WDR1

WDR1
Identifiers
Aliases	WDR1, AIP1, HEL-S-52, NORI-1, WD repeat domain 1, PFITS
External IDs	OMIM: 604734; MGI: 1337100; GeneCards: WDR1
Gene location (Human)
Chr.	Chromosome 4 (human)
End	10,116,949 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	38,720,564 bp
RNA expression pattern
	Top expressed in
	popliteal artery; ; tibial arteries; ; smooth muscle tissue; ; right coronary artery; ; body of uterus; ; saphenous vein; ; stromal cell of endometrium; ; parotid gland; ; thoracic aorta; ; mucosa of sigmoid colon;
	Top expressed in
	ankle joint; ; granulocyte; ; mesenteric lymph nodes; ; stroma of bone marrow; ; transitional epithelium of urinary bladder; ; corneal stroma; ; mucous cell of stomach; ; tibiofemoral joint; ; left colon; ; molar;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	actin binding; actin filament binding;
Cellular component	extracellular region; myelin sheath; podosome; cell junction; cell projection; extracellular exosome; cytoskeleton; actin filament; cell-cell junction; cytoplasm; cytosol; cortical actin cytoskeleton; plasma membrane;
Biological process	platelet degranulation; hearing; actin cytoskeleton organization; regulation of ventricular cardiac muscle cell membrane repolarization; regulation of oligodendrocyte differentiation; maintenance of epithelial cell apical/basal polarity; apical junction assembly; regulation of actin filament depolymerization; neutrophil mediated immunity; regulation of cell shape; actin filament fragmentation; platelet formation; positive regulation of actin filament depolymerization; cortical cytoskeleton organization; locomotion; establishment of planar polarity of follicular epithelium; sarcomere organization; neutrophil migration; actin filament depolymerization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9948
	22388
	ENSG00000071127
	ENSMUSG00000005103
	O75083
	O88342
	NM_005112; NM_017491
	NM_011715
	NP_005103; NP_059830
	NP_035845
	Wikidata
View/Edit Human	View/Edit Mouse

WD repeat-containing protein 1, also called Actin-interacting protein 1 (AIP1), is a protein that in humans is encoded by the WDR1 gene. This protein is involved in cytokinesis (the final stage of cell division), and helps induce the disassembly of actin filaments.

Structure

This protein contains 9 WD40 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.

Medical significance

Pathogenic mutations in this gene are associated with immunodeficiency that often manifests as recurring respiratory infections, designated periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS), also called WDR1 deficiency or Lazy leukocyte syndrome. This disorder is inherited in an autosomal recessive manner.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000071127 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005103 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Adler HJ, Winnicki RS, Gong TW, Lomax MI (May 1999). "A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein". Genomics. 56 (1): 59–69. doi:10.1006/geno.1998.5672. PMID 10036186.
1 2 3 "Entrez Gene: WDR1 WD repeat domain 1".
↑ "WD repeat-containing protein 1". UniProt consortium. Retrieved 2026-11-01.
1 2 McKusick VA, Kniffin CL (2020-07-29). "PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME; PFITS". OMIM. Johns Hopkins university. Retrieved 2026-11-01.
↑ Ono S (2018-11-25). "Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation" (PDF). Biochemical and biophysical research communications. 506 (2): 315–22. doi:10.1016/j.bbrc.2017.10.096.

Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Rodal AA, Tetreault JW, Lappalainen P, et al. (1999). "Aip1p interacts with cofilin to disassemble actin filaments". J. Cell Biol. 145 (6): 1251–64. doi:10.1083/jcb.145.6.1251. PMC 2133144. PMID 10366597.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
Fujibuchi T, Abe Y, Takeuchi T, et al. (2005). "AIP1/WDR1 supports mitotic cell rounding". Biochem. Biophys. Res. Commun. 327 (1): 268–75. doi:10.1016/j.bbrc.2004.11.156. PMID 15629458.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000071127 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005103 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10036186-5] Adler HJ, Winnicki RS, Gong TW, Lomax MI (May 1999). "A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein". Genomics. 56 (1): 59–69. doi:10.1006/geno.1998.5672. PMID 10036186.

[entrez-6] 1 2 3 "Entrez Gene: WDR1 WD repeat domain 1".

[7] "WD repeat-containing protein 1". UniProt consortium. Retrieved 2026-11-01.

[omim-8] 1 2 McKusick VA, Kniffin CL (2020-07-29). "PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME; PFITS". OMIM. Johns Hopkins university. Retrieved 2026-11-01.

[9] Ono S (2018-11-25). "Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation" (PDF). Biochemical and biophysical research communications. 506 (2): 315–22. doi:10.1016/j.bbrc.2017.10.096.

WDR1

Structure

Medical significance

References

Further reading