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Entry version 149 (08 May 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

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 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

Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity).By similarity

Miscellaneous

This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.By similarity
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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi697MagnesiumBy similarity1
Metal bindingi847MagnesiumBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei1009GTP; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi690 – 698GTPBy similarity9
Nucleotide bindingi840 – 847GTPBy similarity8
Nucleotide bindingi866 – 870GTPBy similarity5
Nucleotide bindingi935 – 938GTPBy similarity4

<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

GO - Biological processi

<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 functionTransducer
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q5JWF2

<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:
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Alternative name(s):
Adenylate cyclase-stimulating G alpha protein
Extra large alphas protein
Short name:
XLalphas
<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:GNAS
Synonyms:GNAS11 Publication
<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

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_Q5JWF2

<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, 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

GNAS hyperfunction (GNASHYP)2 Publications
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
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_028777436A → D in GNASHYP. 2 PublicationsCorresponds to variant dbSNP:rs61749698Ensembl.1
Natural variantiVAR_028779459P → R in GNASHYP. 2 PublicationsCorresponds to variant dbSNP:rs148033592Ensembl.1
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
Pseudohypoparathyroidism 1C (PHP1C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.
See also OMIM:612462

Keywords - Diseasei

Cushing syndrome, Disease mutation

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
612462 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000087460

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA175

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNAS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116248089

<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_00002539841 – 1037Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLasAdd BLAST1037

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 residuei844ADP-ribosylarginine; by cholera toxinBy similarity1
Modified residuei995PhosphoserineCombined sources1

Keywords - PTMi

ADP-ribosylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5JWF2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q5JWF2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5JWF2

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

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PaxDbi
Q5JWF2

PeptideAtlas

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PeptideAtlasi
Q5JWF2

PRoteomics IDEntifications database

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PRIDEi
Q5JWF2

ProteomicsDB human proteome resource

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ProteomicsDBi
63384
63385 [Q5JWF2-2]
63386 [Q5JWF2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5JWF2

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q5JWF2

<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

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

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5JWF2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5JWF2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB010337
HPA027478
HPA028386

<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

G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts through its N-terminal region with ALEX which is produced from the same locus in a different open reading frame. This interaction may inhibit its adenylyl cyclase-stimulating activity (By similarity). Interacts with MAGED2 (PubMed:27120771).By similarity1 Publication

<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

WithEntry#Exp.IntActNotes
ARRB1P494075EBI-4400880,EBI-743313

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109040, 107 interactors

Protein interaction database and analysis system

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IntActi
Q5JWF2, 13 interactors

Molecular INTeraction database

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MINTi
Q5JWF2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360141

<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

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SMRi
Q5JWF2

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

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>Domaini682 – 1037G-alphaPROSITE-ProRule annotationAdd BLAST356

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni685 – 698G1 motifPROSITE-ProRule annotationAdd BLAST14
Regioni839 – 847G2 motifPROSITE-ProRule annotation9
Regioni862 – 871G3 motifPROSITE-ProRule annotation10
Regioni931 – 938G4 motifPROSITE-ProRule annotation8
Regioni1007 – 1012G5 motifPROSITE-ProRule annotation6

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili641 – 667Sequence analysisAdd BLAST27
Coiled coili730 – 756Sequence analysisAdd BLAST27

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 biasi358 – 522Ala-richSequence analysisAdd BLAST165

<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 G-alpha family. G(s) subfamily.Sequence analysis

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0099 Eukaryota
ENOG410XPC4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156300

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q5JWF2

Database of Orthologous Groups

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OrthoDBi
754573at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q5JWF2

TreeFam database of animal gene trees

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TreeFami
TF300673

Family and domain databases

Conserved Domains Database

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CDDi
cd00066 G-alpha, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.400.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000367 Gprotein_alpha_S
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase

The PANTHER Classification System

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PANTHERi
PTHR10218 PTHR10218, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00503 G-alpha, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00318 GPROTEINA
PR00443 GPROTEINAS

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00275 G_alpha, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51882 G_ALPHA, 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.

