Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54521
Gene name	WD repeat domain 44
Gene symbol	WDR44
Synonyms (NCBI Gene)	RAB11BPRPH11SYM-4
Chromosome	X
Chromosome location	Xq24
Summary	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.

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004133	hsa-miR-192-5p	Microarray	16822819
MIRT1490673	hsa-miR-1276	CLIP-seq
MIRT1490674	hsa-miR-3065-5p	CLIP-seq
MIRT1490675	hsa-miR-3671	CLIP-seq
MIRT1490676	hsa-miR-369-3p	CLIP-seq
MIRT1490677	hsa-miR-374c	CLIP-seq
MIRT1490678	hsa-miR-421	CLIP-seq
MIRT1490679	hsa-miR-4252	CLIP-seq
MIRT1490680	hsa-miR-4272	CLIP-seq
MIRT1490681	hsa-miR-4775	CLIP-seq
MIRT1490682	hsa-miR-590-3p	CLIP-seq
MIRT1490683	hsa-miR-607	CLIP-seq
MIRT1490684	hsa-miR-655	CLIP-seq
MIRT1490685	hsa-miR-4264	CLIP-seq
MIRT1490686	hsa-miR-4704-3p	CLIP-seq
MIRT1490687	hsa-miR-1254	CLIP-seq
MIRT1490688	hsa-miR-190	CLIP-seq
MIRT1490689	hsa-miR-190b	CLIP-seq
MIRT1490690	hsa-miR-3116	CLIP-seq
MIRT1490691	hsa-miR-4293	CLIP-seq
MIRT1490692	hsa-miR-4307	CLIP-seq
MIRT1490693	hsa-miR-4328	CLIP-seq
MIRT1490694	hsa-miR-567	CLIP-seq
MIRT1490695	hsa-miR-596	CLIP-seq
MIRT1490673	hsa-miR-1276	CLIP-seq
MIRT1490674	hsa-miR-3065-5p	CLIP-seq
MIRT1490679	hsa-miR-4252	CLIP-seq
MIRT2661962	hsa-miR-124	CLIP-seq
MIRT2661963	hsa-miR-1261	CLIP-seq
MIRT2661964	hsa-miR-155	CLIP-seq
MIRT2661965	hsa-miR-186	CLIP-seq
MIRT2661966	hsa-miR-3133	CLIP-seq
MIRT2661967	hsa-miR-3607-5p	CLIP-seq
MIRT2661968	hsa-miR-3613-3p	CLIP-seq
MIRT2661969	hsa-miR-3647-3p	CLIP-seq
MIRT2661970	hsa-miR-3664-5p	CLIP-seq
MIRT2661971	hsa-miR-371-5p	CLIP-seq
MIRT2661972	hsa-miR-371b-5p	CLIP-seq
MIRT2661973	hsa-miR-3907	CLIP-seq
MIRT2661974	hsa-miR-4474-3p	CLIP-seq
MIRT2661975	hsa-miR-4666-5p	CLIP-seq
MIRT2661976	hsa-miR-4760-5p	CLIP-seq
MIRT2661977	hsa-miR-4764-3p	CLIP-seq
MIRT1490681	hsa-miR-4775	CLIP-seq
MIRT2661978	hsa-miR-483-3p	CLIP-seq
MIRT2661979	hsa-miR-490-5p	CLIP-seq
MIRT2661980	hsa-miR-506	CLIP-seq
MIRT2661981	hsa-miR-548an	CLIP-seq
MIRT2661982	hsa-miR-548q	CLIP-seq
MIRT1490682	hsa-miR-590-3p	CLIP-seq
MIRT2661983	hsa-miR-618	CLIP-seq
MIRT2661984	hsa-miR-656	CLIP-seq
MIRT2661985	hsa-miR-889	CLIP-seq
MIRT2661962	hsa-miR-124	CLIP-seq
MIRT2661964	hsa-miR-155	CLIP-seq
MIRT2661967	hsa-miR-3607-5p	CLIP-seq
MIRT2661970	hsa-miR-3664-5p	CLIP-seq
MIRT2661974	hsa-miR-4474-3p	CLIP-seq
MIRT2661975	hsa-miR-4666-5p	CLIP-seq
MIRT2661976	hsa-miR-4760-5p	CLIP-seq
MIRT2661977	hsa-miR-4764-3p	CLIP-seq
MIRT1490681	hsa-miR-4775	CLIP-seq
MIRT2661978	hsa-miR-483-3p	CLIP-seq
MIRT2661980	hsa-miR-506	CLIP-seq
MIRT2661981	hsa-miR-548an	CLIP-seq
MIRT1490682	hsa-miR-590-3p	CLIP-seq
MIRT2661983	hsa-miR-618	CLIP-seq
MIRT2661984	hsa-miR-656	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	31204173, 32344433, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0010008	Component	Endosome membrane	IDA	32344433
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	31204173
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	25673879
GO:0045724	Process	Positive regulation of cilium assembly	IDA	26258637
GO:0045724	Process	Positive regulation of cilium assembly	IMP	25673879, 31204173
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060627	Process	Regulation of vesicle-mediated transport	IMP	31204173
GO:0061512	Process	Protein localization to cilium	IMP	25673879
GO:0061824	Process	Cytosolic ciliogenesis	IMP	31204173
GO:0140313	Function	Molecular sequestering activity	IMP	31204173
GO:1902018	Process	Negative regulation of cilium assembly	IMP	31204173

