CHD9

Chromodomain-helicase-DNA-binding protein 9 is an enzyme that in humans is encoded by the CHD9 gene.[5][6]

CHD9
Identifiers
Aliases	CHD9, AD013, CReMM, KISH2, PRIC320, CHD-9, chromodomain helicase DNA binding protein 9
External IDs	OMIM: 616936 MGI: 1924001 HomoloGene: 11844 GeneCards: CHD9
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.2 Start 53,055,033 bp[1] End 53,329,150 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 C4 Start 90,828,352 bp[2] End 91,054,516 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • nucleotide binding • hydrolase activity, acting on acid anhydrides • GO:0001948 protein binding • ATP binding • hydrolase activity • GO:0008026 helicase activity Cellular component • nucleoplasm • cell nucleus • cytoplasm Biological process • regulation of transcription, DNA-templated • transcription, DNA-templated • regulation of lipid metabolic process • chromatin organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	80205	109151
Ensembl	ENSG00000177200	ENSMUSG00000056608
UniProt	Q3L8U1	Q8BYH8
RefSeq (mRNA)	NM_001308319 NM_015287 NM_025134 NM_001352127 NM_001352156 NM_001352157 NM_001352158 NM_001382353 NM_001382354 NM_001382355	NM_177224 NM_001310530
RefSeq (protein)	NP_001295248 NP_079410 NP_001339056 NP_001339085 NP_001339086 NP_001339087 NP_001369282 NP_001369283 NP_001369284	NP_001297459 NP_796198
Location (UCSC)	Chr 16: 53.06 – 53.33 Mb	Chr 8: 90.83 – 91.05 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Model organisms have been used in the study of CHD9 function. A conditional knockout mouse line called Chd9^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13] - in-depth bone and cartilage phenotyping[14]

Chd9 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[8][13][14]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Abnormal

References

1. GRCh38: Ensembl release 89: ENSG00000177200 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056608 - 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. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Apr 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
6. "Entrez Gene: CHD9 chromodomain helicase DNA binding protein 9".
7. 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.
8. "International Mouse Phenotyping Consortium".
9. 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.
10. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
11. 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.
12. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
13. "Infection and Immunity Immunophenotyping (3i) Consortium".
14. "OBCD Consortium".

External links

• Human CHD9 genome location and CHD9 gene details page in the UCSC Genome Browser.

Further reading

• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Hu RM, Han ZG, Song HD, Peng YD, Huang QH, Ren SX, Gu YJ, Huang CH, Li YB, Jiang CL, Fu G, Zhang QH, Gu BW, Dai M, Mao YF, Gao GF, Rong R, Ye M, Zhou J, Xu SH, Gu J, Shi JX, Jin WR, Zhang CK, Wu TM, Huang GY, Chen Z, Chen MD, Chen JL (Aug 2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
• Shur I, Benayahu D (Sep 2005). "Characterization and functional analysis of CReMM, a novel chromodomain helicase DNA-binding protein". Journal of Molecular Biology. 352 (3): 646–55. doi:10.1016/j.jmb.2005.06.049. PMID 16095617.
• Marom R, Shur I, Hager GL, Benayahu D (Jun 2006). "Expression and regulation of CReMM, a chromodomain helicase-DNA-binding (CHD), in marrow stroma derived osteoprogenitors". Journal of Cellular Physiology. 207 (3): 628–35. doi:10.1002/jcp.20611. PMID 16523501.
• Surapureddi S, Viswakarma N, Yu S, Guo D, Rao MS, Reddy JK (May 2006). "PRIC320, a transcription coactivator, isolated from peroxisome proliferator-binding protein complex". Biochemical and Biophysical Research Communications. 343 (2): 535–43. doi:10.1016/j.bbrc.2006.02.160. PMID 16554032.
• Shur I, Solomon R, Benayahu D (May 2006). "Dynamic interactions of chromatin-related mesenchymal modulator, a chromodomain helicase-DNA-binding protein, with promoters in osteoprogenitors". Stem Cells. 24 (5): 1288–93. doi:10.1634/stemcells.2005-0300. PMID 16705189.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.