WD-40 repeat family: Difference between revisions
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{{AE}} Henry A. Hoff | {{AE}} Henry A. Hoff | ||
{{Pfam_box | |||
| Symbol = WD40 | |||
| Name = WD domain, G-beta repeat | |||
| image = 1erj 7bladed beta propeller.png | |||
| width = | |||
| caption = Ribbon diagram of the C-terminal WD40 domain of Tup1 (a transcriptional [[corepressor (genetics)|corepressor]] in yeast), which adopts a 7-bladed [[beta-propeller]] fold. Ribbon is colored from blue ([[N-terminus]]) to red ([[C-terminus]]).<ref name="pmid10856245">{{PDB|1erj}}; {{cite journal | vauthors = Sprague ER, Redd MJ, Johnson AD, Wolberger C | title = Structure of the C-terminal domain of Tup1, a corepressor of transcription in yeast | journal = EMBO J. | volume = 19 | issue = 12 | pages = 3016–27 |date=June 2000 | pmid = 10856245 | pmc = 203344 | doi = 10.1093/emboj/19.12.3016 }}</ref> | |||
| Pfam = PF00400 | |||
| Pfam_clan = CL0186 | |||
| InterPro = IPR001680 | |||
| SMART = | |||
| PROSITE = PDOC00574 | |||
| SCOP = 1gp2 | |||
| TCDB = | |||
| CDD = cd00200 | |||
| OPM family = | |||
| OPM protein = | |||
| PDB = {{PDB2|1b9x}}, {{PDB2|1b9y}}, {{PDB2|1erj}}, {{PDB2|1gg2}}, {{PDB2|1got}}, {{PDB2|1gp2}}, {{PDB2|1gxr}}, {{PDB2|1nex}}, {{PDB2|1nr0}}, {{PDB2|1omw}}, {{PDB2|1p22}}, {{PDB2|1pev}}, {{PDB2|1pgu}}, {{PDB2|1pi6}}, {{PDB2|1s4u}}, {{PDB2|1sq9}}, {{PDB2|1tbg}}, {{PDB2|1u4c}}, {{PDB2|1xhm}}, {{PDB2|1yfq}}, {{PDB2|2bcj}}, {{PDB2|2ce8}}, {{PDB2|2ce9}}, {{PDB2|2trc}} | |||
}} | |||
"Receptor for activated C kinase (RACK1) is a highly conserved, eukaryotic protein of the WD-40 repeat family. [...] During ''Phaseolus vulgaris'' root development, RACK1 (PvRACK1) mRNA expression was induced by auxins, abscissic acid, cytokinin, and gibberellic acid."<ref name=Flores>{{ cite journal | "Receptor for activated C kinase (RACK1) is a highly conserved, eukaryotic protein of the WD-40 repeat family. [...] During ''Phaseolus vulgaris'' root development, RACK1 (PvRACK1) mRNA expression was induced by auxins, abscissic acid, cytokinin, and gibberellic acid."<ref name=Flores>{{ cite journal | ||
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|pmid= | |pmid= | ||
|accessdate=25 April 2021 }}</ref> | |accessdate=25 April 2021 }}</ref> | ||
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short [[structural motif]] of approximately 40 [[amino acid]]s, often terminating in a [[tryptophan]]-[[aspartic acid]] (W-D) dipeptide.<ref name="pmid8090199">{{cite journal | author = Neer EJ, Schmidt CJ, Nambudripad R, Smith TF | title = The ancient regulatory-protein family of WD-repeat proteins | journal = Nature | volume = 371 | issue = 6495 | pages = 297–300 |date=September 1994 | pmid = 8090199 | doi = 10.1038/371297a0 | bibcode = 1994Natur.371..297N6 }}</ref> | |||
==Structure== | |||
WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised [[beta-propeller]] structure (see figure to the right).<ref name="pmid10322433">{{cite journal | author = Smith TF, Gaitatzes C, Saxena K, Neer EJ | title = The WD40 repeat: a common architecture for diverse functions | journal = Trends Biochem. Sci. | volume = 24 | issue = 5 | pages = 181–5 |date=May 1999 | pmid = 10322433 | doi = 10.1016/S0968-0004(99)01384-5}}</ref><ref name="pmid11814058">{{cite journal | author = Li D, Roberts R | title = WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases | journal = Cell. Mol. Life Sci. | volume = 58 | issue = 14 | pages = 2085–97 |date=December 2001 | pmid = 11814058 | doi = 10.1007/PL00000838 }}</ref> | |||
==Function== | |||
WD40-repeat proteins are a large family found in all [[eukaryote]]s and are implicated in a variety of functions ranging from [[signal transduction]] and [[transcriptional regulation|transcription regulation]] to [[cell cycle]] control, [[autophagy]] and [[apoptosis]].<ref name="pmid20451393">{{cite journal | vauthors = Stirnimann CU, Petsalaki E, Russell RB, Müller CW | title = WD40 proteins propel cellular networks. | journal = Trends Biochem. Sci. | volume = 35 | issue = 10 | pages = 565–74 |date=May 2010 | pmid = 20451393 | doi = 10.1016/j.tibs.2010.04.003}}</ref> The underlying common function of all WD40-repeat proteins is coordinating multi-protein complex assemblies, where the repeating units serve as a rigid [[Scaffold protein|scaffold]] for protein interactions. The specificity of the proteins is determined by the sequences outside the repeats themselves. Examples of such complexes are [[G protein]]s (beta subunit is a beta-propeller), [[general transcription factor|TAFII]] transcription factor, and [[E3 ubiquitin ligase]].<ref name="pmid10322433"/><ref name="pmid11814058"/> | |||
==Protein family== | |||
According to the initial analysis of the human genome WD40 repeats are the eighth largest family of proteins. In all 277 proteins were identified to contain them.<ref name="pmid11237011">{{cite journal |vauthors=Lander ES, Linton LM, Birren B, etal |title=Initial sequencing and analysis of the human genome |journal=Nature |volume=409 |issue=6822 |pages=860–921 |date=February 2001 |pmid=11237011 |doi=10.1038/35057062 |url=https://deepblue.lib.umich.edu/bitstream/2027.42/62798/1/409860a0.pdf }}</ref> Human genes encoding proteins containing this domain include: | |||
* [[AAAS (gene)|AAAS]], [[AAMP (gene)|AAMP]], [[AHI1]], [[AMBRA1]], [[APAF1]], [[ARPC1A]], [[ARPC1B]], [[ATG16L1]], | |||
* [[BOP1]], [[BRWD1]], [[BRWD2]], [[BRWD3]], [[BTRC (gene)|BTRC]], [[BUB3]], | |||
* [[C6orf11]], [[CDC20]], [[CDC40]], [[CDRT1]], [[CHAF1B]], [[CIAO1]], [[CIRH1A]], [[COPA (gene)|COPA]], [[COPB2]], [[CORO1A]], [[CORO1B]], [[CORO1C]], [[CORO2A]], [[CORO2B]], [[CORO6]], [[CORO7]], [[CSTF1]], | |||
* [[DDB2]], [[DENND3]], [[DMWD (gene)|DMWD]], [[DMXL1]], [[DMXL2]], [[DNAI1]], [[DNAI2]], [[DNCI1]], [[DTL]], [[DYNC1I1]], [[DYNC1I2]], [[EDC4]], | |||
