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ALDH1B1 aldehyde dehydrogenase 1 family member B1 [ Homo sapiens (human) ]

Gene ID: 219, updated on 1-Jun-2020

Summary

Official Symbol
ALDH1B1provided by HGNC
Official Full Name
aldehyde dehydrogenase 1 family member B1provided by HGNC
Primary source
HGNC:HGNC:407
See related
Ensembl:ENSG00000137124 MIM:100670
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALDH5; ALDHX
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]
Expression
Broad expression in liver (RPKM 58.4), kidney (RPKM 38.9) and 19 other tissues See more
Orthologs

Genomic context

See ALDH1B1 in Genome Data Viewer
Location:
9p13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (38392702..38398665)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (38392661..38398662)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987064 Neighboring gene uncharacterized LOC107987065 Neighboring gene uncharacterized LOC105376040 Neighboring gene insulin like growth factor binding protein like 1 Neighboring gene uncharacterized LOC105376041 Neighboring gene VISTA enhancer hs1390

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2230

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
aldehyde dehydrogenase (NAD) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
ethanol catabolic process IEA
Inferred from Electronic Annotation
more info
 
ethanol oxidation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
aldehyde dehydrogenase X, mitochondrial
Names
ALDH class 2
acetaldehyde dehydrogenase 5
aldehyde dehydrogenase 5
epididymis secretory sperm binding protein
NP_000683.3
XP_011516104.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012253.1 RefSeqGene

    Range
    4998..10957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000692.5NP_000683.3  aldehyde dehydrogenase X, mitochondrial precursor

    See identical proteins and their annotated locations for NP_000683.3

    Status: REVIEWED

    Source sequence(s)
    AI803741, AK313344, AL135785, DA599259, DB256700
    Consensus CDS
    CCDS6615.1
    UniProtKB/Swiss-Prot
    P30837
    Related
    ENSP00000366927.3, ENST00000377698.4
    Conserved Domains (1) summary
    cd07141
    Location:31511
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    38392702..38398665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517802.2XP_011516104.1  aldehyde dehydrogenase X, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011516104.1

    Conserved Domains (1) summary
    cd07141
    Location:31511
    ALDH_F1AB_F2_RALDH1; NAD+-dependent retinal dehydrogenase 1, ALDH families 1A, 1B, and 2-like
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