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 XLas-1 (identifier: Q5JWF2-1) [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
MGVRNCLYGN NMSGQRDIPP EIGEQPEQPP LEAPGAAAPG AGPSPAEEME
60 70 80 90 100
TEPPHNEPIP VENDGEACGP PEVSRPNFQV LNPAFREAGA HGSYSPPPEE
110 120 130 140 150
AMPFEAEQPS LGGFWPTLEQ PGFPSGVHAG LEAFGPALME PGAFSGARPG
160 170 180 190 200
LGGYSPPPEE AMPFEFDQPA QRGCSQLLLQ VPDLAPGGPG AAGVPGAPPE
210 220 230 240 250
EPQALRPAKA GSRGGYSPPP EETMPFELDG EGFGDDSPPP GLSRVIAQVD
260 270 280 290 300
GSSQFAAVAA SSAVRLTPAA NAPPLWVPGA IGSPSQEAVR PPSNFTGSSP
310 320 330 340 350
WMEISGPPFE IGSAPAGVDD TPVNMDSPPI ALDGPPIKVS GAPDKRERAE
360 370 380 390 400
RPPVEEEAAE MEGAADAAEG GKVPSPGYGS PAAGAASADT AARAAPAAPA
410 420 430 440 450
DPDSGATPED PDSGTAPADP DSGAFAADPD SGAAPAAPAD PDSGAAPDAP
460 470 480 490 500
ADPDSGAAPD APADPDAGAA PEAPAAPAAA ETRAAHVAPA APDAGAPTAP
510 520 530 540 550
AASATRAAQV RRAASAAPAS GARRKIHLRP PSPEIQAADP PTPRPTRASA
560 570 580 590 600
WRGKSESSRG RRVYYDEGVA SSDDDSSGDE SDDGTSGCLR WFQHRRNRRR
610 620 630 640 650
RKPQRNLLRN FLVQAFGGCF GRSESPQPKA SRSLKVKKVP LAEKRRQMRK
660 670 680 690 700
EALEKRAQKR AEKKRSKLID KQLQDEKMGY MCTHRLLLLG AGESGKSTIV
710 720 730 740 750
KQMRILHVNG FNGEGGEEDP QAARSNSDGE KATKVQDIKN NLKEAIETIV
760 770 780 790 800
AAMSNLVPPV ELANPENQFR VDYILSVMNV PDFDFPPEFY EHAKALWEDE
810 820 830 840 850
GVRACYERSN EYQLIDCAQY FLDKIDVIKQ ADYVPSDQDL LRCRVLTSGI
860 870 880 890 900
FETKFQVDKV NFHMFDVGGQ RDERRKWIQC FNDVTAIIFV VASSSYNMVI
910 920 930 940 950
REDNQTNRLQ EALNLFKSIW NNRWLRTISV ILFLNKQDLL AEKVLAGKSK
960 970 980 990 1000
IEDYFPEFAR YTTPEDATPE PGEDPRVTRA KYFIRDEFLR ISTASGDGRH
1010 1020 1030
YCYPHFTCAV DTENIRRVFN DCRDIIQRMH LRQYELL
Note: Gene prediction confirmed by EST data.Curated
Length:1,037
Mass (Da):111,025
Last modified:October 17, 2006 - 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:i02CB52383015E75D
GO
Isoform XLas-2 (identifier: Q5JWF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     714-729: EGGEEDPQAARSNSDG → DS

Note: Gene prediction confirmed by EST data.Curated
Show »
Length:1,023
Mass (Da):109,626
Checksum:i22DBCF510AEF25D6
GO
Isoform XLas-3 (identifier: Q5JWF2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-752: AGESGKSTIV...KEAIETIVAA → RKVVPSDTEG...VLENLVKAPL
     753-1037: Missing.

Show »
Length:752
Mass (Da):77,643
Checksum:i65A9202D681E861F
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 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 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 Nesp55Curated (identifier: O95467-1) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry O95467.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
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
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>
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>
O95467GNAS3_HUMAN
Neuroendocrine secretory protein 55
GNAS GNAS1
245Annotation 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

<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 CAB83215 differs from that shown. Reason: Frameshift at position 40.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 conflicti15Q → E in CAB83215 (PubMed:10749992).Curated1
Sequence conflicti46A → S in CAB83215 (PubMed:10749992).Curated1
Sequence conflicti132E → A in CAB83215 (PubMed:10749992).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028777436A → D in GNASHYP. 2 PublicationsCorresponds to variant dbSNP:rs61749698Ensembl.1
Natural variantiVAR_028778437A → APADPDSGAAPDA in GNAS hyperfunction. 2 Publications1
Natural variantiVAR_028779459P → R in GNASHYP. 2 PublicationsCorresponds to variant dbSNP:rs148033592Ensembl.1
Natural variantiVAR_0596561023R → L. Corresponds to variant dbSNP:rs8986Ensembl.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_052173691 – 752AGESG…TIVAA → RKVVPSDTEGRFRLDRPAPA TVSWTGRGFSVSSLLIRSPN PPAFTVEKPDTQVLENLVKA PL in isoform XLas-3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_052174714 – 729EGGEE…SNSDG → DS in isoform XLas-2. CuratedAdd BLAST16
Alternative sequenceiVSP_052175753 – 1037Missing in isoform XLas-3. 1 PublicationAdd BLAST285