MIM	HGNC	e!Ensembl
301070	30512	ENSG00000131725

Q5JSH3

Protein name

WD repeat-containing protein 44 (Rab11-binding protein) (Rab11BP) (Rabphilin-11)

Protein function

Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export (PubMed:31204173, PubMed:32344433). ATK1-mediated phosphorylation of WDR4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	500 → 538	WD domain, G-beta repeat	Repeat
PF00400	WD40	597 → 634	WD domain, G-beta repeat	Repeat
PF00400	WD40	638 → 676	WD domain, G-beta repeat	Repeat
PF00400	WD40	775 → 814	WD domain, G-beta repeat	Repeat

Sequence

MASESDTEEFYDAPEDVHLGGGYPVGSPGKVGLSTFKETENTAYKVGNESPVQELKQDVS
KKIIESIIEESQKVLQLEDDSLDSKGKELSDQATASPIVARTDLSNIPGLLAIDQVLPEE
SQKAESQNTFEETELELKKCFPSDETCEKPVDETTKLTQTSSTEQLNVLETETEVLNKEA
VEVKGGGDVLEPVSSDSLSTKDFAAVEEVAPAKPPRHLTPEPDIVASTKKPVPARPPPPT
NFPPPRPPPPSRPAPPPRKRKSELEFETLKTPDIDVPKENITSDSLLTASMASESTVKDS
QPSLDLASATSGDKIVTAQENGKAPDGQTVAGEVMGPQRPRSNSGRELTDEEILASVMIK
NLDTGEEIPLSLAEEKLPTGINPLTLHIMRRTKEYVSNDAAQSDDEEKLQSQPTDTDGGR
LKQKTTQLKKFLGKSVKRAKHLAEEYGERAINKVKSVRDEVFHTDQDDPSSSDDEGMPYT
RPVKFKAAHGFKGPYDFDQIKVVQDLSGEHMGAVWTMKFSHCGRLLASAGQDNVVRIWAL
KNAFDYFNNMRMKYNTEGRVSPSPSQESLSSSKSDTDTGVCSGTDEDPDDKNAPFRQRPF
CKYKGHTADLLDLSWSKNYFLLSSSMDKTVRLWHISRRECLCCFQHIDFVTAIAFHPRDD
RYFLSGSLDGKLRLWNIPDKKVALWNEVDGQTKLITAANFCQNGKYAVIGTYDGRCIFYD
TEHLKYHTQIHVRSTRGRNKVGRKITGIEPLPGENKILVTSNDSRIRLYDLRDLSLSMKY
KGYVNSSSQIKASFSHDFTYLVSGSEDKYVYIWSTYHDLSKFTSVRRDRNDFWEGIKAHN
AVVTSAIFAPNPSLMLSLDVQSEKSEGNEKSEDAEVLDATPSGIMKTDNTEVLLSADFTG
AIKVFVNKRKNVS

Sequence length

913

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

WDR44 (WD repeat domain 44)