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

Gene ID: 84942, updated on 2-Dec-2019

Summary

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
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

Genomic context

See WDR73 in Genome Data Viewer
Location:
15q25.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (84641492..84654343, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85185607..85197521, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370947 Neighboring gene zinc finger and SCAN domain containing 2 Neighboring gene SCAN domain containing 2 pseudogene Neighboring gene egl-9 family hypoxia inducible factor 1 pseudogene 1 Neighboring gene neuromedin B Neighboring gene SEC11 homolog A, signal peptidase complex subunit

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Galloway-Mowat syndrome 1
MedGen: C4551772 OMIM: 251300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14888

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cytoplasmic microtubule organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat-containing protein 73
Names
FLJ00296 protein

NCBI Reference Sequences (RefSeq)

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_042034.1 RefSeqGene

    Range
    5061..17852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032856.5NP_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
    UniProtKB/TrEMBL
    Q5RKY8, Q6PJL8
    Related
    ENSP00000387982.2, ENST00000434634.6
    Conserved Domains (2) summary
    COG2319
    Location:238370
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:279329
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_130944.1 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_130945.1 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, BU601517, BX446522, CN481562, CX867053
  3. NR_130946.1 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, BU601517, CX867053
  4. NR_130947.1 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, BU601517, CD514627, CX867053

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    84641492..84654343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_243214.3 RNA Sequence

    Related
    ENST00000559994.5
  2. XR_001751408.2 RNA Sequence

  3. XR_001751407.2 RNA Sequence

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