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Protein

Neuroendocrine secretory protein 55

Gene

GNAS

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 transcript 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

Miscellaneous

This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.Curated
The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.

<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

  • female pregnancy Source: UniProtKB
  • negative regulation of multicellular organism growth Source: UniProtKB
  • positive regulation of cold-induced thermogenesis Source: YuBioLab
  • protein secretion Source: UniProtKB
  • response to parathyroid hormone Source: UniProtKB

<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:
Neuroendocrine secretory protein 55
Short name:
NESP55
Cleaved into the following 2 chains:
<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:GNASImported
Synonyms:GNAS1Imported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000087460.23

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4392 GNAS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
139320 gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95467

<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; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cytoplasmic vesicle, 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

ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
See also OMIM:219080
Pseudohypoparathyroidism 1B (PHP1B)7 Publications
The disease is caused by mutations affecting the gene represented in this entry. Most affected individuals have defects in methylation of the gene. In some cases microdeletions involving the STX16 appear to cause loss of methylation at exon A/B of GNAS, resulting in PHP1B. Paternal uniparental isodisomy have also been observed.
Disease descriptionA disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.
See also OMIM:603233
GNAS hyperfunction (GNASHYP)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThis condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and mental retardation. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms.
See also OMIM:139320

Keywords - Diseasei

Cushing syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
2778

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

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GeneReviewsi
GNAS

MalaCards human disease database

More...
MalaCardsi
GNAS
MIMi139320 gene+phenotype
219080 phenotype
603233 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000087460

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA175

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNAS

<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 – 46By similarityAdd BLAST46
<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_000025396747 – 245Neuroendocrine secretory protein 55Add BLAST199
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_0000253968163 – 166LHAL tetrapeptide1 PublicationSequence analysis4
PeptideiPRO_0000253969238 – 245GPIPIRRH peptide1 PublicationSequence analysis8

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Binds keratan sulfate chains.By similarity
May be proteolytically processed to give rise to a number of active peptides.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Proteoglycan

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95467

PeptideAtlas

More...
PeptideAtlasi
O95467

PRoteomics IDEntifications database

More...
PRIDEi
O95467

ProteomicsDB human proteome resource

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ProteomicsDBi
50901

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95467

<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
ENSG00000087460 Expressed in 252 organ(s), highest expression level in telencephalon

CleanEx database of gene expression profiles

More...
CleanExi
HS_GNAS

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95467 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95467 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB010337
HPA018122

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109040, 100 interactors

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95467

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

More...
SMRi
O95467

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

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 biasi78 – 142Glu-richSequence analysisAdd BLAST65

<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 NESP55 family.Sequence analysis

Keywords - Domaini

Signal

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156300

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000276539

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG081561

KEGG Orthology (KO)

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KOi
K04632

Database of Orthologous Groups

More...
OrthoDBi
754573at2759

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009434 NESP55

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06390 NESP55, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)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 8 <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 8 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform Nesp554 Publications (identifier: O95467-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDRRSRAQQW RRARHNYNDL CPPIGRRAAT ALLWLSCSIA LLRALATSNA
60 70 80 90 100
RAQQRAAAQQ RRSFLNAHHR SGAQVFPESP ESESDHEHEE ADLELSLPEC
110 120 130 140 150
LEYEEEFDYE TESETESEIE SETDFETEPE TAPTTEPETE PEDDRGPVVP
160 170 180 190 200
KHSTFGQSLT QRLHALKLRS PDASPSRAPP STQEPQSPRE GEELKPEDKD
210 220 230 240
PRDPEESKEP KEEKQRRRCK PKKPTRRDAS PESPSKKGPI PIRRH
Note: Shares no sequence similarity with other isoforms due to a novel first exon containing the entire reading frame spliced to shared exon 2 so that exons 2-13 make up the 3'-UTR.
Length:245
Mass (Da):28,029
Last modified:May 1, 1999 - 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:i4F02B8B1115089E2
GO
Isoform XLas-1 (identifier: Q5JWF2-1) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Gene prediction confirmed by EST data.
Length:1,037
Mass (Da):111,025
GO
Isoform XLas-2 (identifier: Q5JWF2-2) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Gene prediction confirmed by EST data.
Length:1,023
Mass (Da):109,626
GO
Isoform XLas-3 (identifier: Q5JWF2-3) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q5JWF2.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:752
Mass (Da):77,643
GO
Isoform Gnas-1Curated (identifier: P63092-1) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Alpha-S2Curated, GNASlCurated, Alpha-S-longCurated
The sequence of this isoform can be found in the external entry P63092.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:394
Mass (Da):45,665
GO
Isoform Gnas-2Curated (identifier: P63092-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: Alpha-S1Curated, GNASsCurated, Alpha-S-shortCurated
The sequence of this isoform can be found in the external entry P63092.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:380
Mass (Da):44,266
GO
Isoform 3 (identifier: P63092-3) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P63092.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: No experimental confirmation available.
Length:379
Mass (Da):44,179
GO
Isoform 4 (identifier: P63092-4) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P63092.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Gene prediction based on EST data.
Length:395
Mass (Da):45,752
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 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P63092GNAS2_HUMAN
Guanine nucleotide-binding protein ...
GNAS GNAS1, GSP
394Annotation 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>
Q5JWF2GNAS1_HUMAN
Guanine nucleotide-binding protein ...
GNAS GNAS1
1,037Annotation 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>
P84996ALEX_HUMAN
Protein ALEX
GNAS GNAS1
626Annotation 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>
Q5JWD1Q5JWD1_HUMAN
Guanine nucleotide-binding protein ...
GNAS
87Annotation 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>
Q5JWE9Q5JWE9_HUMAN
Guanine nucleotide-binding protein ...
GNAS
193Annotation 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>
S4R3E3S4R3E3_HUMAN
Guanine nucleotide-binding protein ...
GNAS
160Annotation 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>
H0Y7F4H0Y7F4_HUMAN
Guanine nucleotide-binding protein ...
GNAS
199Annotation 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>
A0A0A0MR13A0A0A0MR13_HUMAN
Guanine nucleotide-binding protein ...
GNAS
158Annotation 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>
S4R3V9S4R3V9_HUMAN
Guanine nucleotide-binding protein ...
GNAS
120Annotation 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>
A2A2R6A2A2R6_HUMAN
Guanine nucleotide-binding protein ...
GNAS
61Annotation 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>
There are more potential isoformsShow all

