Human Gene WDR1 (uc021xlv.1)
  Description: Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.
RefSeq Summary (NM_017491): This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:10,075,963-10,118,573 Size: 42,611 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr4:10,077,002-10,118,290 Size: 41,289 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:10,075,963-10,118,573)mRNA (may differ from genome)Protein (606 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR1_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 1; AltName: Full=Actin-interacting protein 1; Short=AIP1; AltName: Full=NORI-1;
FUNCTION: Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
SIMILARITY: Belongs to the WD repeat AIP1 family.
SIMILARITY: Contains 11 WD repeats.
SEQUENCE CAUTION: Sequence=AAD05045.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): WDR1
CDC HuGE Published Literature: WDR1
Positive Disease Associations: Exercise Test , serum urate , serum uric acid , Triglycerides , Uric Acid
Related Studies:
  1. Exercise Test
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  2. serum urate
    Wallace ,et al. 2008, Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia, American journal of human genetics 2008 82- 1 : 139-49. [PubMed 18179892]
  3. serum uric acid
    McArdle ,et al. 2008, Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish, Arthritis and rheumatism 2008 58- 9 : 2874-81. [PubMed 18759275]
    Our findings indicate that GLUT9, which is expressed in the kidney, may be a novel regulator of uric acid elimination and that a common nonsynonymous variant in this gene contributes to abnormalities in uric acid homeostasis and gout.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 102.17 RPKM in Artery - Tibial
Total median expression: 1966.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.00283-0.548 Picture PostScript Text
3' UTR -308.731039-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on O75083
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
   Gene DetailsGene DetailsGene Details
   Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0051015 actin filament binding

Biological Process:
GO:0002446 neutrophil mediated immunity
GO:0002576 platelet degranulation
GO:0007605 sensory perception of sound
GO:0008360 regulation of cell shape
GO:0030036 actin cytoskeleton organization
GO:0030043 actin filament fragmentation
GO:0030220 platelet formation
GO:0030834 regulation of actin filament depolymerization
GO:0030836 positive regulation of actin filament depolymerization
GO:0030865 cortical cytoskeleton organization
GO:0040011 locomotion
GO:0042247 establishment of planar polarity of follicular epithelium
GO:0043297 apical junction assembly
GO:0045199 maintenance of epithelial cell apical/basal polarity
GO:0045214 sarcomere organization
GO:0048713 regulation of oligodendrocyte differentiation
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:1990266 neutrophil migration

Cellular Component:
GO:0002102 podosome
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0030054 cell junction
GO:0030864 cortical actin cytoskeleton
GO:0042643 actomyosin, actin portion
GO:0042995 cell projection
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC002489 - Homo sapiens WD repeat domain 1, mRNA (cDNA clone MGC:1382 IMAGE:3051319), complete cds.
EU794675 - Homo sapiens epididymis secretory protein Li 52 (HEL-S-52) mRNA, complete cds.
AF274954 - Homo sapiens PNAS-29 mRNA, complete cds.
AL050108 - Homo sapiens mRNA; cDNA DKFZp586I2219 (from clone DKFZp586I2219).
BC000201 - Homo sapiens WD repeat domain 1, mRNA (cDNA clone MGC:3118 IMAGE:3351638), complete cds.
AF020056 - Homo sapiens WDR1 protein mRNA, complete cds.
AF020260 - Homo sapiens WDR1 protein mRNA, complete cds.
AK127665 - Homo sapiens cDNA FLJ45763 fis, clone N1ESE2000698, highly similar to WD repeat protein 1.
AB209746 - Homo sapiens mRNA for WD repeat-containing protein 1 isoform 1 variant protein.
AK225276 - Homo sapiens mRNA for WD repeat-containing protein 1 isoform 1 variant, clone: HEP00464.
AB010427 - Homo sapiens mRNA for NORI-1, complete cds.
BX648190 - Homo sapiens mRNA; cDNA DKFZp686J1427 (from clone DKFZp686J1427).
BC030541 - Homo sapiens WD repeat domain 1, mRNA (cDNA clone MGC:40281 IMAGE:4403484), complete cds.
AK222764 - Homo sapiens mRNA for WD repeat-containing protein 1 isoform 1 variant, clone: HEP00464.
AK222897 - Homo sapiens mRNA for WD repeat-containing protein 1 isoform 1 variant, clone: HRC01041.
AK302209 - Homo sapiens cDNA FLJ58303 complete cds, highly similar to WD repeat protein 1.
AK291614 - Homo sapiens cDNA FLJ76314 complete cds, highly similar to Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.
KJ898122 - Synthetic construct Homo sapiens clone ccsbBroadEn_07516 WDR1 gene, encodes complete protein.
KJ898123 - Synthetic construct Homo sapiens clone ccsbBroadEn_07517 WDR1 gene, encodes complete protein.
AB385044 - Synthetic construct DNA, clone: pF1KB5109, Homo sapiens WDR1 gene for WD repeat protein 1, complete cds, without stop codon, in Flexi system.
AK303132 - Homo sapiens cDNA FLJ59130 complete cds, moderately similar to Homo sapiens WD repeat domain 1 (WDR1), transcript variant 2, mRNA.
AK299602 - Homo sapiens cDNA FLJ57081 complete cds, moderately similar to WD repeat protein 1.
CU674086 - Synthetic construct Homo sapiens gateway clone IMAGE:100017736 5' read WDR1 mRNA.
CU677992 - Synthetic construct Homo sapiens gateway clone IMAGE:100017424 5' read WDR1 mRNA.
AL110208 - Homo sapiens mRNA; cDNA DKFZp586P1922 (from clone DKFZp586P1922).
L32559 - Homo sapiens (clone tec10) mRNA.
JD061642 - Sequence 42666 from Patent EP1572962.
JD412360 - Sequence 393384 from Patent EP1572962.
JD067088 - Sequence 48112 from Patent EP1572962.
JD271870 - Sequence 252894 from Patent EP1572962.
JD136639 - Sequence 117663 from Patent EP1572962.
JD554871 - Sequence 535895 from Patent EP1572962.
JD243869 - Sequence 224893 from Patent EP1572962.
JD427876 - Sequence 408900 from Patent EP1572962.
JD062294 - Sequence 43318 from Patent EP1572962.
JD323973 - Sequence 304997 from Patent EP1572962.
JD360859 - Sequence 341883 from Patent EP1572962.
JD503802 - Sequence 484826 from Patent EP1572962.
JD109994 - Sequence 91018 from Patent EP1572962.
JD453523 - Sequence 434547 from Patent EP1572962.
JD191006 - Sequence 172030 from Patent EP1572962.
JD084693 - Sequence 65717 from Patent EP1572962.
JD385004 - Sequence 366028 from Patent EP1572962.
JD192145 - Sequence 173169 from Patent EP1572962.
JD193346 - Sequence 174370 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75083 (Reactome details) participates in the following event(s):

R-HSA-482772 Release of platelet cytosolic components
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6E9, A8MPU4, NM_017491, NP_059830, O75083, O75313, Q8N6E5, Q9UG05, Q9UG78, Q9UQE0, WDR1_HUMAN
UCSC ID: uc021xlv.1
RefSeq Accession: NM_017491
Protein: O75083 (aka WDR1_HUMAN)
CCDS: CCDS54740.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017491.3
exon count: 15CDS single in 3' UTR: no RNA size: 3160
ORF size: 1821CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3591.00frame shift in genome: no % Coverage: 99.40
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.