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UniProtKB - Q9NRG9 (AAAS_HUMAN)

Protein

Aladin

Gene

AAAS

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

Annotation score:5 out of 5

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

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

Plays a role in the normal development of the peripheral and central nervous system.

<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

  • fertilization Source: Ensembl
  • learning Source: Ensembl
  • mRNA export from nucleus Source: Reactome
  • nucleocytoplasmic transport Source: MGI
  • regulation of nucleocytoplasmic transport Source: UniProtKB
  • viral process Source: Reactome
View the 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

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-159227 Transport of the SLBP independent Mature mRNA
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054 Rev-mediated nuclear export of HIV RNA
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-168325 Viral Messenger RNA Synthesis
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746 Nuclear import of Rev protein
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-191859 snRNP Assembly
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4615885 SUMOylation of DNA replication proteins
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-6784531 tRNA processing in the nucleus

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

More...SignaLinki		Q9NRG9

Protein family/group databases

Transport Classification Database

More...TCDBi		1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

<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:
Aladin
Alternative name(s):
Adracalin
<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:AAAS
Synonyms:ADRACALA
ORF Names:GL003
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000094914.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:13666 AAAS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605378 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NRG9

<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

Keywords - Cellular componenti

Nuclear pore complex, Nucleus

<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

Achalasia-addisonianism-alacrima syndrome (AAAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
See also OMIM:231550
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_01280415Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar.1
Natural variantiVAR_08041484 – 546Missing in AAAS. 1 PublicationAdd BLAST463
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar.1
Natural variantiVAR_080415286 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST261
Natural variantiVAR_080416342 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST205

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		8086

MalaCards human disease database

More...MalaCardsi		AAAS
MIMi231550 phenotype

Open Targets

More...OpenTargetsi		ENSG00000094914

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

More...Orphaneti		869 Triple A syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24361

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AAAS

Domain mapping of disease mutations (DMDM)

More...DMDMi		20137527

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000508282 – 546AladinAdd BLAST545

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 residuei2N-acetylcysteineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei511PhosphoserineCombined sources1
Modified residuei522PhosphoserineBy similarity1
Modified residuei525PhosphoserineBy similarity1
Modified residuei541PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NRG9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NRG9

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

More...PaxDbi		Q9NRG9

PeptideAtlas

More...PeptideAtlasi		Q9NRG9

PRoteomics IDEntifications database

More...PRIDEi		Q9NRG9

ProteomicsDB human proteome resource

More...ProteomicsDBi		82359
82360 [Q9NRG9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NRG9

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

More...PhosphoSitePlusi		Q9NRG9

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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000094914 Expressed in 202 organ(s), highest expression level in lower esophagus muscularis layer

CleanEx database of gene expression profiles

More...CleanExi		HS_AAAS

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NRG9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NRG9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA040086

<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 NDC1, the interaction is required for nuclear pore localization.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		113759, 34 interactors

Protein interaction database and analysis system

More...IntActi		Q9NRG9, 21 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000209873

<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		Q9NRG9

Database of comparative protein structure models

More...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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati142 – 180WD 1Add BLAST39
Repeati183 – 222WD 2Add BLAST40
Repeati234 – 274WD 3Add BLAST41
Repeati280 – 316WD 4Add BLAST37
Repeati324 – 380WD 5Add BLAST57
Repeati386 – 433WD 6Add BLAST48
Repeati442 – 482WD 7Add BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi544 – 546Microbody targeting signalSequence analysis3

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2139 Eukaryota
ENOG410XNTD LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009446

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033741

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG026353

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NRG9

KEGG Orthology (KO)

More...KOi		K14320

Identification of Orthologs from Complete Genome Data

More...OMAi		DHSETLW

Database of Orthologous Groups

More...OrthoDBi		EOG091G0IZP

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NRG9

TreeFam database of animal gene trees

More...TreeFami		TF324412

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320 WD40, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 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 (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.

