ALDH1B1

Aldehyde dehydrogenase X, mitochondrial is an enzyme that in humans is encoded by the ALDH1B1 gene.[5][6]

ALDH1B1
Identifiers
Aliases	ALDH1B1, ALDH5, ALDHX, aldehyde dehydrogenase 1 family member B1
External IDs	OMIM: 100670 MGI: 1919785 HomoloGene: 115470 GeneCards: ALDH1B1
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p13.1 Start 38,392,702 bp[1] End 38,398,661 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 B1 Start 45,799,022 bp[2] End 45,804,604 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • oxidoreductase activity • aldehyde dehydrogenase (NAD) activity • NAD binding • oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor • glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity Cellular component • mitochondrial matrix • intracellular membrane-bounded organelle • mitochondrion • nucleoplasm Biological process • ethanol catabolic process • metabolism • oxidation-reduction process • ethanol oxidation • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	219	72535
Ensembl	ENSG00000137124	ENSMUSG00000035561
UniProt	P30837	Q9CZS1
RefSeq (mRNA)	NM_000692	NM_028270
RefSeq (protein)	NP_000683	NP_082546
Location (UCSC)	Chr 9: 38.39 – 38.4 Mb	Chr 4: 45.8 – 45.8 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems.[6]

Model organisms

Model organisms have been used in the study of ALDH1B1 function. A conditional knockout mouse line called Aldh1b1^{tm2a(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]

Aldh1b1 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	Normal
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	Normal

References

1. GRCh38: Ensembl release 89: ENSG00000137124 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035561 - 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. Hsu LC, Chang WC (Jul 1991). "Cloning and characterization of a new functional human aldehyde dehydrogenase gene". The Journal of Biological Chemistry. 266 (19): 12257–65. PMID 2061311.
6. "Entrez Gene: ALDH1B1 aldehyde dehydrogenase 1 family, member B1".
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. S2CID 85911512.
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. S2CID 18872015.
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 ALDH1B1 genome location and ALDH1B1 gene details page in the UCSC Genome Browser.

Further reading

• Yoshida A (Aug 1992). "Molecular genetics of human aldehyde dehydrogenase". Pharmacogenetics. 2 (4): 139–47. doi:10.1097/00008571-199208000-00001. PMID 1306115.
• Hiraoka LR, Hsu L, Hsieh CL (Jan 1995). "Assignment of ALDH3 to human chromosome 17p11.2 and ALDH5 to human chromosome 9p13". Genomics. 25 (1): 323–5. doi:10.1016/0888-7543(95)80150-K. PMID 7774944.
• Stewart MJ, Malek K, Xiao Q, Dipple KM, Crabb DW (Jun 1995). "The novel aldehyde dehydrogenase gene, ALDH5, encodes an active aldehyde dehydrogenase enzyme". Biochemical and Biophysical Research Communications. 211 (1): 144–51. doi:10.1006/bbrc.1995.1789. PMID 7779080.
• 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.
• Sherman D, Davé V, Hsu LC, Peters TJ, Yoshida A (Nov 1993). "Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene". Human Genetics. 92 (5): 477–80. doi:10.1007/BF00216454. PMID 8244338. S2CID 10507521.
• Stewart MJ, Malek K, Crabb DW (Feb 1996). "Distribution of messenger RNAs for aldehyde dehydrogenase 1, aldehyde dehydrogenase 2, and aldehyde dehydrogenase 5 in human tissues". Journal of Investigative Medicine. 44 (2): 42–6. PMID 8689400.
• 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.
• Luo P, Wang A, Payne KJ, Peng H, Wang JG, Parrish YK, Rogerio JW, Triche TJ, He Q, Wu L (Oct 2007). "Intrinsic retinoic acid receptor alpha-cyclin-dependent kinase-activating kinase signaling involves coordination of the restricted proliferation and granulocytic differentiation of human hematopoietic stem cells". Stem Cells. 25 (10): 2628–37. doi:10.1634/stemcells.2007-0264. PMID 17628022. S2CID 20497224.