEGG Orthology (KO)

More...KOi		K17385

Database of Orthologous Groups

More...OrthoDBi		1247924at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C004

TreeFam database of animal gene trees

More...TreeFami		TF325070

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007875 Sprouty
IPR030790 SPRY4

The PANTHER Classification System

More...PANTHERi		PTHR12365:SF6 PTHR12365:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05210 Sprouty, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51227 SPR, 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 (2+)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.

This entry describes 2 <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

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

Isoform A (identifier: Q9C004-1) [UniParc]FASTAAdd to basket
Also known as: Sprouty-4A

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
MEPPIPQSAP LTPNSVMVQP LLDSRMSHSR LQHPLTILPI DQVKTSHVEN 
        60         70         80         90        100
DYIDNPSLAL TTGPKRTRGG APELAPTPAR CDQDVTHHWI SFSGRPSSVS 
       110        120        130        140        150
SSSSTSSDQR LLDHMAPPPV ADQASPRAVR IQPKVVHCQP LDLKGPAVPP 
       160        170        180        190        200
ELDKHFLLCE ACGKCKCKEC ASPRTLPSCW VCNQECLCSA QTLVNYGTCM 
       210        220        230        240        250
CLVQGIFYHC TNEDDEGSCA DHPCSCSRSN CCARWSFMGA LSVVLPCLLC 
       260        270        280        290 
YLPATGCVKL AQRGYDRLRR PGCRCKHTNS VICKAASGDA KTSRPDKPF
Length:299
Mass (Da):32,541
Last modified:July 11, 2001 - v2
<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:i105F6F1BE9F7B6C3
GO
Isoform C (identifier: Q9C004-2) [UniParc]FASTAAdd to basket
Also known as: Sprouty-4C

The sequence of this isoform differs from the canonical sequence as follows:
     97-106: SSVSSSSSTS → CSATCLPPAA
     107-299: Missing.

Show »
Length:106
Mass (Da):11,482
Checksum:i6158571E3477A598
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
A0A0C4DFS6A0A0C4DFS6_HUMAN
Protein sprouty homolog 4
SPRY4
322Annotation 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>
D6RB56D6RB56_HUMAN
Protein sprouty homolog 4
SPRY4
50Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK00652 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti102S → N in AAI25097 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06992977T → M in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs774674946Ensembl.1
Natural variantiVAR_06993082D → N in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs568363732Ensembl.1
Natural variantiVAR_069931154K → R in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs78310959Ensembl.1
Natural variantiVAR_069932186C → Y in HH17; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs148983803Ensembl.1
Natural variantiVAR_069933218S → Y in HH17; rare variant associated with susceptibility to disease; some patients have a second mutation in another HH-associated gene including DUSP6 and FGFR1. 1 PublicationCorresponds to variant dbSNP:rs139512218Ensembl.1
Natural variantiVAR_069934258V → M in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs200364529Ensembl.1
Natural variantiVAR_069935281V → I in HH17; without anosmia. 1 PublicationCorresponds to variant dbSNP:rs142439525Ensembl.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_00621997 – 106SSVSSSSSTS → CSATCLPPAA in isoform C. 1 Publication10
Alternative sequenceiVSP_006220107 – 299Missing in isoform C. 1 PublicationAdd BLAST193

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
AF227516 mRNA Translation: AAK00652.1 Different initiation.
AF227517 mRNA Translation: AAK00653.1
AY538661 Genomic DNA Translation: AAS46253.1
AK096464 mRNA Translation: BAC04798.1
AC091825 Genomic DNA No translation available.
BC125095 mRNA Translation: AAI25096.1
BC125096 mRNA Translation: AAI25097.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47296.1 [Q9C004-1]

NCBI Reference Sequences

More...RefSeqi		NP_001120968.1, NM_001127496.1 [Q9C004-1]
NP_001280218.1, NM_001293289.1 [Q9C004-1]
NP_001280219.1, NM_001293290.1 [Q9C004-1]
NP_112226.2, NM_030964.3
XP_011535987.1, XM_011537685.2
XP_016865399.1, XM_017009910.1 [Q9C004-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000434127; ENSP00000399468; ENSG00000187678 [Q9C004-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81848

