WDR73_HUMAN
ID WDR73_HUMAN Reviewed; 378 AA.
AC Q6P4I2; Q96JZ1; Q9P0B7;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=WD repeat-containing protein 73;
GN Name=WDR73; ORFNames=HSPC264;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP INVOLVEMENT IN GAMOS1, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY,
RP AND DEVELOPMENTAL STAGE.
RX PubMed=25466283; DOI=10.1016/j.ajhg.2014.10.011;
RA Colin E., Huynh Cong E., Mollet G., Guichet A., Gribouval O., Arrondel C.,
RA Boyer O., Daniel L., Gubler M.C., Ekinci Z., Tsimaratos M., Chabrol B.,
RA Boddaert N., Verloes A., Chevrollier A., Gueguen N., Desquiret-Dumas V.,
RA Ferre M., Procaccio V., Richard L., Funalot B., Moncla A., Bonneau D.,
RA Antignac C.;
RT "Loss-of-function mutations in WDR73 are responsible for microcephaly and
RT steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.";
RL Am. J. Hum. Genet. 95:637-648(2014).
CC -!- FUNCTION: May play a role in the regulation of microtubule organization
CC and dynamics (PubMed:25466283). {ECO:0000269|PubMed:25466283}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton,
CC spindle {ECO:0000269|PubMed:25466283}. Cytoplasm, cytoskeleton, spindle
CC pole {ECO:0000269|PubMed:25466283}. Cleavage furrow
CC {ECO:0000269|PubMed:25466283}. Note=During interphase, located in the
CC cytosol. During mitosis, accumulates at the spindle poles and
CC microtubule asters and later in the cleavage furrow.
CC {ECO:0000269|PubMed:25466283}.
CC -!- TISSUE SPECIFICITY: Expressed in kidney and brain. In the kidney,
CC expressed in glomeruli, most probably in podocytes, and in tubules (at
CC protein level). In the brain, expressed in the cerebellum, with high
CC levels in Purkinje cells and their projecting axons, in the deep
CC cerebellar nuclei and in pyramidal neurons of the cerebral cortex (at
CC protein level). In the white matter, mainly present in astrocytes, but
CC not in oligodendrocytes (at protein level). Also highly expressed in
CC endothelial cells of cerebral capillaries (at protein level).
CC {ECO:0000269|PubMed:25466283}.
CC -!- DEVELOPMENTAL STAGE: In fetal kidney (25 weeks of gestation), expressed
CC in immature podocytes from the S-shaped-body stage to the capillary
CC loop stage. Expression decreases along glomerular maturation (at
CC protein level). In mature glomeruli, expressed at the periphery of the
CC glomerular tuft, most probably in the cell body of mature podocytes.
CC Also detected in mature tubules (at protein level).
CC {ECO:0000269|PubMed:25466283}.
CC -!- DISEASE: Galloway-Mowat syndrome 1 (GAMOS1) [MIM:251300]: A form of
CC Galloway-Mowat syndrome, a severe renal-neurological disease
CC characterized by early-onset nephrotic syndrome associated with
CC microcephaly, central nervous system abnormalities, developmental
CC delays, and a propensity for seizures. Brain anomalies include gyration
CC defects ranging from lissencephaly to pachygyria and polymicrogyria,
CC and cerebellar hypoplasia. Most patients show facial dysmorphism
CC characterized by a small, narrow forehead, large/floppy ears, deep-set
CC eyes, hypertelorism and micrognathia. Additional variable features are
CC visual impairment and arachnodactyly. Patients may die in early
CC childhood. GAMOS1 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:25466283}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the WD repeat WDR73 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF28942.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF161382; AAF28942.1; ALT_FRAME; mRNA.
DR EMBL; AK027794; BAB55373.1; -; mRNA.
DR EMBL; BC063392; AAH63392.1; -; mRNA.
DR CCDS; CCDS45339.1; -.
DR RefSeq; NP_116245.2; NM_032856.3.
DR AlphaFoldDB; Q6P4I2; -.
DR SMR; Q6P4I2; -.
DR BioGRID; 124376; 25.
DR IntAct; Q6P4I2; 12.
DR MINT; Q6P4I2; -.
DR STRING; 9606.ENSP00000387982; -.
DR GlyGen; Q6P4I2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6P4I2; -.
DR PhosphoSitePlus; Q6P4I2; -.
DR BioMuta; WDR73; -.
DR DMDM; 74758274; -.
DR EPD; Q6P4I2; -.
DR jPOST; Q6P4I2; -.
DR MassIVE; Q6P4I2; -.