<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 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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NRG9-1) [UniParc]FASTAAdd to basket
Also known as: AAAS-v1

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
MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL 
        60         70         80         90        100
TKDPLKTPGR LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE 
       110        120        130        140        150
EEVFEWVKTA SGWALALCRW ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS 
       160        170        180        190        200
SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA SSTIVPSLKH RLQRNVASLA 
       210        220        230        240        250
WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS HPGHTPVTSL 
       260        270        280        290        300
AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS 
       310        320        330        340        350
KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE 
       360        370        380        390        400
PLIYSLSFPE RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH 
       410        420        430        440        450
SMVWDPSGER LAVLMKGKPR VQDGKPVILL FRTRNSPVFE LLPCGIIQGE 
       460        470        480        490        500
PGAQPQLITF HPSFNKGALL SVGWSTGRIA HIPLYFVNAQ FPRFSPVLGR 
       510        520        530        540 
AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH SPHSHL
Length:546
Mass (Da):59,574
Last modified:October 1, 2000 - 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:iE0F4E7145D8C192E
GO
Isoform 2 (identifier: Q9NRG9-2) [UniParc]FASTAAdd to basket
Also known as: AAAS-v2

The sequence of this isoform differs from the canonical sequence as follows:
     149-182: WSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASS → C

Note: Ubiquitously expressed.
Show »
Length:513
Mass (Da):55,814
Checksum:i282F804D7F10A2C6
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VZ44F8VZ44_HUMAN
Aladin
AAAS
422Annotation 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>
F8VUB6F8VUB6_HUMAN
Aladin
AAAS
277Annotation 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>
H3BU82H3BU82_HUMAN
Aladin
AAAS
358Annotation 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>

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 conflicti122S → P in BAA91394 (PubMed:14702039).Curated1
Sequence conflicti135R → K in BAA91394 (PubMed:14702039).Curated1
Sequence conflicti479I → V in BAA91394 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01280415Q → K in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918549EnsemblClinVar.1
Natural variantiVAR_08041484 – 546Missing in AAAS. 1 PublicationAdd BLAST463
Natural variantiVAR_037060108K → M. Corresponds to variant dbSNP:rs13330Ensembl.1
Natural variantiVAR_012805160H → R in AAAS. 1 Publication1
Natural variantiVAR_012806263S → P in AAAS. 1 PublicationCorresponds to variant dbSNP:rs121918550EnsemblClinVar.1
Natural variantiVAR_080415286 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST261
Natural variantiVAR_080416342 – 546Missing in AAAS; unknown pathological significance. 1 PublicationAdd BLAST205

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043014149 – 182WSSCC…YNASS → C in isoform 2. 1 PublicationAdd BLAST34

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
AJ289857 mRNA Translation: CAC19017.1
AJ289841
, AJ289842, AJ289843, AJ289844, AJ289845, AJ289846, AJ289847, AJ289848, AJ289849, AJ289850, AJ289851, AJ289852, AJ289853, AJ289854, AJ289855, AJ289856 Genomic DNA Translation: CAC19038.1
AJ297977 Genomic DNA Translation: CAC17465.1
AY237818 mRNA Translation: AAP69911.1
AF226048 mRNA Translation: AAF86948.1
AK000833 mRNA Translation: BAA91394.1
BT006912 mRNA Translation: AAP35558.1
AC073611 Genomic DNA No translation available.
BC000659 mRNA Translation: AAH00659.1
AL110160 mRNA Translation: CAB53665.2

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53797.1 [Q9NRG9-2]
CCDS8856.1 [Q9NRG9-1]

NCBI Reference Sequences

More...RefSeqi		NP_001166937.1, NM_001173466.1 [Q9NRG9-2]
NP_056480.1, NM_015665.5 [Q9NRG9-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.369144

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000209873; ENSP00000209873; ENSG00000094914 [Q9NRG9-1]
ENST00000394384; ENSP00000377908; ENSG00000094914 [Q9NRG9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8086

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8086

UCSC genome browser

More...UCSCi		uc001scr.5 human [Q9NRG9-1]

