WDR47

WDR47
Identifiers
Aliases	WDR47, WD repeat domain 47
External IDs	OMIM: 615734; MGI: 2139593; HomoloGene: 8984; GeneCards: WDR47; OMA:WDR47 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p13.3 Start 108,970,214 bp End 109,042,113 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F3 Start 108,498,595 bp End 108,553,035 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus ganglionic eminence orbitofrontal cortex Region I of hippocampus proper postcentral gyrus pars compacta superior frontal gyrus Brodmann area 10 pars reticulata ventricular zone Top expressed in neural layer of retina hippocampus proper facial motor nucleus temporal lobe piriform cortex dentate gyrus of hippocampal formation granule cell amygdala nucleus accumbens prefrontal cortex medial 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
Wikidata
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WD repeat domain 47 is a protein that in humans is encoded by the WDR47 gene.

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
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal
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
All tests and analysis from

Model organisms have been used in the study of WDR47 function. A conditional knockout mouse line, called Wdr47^{tm1a(EUCOMM)Wtsi} 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.

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

See also

• WD repeat

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.