* [[EED (protein)|EED]], [[EIF3S2]], [[ELP2]], [[EML1]], [[EML2]], [[EML3]], [[EML4]], [[EML4-ALK]], [[EML5]], [[ERCC8]], | |||
* [[FBXW10]], [[FBXW11]], [[FBXW2]], [[FBXW4]], [[FBXW5]], [[FBXW7]], [[FBXW8]], [[FBXW9]], [[FZR1]], | |||
* GBL, [[GEMIN5]], [[GNB1]], [[GNB1L]], [[GNB2]], [[GNB2L1]], [[GNB3]], [[GNB4]], [[GNB5]], [[GRWD1]], [[GTF3C2]], | |||
* [[HERC1]], [[HIRA]], [[HZGJ]], | |||
* [[IFT121]], [[IFT122]], [[IFT140]], [[IFT172]], [[IFT80]], [[IQWD1]], | |||
* [[KATNB1]], [[KIAA1336]], [[KIF21A]], [[KIF21B]], [[KM-PA-2]], | |||
* [[KEAP1]], | |||
* [[LLGL1]], [[LLGL2]], [[LRBA]], [[LRRK1]], [[LRRK2]], [[LRWD1]], [[LYST]], | |||
* [[MAPKBP1]], [[MED16]], [[MORG1]], | |||
* [[NBEA]], [[NBEAL1]], [[NEDD1]], [[NLE1]], [[NSMAF]], [[NUP37]], [[NUP43]], [[NWD1]], | |||
* [[PAAF1]], [[PAFAH1B1]], [[PAK1IP1]], [[PEX7]], [[PHIP]], [[PIK3R4]], [[PLAA (gene)|PLAA]], [[PLRG1]], [[PPP2R2A]], [[PPP2R2B]], [[PPP2R2C]], [[PPP2R2D]], [[PPWD1]], [[PREB]], [[PRPF19]], [[PRPF4]], [[PWP1]], [[PWP2]], | |||
* [[RAE1]], [[RPTOR]], [[RBBP4]], [[RBBP5]], [[RBBP7]], [[RFWD2]], [[RFWD3]], [[RRP9]], | |||
* [[SREBP cleavage activating protein|SCAP]], [[SEC13]], [[SEC31A]], [[SEC31B]], [[SEH1L]], [[SHKBP1]], [[SMU1]], [[SPAG16]], SPG, [[STRAP]], [[STRN]], [[STRN3]], [[STRN4]], [[STXBP5]], [[STXBP5L]], | |||
* [[TAF5]], [[TAF5L]], [[TBL1X]], [[TBL1XR1]], [[TBL1Y]], [[TBL2]], [[TBL3]], [[TEP1]], [[THOC3]], [[THOC6]], [[TLE1]], [[TLE2]], [[TLE3]], [[TLE4]], [[TLE6]], [[TRAF7]], [[TSSC1]], [[TULP4]], [[TUWD12]], | |||
* [[UTP15]], [[UTP18]], | |||
* [[WAIT1]], [[WDF3]], [[WDFY1]], [[WDFY2]], [[WDFY3]], [[WDFY4]], [[WDHD1]], [[WDR1]], [[WDR10]], [[WDR12]], [[WDR13]], [[WDR16]], [[WDR17]], [[WDR18]], [[WDR19]], [[WDR20]], [[WDR21A]], [[WDR21C]], [[WDR22]], [[WDR23]], [[WDR24]], [[WDR25]], [[WDR26]], [[WDR27]], [[WDR3]], [[WDR31]], [[WDR32]], [[WDR33]], [[WDR34]], [[WDR35]], [[WDR36]], [[WDR37]], [[WDR38]], [[WDR4]], [[WDR40A]], [[WDR40B]], [[WDR40C]], [[WDR41]], [[WDR42A]], [[WDR42B]], [[WDR43]], [[WDR44]], [[WDR46]], [[WDR47]], [[WDR48]], [[WDR49]], [[WDR5]], [[WDR51A]], [[WDR51B]], [[WDR52]], [[WDR53]], [[WDR54]], [[WDR55]], [[WDR57]], [[WDR59]], [[WDR5B]], [[WDR6]], [[WDR60]], [[WDR61]], [[WDR62]], [[WDR63]], [[WDR64]], [[WDR65]], [[WDR66]], [[WDR67]], [[WDR68]], [[WDR69]], [[WDR7]], [[WDR70]], [[WDR72]], [[WDR73]], [[WDR74]], [[WDR75]], [[WDR76]], [[WDR77]], [[WDR78]], [[WDR79]], [[WDR8]], [[WDR81]], [[WDR82]], [[WDR85]], [[WDR86]], [[WDR88]], [[WDR89]], [[WDR90]], [[WDR91]], [[WDR92]], [[WDSOF1]], [[WDSUB1]], [[WDTC1]], [[WSB1]], [[WSB2]], | |||
* [[ZFP106]] | |||
{| class="wikitable" | |||
|+Human WDR genes and associated diseases | |||
|- | |||
! WDR gene !! other gene names !! NCBI Entrez<br> Gene ID !! Human disease associated with mutations | |||
|- | |||
|[[WDR1]]||AIP1; NORI-1; HEL-S-52||9948|| | |||
|- | |||
|WDR2||[[CORO2A]]; IR10; CLIPINB||7464|| | |||
|- | |||
|[[WDR3]]||DIP2; UTP12||10885|| | |||
|- | |||
|[[WDR4]]||TRM82; TRMT82||10785|| | |||
|- | |||
