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Entry version 160 (08 May 2019)
Sequence version 1 (01 Jun 2002)
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Protein

WD repeat-containing protein 48

Gene

WDR48

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

Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029). Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself (PubMed:18082604). Also activates deubiquitinating activity of complexes containing USP12 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (PubMed:27650958, PubMed:27373336). Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate (PubMed:19075014, PubMed:27373336). In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035). In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP (PubMed:12196293). In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 (PubMed:18032488).8 Publications

Miscellaneous

Knockdown of WDR48 increases Akt activation.1 Publication

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

  • ubiquitin binding Source: GO_Central

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

Biological processHost-virus interaction, Ubl conjugation pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex
R-HSA-5689880 Ub-specific processing proteases
R-HSA-6783310 Fanconi Anemia Pathway

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

More...
SignaLinki
Q8TAF3

<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:
WD repeat-containing protein 48
Alternative name(s):
USP1-associated factor 1
WD repeat endosomal protein
p801 Publication
<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:WDR48
Synonyms:KIAA1449, UAF1
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30914 WDR48

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612167 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TAF3

<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

Cytoplasm, Endosome, Lysosome, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi77W → A: Impaired binding to USP12; when associated with Ala-256. 1 Publication1
Mutagenesisi119Y → A: Impaired binding to USP12; when associated with Ala-172. 1 Publication1
Mutagenesisi170S → Y: Strongly reduces interaction with USP46 and abolishes stimulation of USP46 enzyme activity. 1 Publication1
Mutagenesisi172Y → A: Impaired binding to USP12; when associated with Ala-119. 1 Publication1
Mutagenesisi214K → E: Strongly reduces interaction with USP12 or USP46 and abolishes stimulation of their enzyme activity; when associated with A-256 and D-272. 2 Publications1
Mutagenesisi256W → A: Strongly reduces interaction with USP12 or USP46 and abolishes stimulation of their enzyme activity; when associated with E-214 and D-272. Impaired binding to USP12; when associated with Ala-77. 3 Publications1
Mutagenesisi272R → D: Strongly reduces interaction with USP12 or USP46 and abolishes stimulation of their enzyme activity; when associated with E-214 and A-256. 2 Publications1
Mutagenesisi580L → F: Impaired binding to PHLPP1. Defective in stabilizing PHLPP1. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
57599

MalaCards human disease database

More...
MalaCardsi
WDR48

Open Targets

More...
OpenTargetsi
ENSG00000114742

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

More...
Orphaneti
401800 Autosomal recessive spastic paraplegia type 60

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134956949

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3430885

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WDR48

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74760390

<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_00000513991 – 677WD repeat-containing protein 48Add BLAST677

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 residuei28PhosphotyrosineBy similarity1
Modified residuei214N6-acetyllysineCombined sources1
Modified residuei578N6-acetyllysineBy similarity1
Modified residuei613PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TAF3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TAF3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TAF3

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

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PaxDbi
Q8TAF3

PeptideAtlas

More...
PeptideAtlasi
Q8TAF3

PRoteomics IDEntifications database

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PRIDEi
Q8TAF3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73870
73871 [Q8TAF3-2]
73872 [Q8TAF3-3]
73873 [Q8TAF3-4]
73874 [Q8TAF3-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TAF3

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

More...
PhosphoSitePlusi
Q8TAF3

<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

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114742 Expressed in 227 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TAF3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TAF3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038421
HPA058015

<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 USP46 (PubMed:19075014, PubMed:26388029). Interacts with USP1 (PubMed:18082604, PubMed:26388029). Interacts with USP12 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Component of the USP12/WDR20/WDR48 deubiquitinating complex (PubMed:27373336). Interacts with PHLPP1 (PubMed:24145035).6 Publications
(Microbial infection) Interacts with papillomavirus HPV11 E1 protein.1 Publication
(Microbial infection) Interacts with Saimiriine herpesvirus TIP protein.2 Publications

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

WithEntry#Exp.IntActNotes
USP1O947822EBI-16178048,EBI-2513396

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121649, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8TAF3

