Human Gene WDR5 (ENST00000358625.4_4) from GENCODE V47lift37
  Description: WD repeat domain 5, transcript variant 2 (from RefSeq NM_052821.4)
Gencode Transcript: ENST00000358625.4_4
Gencode Gene: ENSG00000196363.10_8
Transcript (Including UTRs)
   Position: hg19 chr9:137,001,204-137,025,090 Size: 23,887 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr9:137,005,000-137,023,115 Size: 18,116 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:137,001,204-137,025,090)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR5_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 5; AltName: Full=BMP2-induced 3-kb gene protein;
FUNCTION: Contributes to histone modification. May position the N- terminus of histone H3 for efficient trimethylation at 'Lys-4'. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation.
SUBUNIT: Interacts with HCFC1. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (MLL, MLL2/ALR, MLL3 and MLL4/WBP7), and the facultative components PAGR1, C17orf49, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, MYST1/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with MLL and RBBP5; the interaction is direct. Component ofthe ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with KAT2A, MBIP and CSRP2BP. Interacts with histone H3. Interacts with SETD1A.
INTERACTION: P51610:HCFC1; NbExp=4; IntAct=EBI-540834, EBI-396176; Q92794:KAT6A; NbExp=4; IntAct=EBI-540834, EBI-948013; Q03164:MLL; NbExp=11; IntAct=EBI-540834, EBI-591370; Q15291:RBBP5; NbExp=6; IntAct=EBI-540834, EBI-592823;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the WD repeat WDR5/wds family.
SIMILARITY: Contains 7 WD repeats.
SEQUENCE CAUTION: Sequence=CAB66159.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: WDR5
Diseases sorted by gene-association score: kabuki syndrome 1 (4)

-  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: 38.67 RPKM in Testis
Total median expression: 664.11 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.50177-0.415 Picture PostScript Text
3' UTR -832.901975-0.422 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
PF08662 - Eukaryotic translation initiation factor eIF2A
PF12894 - Anaphase-promoting complex subunit 4 WD40 domain

SCOP Domains:
50370 - Ricin B-like lectins
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
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
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50985 - RCC1/BLIP-II
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like
55048 - Probable ACP-binding domain of malonyl-CoA ACP transacylase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CNX - X-ray MuPIT 2CO0 - X-ray MuPIT 2G99 - X-ray MuPIT 2G9A - X-ray MuPIT 2GNQ - X-ray MuPIT 2H13 - X-ray MuPIT 2H14 - X-ray MuPIT 2H68 - X-ray MuPIT 2H6K - X-ray MuPIT 2H6N - X-ray MuPIT 2H6Q - X-ray MuPIT 2H9L - X-ray MuPIT 2H9M - X-ray MuPIT 2H9N - X-ray MuPIT 2H9P - X-ray MuPIT 2O9K - X-ray MuPIT 3EG6 - X-ray MuPIT 3EMH - X-ray MuPIT 3MXX - X-ray MuPIT 3N0D - X-ray MuPIT 3N0E - X-ray MuPIT 3P4F - X-ray MuPIT 3PSL - X-ray MuPIT 3SMR - X-ray MuPIT 3UR4 - X-ray MuPIT 3UVK - X-ray MuPIT 3UVL - X-ray MuPIT 3UVM - X-ray MuPIT 3UVN - X-ray MuPIT 3UVO - X-ray MuPIT 4A7J - X-ray MuPIT 4ERQ - X-ray MuPIT 4ERY - X-ray MuPIT 4ERZ - X-ray MuPIT 4ES0 - X-ray MuPIT 4ESG - X-ray MuPIT 4EWR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61964
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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 orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0018024 histone-lysine N-methyltransferase activity
GO:0035064 methylated histone binding
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0043995 histone acetyltransferase activity (H4-K5 specific)
GO:0043996 histone acetyltransferase activity (H4-K8 specific)
GO:0046972 histone acetyltransferase activity (H4-K16 specific)

Biological Process:
GO:0001501 skeletal system development
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0031175 neuron projection development
GO:0035948 positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter
GO:0043687 post-translational protein modification
GO:0043966 histone H3 acetylation
GO:0043981 histone H4-K5 acetylation
GO:0043982 histone H4-K8 acetylation
GO:0043984 histone H4-K16 acetylation
GO:0045652 regulation of megakaryocyte differentiation
GO:0051568 histone H3-K4 methylation
GO:0060271 cilium assembly

