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WDR73 WD repeat domain 73 [ Homo sapiens (human) ]

Gene ID: 84942, updated on 14-Nov-2024

Summary

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Official Symbol
WDR73provided by HGNC
Official Full Name
WD repeat domain 73provided by HGNC
Primary source
HGNC:HGNC:25928
See related
Ensembl:ENSG00000177082 MIM:616144; AllianceGenome:HGNC:25928
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAMOS; GAMOS1; HSPC264
Summary
The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Expression
Ubiquitous expression in thyroid (RPKM 6.8), prostate (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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See WDR73 in Genome Data Viewer
Location:
15q25.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84639285..84654283, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82391705..82406696, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85182516..85197514, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6768 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85146655-85147283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85152722-85153247 Neighboring gene zinc finger and SCAN domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6770 Neighboring gene SCAN domain containing 2 pseudogene Neighboring gene egl-9 family hypoxia inducible factor 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85196867-85197834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6771 Neighboring gene neuromedin B Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85229719-85230218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85259023-85259588

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. WDR73-related galloway mowat syndrome with collapsing glomerulopathy. El Younsi M, et al. Eur J Med Genet, 2019 Sep. PMID 30315938
  2. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Jinks RN, et al. Brain, 2015 Aug. PMID 26070982, Free PMC Article
  3. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Vodopiutz J, et al. Hum Mutat, 2015 Nov. PMID 26123727, Free PMC Article
  4. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. Jiang C, et al. Clin Chim Acta, 2017 Jan. PMID 27983999
  5. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. Al-Rakan MA, et al. BMC Ophthalmol, 2018 Jun 22. PMID 29929488, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
    Title: Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
  2. A new homozygous missense mutation was identified in two siblings with Galloway-Mowat syndrome.
    Title: WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
  3. We expanded the clinical phenotype of GMS with WDR73 gene defect to include retinal dysfunction with missense mutation and developmental dysplasia of the hip.
    Title: Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
  4. WDR73 as a candidate gene of severe intellectual disability and cerebellar hypoplasia.
    Title: WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
  5. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.
    Title: WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
  6. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
    Title: Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
  7. WDR73 interacts with mitotic microtubules to regulate cell cycle progression, proliferation and survival in brain
    Title: Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
  8. WDR73 plays a crucial role in the maintenance of cell architecture and cell survival.
    Title: Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Galloway-Mowat syndrome 1
MedGen: C4551772 OMIM: 251300 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14888

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoplasmic microtubule organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nucleus organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with cleavage furrow IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
WD repeat-containing protein 73
Names
FLJ00296 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042034.2 RefSeqGene

    Range
    5000..19998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032856.5 → NP_116245.2  WD repeat-containing protein 73

    See identical proteins and their annotated locations for NP_116245.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    AC048382
    Consensus CDS
    CCDS45339.1
    UniProtKB/Swiss-Prot
    Q6P4I2, Q96JZ1, Q9P0B7
    UniProtKB/TrEMBL
    Q6PJL8
    Related
    ENSP00000387982.3, ENST00000434634.7
    Conserved Domains (2) summary
    COG2319
    Location:238 → 370
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:279 → 329
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_130944.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC048382, AK055578, AK225068, BC014115, BC050648, BM050710, BM875282, CX867053

  2. NR_130945.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, BX446522, CN481562, CX867053

  3. NR_130946.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in its 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC048382, BC014115, BC050648, BM050710, BM875282, CX867053

  4. NR_130947.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC048382, AK225068, BC014115, BC050648, BM050710, BM875282, CD514627, CX867053

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    84639285..84654283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791797.1 Reference GRCh38.p14 PATCHES

    Range
    1131131..1146129 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    82391705..82406696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P4I2.1 GenPept UniProtKB/Swiss-Prot:Q6P4I2

Gene LinkOut

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