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
AJ289857 mRNA Translation: CAC19017.1
AJ289841
, AJ289842, AJ289843, AJ289844, AJ289845, AJ289846, AJ289847, AJ289848, AJ289849, AJ289850, AJ289851, AJ289852, AJ289853, AJ289854, AJ289855, AJ289856 Genomic DNA Translation: CAC19038.1
AJ297977 Genomic DNA Translation: CAC17465.1
AY237818 mRNA Translation: AAP69911.1
AF226048 mRNA Translation: AAF86948.1
AK000833 mRNA Translation: BAA91394.1
BT006912 mRNA Translation: AAP35558.1
AC073611 Genomic DNA No translation available.
BC000659 mRNA Translation: AAH00659.1
AL110160 mRNA Translation: CAB53665.2
CCDSiCCDS53797.1 [Q9NRG9-2]
CCDS8856.1 [Q9NRG9-1]
RefSeqiNP_001166937.1, NM_001173466.1 [Q9NRG9-2]
NP_056480.1, NM_015665.5 [Q9NRG9-1]
UniGeneiHs.369144

3D structure databases

ProteinModelPortaliQ9NRG9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113759, 34 interactors
IntActiQ9NRG9, 21 interactors
STRINGi9606.ENSP00000209873

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

PTM databases

iPTMnetiQ9NRG9
PhosphoSitePlusiQ9NRG9

Polymorphism and mutation databases

BioMutaiAAAS
DMDMi20137527

Proteomic databases

EPDiQ9NRG9
MaxQBiQ9NRG9
PaxDbiQ9NRG9
PeptideAtlasiQ9NRG9
PRIDEiQ9NRG9
ProteomicsDBi82359
82360 [Q9NRG9-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		8086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000209873; ENSP00000209873; ENSG00000094914 [Q9NRG9-1]
ENST00000394384; ENSP00000377908; ENSG00000094914 [Q9NRG9-2]
GeneIDi8086
KEGGihsa:8086
UCSCiuc001scr.5 human [Q9NRG9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8086
DisGeNETi8086
EuPathDBiHostDB:ENSG00000094914.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		AAAS
HGNCiHGNC:13666 AAAS
HPAiHPA040086
MalaCardsiAAAS
MIMi231550 phenotype
605378 gene
neXtProtiNX_Q9NRG9
OpenTargetsiENSG00000094914
Orphaneti869 Triple A syndrome
PharmGKBiPA24361

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2139 Eukaryota
ENOG410XNTD LUCA
GeneTreeiENSGT00390000009446
HOGENOMiHOG000033741
HOVERGENiHBG026353
InParanoidiQ9NRG9
KOiK14320
OMAiDHSETLW
OrthoDBiEOG091G0IZP
PhylomeDBiQ9NRG9
TreeFamiTF324412

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-159227 Transport of the SLBP independent Mature mRNA
R-HSA-159230 Transport of the SLBP Dependant Mature mRNA
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054 Rev-mediated nuclear export of HIV RNA
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-168325 Viral Messenger RNA Synthesis
R-HSA-168333 NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822 Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746 Nuclear import of Rev protein
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-191859 snRNP Assembly
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3232142 SUMOylation of ubiquitinylation proteins
R-HSA-3301854 Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-4085377 SUMOylation of SUMOylation proteins
R-HSA-4551638 SUMOylation of chromatin organization proteins
R-HSA-4570464 SUMOylation of RNA binding proteins
R-HSA-4615885 SUMOylation of DNA replication proteins
R-HSA-5578749 Transcriptional regulation by small RNAs
R-HSA-6784531 tRNA processing in the nucleus
SignaLinkiQ9NRG9

Miscellaneous databases

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

More...ChiTaRSi		AAAS human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AAAS_(gene)

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

More...GenomeRNAii		8086

Protein Ontology

More...PROi		PR:Q9NRG9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000094914 Expressed in 202 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_AAAS
ExpressionAtlasiQ9NRG9 baseline and differential
GenevisibleiQ9NRG9 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 4 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 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 nameiAAAS_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: Q9NRG9
Secondary accession number(s): Q5JB47, Q9NWI6, Q9UG19
<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: March 27, 2002
Last sequence update: October 1, 2000
Last modified: December 5, 2018
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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