Database of interacting proteins

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DIPi
DIP-50841N

Protein interaction database and analysis system

More...
IntActi
Q8TAF3, 68 interactors

Molecular INTeraction database

More...
MINTi
Q8TAF3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000307491

<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

Secondary structure

1677
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CVLX-ray3.00A2-580[»]
5CVNX-ray3.36A2-580[»]
5CVOX-ray3.88A/D1-677[»]
5K1AX-ray2.30B/D/F/H1-677[»]
5K1BX-ray3.30B1-677[»]
5K1CX-ray3.00B1-563[»]
5L8EX-ray2.30A/B9-580[»]
5L8WX-ray2.79B9-580[»]

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

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SMRi
Q8TAF3

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 ‘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>Repeati28 – 67WD 1Add BLAST40
Repeati73 – 112WD 2Add BLAST40
Repeati115 – 154WD 3Add BLAST40
Repeati166 – 205WD 4Add BLAST40
Repeati208 – 247WD 5Add BLAST40
Repeati250 – 289WD 6Add BLAST40
Repeati292 – 334WD 7Add BLAST43
Repeati358 – 397WD 8Add BLAST40

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

N-terminal WD region interacts with TIP and C-terminal region mediates lysosomal localization (Probable). The WD repeats are required for the interaction with deubiquitinating enzymes USP1, USP12 and USP46.Curated1 Publication

<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 WD repeat WDR48 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0308 Eukaryota
ENOG410XRJ5 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00920000149157

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TAF3

KEGG Orthology (KO)

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KOi
K15361

Identification of Orthologs from Complete Genome Data

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OMAi
NWFNVDL

Database of Orthologous Groups

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OrthoDBi
261328at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TAF3

TreeFam database of animal gene trees

More...
TreeFami
TF315205

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
IPR021772 WDR48/Bun107

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11816 DUF3337, 1 hit
PF00400 WD40, 4 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00320 GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
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 (5+)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 5 <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 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TAF3-1) [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
MAAHHRQNTA GRRKVQVSYV IRDEVEKYNR NGVNALQLDP ALNRLFTAGR
60 70 80 90 100
DSIIRIWSVN QHKQDPYIAS MEHHTDWVND IVLCCNGKTL ISASSDTTVK
110 120 130 140 150
VWNAHKGFCM STLRTHKDYV KALAYAKDKE LVASAGLDRQ IFLWDVNTLT
160 170 180 190 200
ALTASNNTVT TSSLSGNKDS IYSLAMNQLG TIIVSGSTEK VLRVWDPRTC
210 220 230 240 250
AKLMKLKGHT DNVKALLLNR DGTQCLSGSS DGTIRLWSLG QQRCIATYRV
260 270 280 290 300
HDEGVWALQV NDAFTHVYSG GRDRKIYCTD LRNPDIRVLI CEEKAPVLKM
310 320 330 340 350
ELDRSADPPP AIWVATTKST VNKWTLKGIH NFRASGDYDN DCTNPITPLC
360 370 380 390 400
TQPDQVIKGG ASIIQCHILN DKRHILTKDT NNNVAYWDVL KACKVEDLGK
410 420 430 440 450
VDFEDEIKKR FKMVYVPNWF SVDLKTGMLT ITLDESDCFA AWVSAKDAGF
460 470 480 490 500
SSPDGSDPKL NLGGLLLQAL LEYWPRTHVN PMDEEENEVN HVNGEQENRV
510 520 530 540 550
QKGNGYFQVP PHTPVIFGEA GGRTLFRLLC RDSGGETESM LLNETVPQWV
560 570 580 590 600
IDITVDKNMP KFNKIPFYLQ PHASSGAKTL KKDRLSASDM LQVRKVMEHV
610 620 630 640 650
YEKIINLDNE SQTTSSSNNE KPGEQEKEED IAVLAEEKIE LLCQDQVLDP
660 670
NMDLRTVKHF IWKSGGDLTL HYRQKST
Length:677
Mass (Da):76,210
Last modified:June 1, 2002 - 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:i20FDA620E02696E0
GO
Isoform 2 (identifier: Q8TAF3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-558: Missing.
     645-645: D → DQV

Note: No experimental confirmation available.
Show »
Length:121
Mass (Da):13,931
Checksum:iA1F40FA39E591BD9
GO
Isoform 3 (identifier: Q8TAF3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-99: Missing.