|[[WDR5]]||SWD3; BIG-3; CFAP89||11091|| | |||
|- | |||
|[[WDR6]]||||11180|| | |||
|- | |||
|[[WDR7]]||TRAG; KIAA0541; Rabconnectin 3 beta||23335|| | |||
|- | |||
|[[WDR8]]||[[WRAP73]]||49856|| | |||
|- | |||
|WDR9||[[BRWD1]]; N143; C21orf107||54014|| | |||
|- | |||
|WDR10||[[IFT122]]; CED; SPG; CED1; WDR10p; WDR140||55764||[[Sensenbrenner syndrome]] | |||
|- | |||
|[[WD_repeat-containing_protein_11|WDR11]]||DR11; HH14; BRWD2; WDR15||55717||[[Kallmann syndrome]] | |||
|- | |||
|[[WDR12]]||YTM1||55759|| | |||
|- | |||
|[[WDR13]]||MG21||64743|| | |||
|- | |||
|WDR14||[[GNB1L]]; GY2; FKSG1; WDVCF; DGCRK3||54584|| | |||
|- | |||
|WDR15||[[WDR11]]|| || | |||
|- | |||
|WDR16||[[CFAP52]]; WDRPUH||146845|| | |||
|- | |||
|[[WDR17]]||||116966|| | |||
|- | |||
|[[WDR18]]||Ipi3||57418|| | |||
|- | |||
|[[WDR19]]||ATD5; CED4; DYF-2; ORF26; Oseg6; PWDMP; SRTD5; IFT144; NPHP13||57728||[[Sensenbrenner syndrome]], [[Jeune syndrome]] | |||
|- | |||
|[[WDR20]]||DMR||91833|| | |||
|- | |||
|WDR21||[[DCAF4]]; WDR21A||26094|| | |||
|- | |||
|WDR22||[[DCAF5]]; BCRG2; BCRP2||8816|| | |||
|- | |||
|WDR23||[[DCAF11]]; GL014; PRO2389||80344|| | |||
|- | |||
|[[WDR24]]||JFP7; C16orf21||84219|| | |||
|- | |||
|[[WDR25]]||C14orf67||79446|| | |||
|- | |||
|[[WDR26]]||CDW2; GID7; MIP2||80232|| | |||
|- | |||
|[[WDR27]]||||253769|| | |||
|- | |||
|[[WDR28]]||GRWD1; CDW4; GRWD; RRB1||83743|| | |||
|- | |||
|WDR29||[[SPAG16]]; PF20||79582|| | |||
|- | |||
|WDR30||[[ATG16L1]]; IBD10; APG16L; ATG16A; ATG16L||55054||[[Crohn’s disease]] | |||
|- | |||
|[[WDR31]]||||114987|| | |||
|- | |||
|WDR32||[[DCAF10]]||79269|| | |||
|- | |||
|[[WDR33]]||NET14; WDC146||55339|| | |||
|- | |||
|[[WDR34]]||DIC5; FAP133; SRTD11||89891||[[Jeune syndrome]] | |||
|- | |||
|[[WDR35]]||CED2; IFTA1; SRTD7; IFT121||57539||[[Sensenbrenner syndrome]] | |||
|- | |||
|[[WDR36]]||GLC1G; UTP21; TAWDRP; TA-WDRP||134430||[[Primary Open Angle Glaucoma]] | |||
|- | |||
|[[WDR37]]||||22884|| | |||
|- | |||
|[[WDR38]]||||401551|| | |||
|- | |||
|WDR39||[[CIAO1]]; CIA1||9391|| | |||
|- | |||
|WDR40A||[[DCAF12]]; CT102; TCC52; KIAA1892||25853|| | |||
|- | |||
|[[WDR41]]||MSTP048||55255|| | |||
|- | |||
|[[WDR43]]||UTP5; NET12||23160|| | |||
|- | |||
|[[WDR44]]||RPH11; RAB11BP||54521|| | |||
|- | |||
|[[WDR45]]||JM5; NBIA4; NBIA5; WDRX1; WIPI4; WIPI-4||11152||[[Beta-propeller protein-associated neurodegeneration]] (BPAN) | |||
|- | |||
|[[WDR46]]||UTP7; BING4; FP221; C6orf11||9277|| | |||
|- | |||
|[[WDR47]]||NEMITIN; KIAA0893||22911|| | |||
|- | |||
|[[WDR48]]||P80; UAF1; SPG60||57599|| | |||
|- | |||
|[[WDR49]]||||151790|| | |||
|- | |||
|WDR50||[[UTP18]]; CGI-48||51096|| | |||
|- | |||
|WDR52||[[CFAP44]]||55779|| | |||
|- | |||
|[[WDR53]]||||348793|| | |||
|- | |||
|[[WDR54]]||||84058|| | |||
|- | |||
|[[WDR55]]||||54853|| | |||
|- | |||
|WDR56||[[IFT80]]; ATD2; SRTD2||57560||[[Jeune syndrome]] | |||
|- | |||
|[[WDR57]]||[[SNRNP40]]; SPF38; PRP8BP; HPRP8BP; PRPF8BP||9410|| | |||