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
AL109840 Genomic DNA No translation available.
AL121917 Genomic DNA No translation available.
AL132655 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75462.1
CH471077 Genomic DNA Translation: EAW75469.1
AJ251760 Genomic DNA Translation: CAB83215.1 Frameshift.
AJ224867 mRNA Translation: CAA12164.1
AJ224868 Genomic DNA Translation: CAA12165.1
AY898804 Genomic DNA Translation: AAX51890.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46622.1 [Q5JWF2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001296812.1, NM_001309883.1
NP_536350.2, NM_080425.3 [Q5JWF2-1]
XP_016883302.1, XM_017027813.1 [Q5JWF2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371100; ENSP00000360141; ENSG00000087460 [Q5JWF2-1]
ENST00000371102; ENSP00000360143; ENSG00000087460 [Q5JWF2-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2778

UCSC genome browser

More...
UCSCi
uc002xzw.4 human [Q5JWF2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL109840 Genomic DNA No translation available.
AL121917 Genomic DNA No translation available.
AL132655 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75462.1
CH471077 Genomic DNA Translation: EAW75469.1
AJ251760 Genomic DNA Translation: CAB83215.1 Frameshift.
AJ224867 mRNA Translation: CAA12164.1
AJ224868 Genomic DNA Translation: CAA12165.1
AY898804 Genomic DNA Translation: AAX51890.1
CCDSiCCDS46622.1 [Q5JWF2-1]
RefSeqiNP_001296812.1, NM_001309883.1
NP_536350.2, NM_080425.3 [Q5JWF2-1]
XP_016883302.1, XM_017027813.1 [Q5JWF2-2]

3D structure databases

SMRiQ5JWF2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109040, 107 interactors
IntActiQ5JWF2, 13 interactors
MINTiQ5JWF2
STRINGi9606.ENSP00000360141

PTM databases

iPTMnetiQ5JWF2
SwissPalmiQ5JWF2

Polymorphism and mutation databases

BioMutaiGNAS
DMDMi116248089

Proteomic databases

EPDiQ5JWF2
jPOSTiQ5JWF2
MaxQBiQ5JWF2
PaxDbiQ5JWF2
PeptideAtlasiQ5JWF2
PRIDEiQ5JWF2
ProteomicsDBi63384
63385 [Q5JWF2-2]
63386 [Q5JWF2-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2778
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371100; ENSP00000360141; ENSG00000087460 [Q5JWF2-1]
ENST00000371102; ENSP00000360143; ENSG00000087460 [Q5JWF2-2]
GeneIDi2778
UCSCiuc002xzw.4 human [Q5JWF2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2778
DisGeNETi2778

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GNAS
GeneReviewsiGNAS
HGNCiHGNC:4392 GNAS
HPAiCAB010337
HPA027478
HPA028386
MalaCardsiGNAS
MIMi139320 gene+phenotype
219080 phenotype
603233 phenotype
612462 phenotype
neXtProtiNX_Q5JWF2
OpenTargetsiENSG00000087460
PharmGKBiPA175

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0099 Eukaryota
ENOG410XPC4 LUCA
GeneTreeiENSGT00940000156300
InParanoidiQ5JWF2
OrthoDBi754573at2759
PhylomeDBiQ5JWF2
TreeFamiTF300673

Enzyme and pathway databases

ReactomeiR-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state
SIGNORiQ5JWF2

Miscellaneous databases

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

More...
ChiTaRSi
GNAS human

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

More...
GenomeRNAii
2778

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000087460 Expressed in 252 organ(s), highest expression level in telencephalon
ExpressionAtlasiQ5JWF2 baseline and differential
GenevisibleiQ5JWF2 HS

Family and domain databases

CDDicd00066 G-alpha, 1 hit
Gene3Di1.10.400.10, 1 hit
InterProiView protein in InterPro
IPR000367 Gprotein_alpha_S
IPR001019 Gprotein_alpha_su
IPR011025 GproteinA_insert
IPR027417 P-loop_NTPase
PANTHERiPTHR10218 PTHR10218, 1 hit
PfamiView protein in Pfam
PF00503 G-alpha, 1 hit
PRINTSiPR00318 GPROTEINA
PR00443 GPROTEINAS
SMARTiView protein in SMART
SM00275 G_alpha, 1 hit
SUPFAMiSSF47895 SSF47895, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51882 G_ALPHA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiGNAS1_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: Q5JWF2
Secondary accession number(s): A2A2S3
, E1P5G3, O75684, O75685, Q5JW67, Q5JWF1, Q9NY42
<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: October 17, 2006
Last modified: May 8, 2019
This is version 149 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

Complete proteome, Reference proteome

Documents

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