Note: No experimental confirmation available.
Show »
Length:668
Mass (Da):75,349
Checksum:i379C3527CC632FCF
GO
Isoform 4 (identifier: Q8TAF3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-90: MAAHHRQNTA...IVLCCNGKTL → MECQSAQV

Note: No experimental confirmation available.
Show »
Length:595
Mass (Da):66,707
Checksum:i3752FA8E527D8F7E
GO
Isoform 5 (identifier: Q8TAF3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     16-223: Missing.
     325-391: Missing.

Note: No experimental confirmation available.
Show »
Length:402
Mass (Da):45,552
Checksum:iF524F725C929EBD6
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JC24C9JC24_HUMAN
WD repeat-containing protein 48
WDR48
162Annotation 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>
F8W9K4F8W9K4_HUMAN
WD repeat-containing protein 48
WDR48
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>
F8W7Q3F8W7Q3_HUMAN
WD repeat-containing protein 48
WDR48
134Annotation 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>
F8W6P2F8W6P2_HUMAN
WD repeat-containing protein 48
WDR48
74Annotation 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>
F8W7Y5F8W7Y5_HUMAN
WD repeat-containing protein 48
WDR48
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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

The sequence AAH37168 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA95973 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH56182 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH56300 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti161T → A in AAH37168 (PubMed:15489334).Curated1
Sequence conflicti286I → V in BAG63646 (PubMed:14702039).Curated1
Sequence conflicti319S → F in BAG63646 (PubMed:14702039).Curated1
Sequence conflicti328G → E in BAG63646 (PubMed:14702039).Curated1
Sequence conflicti585L → P in BAG63646 (PubMed:14702039).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_077846628Missing Found in a patient with spastic paraplegia; unknown pathological significance. 1 Publication1

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_0167761 – 558Missing in isoform 2. 1 PublicationAdd BLAST558
Alternative sequenceiVSP_0376231 – 90MAAHH…NGKTL → MECQSAQV in isoform 4. 1 PublicationAdd BLAST90
Alternative sequenceiVSP_03762416 – 223Missing in isoform 5. 1 PublicationAdd BLAST208
Alternative sequenceiVSP_03762591 – 99Missing in isoform 3. 1 Publication9
Alternative sequenceiVSP_037626325 – 391Missing in isoform 5. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_016777645D → DQV in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF468833 mRNA Translation: AAL78650.1
AB040882 mRNA Translation: BAA95973.2 Different initiation.
AK297349 mRNA Translation: BAG59798.1
AK298810 mRNA Translation: BAG60944.1
AK302307 mRNA Translation: BAG63646.1
AL162064 mRNA Translation: CAB82402.1
AL832926 mRNA Translation: CAH56300.1 Different initiation.
BX649170 mRNA Translation: CAH56182.1 Different initiation.
BC026353 mRNA Translation: AAH26353.1
BC037168 mRNA Translation: AAH37168.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33738.1 [Q8TAF3-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T47168

NCBI Reference Sequences

More...
RefSeqi
NP_001290331.1, NM_001303402.1 [Q8TAF3-4]
NP_001290332.1, NM_001303403.1 [Q8TAF3-3]
NP_001333156.1, NM_001346227.1
NP_001333157.1, NM_001346228.1
NP_065890.1, NM_020839.3 [Q8TAF3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000302313; ENSP00000307491; ENSG00000114742 [Q8TAF3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57599

