WDR47

WDR47
Identifiers
Aliases	WDR47 , WD repeat domain 47
External IDs	OMIM: 615734 MGI: 2139593 HomoloGene: 8984 GeneCards: WDR47
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p13.3 Start 108,970,214 bp [1] End 109,042,113 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 F3 Start 108,498,595 bp [2] End 108,553,035 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence orbitofrontal cortex Region I of hippocampus proper postcentral gyrus superior frontal gyrus Brodmann area 10 Brodmann area 23 superior vestibular nucleus Brodmann area 46 frontal pole Top expressed in hippocampus proper facial motor nucleus temporal lobe piriform cortex amygdala nucleus accumbens prefrontal cortex medial geniculate nucleus medial dorsal nucleus lateral geniculate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoskeleton cytoplasm microtubule Biological process multicellular organism development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 22911 99512 Ensembl ENSG00000085433 ENSMUSG00000040389 UniProt O94967 Q8CGF6 RefSeq (mRNA) NM_001142550 NM_001142551 NM_014969 NM_181400 NM_001358053 NM_001358054 NM_001358055 RefSeq (protein) NP_001136022 NP_001136023 NP_055784 NP_852065 NP_001344982 NP_001344983 NP_001344984 Location (UCSC) Chr 1: 108.97 – 109.04 Mb Chr 3: 108.5 – 108.55 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

WD repeat domain 47 is a protein that in humans is encoded by the WDR47 gene. ^[5]

Model organisms

Wdr47 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Abnormal [6]
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal [7]
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Abnormal
Eye Histopathology	Normal
Citrobacter infection	Normal [8]
All tests and analysis from [9] [10]

Model organisms have been used in the study of WDR47 function. A conditional knockout mouse line, called Wdr47^{tm1a(EUCOMM)Wtsi [11] [12]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. ^{[13] [14] [15]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[9] [16]} Twenty-six tests were carried out on mutant mice and three significant abnormalities were observed. ^[9] Homozygous mutant animals had an absence of corpus callosum and increased circulating alkaline phosphatase levels. Male homozygous mice also had abnormal indirect calorimetry measures. ^[9]

See also

• WD repeat

References

1. GRCh38: Ensembl release 89: ENSG00000085433 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040389 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: WD repeat domain 47" . Retrieved 2011-08-30.
6. "Indirect calorimetry data for Wdr47". Wellcome Trust Sanger Institute.
7. "Clinical chemistry data for Wdr47". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Wdr47". Wellcome Trust Sanger Institute.
9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
14. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
15. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.

Further reading

• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–64. doi: 10.1093/dnares/5.6.355 . PMID   10048485.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS (Dec 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID   16341674. S2CID   69278.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.