UniProtKB - P30837 (AL1B1_HUMAN)
Protein
Aldehyde dehydrogenase X, mitochondrial
Gene
ALDH1B1
Organism
Homo sapiens (Human)
Status
Functioni
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.
Catalytic activityi
- EC:1.2.1.3
: ethanol degradation Pathwayi
This protein is involved in step 2 of the subpathway that synthesizes acetate from ethanol.Proteins known to be involved in the 2 steps of the subpathway in this organism are:
- no protein annotated in this organism
- Aldehyde dehydrogenase family 3 member B1 (ALDH3B1), Aldehyde dehydrogenase, mitochondrial (ALDH2), Aldehyde dehydrogenase X, mitochondrial (ALDH1B1), Aldehyde dehydrogenase family 3 member B2 (ALDH3B2)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetate from ethanol, the pathway ethanol degradation and in Alcohol metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 186 | Transition state stabilizerBy similarity | 1 | |
Active sitei | 285 | Proton acceptorPROSITE-ProRule annotation | 1 | |
Active sitei | 319 | NucleophilePROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 262 – 267 | NADBy similarity | 6 |
GO - Molecular functioni
- aldehyde dehydrogenase (NAD+) activity Source: GO_Central
- glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity Source: UniProtKB-EC
- NAD binding Source: CAFA
GO - Biological processi
- carbohydrate metabolic process Source: ProtInc
- ethanol catabolic process Source: UniProtKB-UniPathway
- ethanol oxidation Source: Reactome
Keywordsi
Molecular function | Oxidoreductase |
Ligand | NAD |
Enzyme and pathway databases
BRENDAi | 1.2.1.3, 2681 |
PathwayCommonsi | P30837 |
Reactomei | R-HSA-71384, Ethanol oxidation |
SABIO-RKi | P30837 |
UniPathwayi | UPA00780;UER00768 |
Names & Taxonomyi
Protein namesi | Recommended name: Aldehyde dehydrogenase X, mitochondrial (EC:1.2.1.3)Alternative name(s): Aldehyde dehydrogenase 5 Aldehyde dehydrogenase family 1 member B1 |
Gene namesi | Name:ALDH1B1 Synonyms:ALDH5, ALDHX |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000137124.7 |
HGNCi | HGNC:407, ALDH1B1 |
MIMi | 100670, gene |
neXtProti | NX_P30837 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 219 |
PharmGKBi | PA24695 |
Miscellaneous databases
Pharosi | P30837, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4881 |
DrugBanki | DB00157, NADH |
Polymorphism and mutation databases
BioMutai | ALDH1B1 |
DMDMi | 311033472 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 17 | MitochondrionSequence analysisAdd BLAST | 17 | |
ChainiPRO_0000007172 | 18 – 517 | Aldehyde dehydrogenase X, mitochondrialAdd BLAST | 500 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 51 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 52 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 52 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 81 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 364 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 364 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 383 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 383 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 399 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 399 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 414 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 414 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 426 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 426 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 429 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | P30837 |
jPOSTi | P30837 |
MassIVEi | P30837 |
MaxQBi | P30837 |
PaxDbi | P30837 |
PeptideAtlasi | P30837 |
PRIDEi | P30837 |
ProteomicsDBi | 54740 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00103467 |
PTM databases
iPTMneti | P30837 |
PhosphoSitePlusi | P30837 |
SwissPalmi | P30837 |
Expressioni
Tissue specificityi
Liver, testis and to a lesser extent in brain.
Gene expression databases
Bgeei | ENSG00000137124, Expressed in buccal mucosa cell and 196 other tissues |
ExpressionAtlasi | P30837, baseline and differential |
Genevisiblei | P30837, HS |
Organism-specific databases
HPAi | ENSG00000137124, Tissue enhanced (smooth) |
Interactioni
Subunit structurei
Homotetramer.