|- | |||
|WDR58||[[THOC6]]; BBIS; fSAP35||79228|| | |||
|- | |||
|[[WDR59]]||FP977||79726|| | |||
|- | |||
|[[WDR60]]||SRPS6; SRTD8; FAP163||55112||[[Jeune syndrome]] | |||
|- | |||
|[[WDR61]]||SKI8; REC14||80349|| | |||
|- | |||
|[[WDR62]]||MCPH2; C19orf14||284403||[[microcephaly]] | |||
|- | |||
|[[WDR63]]||DIC3; NYD-SP29||126820|| | |||
|- | |||
|[[WDR64]]||||128025|| | |||
|- | |||
|WDR65||[[CFAP57]]; VWS2||149465||[[Van der Woude syndrome]] | |||
|- | |||
|[[WDR66]]||CaM-IP4||144406|| | |||
|- | |||
|WDR67||[[TBC1D31]]; Gm85||93594|| | |||
|- | |||
|[[WDR68]]||[[DCAF7]]; AN11; HAN11; SWAN-1||10238|| | |||
|- | |||
|WDR69||[[DAW1]]; ODA16||164781|| | |||
|- | |||
|[[WDR70]]||||55100|| | |||
|- | |||
|WDR71||[[PAAF1]]; PAAF; Rpn14||80227|| | |||
|- | |||
|[[WDR72]]||AI2A3||256764||[[Amelogenesis imperfecta]] | |||
|- | |||
|[[WDR73]]||HSPC264||84942|| | |||
|- | |||
|[[WDR74]]||||54663|| | |||
|- | |||
|[[WDR75]]||NET16; UTP17 ||84128|| | |||
|- | |||
|[[WDR76]]||CDW14||79968|| | |||
|- | |||
|[[WDR77]]||p44; MEP50; MEP-50; HKMT1069; Nbla10071; p44/Mep50||79084 | |||
|- | |||
|[[WDR78]]||DIC4||79819|| | |||
|- | |||
|WDR79||[[WRAP53]]; DKCB3; TCAB1||55135|| | |||
|- | |||
|WDR80||[[ATG16L]]; ATG16B||89849|| | |||
|- | |||
|[[WDR81]]||CAMRQ2; PPP1R166||124997||[[cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2]] | |||
|- | |||
|[[WDR82]]||SWD2; MST107; WDR82A; MSTP107; PRO2730; TMEM113; PRO34047||80335|| | |||
|- | |||
|[[WDR83]]||MORG1||84292|| | |||
|- | |||
|WDR84||[[PAK1IP1]]; PIP1; MAK11||55003|| | |||
|- | |||
|WDR85||[[DPH7]]; RRT2; C9orf112||92715|| | |||
|- | |||
|[[WDR86]]||||349136|| | |||
|- | |||
|[[WDR87]]||NYD-SP11||83889|| | |||
|- | |||
|[[WDR88]]||PQWD||126248|| | |||
|- | |||
|[[WDR89]]||MSTP050; C14orf150||112840|| | |||
|- | |||
|[[WDR90]]||C16orf15; C16orf16; C16orf17; C16orf18; C16orf19||197335|| | |||
|- | |||
|[[WDR91]]||HSPC049||29062|| | |||
|- | |||
|[[WDR92]]||MONAD||116143|| | |||
|- | |||
|[[WDR93]]||||56964|| | |||
|- | |||
|WDR94||[[AMBRA1]]; DCAF3||55626|| | |||
|- | |||
|WDR96||[[CFAP43]]; C10orf79||80217|| | |||
|} | |||
==Hypotheses== | ==Hypotheses== |
Latest revision as of 23:22, 21 August 2021
Associate Editor(s)-in-Chief: Henry A. Hoff
WD domain, G-beta repeat | |||||||||
---|---|---|---|---|---|---|---|---|---|
File:1erj 7bladed beta propeller.png Ribbon diagram of the C-terminal WD40 domain of Tup1 (a transcriptional corepressor in yeast), which adopts a 7-bladed beta-propeller fold. Ribbon is colored from blue (N-terminus) to red (C-terminus).[1] | |||||||||
Identifiers | |||||||||
Symbol | WD40 | ||||||||
Pfam | PF00400 | ||||||||
Pfam clan | CL0186 | ||||||||
InterPro | IPR001680 | ||||||||
PROSITE | PDOC00574 | ||||||||
SCOP | 1gp2 | ||||||||
SUPERFAMILY | 1gp2 | ||||||||
CDD | cd00200 | ||||||||
|
"Receptor for activated C kinase (RACK1) is a highly conserved, eukaryotic protein of the WD-40 repeat family. [...] During Phaseolus vulgaris root development, RACK1 (PvRACK1) mRNA expression was induced by auxins, abscissic acid, cytokinin, and gibberellic acid."[2]