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex
GO:0035097 histone methyltransferase complex
GO:0036064 ciliary basal body
GO:0044666 MLL3/4 complex
GO:0048188 Set1C/COMPASS complex
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  KJ898352 - Synthetic construct Homo sapiens clone ccsbBroadEn_07746 WDR5 gene, encodes complete protein.
BC001635 - Homo sapiens WD repeat domain 5, mRNA (cDNA clone MGC:1025 IMAGE:3538255), complete cds.
AK000552 - Homo sapiens cDNA FLJ20545 fis, clone KAT11476.
AK025810 - Homo sapiens cDNA: FLJ22157 fis, clone HRC00229, highly similar to HSA011376 Homo sapiens mRNA for hypothetical protein (WDR5 gene).
AJ011376 - Homo sapiens mRNA for hypothetical protein (WDR5 gene), partial.
JD396050 - Sequence 377074 from Patent EP1572962.
JD219605 - Sequence 200629 from Patent EP1572962.
JD525988 - Sequence 507012 from Patent EP1572962.
JD525989 - Sequence 507013 from Patent EP1572962.
JD253705 - Sequence 234729 from Patent EP1572962.
AB464354 - Synthetic construct DNA, clone: pF1KB6404, Homo sapiens WDR5 gene for WD repeat domain containing protein 5, without stop codon, in Flexi system.
HQ448239 - Synthetic construct Homo sapiens clone IMAGE:100071640; CCSB003721_03 WD repeat domain 5 (WDR5) gene, encodes complete protein.
CU674800 - Synthetic construct Homo sapiens gateway clone IMAGE:100017036 5' read WDR5 mRNA.
JD261785 - Sequence 242809 from Patent EP1572962.
AK024484 - Homo sapiens mRNA for FLJ00083 protein, partial cds.
JD203733 - Sequence 184757 from Patent EP1572962.
JD024375 - Sequence 5399 from Patent EP1572962.
JD035691 - Sequence 16715 from Patent EP1572962.
JD284100 - Sequence 265124 from Patent EP1572962.
JD502532 - Sequence 483556 from Patent EP1572962.
JD399582 - Sequence 380606 from Patent EP1572962.
BC029769 - Homo sapiens WD repeat domain 5, mRNA (cDNA clone IMAGE:5195095), partial cds.
JD266909 - Sequence 247933 from Patent EP1572962.
JD443570 - Sequence 424594 from Patent EP1572962.
BC015594 - Homo sapiens WD repeat domain 5, mRNA (cDNA clone IMAGE:4647335).
JD020692 - Sequence 1716 from Patent EP1572962.
JD029420 - Sequence 10444 from Patent EP1572962.
JD028646 - Sequence 9670 from Patent EP1572962.
JD020383 - Sequence 1407 from Patent EP1572962.
JD028646 - Sequence 9670 from Patent EP1572962.

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

Protein P61964 (Reactome details) participates in the following event(s):

R-HSA-5225602 WDR5 binds Me2sR3-replicative histone H3
R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
R-HSA-3321805 NSL acetylates histone H4
R-HSA-8955245 CAND1 binds CRL4 E3 ubiquitin ligase in the nucleus
R-HSA-3301237 KAT2 complexes acetylate histone H3
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
R-HSA-5159245 SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)
R-HSA-5244692 Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)
R-HSA-5637686 WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)
R-HSA-8955285 COMMDs displace CAND1 from CRL4 E3 ubiquitin ligase complex
R-HSA-8952639 NEDD8:AcM-UBE2M binds CRL4 E3 ubiquitin ligase complex
R-HSA-8956045 COP9 signalosome deneddylates nuclear CRL4 E3 ubiquitin ligase complex
R-HSA-8952638 AcM-UBE2M transfers NEDD8 to CRL4 E3 ubiquitin ligase complex
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-3214847 HATs acetylate histones
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-5619507 Activation of HOX genes during differentiation
R-HSA-8951664 Neddylation
R-HSA-4839726 Chromatin organization
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-212436 Generic Transcription Pathway
R-HSA-1266738 Developmental Biology
R-HSA-597592 Post-translational protein modification
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-392499 Metabolism of proteins
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: BIG3, ENST00000358625.1, ENST00000358625.2, ENST00000358625.3, NM_052821, P61964, Q91VA5, Q9NWX7, Q9UGP9, uc318aqp.1, uc318aqp.2, WDR5_HUMAN
UCSC ID: ENST00000358625.4_4
RefSeq Accession: NM_017588.3
Protein: P61964 (aka WDR5_HUMAN)

-  Gene Model Information
  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.