Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 149 (16 Oct 2019)
Sequence version 2 (30 Nov 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Cilia- and flagella-associated protein 251

Gene

WDR66

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

Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).By similarity2 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 - Biological processi

Enzyme and pathway databases

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

More...
SignaLinki
Q8TBY9

<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:
Cilia- and flagella-associated protein 251Curated
Short name:
CFAP251Curated
Alternative name(s):
WD repeat-containing protein 66Curated
<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:WDR66Imported
Synonyms:CFAP251Curated
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28506 WDR66

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618146 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TBY9

<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

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

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum

<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

Spermatogenic failure 33 (SPGF33)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella.
Related information in OMIM
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_081181111 – 1149Missing in SPGF33. 1 PublicationCorresponds to variant dbSNP:rs199671406Add BLAST1039

Organism-specific databases

DisGeNET

More...
DisGeNETi
144406

MalaCards human disease database

More...
MalaCardsi
WDR66
MIMi618152 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158023

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

More...
Orphaneti
276234 Non-syndromic male infertility due to sperm motility disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670599

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TBY9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WDR66

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104048

<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_00002962551 – 1149Cilia- and flagella-associated protein 251Add BLAST1149

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TBY9

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

More...
PaxDbi
Q8TBY9

PeptideAtlas

More...
PeptideAtlasi
Q8TBY9

PRoteomics IDEntifications database

More...
PRIDEi
Q8TBY9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74051 [Q8TBY9-1]
74052 [Q8TBY9-2]
74053 [Q8TBY9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TBY9

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

More...
PhosphoSitePlusi
Q8TBY9

<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

Isoform 1 is highly expressed in testis and, at lower levels, in lung. Very low levels are detected in kidney and brain (PubMed:30122540). In testis, expressed in spermatozoa (at protein level) (PubMed:30122540, PubMed:30122541). Isoform 2 is not detected in testis, lung, kidney, nor in brain (PubMed:30122540).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158023 Expressed in 112 organ(s), highest expression level in right uterine tube

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TBY9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039902
HPA040005

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126850, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q8TBY9, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000288912

<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>Repeati335 – 377WD 1Add BLAST43
Repeati385 – 425WD 2Add BLAST41
Repeati436 – 475WD 3Add BLAST40
Repeati493 – 528WD 4Add BLAST36
Repeati531 – 591WD 5Add BLAST61
Repeati595 – 635WD 6Add BLAST41
Repeati641 – 678WD 7Add BLAST38
Repeati688 – 724WD 8Add BLAST37
Repeati731 – 774WD 9Add BLAST44
Repeati785 – 825WD 10Add BLAST41
Repeati831 – 877WD 11Add BLAST47
Repeati883 – 921WD 12Add BLAST39
Repeati959 – 999WD 13Add BLAST41
Repeati1019 – 1059WD 14Add BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi6 – 102Glu-richAdd BLAST97

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410JR21 Eukaryota
ENOG410XQRH LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013370

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000067979

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TBY9

Identification of Orthologs from Complete Genome Data

More...
OMAi
IKLYVNH

Database of Orthologous Groups

More...
OrthoDBi
169738at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TBY9

TreeFam database of animal gene trees

More...
TreeFami
TF328993

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

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, 9 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit
SSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
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>. 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 (3)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 3 <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
Isoform 1 (identifier: Q8TBY9-1) [UniParc]FASTAAdd to basket
Also known as: T11 Publication

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
MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES
60 70 80 90 100
QEEERKTGEE EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP
110 120 130 140 150
QEVTASMIRL ETQITDSQSI TSGIFPKTQR GSKSKLSLQL EDAETDELLR
160 170 180 190 200
DLSTQIEFLD LDQISPEEQQ ISSPERQPSG ELEEKTDRMP QDELGQERRD
210 220 230 240 250
LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK DKSTPVYPLT
260 270 280 290 300
MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
310 320 330 340 350
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM
360 370 380 390 400
AMAMTHDAKY LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV
410 420 430 440 450
TFNPTNNKEL VSNSKTRAIY YAWYEERDTL AHSAPLLTEK TFNKLVGKFS
460 470 480 490 500
QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS SASTFLGFPY IKPCKLVHLQ
510 520 530 540 550
KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK LGAIRTLSFS
560 570 580 590 600
KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
610 620 630 640 650
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL
660 670 680 690 700
GVQSLTYNPE GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS
710 720 730 740 750
FSHDSQYMAT ADRSFTVAVY MLVVRNGQRV WEYLARLRSH RKSIRSLLFG
760 770 780 790 800
VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD HLEVLDIHHT DQGCYPTCMV
810 820 830 840 850
WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG SPIEQTQVLP
860 870 880 890 900
VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
910 920 930 940 950
YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG
960 970 980 990 1000
KFYRELEDYF YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE
1010 1020 1030 1040 1050
EKIDDIFNEI KFGEYVDTGK LIDKINLPDF LKVYLNHKPP FGNTMSGIHK
1060 1070 1080 1090 1100
SFEVLGYTNS KGKKAIRRED FLRLLVTKGE HMTEEEMLDC FASLFGLNPE
1110 1120 1130 1140
GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI SEDSGQDGQ
Length:1,149
Mass (Da):129,952
Last modified:November 30, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCFC47771F6A71BB2
GO
Isoform 2 (identifier: Q8TBY9-2) [UniParc]FASTAAdd to basket
Also known as: T21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     925-941: VLEAAVSLGGEDLTPFY → HPGSQAPILSPSDTSRS
     942-1149: Missing.

