UniProtKB - Q6P4I2 (WDR73_HUMAN)
Protein
WD repeat-containing protein 73
Gene
WDR73
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).1 Publication
GO - Biological processi
- cytoplasmic microtubule organization Source: UniProtKB
- negative regulation of apoptotic process Source: UniProtKB
- nucleus organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q6P4I2 |
Names & Taxonomyi
Protein namesi | Recommended name: WD repeat-containing protein 73 |
Gene namesi | Name:WDR73 ORF Names:HSPC264 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25928, WDR73 |
MIMi | 616144, gene |
neXtProti | NX_Q6P4I2 |
VEuPathDBi | HostDB:ENSG00000177082.12 |
Subcellular locationi
Cytoplasm and Cytosol
Cytoskeleton
- spindle 1 Publication
- spindle pole 1 Publication
Other locations
- Cleavage furrow 1 Publication
Note: During interphase, located in the cytosol. During mitosis, accumulates at the spindle poles and microtubule asters and later in the cleavage furrow.1 Publication
Cytoskeleton
- spindle pole Source: UniProtKB-SubCell
Cytosol
- cytosol Source: UniProtKB-SubCell
Plasma Membrane
- cleavage furrow Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Galloway-Mowat syndrome 1 (GAMOS1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive.
Related information in OMIMKeywords - Diseasei
Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 84942 |
MalaCardsi | WDR73 |
MIMi | 251300, phenotype |
OpenTargetsi | ENSG00000177082 |
Orphaneti | 83472, CAMOS syndrome 2065, Galloway-Mowat syndrome |
PharmGKBi | PA142670588 |
Miscellaneous databases
Pharosi | Q6P4I2, Tbio |
Genetic variation databases
BioMutai | WDR73 |
DMDMi | 74758274 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307280 | 1 – 378 | WD repeat-containing protein 73Add BLAST | 378 |
Proteomic databases
EPDi | Q6P4I2 |
jPOSTi | Q6P4I2 |
MassIVEi | Q6P4I2 |
MaxQBi | Q6P4I2 |
PaxDbi | Q6P4I2 |
PeptideAtlasi | Q6P4I2 |
PRIDEi | Q6P4I2 |
ProteomicsDBi | 66980 |
PTM databases
iPTMneti | Q6P4I2 |
PhosphoSitePlusi | Q6P4I2 |
Expressioni
Tissue specificityi
Expressed in kidney and brain. In the kidney, expressed in glomeruli, most probably in podocytes, and in tubules (at protein level). In the brain, expressed in the cerebellum, with high levels in Purkinje cells and their projecting axons, in the deep cerebellar nuclei and in pyramidal neurons of the cerebral cortex (at protein level). In the white matter, mainly present in astrocytes, but not in oligodendrocytes (at protein level). Also highly expressed in endothelial cells of cerebral capillaries (at protein level).1 Publication
Developmental stagei
In fetal kidney (25 weeks of gestation), expressed in immature podocytes from the S-shaped-body stage to the capillary loop stage. Expression decreases along glomerular maturation (at protein level). In mature glomeruli, expressed at the periphery of the glomerular tuft, most probably in the cell body of mature podocytes. Also detected in mature tubules (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000177082, Expressed in epithelium of bronchus and 231 other tissues |
ExpressionAtlasi | Q6P4I2, baseline and differential |
Genevisiblei | Q6P4I2, HS |
Organism-specific databases
HPAi | ENSG00000177082, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124376, 22 interactors |
IntActi | Q6P4I2, 12 interactors |
MINTi | Q6P4I2 |
STRINGi | 9606.ENSP00000387982 |
Miscellaneous databases
RNActi | Q6P4I2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 73 – 113 | WD 1Add BLAST | 41 | |
Repeati | 121 – 163 | WD 2Add BLAST | 43 | |
Repeati | 167 – 205 | WD 3Add BLAST | 39 | |
Repeati | 214 – 255 | WD 4Add BLAST | 42 | |
Repeati | 266 – 305 | WD 5Add BLAST | 40 | |
Repeati | 322 – 371 | WD 6Add BLAST | 50 |
Sequence similaritiesi
Belongs to the WD repeat WDR73 family.Curated
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0264, Eukaryota |
GeneTreei | ENSGT00390000015701 |
HOGENOMi | CLU_070481_0_0_1 |
InParanoidi | Q6P4I2 |
OMAi | CKPRTLL |
OrthoDBi | 791631at2759 |
PhylomeDBi | Q6P4I2 |
TreeFami | TF331370 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf IPR042795, Wdr73 |