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide.[3]
Structure
WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised beta-propeller structure (see figure to the right).[4][5]
Function
WD40-repeat proteins are a large family found in all eukaryotes and are implicated in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control, autophagy and apoptosis.[6] The underlying common function of all WD40-repeat proteins is coordinating multi-protein complex assemblies, where the repeating units serve as a rigid scaffold for protein interactions. The specificity of the proteins is determined by the sequences outside the repeats themselves. Examples of such complexes are G proteins (beta subunit is a beta-propeller), TAFII transcription factor, and E3 ubiquitin ligase.[4][5]
Protein family
According to the initial analysis of the human genome WD40 repeats are the eighth largest family of proteins. In all 277 proteins were identified to contain them.[7] Human genes encoding proteins containing this domain include:
- AAAS, AAMP, AHI1, AMBRA1, APAF1, ARPC1A, ARPC1B, ATG16L1,
- BOP1, BRWD1, BRWD2, BRWD3, BTRC, BUB3,
- C6orf11, CDC20, CDC40, CDRT1, CHAF1B, CIAO1, CIRH1A, COPA, COPB2, CORO1A, CORO1B, CORO1C, CORO2A, CORO2B, CORO6, CORO7, CSTF1,
- DDB2, DENND3, DMWD, DMXL1, DMXL2, DNAI1, DNAI2, DNCI1, DTL, DYNC1I1, DYNC1I2, EDC4,
- EED, EIF3S2, ELP2, EML1, EML2, EML3, EML4, EML4-ALK, EML5, ERCC8,
- FBXW10, FBXW11, FBXW2, FBXW4, FBXW5, FBXW7, FBXW8, FBXW9, FZR1,
- GBL, GEMIN5, GNB1, GNB1L, GNB2, GNB2L1, GNB3, GNB4, GNB5, GRWD1, GTF3C2,
- HERC1, HIRA, HZGJ,
- IFT121, IFT122, IFT140, IFT172, IFT80, IQWD1,
- KATNB1, KIAA1336, KIF21A, KIF21B, KM-PA-2,
- KEAP1,
- LLGL1, LLGL2, LRBA, LRRK1, LRRK2, LRWD1, LYST,
- MAPKBP1, MED16, MORG1,
- NBEA, NBEAL1, NEDD1, NLE1, NSMAF, NUP37, NUP43, NWD1,
- PAAF1, PAFAH1B1, PAK1IP1, PEX7, PHIP, PIK3R4, PLAA, PLRG1, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R2D, PPWD1, PREB, PRPF19, PRPF4, PWP1, PWP2,
- RAE1, RPTOR, RBBP4, RBBP5, RBBP7, RFWD2, RFWD3, RRP9,
- SCAP, SEC13, SEC31A, SEC31B, SEH1L, SHKBP1, SMU1, SPAG16, SPG, STRAP, STRN, STRN3, STRN4, STXBP5, STXBP5L,
- TAF5, TAF5L, TBL1X, TBL1XR1, TBL1Y, TBL2, TBL3, TEP1, THOC3, THOC6, TLE1, TLE2, TLE3, TLE4, TLE6, TRAF7, TSSC1, TULP4, TUWD12,
- UTP15, UTP18,
- WAIT1, WDF3, WDFY1, WDFY2, WDFY3, WDFY4, WDHD1, WDR1, WDR10, WDR12, WDR13, WDR16, WDR17, WDR18, WDR19, WDR20, WDR21A, WDR21C, WDR22, WDR23, WDR24, WDR25, WDR26, WDR27, WDR3, WDR31, WDR32, WDR33, WDR34, WDR35, WDR36, WDR37, WDR38, WDR4, WDR40A, WDR40B, WDR40C, WDR41, WDR42A, WDR42B, WDR43, WDR44, WDR46, WDR47, WDR48, WDR49, WDR5, WDR51A, WDR51B, WDR52, WDR53, WDR54, WDR55, WDR57, WDR59, WDR5B, WDR6, WDR60, WDR61, WDR62, WDR63, WDR64, WDR65, WDR66, WDR67, WDR68, WDR69, WDR7, WDR70, WDR72, WDR73, WDR74, WDR75, WDR76, WDR77, WDR78, WDR79, WDR8, WDR81, WDR82, WDR85, WDR86, WDR88, WDR89, WDR90, WDR91, WDR92, WDSOF1, WDSUB1, WDTC1, WSB1, WSB2,