By similarityProtein-protein interaction databases
BioGRIDi | 106721, 93 interactors |
IntActi | P30837, 38 interactors |
MINTi | P30837 |
STRINGi | 9606.ENSP00000366927 |
Chemistry databases
BindingDBi | P30837 |
Miscellaneous databases
RNActi | P30837, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the aldehyde dehydrogenase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2450, Eukaryota |
HOGENOMi | CLU_005391_0_2_1 |
InParanoidi | P30837 |
OrthoDBi | 153834at2759 |
PhylomeDBi | P30837 |
TreeFami | TF300455 |
Family and domain databases
Gene3Di | 3.40.309.10, 1 hit 3.40.605.10, 1 hit |
InterProi | View protein in InterPro IPR016161, Ald_DH/histidinol_DH IPR016163, Ald_DH_C IPR016160, Ald_DH_CS_CYS IPR029510, Ald_DH_CS_GLU IPR016162, Ald_DH_N IPR015590, Aldehyde_DH_dom |
Pfami | View protein in Pfam PF00171, Aldedh, 1 hit |
SUPFAMi | SSF53720, SSF53720, 1 hit |
PROSITEi | View protein in PROSITE PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P30837-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLRFLAPRLL SLQGRTARYS SAAALPSPIL NPDIPYNQLF INNEWQDAVS
60 70 80 90 100
KKTFPTVNPT TGEVIGHVAE GDRADVDRAV KAAREAFRLG SPWRRMDASE
110 120 130 140 150
RGRLLNLLAD LVERDRVYLA SLETLDNGKP FQESYALDLD EVIKVYRYFA
160 170 180 190 200
GWADKWHGKT IPMDGQHFCF TRHEPVGVCG QIIPWNFPLV MQGWKLAPAL
210 220 230 240 250
ATGNTVVMKV AEQTPLSALY LASLIKEAGF PPGVVNIITG YGPTAGAAIA
260 270 280 290 300
QHVDVDKVAF TGSTEVGHLI QKAAGDSNLK RVTLELGGKS PSIVLADADM
310 320 330 340 350
EHAVEQCHEA LFFNMGQCCC AGSRTFVEES IYNEFLERTV EKAKQRKVGN
360 370 380 390 400
PFELDTQQGP QVDKEQFERV LGYIQLGQKE GAKLLCGGER FGERGFFIKP
410 420 430 440 450
TVFGGVQDDM RIAKEEIFGP VQPLFKFKKI EEVVERANNT RYGLAAAVFT
460 470 480 490 500
RDLDKAMYFT QALQAGTVWV NTYNIVTCHT PFGGFKESGN GRELGEDGLK
510
AYTEVKTVTI KVPQKNS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0U1RQK9 | A0A0U1RQK9_HUMAN | Aldehyde dehydrogenase X, mitochond... | ALDH1B1 | 130 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 18 | R → L in AAA96830 (PubMed:2061311).Curated | 1 | |
Sequence conflicti | 164 | D → H in AAA96830 (PubMed:2061311).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_002257 | 86 | A → V in allele ALDHA1B1*2. 1 PublicationCorresponds to variant dbSNP:rs2228093EnsemblClinVar. | 1 | |
Natural variantiVAR_002258 | 107 | L → R in allele ALDHA1B1*3. 3 PublicationsCorresponds to variant dbSNP:rs2073478Ensembl. | 1 | |
Natural variantiVAR_029891 | 202 | T → I. Corresponds to variant dbSNP:rs4646773Ensembl. | 1 | |
Natural variantiVAR_029892 | 253 | V → M4 PublicationsCorresponds to variant dbSNP:rs4878199EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M63967 Genomic DNA Translation: AAA96830.1 BT007418 mRNA Translation: AAP36086.1 AK313344 mRNA Translation: BAG36147.1 AL135785 Genomic DNA No translation available. BC001619 mRNA Translation: AAH01619.1 |
CCDSi | CCDS6615.1 |
PIRi | A40872 |
RefSeqi | NP_000683.3, NM_000692.4 |
Genome annotation databases
Ensembli | ENST00000377698; ENSP00000366927; ENSG00000137124 |
GeneIDi | 219 |
KEGGi | hsa:219 |