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57599

UCSC genome browser

More...
UCSCi
uc003cit.4 human [Q8TAF3-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF468833 mRNA Translation: AAL78650.1
AB040882 mRNA Translation: BAA95973.2 Different initiation.
AK297349 mRNA Translation: BAG59798.1
AK298810 mRNA Translation: BAG60944.1
AK302307 mRNA Translation: BAG63646.1
AL162064 mRNA Translation: CAB82402.1
AL832926 mRNA Translation: CAH56300.1 Different initiation.
BX649170 mRNA Translation: CAH56182.1 Different initiation.
BC026353 mRNA Translation: AAH26353.1
BC037168 mRNA Translation: AAH37168.1 Different initiation.
CCDSiCCDS33738.1 [Q8TAF3-1]
PIRiT47168
RefSeqiNP_001290331.1, NM_001303402.1 [Q8TAF3-4]
NP_001290332.1, NM_001303403.1 [Q8TAF3-3]
NP_001333156.1, NM_001346227.1
NP_001333157.1, NM_001346228.1
NP_065890.1, NM_020839.3 [Q8TAF3-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CVLX-ray3.00A2-580[»]
5CVNX-ray3.36A2-580[»]
5CVOX-ray3.88A/D1-677[»]
5K1AX-ray2.30B/D/F/H1-677[»]
5K1BX-ray3.30B1-677[»]
5K1CX-ray3.00B1-563[»]
5L8EX-ray2.30A/B9-580[»]
5L8WX-ray2.79B9-580[»]
SMRiQ8TAF3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121649, 87 interactors
CORUMiQ8TAF3
DIPiDIP-50841N
IntActiQ8TAF3, 68 interactors
MINTiQ8TAF3
STRINGi9606.ENSP00000307491

Chemistry databases

ChEMBLiCHEMBL3430885

PTM databases

iPTMnetiQ8TAF3
PhosphoSitePlusiQ8TAF3

Polymorphism and mutation databases

BioMutaiWDR48
DMDMi74760390

Proteomic databases

EPDiQ8TAF3
jPOSTiQ8TAF3
MaxQBiQ8TAF3
PaxDbiQ8TAF3
PeptideAtlasiQ8TAF3
PRIDEiQ8TAF3
ProteomicsDBi73870
73871 [Q8TAF3-2]
73872 [Q8TAF3-3]
73873 [Q8TAF3-4]
73874 [Q8TAF3-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302313; ENSP00000307491; ENSG00000114742 [Q8TAF3-1]
GeneIDi57599
KEGGihsa:57599
UCSCiuc003cit.4 human [Q8TAF3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57599
DisGeNETi57599

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WDR48
HGNCiHGNC:30914 WDR48
HPAiHPA038421
HPA058015
MalaCardsiWDR48
MIMi612167 gene
neXtProtiNX_Q8TAF3
OpenTargetsiENSG00000114742
Orphaneti401800 Autosomal recessive spastic paraplegia type 60
PharmGKBiPA134956949

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0308 Eukaryota
ENOG410XRJ5 LUCA
GeneTreeiENSGT00920000149157
InParanoidiQ8TAF3
KOiK15361
OMAiNWFNVDL
OrthoDBi261328at2759
PhylomeDBiQ8TAF3
TreeFamiTF315205

Enzyme and pathway databases

ReactomeiR-HSA-110314 Recognition of DNA damage by PCNA-containing replication complex
R-HSA-5689880 Ub-specific processing proteases
R-HSA-6783310 Fanconi Anemia Pathway
SignaLinkiQ8TAF3

Miscellaneous databases

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

More...
ChiTaRSi
WDR48 human

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

More...
GenomeRNAii
57599

Protein Ontology

More...
PROi
PR:Q8TAF3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114742 Expressed in 227 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ8TAF3 baseline and differential
GenevisibleiQ8TAF3 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
IPR021772 WDR48/Bun107
PfamiView protein in Pfam
PF11816 DUF3337, 1 hit
PF00400 WD40, 4 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
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 nameiWDR48_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: Q8TAF3
Secondary accession number(s): B4DM86
, B4DQI2, B4DY84, Q63HJ2, Q658Y1, Q8N3Z1, Q9NSK8, Q9P279
<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: December 20, 2005
Last sequence update: June 1, 2002
Last modified: May 8, 2019
This is version 160 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

3D-structure, Complete proteome, Reference proteome

Documents

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