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WDR44 Gene

protein-coding   GIFtS: 51
GCID: GC0XP117480

WD Repeat Domain 44

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WD Repeat Domain 441 2
RAB11BP2
RPH112
rabphilin-112
WD Repeat-Containing Protein 442
Rabphilin-113

External Ids:    HGNC: 305121   Entrez Gene: 545212   Ensembl: ENSG000001317257   UniProtKB: Q5JSH33   

Export aliases for WDR44 gene to outside databases

Previous GC identifers: GC0XP117261 GC0XP117364 GC0XP106974


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WDR44 Gene:
This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the
GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing
results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for WDR44 Gene:
WDR44 (WD repeat domain 44) is a protein-coding gene. An important paralog of this gene is AHI1.

UniProtKB/Swiss-Prot: WDR44_HUMAN, Q5JSH3
Function: Downstream effector for RAB11. May be involved in vesicle recycling (By similarity)

Gene Wiki entry for WDR44 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the WDR44 gene promoter:
         Brachyury   MEF-2   MyoD   E47   MEF-2A   E2F   E2F-1   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR44 promoter sequence
   Search Chromatin IP Primers for WDR44

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR44


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

WDR44 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR44 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP117480:  view genomic region     (about GC identifiers)

Start:
117,480,036 bp from pter      End:
117,583,924 bp from pter
Size:
103,889 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: WDR44_HUMAN, Q5JSH3 (See protein sequence)
Recommended Name: WD repeat-containing protein 44  
Size: 913 amino acids; 101366 Da
Subunit: Interacts with the GTP-bound form of RAB11 when membrane-associated. Does not bind to other Rab and Rho
small G proteins (By similarity)
Sequence caution: Sequence=BAA92015.1; Type=Frameshift; Positions=792; Sequence=BAC03799.1; Type=Erroneous
initiation;
Secondary accessions: B4DSE9 F8W913 Q0JS52 Q0JTF3 Q5JSH2 Q6ZSC1 Q7Z365 Q7Z3P6 Q8NAU8 Q8NHU5
Q9NUV4
Alternative splicing: 4 isoforms:  Q5JSH3-1   Q5JSH3-2   Q5JSH3-3   Q5JSH3-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WDR44: NX_Q5JSH3

Explore proteomics data for WDR44 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys518, Lys756
  • Modification sites at PhosphoSitePlus

  • See WDR44 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171894.1  NP_001171895.1  NP_061918.3  

    ENSEMBL proteins: 
     ENSP00000254029   ENSP00000360890   ENSP00000360914   ENSP00000360887  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5JSH3

    ProtoNet protein and cluster: Q5JSH3

    UniProtKB/Swiss-Prot: WDR44_HUMAN, Q5JSH3
    Similarity: Contains 7 WD repeats


    Find genes that share domains with WDR44           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WDR44_HUMAN, Q5JSH3
    Function: Downstream effector for RAB11. May be involved in vesicle recycling (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with WDR44           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Wdr44):
     normal 

    Find genes that share phenotypes with WDR44           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for WDR44

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    miRTarBase miRNAs that target WDR44:
    hsa-mir-192-5p (MIRT004133)

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    Selected qRT-PCR Assays for microRNAs that regulate WDR44 (see all 51):
    hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-miR-4272 hsa-miR-30d hsa-miR-218 hsa-miR-192 hsa-miR-30a
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WDR44_HUMAN, Q5JSH3: Cytoplasm, cytosol. Cytoplasm, perinuclear region. Endosome membrane. Golgi apparatus,
    trans-Golgi network. Note=Colocalized with RAB11 along microtubules oriented toward lamellipodia (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    golgi apparatus3
    nucleus3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--
    GO:0010008endosome membrane IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with WDR44           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR44
    Interactions:

        Search GeneGlobe Interaction Network for WDR44

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for WDR44 (Q5JSH33 ENSP000002540294) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB11AP624913, ENSP000002618904I2D: score=1 STRING: ENSP00000261890
    GRB2P629933, ENSP000003390074I2D: score=3 STRING: ENSP00000339007
    ASH2LENSP000003408964STRING: ENSP00000340896
    RBBP5ENSP000002645154STRING: ENSP00000264515
    SEC13ENSP000003121224STRING: ENSP00000312122
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WDR44

    1 HMDB Compound for WDR44    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WDR44 gene (3 alternative transcripts): 
    NM_001184965.1  NM_001184966.1  NM_019045.4  

    Unigene Cluster for WDR44:

    WD repeat domain 44
    Hs.98510  [show with all ESTs]
    Unigene Representative Sequence: NM_019045
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254029(uc004eqn.3 uc004eqo.3 uc010nqi.3) ENST00000371825
    ENST00000493448 ENST00000371848 ENST00000371822(uc011mtr.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WDR44 (see all 51):
    hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-miR-4272 hsa-miR-30d hsa-miR-218 hsa-miR-192 hsa-miR-30a
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      QuantiTect SYBR Green Assays in human, mouse, rat WDR44
      QuantiFast Probe-based Assays in human, mouse, rat WDR44