- ZFP106
WDR gene | other gene names | NCBI Entrez Gene ID |
Human disease associated with mutations |
---|---|---|---|
WDR1 | AIP1; NORI-1; HEL-S-52 | 9948 | |
WDR2 | CORO2A; IR10; CLIPINB | 7464 | |
WDR3 | DIP2; UTP12 | 10885 | |
WDR4 | TRM82; TRMT82 | 10785 | |
WDR5 | SWD3; BIG-3; CFAP89 | 11091 | |
WDR6 | 11180 | ||
WDR7 | TRAG; KIAA0541; Rabconnectin 3 beta | 23335 | |
WDR8 | WRAP73 | 49856 | |
WDR9 | BRWD1; N143; C21orf107 | 54014 | |
WDR10 | IFT122; CED; SPG; CED1; WDR10p; WDR140 | 55764 | Sensenbrenner syndrome |
WDR11 | DR11; HH14; BRWD2; WDR15 | 55717 | Kallmann syndrome |
WDR12 | YTM1 | 55759 | |
WDR13 | MG21 | 64743 | |
WDR14 | GNB1L; GY2; FKSG1; WDVCF; DGCRK3 | 54584 | |
WDR15 | WDR11 | ||
WDR16 | CFAP52; WDRPUH | 146845 | |
WDR17 | 116966 | ||
WDR18 | Ipi3 | 57418 | |
WDR19 | ATD5; CED4; DYF-2; ORF26; Oseg6; PWDMP; SRTD5; IFT144; NPHP13 | 57728 | Sensenbrenner syndrome, Jeune syndrome |
WDR20 | DMR | 91833 | |
WDR21 | DCAF4; WDR21A | 26094 | |
WDR22 | DCAF5; BCRG2; BCRP2 | 8816 | |
WDR23 | DCAF11; GL014; PRO2389 | 80344 | |
WDR24 | JFP7; C16orf21 | 84219 | |
WDR25 | C14orf67 | 79446 | |
WDR26 | CDW2; GID7; MIP2 | 80232 | |
WDR27 | 253769 | ||
WDR28 | GRWD1; CDW4; GRWD; RRB1 | 83743 | |
WDR29 | SPAG16; PF20 | 79582 | |
WDR30 | ATG16L1; IBD10; APG16L; ATG16A; ATG16L | 55054 | Crohn’s disease |
WDR31 | 114987 | ||
WDR32 | DCAF10 | 79269 | |
WDR33 | NET14; WDC146 | 55339 | |
WDR34 | DIC5; FAP133; SRTD11 | 89891 | Jeune syndrome |
WDR35 | CED2; IFTA1; SRTD7; IFT121 | 57539 | Sensenbrenner syndrome |
WDR36 | GLC1G; UTP21; TAWDRP; TA-WDRP | 134430 | Primary Open Angle Glaucoma |
WDR37 | 22884 | ||
WDR38 | 401551 | ||
WDR39 | CIAO1; CIA1 | 9391 | |
WDR40A | DCAF12; CT102; TCC52; KIAA1892 | 25853 | |
WDR41 | MSTP048 | 55255 | |
WDR43 | UTP5; NET12 | 23160 | |
WDR44 | RPH11; RAB11BP | 54521 | |
WDR45 | JM5; NBIA4; NBIA5; WDRX1; WIPI4; WIPI-4 | 11152 | Beta-propeller protein-associated neurodegeneration (BPAN) |
WDR46 | UTP7; BING4; FP221; C6orf11 | 9277 | |
WDR47 | NEMITIN; KIAA0893 | 22911 | |
WDR48 | P80; UAF1; SPG60 | 57599 | |
WDR49 | 151790 | ||
WDR50 | UTP18; CGI-48 | 51096 | |
WDR52 | CFAP44 | 55779 | |
WDR53 | 348793 | ||
WDR54 | 84058 | ||
WDR55 | 54853 | ||
WDR56 | IFT80; ATD2; SRTD2 | 57560 | Jeune syndrome |
WDR57 | SNRNP40; SPF38; PRP8BP; HPRP8BP; PRPF8BP | 9410 | |
WDR58 | THOC6; BBIS; fSAP35 | 79228 | |
WDR59 | FP977 | 79726 | |
WDR60 | SRPS6; SRTD8; FAP163 | 55112 | Jeune syndrome |
WDR61 | SKI8; REC14 | 80349 | |
WDR62 | MCPH2; C19orf14 | 284403 | microcephaly |
WDR63 | DIC3; NYD-SP29 | 126820 | |
WDR64 | 128025 | ||
WDR65 | CFAP57; VWS2 | 149465 | Van der Woude syndrome |
WDR66 | CaM-IP4 | 144406 | |
WDR67 | TBC1D31; Gm85 | 93594 | |
WDR68 | DCAF7; AN11; HAN11; SWAN-1 | 10238 | |
WDR69 | DAW1; ODA16 | 164781 | |
WDR70 | 55100 | ||
WDR71 | PAAF1; PAAF; Rpn14 | 80227 | |