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81848

UCSC genome browser

More...UCSCi		uc003lml.3 human [Q9C004-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF227516 mRNA Translation: AAK00652.1 Different initiation.
AF227517 mRNA Translation: AAK00653.1
AY538661 Genomic DNA Translation: AAS46253.1
AK096464 mRNA Translation: BAC04798.1
AC091825 Genomic DNA No translation available.
BC125095 mRNA Translation: AAI25096.1
BC125096 mRNA Translation: AAI25097.1
CCDSiCCDS47296.1 [Q9C004-1]
RefSeqiNP_001120968.1, NM_001127496.1 [Q9C004-1]
NP_001280218.1, NM_001293289.1 [Q9C004-1]
NP_001280219.1, NM_001293290.1 [Q9C004-1]
NP_112226.2, NM_030964.3
XP_011535987.1, XM_011537685.2
XP_016865399.1, XM_017009910.1 [Q9C004-1]

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
3BUNX-ray2.00A46-58[»]
SMRiQ9C004
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123599, 17 interactors
IntActiQ9C004, 24 interactors
MINTiQ9C004
STRINGi9606.ENSP00000344967

PTM databases

iPTMnetiQ9C004
PhosphoSitePlusiQ9C004
SwissPalmiQ9C004

Polymorphism and mutation databases

BioMutaiSPRY4
DMDMi14916719

Proteomic databases

EPDiQ9C004
jPOSTiQ9C004
MassIVEiQ9C004
MaxQBiQ9C004
PaxDbiQ9C004
PeptideAtlasiQ9C004
PRIDEiQ9C004
ProteomicsDBi79936 [Q9C004-1]
79937 [Q9C004-2]

Genome annotation databases

EnsembliENST00000434127; ENSP00000399468; ENSG00000187678 [Q9C004-1]
GeneIDi81848
KEGGihsa:81848
UCSCiuc003lml.3 human [Q9C004-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81848
DisGeNETi81848
EuPathDBiHostDB:ENSG00000187678.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPRY4
GeneReviewsiSPRY4
HGNCiHGNC:15533 SPRY4
HPAiCAB008086
HPA072661
MalaCardsiSPRY4
MIMi607984 gene
615266 phenotype
neXtProtiNX_Q9C004
OpenTargetsiENSG00000187678
Orphaneti478 Kallmann syndrome
363494 Non-seminomatous germ cell tumor of testis
432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA37975

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IH70 Eukaryota
ENOG410ZPNT LUCA
GeneTreeiENSGT00950000183055
HOGENOMiHOG000233079
InParanoidiQ9C004
KOiK17385
OrthoDBi1247924at2759
PhylomeDBiQ9C004
TreeFamiTF325070

Enzyme and pathway databases

SignaLinkiQ9C004
SIGNORiQ9C004

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SPRY4 human
EvolutionaryTraceiQ9C004

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SPRY4

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

More...GenomeRNAii		81848
PharosiQ9C004 Tbio

Protein Ontology

More...PROi		PR:Q9C004
RNActiQ9C004 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000187678 Expressed in 162 organ(s), highest expression level in left coronary artery
ExpressionAtlasiQ9C004 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR007875 Sprouty
IPR030790 SPRY4
PANTHERiPTHR12365:SF6 PTHR12365:SF6, 1 hit
PfamiView protein in Pfam
PF05210 Sprouty, 1 hit
PROSITEiView protein in PROSITE
PS51227 SPR, 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 nameiSPY4_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: Q9C004
Secondary accession number(s): A4FVB2
, A4FVB3, Q6QIX2, Q9C003
<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: July 11, 2001
Last sequence update: July 11, 2001
Last modified: December 11, 2019
This is version 155 of the entry and version 2 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, 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 chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again