Note: No experimental confirmation available.
Show »
Length:941
Mass (Da):106,305
Checksum:iE7651CDF6E7527B8
GO
Isoform 3 (identifier: Q8TBY9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-370: GHANIISCLC...LATISDAEVQ → VCRDFLPTGG...LTKQQLILIL
     371-1149: Missing.

Note: No experimental confirmation available.
Show »
Length:370
Mass (Da):42,322
Checksum:iE36F6D4BB152DC02
GO

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 conflicti62G → GEEEEK in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti62G → GEEEEK in AAH36233 (PubMed:15489334).Curated1
Sequence conflicti189M → I in AK097102 (PubMed:14702039).Curated1
Sequence conflicti650L → F in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti650L → F in CAD38786 (PubMed:17974005).Curated1
Sequence conflicti810F → L in AAH36233 (PubMed:15489334).Curated1
Sequence conflicti870V → L in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti870V → L in CAD38786 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03462361E → G. Corresponds to variant dbSNP:rs12824001Ensembl.1
Natural variantiVAR_06004466G → E. Corresponds to variant dbSNP:rs12824001Ensembl.1
Natural variantiVAR_081181111 – 1149Missing in SPGF33. 1 PublicationCorresponds to variant dbSNP:rs199671406Add BLAST1039
Natural variantiVAR_034624383T → M. Corresponds to variant dbSNP:rs34768683Ensembl.1
Natural variantiVAR_034625445L → F. Corresponds to variant dbSNP:rs11043265Ensembl.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_027165297 – 370GHANI…DAEVQ → VCRDFLPTGGGVVFNVRVVF CFVSQGLTSFYHCRIFPLSL ELKASLSLETHGIVYCLSVS NQNQLTKQQLILIL in isoform 3. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_027166371 – 1149Missing in isoform 3. 1 PublicationAdd BLAST779
Alternative sequenceiVSP_027167925 – 941VLEAA…LTPFY → HPGSQAPILSPSDTSRS in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_027168942 – 1149Missing in isoform 2. 1 PublicationAdd BLAST208

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
AC069503 Genomic DNA No translation available.
BC028421 mRNA Translation: AAH28421.1
BC036233 mRNA Translation: AAH36233.1
AK097102 mRNA No translation available.
AL833930 mRNA Translation: CAD38786.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41853.1 [Q8TBY9-1]
CCDS53840.1 [Q8TBY9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001171474.1, NM_001178003.1 [Q8TBY9-2]
NP_653269.3, NM_144668.5 [Q8TBY9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000288912; ENSP00000288912; ENSG00000158023 [Q8TBY9-1]
ENST00000397454; ENSP00000380595; ENSG00000158023 [Q8TBY9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
144406

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:144406

UCSC genome browser

More...
UCSCi
uc009zxk.4 human [Q8TBY9-1]

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
AC069503 Genomic DNA No translation available.
BC028421 mRNA Translation: AAH28421.1
BC036233 mRNA Translation: AAH36233.1
AK097102 mRNA No translation available.
AL833930 mRNA Translation: CAD38786.1
CCDSiCCDS41853.1 [Q8TBY9-1]
CCDS53840.1 [Q8TBY9-2]
RefSeqiNP_001171474.1, NM_001178003.1 [Q8TBY9-2]
NP_653269.3, NM_144668.5 [Q8TBY9-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi126850, 3 interactors
IntActiQ8TBY9, 1 interactor
STRINGi9606.ENSP00000288912

PTM databases

iPTMnetiQ8TBY9
PhosphoSitePlusiQ8TBY9

Polymorphism and mutation databases

BioMutaiWDR66
DMDMi313104048

Proteomic databases

MassIVEiQ8TBY9
PaxDbiQ8TBY9
PeptideAtlasiQ8TBY9
PRIDEiQ8TBY9
ProteomicsDBi74051 [Q8TBY9-1]
74052 [Q8TBY9-2]
74053 [Q8TBY9-3]

Genome annotation databases

EnsembliENST00000288912; ENSP00000288912; ENSG00000158023 [Q8TBY9-1]
ENST00000397454; ENSP00000380595; ENSG00000158023 [Q8TBY9-2]
GeneIDi144406
KEGGihsa:144406
UCSCiuc009zxk.4 human [Q8TBY9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
144406
DisGeNETi144406

GeneCards: human genes, protein and diseases

More...
GeneCardsi
WDR66
HGNCiHGNC:28506 WDR66
HPAiHPA039902
HPA040005
MalaCardsiWDR66
MIMi618146 gene
618152 phenotype
neXtProtiNX_Q8TBY9
OpenTargetsiENSG00000158023
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA142670599

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410JR21 Eukaryota
ENOG410XQRH LUCA
GeneTreeiENSGT00390000013370
HOGENOMiHOG000067979
InParanoidiQ8TBY9
OMAiIKLYVNH
OrthoDBi169738at2759
PhylomeDBiQ8TBY9
TreeFamiTF328993

Enzyme and pathway databases

SignaLinkiQ8TBY9

Miscellaneous databases

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

More...
GenomeRNAii
144406
PharosiQ8TBY9

Protein Ontology

More...
PROi
PR:Q8TBY9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158023 Expressed in 112 organ(s), highest expression level in right uterine tube
GenevisibleiQ8TBY9 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011047 Quinoprotein_ADH-like_supfam
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 9 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF50978 SSF50978, 1 hit
SSF50998 SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiCF251_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: Q8TBY9
Secondary accession number(s): C9J1W2
, Q8IYA3, Q8N898, Q8NDE7
<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: July 24, 2007
Last sequence update: November 30, 2010
Last modified: October 16, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again