UCSCi | uc004aay.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M63967 Genomic DNA Translation: AAA96830.1 BT007418 mRNA Translation: AAP36086.1 AK313344 mRNA Translation: BAG36147.1 AL135785 Genomic DNA No translation available. BC001619 mRNA Translation: AAH01619.1 |
CCDSi | CCDS6615.1 |
PIRi | A40872 |
RefSeqi | NP_000683.3, NM_000692.4 |
3D structure databases
SMRi | P30837 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106721, 93 interactors |
IntActi | P30837, 38 interactors |
MINTi | P30837 |
STRINGi | 9606.ENSP00000366927 |
Chemistry databases
BindingDBi | P30837 |
ChEMBLi | CHEMBL4881 |
DrugBanki | DB00157, NADH |
PTM databases
iPTMneti | P30837 |
PhosphoSitePlusi | P30837 |
SwissPalmi | P30837 |
Polymorphism and mutation databases
BioMutai | ALDH1B1 |
DMDMi | 311033472 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00103467 |
Proteomic databases
EPDi | P30837 |
jPOSTi | P30837 |
MassIVEi | P30837 |
MaxQBi | P30837 |
PaxDbi | P30837 |
PeptideAtlasi | P30837 |
PRIDEi | P30837 |
ProteomicsDBi | 54740 |
Protocols and materials databases
Antibodypediai | 12074, 271 antibodies |
DNASUi | 219 |
Genome annotation databases
Ensembli | ENST00000377698; ENSP00000366927; ENSG00000137124 |
GeneIDi | 219 |
KEGGi | hsa:219 |
UCSCi | uc004aay.4, human |
Organism-specific databases
CTDi | 219 |
DisGeNETi | 219 |
EuPathDBi | HostDB:ENSG00000137124.7 |
GeneCardsi | ALDH1B1 |
HGNCi | HGNC:407, ALDH1B1 |
HPAi | ENSG00000137124, Tissue enhanced (smooth) |
MIMi | 100670, gene |
neXtProti | NX_P30837 |
PharmGKBi | PA24695 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2450, Eukaryota |
HOGENOMi | CLU_005391_0_2_1 |
InParanoidi | P30837 |
OrthoDBi | 153834at2759 |
PhylomeDBi | P30837 |
TreeFami | TF300455 |
Enzyme and pathway databases
UniPathwayi | UPA00780;UER00768 |
BRENDAi | 1.2.1.3, 2681 |
PathwayCommonsi | P30837 |
Reactomei | R-HSA-71384, Ethanol oxidation |
SABIO-RKi | P30837 |
Miscellaneous databases
BioGRID-ORCSi | 219, 3 hits in 844 CRISPR screens |
ChiTaRSi | ALDH1B1, human |
GeneWikii | ALDH1B1 |
GenomeRNAii | 219 |
Pharosi | P30837, Tbio |
PROi | PR:P30837 |
RNActi | P30837, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137124, Expressed in buccal mucosa cell and 196 other tissues |
ExpressionAtlasi | P30837, baseline and differential |
Genevisiblei | P30837, HS |
Family and domain databases
Gene3Di | 3.40.309.10, 1 hit 3.40.605.10, 1 hit |
InterProi | View protein in InterPro IPR016161, Ald_DH/histidinol_DH IPR016163, Ald_DH_C IPR016160, Ald_DH_CS_CYS IPR029510, Ald_DH_CS_GLU IPR016162, Ald_DH_N IPR015590, Aldehyde_DH_dom |
Pfami | View protein in Pfam PF00171, Aldedh, 1 hit |
SUPFAMi | SSF53720, SSF53720, 1 hit |
PROSITEi | View protein in PROSITE PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AL1B1_HUMAN | |
Accessioni | P30837Primary (citable) accession number: P30837 Secondary accession number(s): B2R8F0, Q8WX76, Q9BV45 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | November 2, 2010 | |
Last modified: | December 2, 2020 | |
This is version 192 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations