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UniProtKB - Q9BTA9 (WAC_HUMAN)

Entry version 164 (29 Sep 2021)
Sequence version 3 (31 Oct 2006)
Previous versions | rss
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Protein

WW domain-containing adapter protein with coiled-coil

Gene

WAC

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

Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1) (PubMed:21329877).

Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription (PubMed:21329877).

Regulates the cell-cycle checkpoint activation in response to DNA damage (PubMed:21329877).

Positive regulator of amino acid starvation-induced autophagy (PubMed:22354037).

Also acts as a negative regulator of basal autophagy (PubMed:26812014).

Positively regulates MTOR activity by promoting, in an energy-dependent manner, the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex. This leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014).

May negatively regulate the ubiquitin proteasome pathway (PubMed:21329877).

3 Publications

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

  • chromatin binding Source: UniProtKB
  • RNA polymerase II complex binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionChromatin regulator
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BTA9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins

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

More...SignaLinki		Q9BTA9

<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:
WW domain-containing adapter protein with coiled-coil
<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:WAC
Synonyms:KIAA1844
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17327, WAC

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615049, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BTA9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000095787

<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

Keywords - Cellular componenti

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

DeSanto-Shinawi syndrome (DESSH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies.
Related information in OMIM
Defects in WAC are the cause of a form of intellectual disability characterized by hypotonia, behavioral problems and distinctive facial dysmorphisms including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin.1 Publication

Organism-specific databases

DisGeNET

More...DisGeNETi		51322

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

More...GeneReviewsi		WAC

MalaCards human disease database

More...MalaCardsi		WAC
MIMi616708, phenotype

Open Targets

More...OpenTargetsi		ENSG00000095787

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

More...Orphaneti		284169, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
466950, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134978936

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BTA9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WAC

Domain mapping of disease mutations (DMDM)

More...DMDMi		117949358

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002545581 – 647WW domain-containing adapter protein with coiled-coilAdd BLAST647

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 residuei53PhosphoserineCombined sources1
Modified residuei131PhosphoserineCombined sources1
Modified residuei142PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei293PhosphothreonineCombined sources1
Modified residuei302N6-acetyllysineCombined sources1
Modified residuei446PhosphoserineCombined sources1
Modified residuei471PhosphothreonineCombined sources1
Modified residuei511PhosphoserineCombined sources1
Modified residuei523PhosphoserineCombined sources1
Modified residuei525PhosphoserineCombined sources1

<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

Phosphorylated on tyrosine residues.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BTA9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BTA9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BTA9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BTA9

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

More...PaxDbi		Q9BTA9

PeptideAtlas

More...PeptideAtlasi		Q9BTA9

PRoteomics IDEntifications database

More...PRIDEi		Q9BTA9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78963 [Q9BTA9-1]
78964 [Q9BTA9-2]
78965 [Q9BTA9-3]
78966 [Q9BTA9-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9BTA9, 4 sites, 1 O-linked glycan (4 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BTA9

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

More...PhosphoSitePlusi		Q9BTA9

<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		ENSG00000095787, Expressed in endothelial cell and 253 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BTA9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BTA9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000095787, Low tissue specificity

<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 (via coiled coil domain) with RNF20, RNF40 and UBE2A (PubMed:21329877).

Interacts (via WW domain) with RNA polymerase II (PubMed:21329877).

Interacts with MTOR and other components of the MTOR pathway including RPTOR, RUVBL1, RUVBL2, TTI1 and TTI2 (PubMed:26812014).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119473, 56 interactors

Protein interaction database and analysis system

More...IntActi		Q9BTA9, 37 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000346986

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BTA9, protein

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

3D structure databases

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

More...SMRi		Q9BTA9

Database of comparative protein structure models

More...ModBasei		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>Domaini129 – 162WWPROSITE-ProRule annotationAdd BLAST34

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>Regioni1 – 138DisorderedSequence analysisAdd BLAST138
Regioni168 – 353DisorderedSequence analysisAdd BLAST186
Regioni428 – 549DisorderedSequence analysisAdd BLAST122

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 coili618 – 644Sequence 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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 51Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi61 – 92Basic and acidic residuesSequence analysisAdd BLAST32
Compositional biasi93 – 129Polar residuesSequence analysisAdd BLAST37
Compositional biasi168 – 191Basic and acidic residuesSequence analysisAdd BLAST24
Compositional biasi195 – 225Polar residuesSequence analysisAdd BLAST31
Compositional biasi258 – 304Polar residuesSequence analysisAdd BLAST47
Compositional biasi313 – 346Polar residuesSequence analysisAdd BLAST34

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0152, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00440000037780

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024845_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BTA9

Identification of Orthologs from Complete Genome Data

More...OMAi		XTSYSPQ

Database of Orthologous Groups

More...OrthoDBi		1111788at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BTA9

TreeFam database of animal gene trees

More...TreeFami		TF328635

Family and domain databases

Conserved Domains Database

More...CDDi		cd00201, WW, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038867, WAC
IPR001202, WW_dom
IPR036020, WW_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR15911, PTHR15911, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00397, WW, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00456, WW, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51045, SSF51045, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 1 hit

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

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

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

This entry has 4 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BTA9-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MVMYARKQQR LSDGCHDRRG DSQPYQALKY SSKSHPSSGD HRHEKMRDAG 
        60         70         80         90        100
DPSPPNKMLR RSDSPENKYS DSTGHSKAKN VHTHRVRERD GGTSYSPQEN 
       110        120        130        140        150
SHNHSALHSS NSHSSNPSNN PSKTSDAPYD SADDWSEHIS SSGKKYYYNC 
       160        170        180        190        200
RTEVSQWEKP KEWLEREQRQ KEANKMAVNS FPKDRDYRRE VMQATATSGF 
       210        220        230        240        250
ASGMEDKHSS DASSLLPQNI LSQTSRHNDR DYRLPRAETH SSSTPVQHPI 
       260        270        280        290        300
KPVVHPTATP STVPSSPFTL QSDHQPKKSF DANGASTLSK LPTPTSSVPA 
       310        320        330        340        350
QKTERKESTS GDKPVSHSCT TPSTSSASGL NPTSAPPTSA SAVPVSPVPQ 
       360        370        380        390        400
SPIPPLLQDP NLLRQLLPAL QATLQLNNSN VDISKINEVL TAAVTQASLQ 
       410        420        430        440        450
SIIHKFLTAG PSAFNITSLI SQAAQLSTQA QPSNQSPMSL TSDASSPRSY 
       460        470        480        490        500
VSPRISTPQT NTVPIKPLIS TPPVSSQPKV STPVVKQGPV SQSATQQPVT 
       510        520        530        540        550
ADKQQGHEPV SPRSLQRSSS QRSPSPGPNH TSNSSNASNA TVVPQNSSAR 
       560        570        580        590        600
STCSLTPALA AHFSENLIKH VQGWPADHAE KQASRLREEA HNMGTIHMSE 
       610        620        630        640 
ICTELKNLRS LVRVCEIQAT LREQRILFLR QQIKELEKLK NQNSFMV
Length:647
Mass (Da):70,724
Last modified:October 31, 2006 - v3
<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:i15C32DAAA3A94129
GO
Isoform 2 (identifier: Q9BTA9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.

Show »
Length:602
Mass (Da):65,482
Checksum:i8CBBD18CA1EB3243
GO
Isoform 3 (identifier: Q9BTA9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.
     430-481: AQPSNQSPMS...PPVSSQPKVS → DIPLHEGIQM...MVQRLLQPSG
     482-647: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:436
Mass (Da):47,717
Checksum:i6C379F47ACC90136
GO
Isoform 4 (identifier: Q9BTA9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-307: MEDKHSSDAS...VPAQKTERKE → K

Show »
Length:544
Mass (Da):59,505
Checksum:i93716FBA60085245
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
A0A0A0MRT2A0A0A0MRT2_HUMAN
WW domain-containing adapter protei...
WAC
495Annotation 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>
C9JVK6C9JVK6_HUMAN
WW domain-containing adapter protei...
WAC
173Annotation 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>
J3QTA0J3QTA0_HUMAN
WW domain-containing adapter protei...
WAC
514Annotation 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>
A0A494C0B7A0A494C0B7_HUMAN
WW domain-containing adapter protei...
WAC
117Annotation 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>
A0A494C0C1A0A494C0C1_HUMAN
WW domain-containing adapter protei...
WAC
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>
A0A494C0S5A0A494C0S5_HUMAN
WW domain-containing adapter protei...
WAC
171Annotation 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>
C9JD58C9JD58_HUMAN
WW domain-containing adapter protei...
WAC
77Annotation 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>
C9JMU2C9JMU2_HUMAN
WW domain-containing adapter protei...
WAC
59Annotation 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>
A0A0A0MSR1A0A0A0MSR1_HUMAN
WW domain-containing adapter protei...
WAC
297Annotation 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>
A0A0D9SFY7A0A0D9SFY7_HUMAN
WW domain-containing adapter protei...
WAC
143Annotation 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 AAH04258 differs from that shown. Reason: Frameshift.Curated
The sequence AAH10356 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB47473 differs from that shown. Probable cloning artifact.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 conflicti426L → F in BAB71029 (PubMed:14702039).Curated1
Sequence conflicti581K → R in AAH10356 (PubMed:15489334).Curated1
Sequence conflicti599S → P in BAD97320 (Ref. 2) Curated1

Natural variant

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_07869447 – 647Missing Probable disease-associated variant found in a patient severe intellectual disability. 1 PublicationAdd BLAST601
Natural variantiVAR_028838242S → R. Corresponds to variant dbSNP:rs11595926Ensembl.1
Natural variantiVAR_053448309T → A. Corresponds to variant dbSNP:rs2232791EnsemblClinVar.1
Natural variantiVAR_036351475S → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_028839531T → S. Corresponds to variant dbSNP:rs7127Ensembl.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_0212301 – 45Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST45
Alternative sequenceiVSP_021231204 – 307MEDKH…TERKE → K in isoform 4. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_021233430 – 481AQPSN…QPKVS → DIPLHEGIQMERDTHRSKWE VKGSLCQKADKQQECLVWNG SIMVQRLLQPSG in isoform 3. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_021236482 – 647Missing in isoform 3. 1 PublicationAdd BLAST166

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
AK055852 mRNA Translation: BAB71029.1
AK223600 mRNA Translation: BAD97320.1
AK290174 mRNA Translation: BAF82863.1
AL713727 mRNA Translation: CAD28517.1
AL161936 Genomic DNA No translation available.
AL358234 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86032.1
CH471072 Genomic DNA Translation: EAW86035.1
CH471072 Genomic DNA Translation: EAW86037.1
CH471072 Genomic DNA Translation: EAW86039.1
CH471072 Genomic DNA Translation: EAW86040.1
CH471072 Genomic DNA Translation: EAW86042.1
BC004258 mRNA Translation: AAH04258.2 Frameshift.
BC010356 mRNA Translation: AAH10356.1 Different initiation.
AB058747 mRNA Translation: BAB47473.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7159.1 [Q9BTA9-1]
CCDS7160.1 [Q9BTA9-5]
CCDS7161.1 [Q9BTA9-2]

NCBI Reference Sequences

More...RefSeqi		NP_057712.2, NM_016628.4 [Q9BTA9-1]
NP_567822.1, NM_100264.2 [Q9BTA9-2]
NP_567823.1, NM_100486.3 [Q9BTA9-5]
XP_011517793.1, XM_011519491.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000347934; ENSP00000311106; ENSG00000095787 [Q9BTA9-5]
ENST00000354911; ENSP00000346986; ENSG00000095787 [Q9BTA9-1]
ENST00000375664; ENSP00000364816; ENSG00000095787 [Q9BTA9-2]
ENST00000439676; ENSP00000415727; ENSG00000095787 [Q9BTA9-3]
ENST00000442148; ENSP00000400848; ENSG00000095787 [Q9BTA9-2]
ENST00000679398; ENSP00000506624; ENSG00000095787 [Q9BTA9-2]
ENST00000679428; ENSP00000506445; ENSG00000095787 [Q9BTA9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51322

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51322

UCSC genome browser

More...UCSCi		uc001iud.3, human [Q9BTA9-1]

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
AK055852 mRNA Translation: BAB71029.1
AK223600 mRNA Translation: BAD97320.1
AK290174 mRNA Translation: BAF82863.1
AL713727 mRNA Translation: CAD28517.1
AL161936 Genomic DNA No translation available.
AL358234 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86032.1
CH471072 Genomic DNA Translation: EAW86035.1
CH471072 Genomic DNA Translation: EAW86037.1
CH471072 Genomic DNA Translation: EAW86039.1
CH471072 Genomic DNA Translation: EAW86040.1
CH471072 Genomic DNA Translation: EAW86042.1
BC004258 mRNA Translation: AAH04258.2 Frameshift.
BC010356 mRNA Translation: AAH10356.1 Different initiation.
AB058747 mRNA Translation: BAB47473.1 Sequence problems.
CCDSiCCDS7159.1 [Q9BTA9-1]
CCDS7160.1 [Q9BTA9-5]
CCDS7161.1 [Q9BTA9-2]
RefSeqiNP_057712.2, NM_016628.4 [Q9BTA9-1]
NP_567822.1, NM_100264.2 [Q9BTA9-2]
NP_567823.1, NM_100486.3 [Q9BTA9-5]
XP_011517793.1, XM_011519491.2

3D structure databases

SMRiQ9BTA9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119473, 56 interactors
IntActiQ9BTA9, 37 interactors
STRINGi9606.ENSP00000346986

PTM databases

GlyGeniQ9BTA9, 4 sites, 1 O-linked glycan (4 sites)
iPTMnetiQ9BTA9
PhosphoSitePlusiQ9BTA9

Genetic variation databases

BioMutaiWAC
DMDMi117949358

Proteomic databases

EPDiQ9BTA9
jPOSTiQ9BTA9
MassIVEiQ9BTA9
MaxQBiQ9BTA9
PaxDbiQ9BTA9
PeptideAtlasiQ9BTA9
PRIDEiQ9BTA9
ProteomicsDBi78963 [Q9BTA9-1]
78964 [Q9BTA9-2]
78965 [Q9BTA9-3]
78966 [Q9BTA9-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		50013, 129 antibodies

The DNASU plasmid repository

More...DNASUi		51322

Genome annotation databases

EnsembliENST00000347934; ENSP00000311106; ENSG00000095787 [Q9BTA9-5]
ENST00000354911; ENSP00000346986; ENSG00000095787 [Q9BTA9-1]
ENST00000375664; ENSP00000364816; ENSG00000095787 [Q9BTA9-2]
ENST00000439676; ENSP00000415727; ENSG00000095787 [Q9BTA9-3]
ENST00000442148; ENSP00000400848; ENSG00000095787 [Q9BTA9-2]
ENST00000679398; ENSP00000506624; ENSG00000095787 [Q9BTA9-2]
ENST00000679428; ENSP00000506445; ENSG00000095787 [Q9BTA9-2]
GeneIDi51322
KEGGihsa:51322
UCSCiuc001iud.3, human [Q9BTA9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51322
DisGeNETi51322

GeneCards: human genes, protein and diseases

More...GeneCardsi		WAC
GeneReviewsiWAC
HGNCiHGNC:17327, WAC
HPAiENSG00000095787, Low tissue specificity
MalaCardsiWAC
MIMi615049, gene
616708, phenotype
neXtProtiNX_Q9BTA9
OpenTargetsiENSG00000095787
Orphaneti284169, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
466950, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
PharmGKBiPA134978936
VEuPathDBiHostDB:ENSG00000095787

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0152, Eukaryota
GeneTreeiENSGT00440000037780
HOGENOMiCLU_024845_2_1_1
InParanoidiQ9BTA9
OMAiXTSYSPQ
OrthoDBi1111788at2759
PhylomeDBiQ9BTA9
TreeFamiTF328635

Enzyme and pathway databases

PathwayCommonsiQ9BTA9
ReactomeiR-HSA-8866654, E3 ubiquitin ligases ubiquitinate target proteins
SignaLinkiQ9BTA9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51322, 320 hits in 1021 CRISPR screens

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

More...ChiTaRSi		WAC, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		WAC_(gene)

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

More...GenomeRNAii		51322
PharosiQ9BTA9, Tbio

Protein Ontology

More...PROi		PR:Q9BTA9
RNActiQ9BTA9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000095787, Expressed in endothelial cell and 253 other tissues
ExpressionAtlasiQ9BTA9, baseline and differential
GenevisibleiQ9BTA9, HS

Family and domain databases

CDDicd00201, WW, 1 hit
InterProiView protein in InterPro
IPR038867, WAC
IPR001202, WW_dom
IPR036020, WW_dom_sf
PANTHERiPTHR15911, PTHR15911, 1 hit
PfamiView protein in Pfam
PF00397, WW, 1 hit
SMARTiView protein in SMART
SM00456, WW, 1 hit
SUPFAMiSSF51045, SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWAC_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: Q9BTA9
Secondary accession number(s): A8K2A9
, C9JBT9, D3DRW5, D3DRW6, D3DRW7, Q53EN9, Q5JU75, Q5JU77, Q5VXK0, Q5VXK2, Q8TCK1, Q96DP3, Q96FW6, Q96JI3
<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 31, 2006
Last sequence update: October 31, 2006
Last modified: September 29, 2021
This is version 164 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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