ALDH1B1 (aldehyde dehydrogenase 1 family member B1)

Gene

• Entrez ID: 219
• Gene name: Aldehyde dehydrogenase 1 family member B1
• Gene symbol: ALDH1B1
• Synonyms: ALDH5, ALDHX
• Chromosome: 9
• Chromosome location: 9p13.1
• Summary: 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. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201458895	T>C	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036506	hsa-miR-1226-3p	CLASH	23622248
MIRT038303	hsa-miR-130b-5p	CLASH	23622248
MIRT040428	hsa-miR-615-3p	CLASH	23622248
MIRT043826	hsa-miR-328-3p	CLASH	23622248
MIRT044175	hsa-miR-99b-5p	CLASH	23622248
MIRT045046	hsa-miR-186-5p	CLASH	23622248
MIRT684154	hsa-miR-3165	HITS-CLIP	23313552
MIRT684155	hsa-miR-6745	HITS-CLIP	23313552
MIRT684156	hsa-miR-363-5p	HITS-CLIP	23313552
MIRT684157	hsa-miR-3656	HITS-CLIP	23313552
MIRT684158	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT684159	hsa-miR-544b	HITS-CLIP	23313552
MIRT684160	hsa-miR-4459	HITS-CLIP	23313552
MIRT684161	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT684162	hsa-miR-6765-3p	HITS-CLIP	23313552
MIRT684163	hsa-miR-3622b-3p	HITS-CLIP	23313552
MIRT684164	hsa-miR-3622a-3p	HITS-CLIP	23313552
MIRT684165	hsa-miR-383-5p	HITS-CLIP	23313552
MIRT692224	hsa-miR-7703	HITS-CLIP	23313552
MIRT692225	hsa-miR-6864-3p	HITS-CLIP	23313552
MIRT692226	hsa-miR-3672	HITS-CLIP	23313552
MIRT692227	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT692228	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT692229	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT692230	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT692231	hsa-miR-1273a	HITS-CLIP	23313552
MIRT692232	hsa-miR-661	HITS-CLIP	23313552
MIRT692233	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT692234	hsa-miR-4486	HITS-CLIP	23313552
MIRT692235	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT692236	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT692237	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT692238	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT692239	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT692240	hsa-miR-759	HITS-CLIP	23313552
MIRT692241	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT692242	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT692243	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT692244	hsa-miR-4797-5p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005975	Process	Carbohydrate metabolic process	NAS	1306115
GO:0006068	Process	Ethanol catabolic process	IEA
GO:0006069	Process	Ethanol oxidation	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043878	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA
GO:0051287	Function	NAD binding	ISS	12693930

Other IDs

• MIM: 100670
• HGNC: 407
• e!Ensembl: ENSG00000137124

Protein

• UniProt ID: P30837
• Protein name: Aldehyde dehydrogenase X, mitochondrial (EC 1.2.1.3) (Aldehyde dehydrogenase 5) (Aldehyde dehydrogenase family 1 member B1)
• Protein function: ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	45 → 508	Aldehyde dehydrogenase family	Family

• Sequence:

  MLRFLAPRLLSLQGRTARYSSAAALPSPILNPDIPYNQLFINNEWQDAVSKKTFPTVNPT
  TGEVIGHVAEGDRADVDRAVKAAREAFRLGSPWRRMDASERGRLLNLLADLVERDRVYLA
  SLETLDNGKPFQESYALDLDEVIKVYRYFAGWADKWHGKTIPMDGQHFCFTRHEPVGVCG
  QIIPWNFPLVMQGWKLAPALATGNTVVMKVAEQTPLSALYLASLIKEAGFPPGVVNIITG
  YGPTAGAAIAQHVDVDKVAFTGSTEVGHLIQKAAGDSNLKRVTLELGGKSPSIVLADADM
  EHAVEQCHEALFFNMGQCCCAGSRTFVEESIYNEFLERTVEKAKQRKVGNPFELDTQQGP
  QVDKEQFERVLGYIQLGQKEGAKLLCGGERFGERGFFIKPTVFGGVQDDMRIAKEEIFGP
  VQPLFKFKKIEEVVERANNTRYGLAAAVFTRDLDKAMYFTQALQAGTVWVNTYNIVTCHT
  PFGGFKESGNGRELGEDGLKAYTEVKTVTIKVPQKNS

• Sequence length: 517