DR MaxQB; Q6P4I2; -.
DR PaxDb; Q6P4I2; -.
DR PeptideAtlas; Q6P4I2; -.
DR PRIDE; Q6P4I2; -.
DR ProteomicsDB; 66980; -.
DR Antibodypedia; 50322; 90 antibodies from 19 providers.
DR DNASU; 84942; -.
DR Ensembl; ENST00000434634.7; ENSP00000387982.3; ENSG00000177082.13.
DR GeneID; 84942; -.
DR KEGG; hsa:84942; -.
DR MANE-Select; ENST00000434634.7; ENSP00000387982.3; NM_032856.5; NP_116245.2.
DR UCSC; uc002bkw.3; human.
DR CTD; 84942; -.
DR DisGeNET; 84942; -.
DR GeneCards; WDR73; -.
DR HGNC; HGNC:25928; WDR73.
DR HPA; ENSG00000177082; Low tissue specificity.
DR MalaCards; WDR73; -.
DR MIM; 251300; phenotype.
DR MIM; 616144; gene.
DR neXtProt; NX_Q6P4I2; -.
DR OpenTargets; ENSG00000177082; -.
DR Orphanet; 83472; CAMOS syndrome.
DR Orphanet; 2065; Galloway-Mowat syndrome.
DR PharmGKB; PA142670588; -.
DR VEuPathDB; HostDB:ENSG00000177082; -.
DR eggNOG; KOG0264; Eukaryota.
DR GeneTree; ENSGT00390000015701; -.
DR HOGENOM; CLU_070481_0_0_1; -.
DR InParanoid; Q6P4I2; -.
DR OMA; HTWHPCK; -.
DR OrthoDB; 791631at2759; -.
DR PhylomeDB; Q6P4I2; -.
DR TreeFam; TF331370; -.
DR PathwayCommons; Q6P4I2; -.
DR SignaLink; Q6P4I2; -.
DR BioGRID-ORCS; 84942; 314 hits in 1081 CRISPR screens.
DR ChiTaRS; WDR73; human.
DR GenomeRNAi; 84942; -.
DR Pharos; Q6P4I2; Tbio.
DR PRO; PR:Q6P4I2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q6P4I2; protein.
DR Bgee; ENSG00000177082; Expressed in right uterine tube and 190 other tissues.
DR ExpressionAtlas; Q6P4I2; baseline and differential.
DR Genevisible; Q6P4I2; HS.
DR GO; GO:0032154; C:cleavage furrow; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0000922; C:spindle pole; IEA:UniProtKB-SubCell.
DR GO; GO:0031122; P:cytoplasmic microtubule organization; IMP:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:0006997; P:nucleus organization; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR InterPro; IPR042795; Wdr73.
DR PANTHER; PTHR46947; PTHR46947; 1.
DR SMART; SM00320; WD40; 2.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Cytoskeleton; Epilepsy; Intellectual disability;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..378
FT /note="WD repeat-containing protein 73"
FT /id="PRO_0000307280"
FT REPEAT 73..113
FT /note="WD 1"
FT REPEAT 121..163
FT /note="WD 2"
FT REPEAT 167..205
FT /note="WD 3"
FT REPEAT 214..255
FT /note="WD 4"
FT REPEAT 266..305
FT /note="WD 5"
FT REPEAT 322..371
FT /note="WD 6"
FT VARIANT 249
FT /note="R -> H (in dbSNP:rs11073619)"
FT /id="VAR_035399"
FT CONFLICT 224
FT /note="E -> K (in Ref. 2; BAB55373)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 378 AA; 41685 MW; 8494C5DD383F8C11 CRC64;
MDPGDDWLVE SLRLYQDFYA FDLSGATRVL EWIDDKGVFV AGYESLKKNE ILHLKLPLRL
SVKENKGLFP ERDFKVRHGG FSDRSIFDLK HVPHTRLLVT SGLPGCYLQV WQVAEDSDVI
KAVSTIAVHE KEESLWPRVA VFSTLAPGVL HGARLRSLQV VDLESRKTTY TSDVSDSEEL
SSLQVLDADT FAFCCASGRL GLVDTRQKWA PLENRSPGPG SGGERWCAEV GSWGQGPGPS
IASLGSDGRL CLLDPRDLCH PVSSVQCPVS VPSPDPELLR VTWAPGLKNC LAISGFDGTV
QVYDATSWDG TRSQDGTRSQ VEPLFTHRGH IFLDGNGMDP APLVTTHTWH PCRPRTLLSA
TNDASLHVWD WVDLCAPR