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 conflicti26R → C in AAD11804 (Ref. 4) Curated1
Sequence conflicti41L → D in AAD11804 (Ref. 4) Curated1
Sequence conflicti72G → GR in AAD11804 (Ref. 4) Curated1
Sequence conflicti133P → PETAP (Ref. 4) Curated1
Sequence conflicti171P → A in AAD11804 (Ref. 4) Curated1
Sequence conflicti211 – 219KEEKQRRRC → REENSSDSS in AAD11804 (Ref. 4) Curated9
Sequence conflicti230S → F in AAD11804 (Ref. 4) Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ009849 Genomic DNA Translation: CAA08889.1
AJ251760 Genomic DNA Translation: CAB83214.1
AF105253 mRNA Translation: AAF63226.1
AF107846 Genomic DNA Translation: AAD11804.1
AK314549 mRNA Translation: BAG37135.1
CH471077 Genomic DNA Translation: EAW75466.1
CH471077 Genomic DNA Translation: EAW75457.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13471.1 [O95467-1]

NCBI Reference Sequences

More...
RefSeqi
NP_000507.1, NM_000516.5
NP_001070956.1, NM_001077488.3
NP_001070957.1, NM_001077489.3
NP_001296790.1, NM_001309861.1
NP_057676.1, NM_016592.3 [O95467-1]
NP_536351.1, NM_080426.3
XP_016883310.1, XM_017027821.1 [O95467-1]
XP_016883311.1, XM_017027822.1 [O95467-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.125898

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000313949; ENSP00000323571; ENSG00000087460 [O95467-1]
ENST00000371075; ENSP00000360115; ENSG00000087460 [O95467-1]
ENST00000371098; ENSP00000360139; ENSG00000087460 [O95467-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2778

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2778

UCSC genome browser

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UCSCi
uc002xzt.5 human [O95467-1]

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
AJ009849 Genomic DNA Translation: CAA08889.1
AJ251760 Genomic DNA Translation: CAB83214.1
AF105253 mRNA Translation: AAF63226.1
AF107846 Genomic DNA Translation: AAD11804.1
AK314549 mRNA Translation: BAG37135.1
CH471077 Genomic DNA Translation: EAW75466.1
CH471077 Genomic DNA Translation: EAW75457.1
CCDSiCCDS13471.1 [O95467-1]
RefSeqiNP_000507.1, NM_000516.5
NP_001070956.1, NM_001077488.3
NP_001070957.1, NM_001077489.3
NP_001296790.1, NM_001309861.1
NP_057676.1, NM_016592.3 [O95467-1]
NP_536351.1, NM_080426.3
XP_016883310.1, XM_017027821.1 [O95467-1]
XP_016883311.1, XM_017027822.1 [O95467-1]
UniGeneiHs.125898

3D structure databases

ProteinModelPortaliO95467
SMRiO95467
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109040, 100 interactors

PTM databases

iPTMnetiO95467

Polymorphism and mutation databases

BioMutaiGNAS

Proteomic databases

EPDiO95467
PeptideAtlasiO95467
PRIDEiO95467
ProteomicsDBi50901

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2778
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313949; ENSP00000323571; ENSG00000087460 [O95467-1]
ENST00000371075; ENSP00000360115; ENSG00000087460 [O95467-1]
ENST00000371098; ENSP00000360139; ENSG00000087460 [O95467-1]
GeneIDi2778
KEGGihsa:2778
UCSCiuc002xzt.5 human [O95467-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2778
DisGeNETi2778
EuPathDBiHostDB:ENSG00000087460.23

GeneCards: human genes, protein and diseases

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GeneCardsi
GNAS
GeneReviewsiGNAS
HGNCiHGNC:4392 GNAS
HPAiCAB010337
HPA018122
MalaCardsiGNAS
MIMi139320 gene+phenotype
219080 phenotype
603233 phenotype
neXtProtiNX_O95467
OpenTargetsiENSG00000087460
PharmGKBiPA175

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000156300
HOGENOMiHOG000276539
HOVERGENiHBG081561
KOiK04632
OrthoDBi754573at2759

Miscellaneous databases

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

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ChiTaRSi
GNAS human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GNAS_complex_locus

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

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GenomeRNAii
2778

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000087460 Expressed in 252 organ(s), highest expression level in telencephalon
CleanExiHS_GNAS
ExpressionAtlasiO95467 baseline and differential
GenevisibleiO95467 HS

Family and domain databases

InterProiView protein in InterPro
IPR009434 NESP55
PfamiView protein in Pfam
PF06390 NESP55, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiGNAS3_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: O95467
Secondary accession number(s): B2RB88, E1P5G2, O95417
<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 17, 2006
Last sequence update: May 1, 1999
Last modified: January 16, 2019
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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