WDR72 | AI2A3 | 256764 | Amelogenesis imperfecta |
WDR73 | HSPC264 | 84942 | |
WDR74 | 54663 | ||
WDR75 | NET16; UTP17 | 84128 | |
WDR76 | CDW14 | 79968 | |
WDR77 | p44; MEP50; MEP-50; HKMT1069; Nbla10071; p44/Mep50 | 79084 | |
WDR78 | DIC4 | 79819 | |
WDR79 | WRAP53; DKCB3; TCAB1 | 55135 | |
WDR80 | ATG16L; ATG16B | 89849 | |
WDR81 | CAMRQ2; PPP1R166 | 124997 | cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2 |
WDR82 | SWD2; MST107; WDR82A; MSTP107; PRO2730; TMEM113; PRO34047 | 80335 | |
WDR83 | MORG1 | 84292 | |
WDR84 | PAK1IP1; PIP1; MAK11 | 55003 | |
WDR85 | DPH7; RRT2; C9orf112 | 92715 | |
WDR86 | 349136 | ||
WDR87 | NYD-SP11 | 83889 | |
WDR88 | PQWD | 126248 | |
WDR89 | MSTP050; C14orf150 | 112840 | |
WDR90 | C16orf15; C16orf16; C16orf17; C16orf18; C16orf19 | 197335 | |
WDR91 | HSPC049 | 29062 | |
WDR92 | MONAD | 116143 | |
WDR93 | 56964 | ||
WDR94 | AMBRA1; DCAF3 | 55626 | |
WDR96 | CFAP43; C10orf79 | 80217 |
Hypotheses
- A1BG has no regulatory elements in either promoter for the WD-40 repeat family proteins.
- A1BG is not transcribed by a regulatory element for the WD-40 repeat family proteins.
- No regulatory element for the WD-40 repeat family proteins participates in the transcription of A1BG.
Acknowledgements
The content on this page was first contributed by: Henry A. Hoff.
See also
References
- ↑ PDB: 1erj; Sprague ER, Redd MJ, Johnson AD, Wolberger C (June 2000). "Structure of the C-terminal domain of Tup1, a corepressor of transcription in yeast". EMBO J. 19 (12): 3016–27. doi:10.1093/emboj/19.12.3016. PMC 203344. PMID 10856245.
- ↑ Tania Islas-Flores, Gabriel Guillén, Xóchitl Alvarado-Affantranger, Miguel Lara-Flores, Federico Sánchez, and Marco A. Villanueva (2011). "PvRACK1 Loss-of-Function Impairs Cell Expansion and Morphogenesis in Phaseolus vulgaris L. Root Nodules". Molecular Plant-Microbe Interactions. 24 (7): 819–826. doi:10.1094/MPMI-11-10-0261. Retrieved 25 April 2021.
- ↑ Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (September 1994). "The ancient regulatory-protein family of WD-repeat proteins". Nature. 371 (6495): 297–300. Bibcode:1994Natur.371..297N6 Check
|bibcode=
length (help). doi:10.1038/371297a0. PMID 8090199. - ↑ 4.0 4.1 Smith TF, Gaitatzes C, Saxena K, Neer EJ (May 1999). "The WD40 repeat: a common architecture for diverse functions". Trends Biochem. Sci. 24 (5): 181–5. doi:10.1016/S0968-0004(99)01384-5. PMID 10322433.
- ↑ 5.0 5.1 Li D, Roberts R (December 2001). "WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases". Cell. Mol. Life Sci. 58 (14): 2085–97. doi:10.1007/PL00000838. PMID 11814058.
- ↑ Stirnimann CU, Petsalaki E, Russell RB, Müller CW (May 2010). "WD40 proteins propel cellular networks". Trends Biochem. Sci. 35 (10): 565–74. doi:10.1016/j.tibs.2010.04.003. PMID 20451393.
- ↑ Lander ES, Linton LM, Birren B, et al. (February 2001). "Initial sequencing and analysis of the human genome" (PDF). Nature. 409 (6822): 860–921. doi:10.1038/35057062. PMID 11237011.