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Protein

WD repeat-containing protein 73

Gene

WDR73

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 73
Gene namesi
Name:WDR73
ORF Names:HSPC264
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:25928. WDR73.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Galloway-Mowat syndrome (GAMOS)
The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Disease descriptionA rare, autosomal recessive disease with onset in infancy, and characterized by microcephaly, central nervous system abnormalities resulting in severe neurological impairment and intellectual disability, and nephrotic syndrome. Most patients develop seizures and nephrotic syndrome late in childhood.
See also OMIM:251300

Keywords - Diseasei

Epilepsy, Mental retardation

Organism-specific databases

MalaCardsiWDR73.
MIMi251300. phenotype.
PharmGKBiPA142670588.

Polymorphism and mutation databases

BioMutaiWDR73.
DMDMi74758274.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 378378WD repeat-containing protein 73PRO_0000307280Add
BLAST

Proteomic databases

EPDiQ6P4I2.
MaxQBiQ6P4I2.
PaxDbiQ6P4I2.
PRIDEiQ6P4I2.

PTM databases

iPTMnetiQ6P4I2.
PhosphoSiteiQ6P4I2.

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

BgeeiQ6P4I2.
CleanExiHS_WDR73.
ExpressionAtlasiQ6P4I2. baseline and differential.
GenevisibleiQ6P4I2. HS.

Organism-specific databases

HPAiHPA039357.

Interactioni

Protein-protein interaction databases

BioGridi124376. 16 interactions.
IntActiQ6P4I2. 7 interactions.
STRINGi9606.ENSP00000387982.

Structurei

3D structure databases

ProteinModelPortaliQ6P4I2.
SMRiQ6P4I2. Positions 159-369.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati73 – 11341WD 1Add
BLAST
Repeati121 – 16343WD 2Add
BLAST
Repeati167 – 20539WD 3Add
BLAST
Repeati214 – 25542WD 4Add
BLAST
Repeati266 – 30540WD 5Add
BLAST
Repeati322 – 37150WD 6Add
BLAST

Sequence similaritiesi

Belongs to the WD repeat WDR73 family.Curated
Contains 6 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0264. Eukaryota.
ENOG410XNU9. LUCA.
GeneTreeiENSGT00390000015701.
HOVERGENiHBG108672.
InParanoidiQ6P4I2.
OMAiDASLHVW.
OrthoDBiEOG7DZ8KJ.
PhylomeDBiQ6P4I2.
TreeFamiTF331370.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 2 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6P4I2-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:378
Mass (Da):41,685
Last modified:July 5, 2004 - v1
Checksum:i8494C5DD383F8C11
GO

Sequence cautioni

The sequence AAF28942.1 differs from that shown. Reason: Frameshift at position 374. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti224 – 2241E → K in BAB55373 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti249 – 2491R → H.
Corresponds to variant rs11073619 [ dbSNP | Ensembl ].
VAR_035399

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.
CCDSiCCDS45339.1.
RefSeqiNP_116245.2. NM_032856.3.
UniGeneiHs.745027.

Genome annotation databases

EnsembliENST00000434634; ENSP00000387982; ENSG00000177082.
GeneIDi84942.
KEGGihsa:84942.
UCSCiuc002bkw.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS45339.1.
RefSeqiNP_116245.2. NM_032856.3.
UniGeneiHs.745027.

3D structure databases

ProteinModelPortaliQ6P4I2.
SMRiQ6P4I2. Positions 159-369.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124376. 16 interactions.
IntActiQ6P4I2. 7 interactions.
STRINGi9606.ENSP00000387982.

PTM databases

iPTMnetiQ6P4I2.
PhosphoSiteiQ6P4I2.

Polymorphism and mutation databases

BioMutaiWDR73.
DMDMi74758274.

Proteomic databases

EPDiQ6P4I2.
MaxQBiQ6P4I2.
PaxDbiQ6P4I2.
PRIDEiQ6P4I2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000434634; ENSP00000387982; ENSG00000177082.
GeneIDi84942.
KEGGihsa:84942.
UCSCiuc002bkw.3. human.

Organism-specific databases

CTDi84942.
GeneCardsiWDR73.
HGNCiHGNC:25928. WDR73.
HPAiHPA039357.
MalaCardsiWDR73.
MIMi251300. phenotype.
616144. gene.
neXtProtiNX_Q6P4I2.
PharmGKBiPA142670588.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0264. Eukaryota.
ENOG410XNU9. LUCA.
GeneTreeiENSGT00390000015701.
HOVERGENiHBG108672.
InParanoidiQ6P4I2.
OMAiDASLHVW.
OrthoDBiEOG7DZ8KJ.
PhylomeDBiQ6P4I2.
TreeFamiTF331370.

Miscellaneous databases

GenomeRNAii84942.
PROiQ6P4I2.
SOURCEiSearch...

Gene expression databases

BgeeiQ6P4I2.
CleanExiHS_WDR73.
ExpressionAtlasiQ6P4I2. baseline and differential.
GenevisibleiQ6P4I2. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 2 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Umbilical cord blood.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: INVOLVEMENT IN GAMOS, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiWDR73_HUMAN
AccessioniPrimary (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: June 8, 2016
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.