    Additional mRNA sequence: 

    AK001978.1 AK092077.1 AK127556.1 AK299711.1 AK304432.1 AL833605.1 AL834210.1 BC013924.1 
    BC028697.2 BX537578.1 BX538087.1 BX648150.1 

    7 DOTS entries:

    DT.107510  DT.100727267  DT.91758262  DT.433975  DT.100021894  DT.121324138  DT.99947417 

    Selected AceView cDNA sequences (see all 81):

    AW148385 BQ921584 AK092077 AI074635 AW611931 BX538087 BC013924 AA767059 
    AA426298 BX280516 AL833605 BX648150 BC028697 AI627346 AA259020 NM_019045 
    AW139472 BX470418 BU567735 BX485889 BF115809 AW136865 AK001978 CF890924 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WDR44 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22
    SP1:                                                                                                                                                  -         
    SP2:                                                                                                                                -                 -         
    SP3:                                                                                                                                                            
    SP4:                                                                    -     -                                                                                 
    SP5:        -                                                                                                                                                   


    ECgene alternative splicing isoforms for WDR44

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WDR44 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTTGATGG
    WDR44 Expression
    About this image

    WDR44 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR44 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98510
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for WDR44 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr441 , 5 WD repeat domain 441, 5 90.53(n)1
    92.32(a)1
      X (17.36 cM)5
    724041  NM_175180.21  NP_780389.21 
     236930515 
    chicken
    (Gallus gallus)
    Aves WDR441 WD repeat domain 44 76.53(n)
    80.91(a)
      422227  NM_001012884.2  NP_001012902.2 
    lizard
    (Anolis carolinensis)
    Reptilia WDR446
    WD repeat domain 44
    75(a)
    1 ↔ 1
    GL343403.1(152301-185988)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.240562 Xenopus laevis transcribed sequence with weak similarity more 79.52(n)    CB201305.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj86d112 Transcribed sequence with weak similarity to protein more 77.19(n)    BQ074198.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341336
    --
    31(a)
    1 ↔ 1
    3R(25695087-25700912)
    worm
    (Caenorhabditis elegans)
    Secernentea sym-46
    Protein SYM-4 (sym-4) mRNA, complete cds
    25(a)
    1 ↔ 1
    X(14164638-14169699) WBGene00006369
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YMR102C)4 Protein of unknown function; transcription is activated more   --   13(472352-469848) 855128  NP_013820.1 


    ENSEMBL Gene Tree for WDR44 (if available)
    TreeFam Gene Tree for WDR44 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WDR44 gene
    AHI12  
    1 SIMAP similar gene for WDR44 using alignment to 3 protein entries:     WDR44_HUMAN (see all proteins):
    DKFZp761M142

    Find genes that share paralogs with WDR44           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WDR44 (see all 1479)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1861570591,2
    --117473322(+) GTTTTG/TTGTGT 3 -- us2k10--------
    rs1481858641,2
    --117473446(+) TCCACA/GGTAGT 3 -- us2k10--------
    rs1909146341,2
    --117473571(+) TGCCTC/GGGCCT 3 -- us2k10--------
    rs23869811,2
    C,F--117473595(+) GATTAC/TGGGCG 3 -- us2k15Minor allele frequency- T:0.44NA WA CSA 9
    rs1832875521,2
    --117473728(+) TTTCCA/GTAAAT 3 -- us2k10--------
    rs66461691,2
    C,F,H--117473952(+) CTCCAA/GTTCTG 3 -- us2k117Minor allele frequency- G:0.24NS EA NA WA CSA 1979
    rs59035211,2
    C--117473990(+) TTCTG-/TTTTTT 3 -- us2k1 trp30--------
    rs66461701,2
    C--117474029(+) AAATAC/GATCTA 3 -- us2k13Minor allele frequency- G:0.20WA CSA 5
    rs1886292911,2
    --117474104(+) TATCCC/GGTATG 3 -- us2k10--------
    rs123909241,2
    C--117474286(+) TCCAGC/TTTCTC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for WDR44 (117480036 - 117583924 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for WDR44:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv527n21CNV Gain19592680
    nsv522227CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): WDR44

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with WDR44           About GenesLikeMe

    Genetic Association Database (GAD): WDR44
    Human Genome Epidemiology (HuGE) Navigator: WDR44 (1 document)

    Export disorders for WDR44 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for WDR44 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with WDR44)
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    1. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover. (PubMed id 24035498)1 Tan M.K....Harper J.W. (Mol. Cell 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54521 HGNC: 30512 AceView: WDR44 Ensembl:ENSG00000131725 euGenes: HUgn54521
    ECgene: WDR44 H-InvDB: WDR44

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for WDR44 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WDR44 gene:
    Search GeneIP for patents involving WDR44

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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