PANTHERi | PTHR46947, PTHR46947, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 2 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q6P4I2-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDPGDDWLVE SLRLYQDFYA FDLSGATRVL EWIDDKGVFV AGYESLKKNE
60 70 80 90 100
ILHLKLPLRL SVKENKGLFP ERDFKVRHGG FSDRSIFDLK HVPHTRLLVT
110 120 130 140 150
SGLPGCYLQV WQVAEDSDVI KAVSTIAVHE KEESLWPRVA VFSTLAPGVL
160 170 180 190 200
HGARLRSLQV VDLESRKTTY TSDVSDSEEL SSLQVLDADT FAFCCASGRL
210 220 230 240 250
GLVDTRQKWA PLENRSPGPG SGGERWCAEV GSWGQGPGPS IASLGSDGRL
260 270 280 290 300
CLLDPRDLCH PVSSVQCPVS VPSPDPELLR VTWAPGLKNC LAISGFDGTV
310 320 330 340 350
QVYDATSWDG TRSQDGTRSQ VEPLFTHRGH IFLDGNGMDP APLVTTHTWH
360 370
PCRPRTLLSA TNDASLHVWD WVDLCAPR
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YLH0 | H0YLH0_HUMAN | WD repeat-containing protein 73 | WDR73 | 131 | Annotation score: | ||
H0YMT3 | H0YMT3_HUMAN | WD repeat-containing protein 73 | WDR73 | 178 | Annotation score: | ||
H0YMX2 | H0YMX2_HUMAN | WD repeat-containing protein 73 | WDR73 | 85 | Annotation score: |
Sequence cautioni
The sequence AAF28942 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 224 | E → K in BAB55373 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035399 | 249 | R → H. Corresponds to variant dbSNP:rs11073619Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161382 mRNA Translation: AAF28942.1 Frameshift. AK027794 mRNA Translation: BAB55373.1 BC063392 mRNA Translation: AAH63392.1 |
CCDSi | CCDS45339.1 |
RefSeqi | NP_116245.2, NM_032856.3 |
Genome annotation databases
Ensembli | ENST00000434634; ENSP00000387982; ENSG00000177082 |
GeneIDi | 84942 |
KEGGi | hsa:84942 |
UCSCi | uc002bkw.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161382 mRNA Translation: AAF28942.1 Frameshift. AK027794 mRNA Translation: BAB55373.1 BC063392 mRNA Translation: AAH63392.1 |
CCDSi | CCDS45339.1 |
RefSeqi | NP_116245.2, NM_032856.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124376, 22 interactors |
IntActi | Q6P4I2, 12 interactors |
MINTi | Q6P4I2 |
STRINGi | 9606.ENSP00000387982 |
PTM databases
iPTMneti | Q6P4I2 |
PhosphoSitePlusi | Q6P4I2 |
Genetic variation databases
BioMutai | WDR73 |
DMDMi | 74758274 |
Proteomic databases
EPDi | Q6P4I2 |
jPOSTi | Q6P4I2 |
MassIVEi | Q6P4I2 |
MaxQBi | Q6P4I2 |
PaxDbi | Q6P4I2 |
PeptideAtlasi | Q6P4I2 |
PRIDEi | Q6P4I2 |
ProteomicsDBi | 66980 |
Protocols and materials databases
Antibodypediai | 50322, 85 antibodies |
Genome annotation databases
Ensembli | ENST00000434634; ENSP00000387982; ENSG00000177082 |
GeneIDi | 84942 |
KEGGi | hsa:84942 |
UCSCi | uc002bkw.3, human |
Organism-specific databases
CTDi | 84942 |
DisGeNETi | 84942 |
GeneCardsi | WDR73 |
HGNCi | HGNC:25928, WDR73 |
HPAi | ENSG00000177082, Low tissue specificity |
MalaCardsi | WDR73 |
MIMi | 251300, phenotype 616144, gene |
neXtProti | NX_Q6P4I2 |
OpenTargetsi | ENSG00000177082 |
Orphaneti | 83472, CAMOS syndrome 2065, Galloway-Mowat syndrome |
PharmGKBi | PA142670588 |
VEuPathDBi | HostDB:ENSG00000177082.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0264, Eukaryota |
GeneTreei | ENSGT00390000015701 |
HOGENOMi | CLU_070481_0_0_1 |
InParanoidi | Q6P4I2 |
OMAi | CKPRTLL |
OrthoDBi | 791631at2759 |
PhylomeDBi | Q6P4I2 |
TreeFami | TF331370 |
Enzyme and pathway databases
PathwayCommonsi | Q6P4I2 |
Miscellaneous databases
BioGRID-ORCSi | 84942, 306 hits in 1000 CRISPR screens |
ChiTaRSi | WDR73, human |
GenomeRNAii | 84942 |
Pharosi | Q6P4I2, Tbio |
PROi | PR:Q6P4I2 |
RNActi | Q6P4I2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177082, Expressed in epithelium of bronchus and 231 other tissues |
ExpressionAtlasi | Q6P4I2, baseline and differential |
Genevisiblei | Q6P4I2, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR036322, WD40_repeat_dom_sf IPR042795, Wdr73 |
PANTHERi | PTHR46947, PTHR46947, 1 hit |
SMARTi | View protein in SMART SM00320, WD40, 2 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | WDR73_HUMAN | |
Accessioni | Q6P4I2Primary (citable) accession number: Q6P4I2 Secondary accession number(s): Q96JZ1, Q9P0B7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | July 5, 2004 | |
Last modified: | April 7, 2021 | |
This is version 138 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families