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Protein

Aldehyde dehydrogenase X, mitochondrial

Gene

ALDH1B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

An aldehyde + NAD+ + H2O = a carboxylate + NADH.

Pathwayi: ethanol degradation

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:
  1. no protein annotated in this organism
  2. Aldehyde dehydrogenase, mitochondrial (ALDH2), Aldehyde dehydrogenase X, mitochondrial (ALDH1B1), Aldehyde dehydrogenase family 3 member B1 (ALDH3B1), Aldehyde dehydrogenase family 3 member B2 (ALDH3B2)
This subpathway is part of the pathway ethanol degradation, which is itself part of Alcohol metabolism.
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 keyPosition(s)DescriptionActionsGraphical viewLength
Sitei186Transition state stabilizerBy similarity1
Active sitei285Proton acceptorPROSITE-ProRule annotation1
Active sitei319NucleophilePROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi262 – 267NADBy similarity6

GO - Molecular functioni

GO - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • ethanol catabolic process Source: UniProtKB-UniPathway
  • ethanol oxidation Source: Reactome

Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BRENDAi1.2.1.3 2681
ReactomeiR-HSA-71384 Ethanol oxidation
SABIO-RKiP30837
UniPathwayiUPA00780; 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000137124.7
HGNCiHGNC:407 ALDH1B1
MIMi100670 gene
neXtProtiNX_P30837

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi219
PharmGKBiPA24695

Chemistry databases

ChEMBLiCHEMBL4881
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiALDH1B1
DMDMi311033472

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 17MitochondrionSequence analysisAdd BLAST17
ChainiPRO_000000717218 – 517Aldehyde dehydrogenase X, mitochondrialAdd BLAST500

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei51N6-acetyllysineBy similarity1
Modified residuei52N6-acetyllysine; alternateBy similarity1
Modified residuei52N6-succinyllysine; alternateBy similarity1
Modified residuei81N6-succinyllysineBy similarity1
Modified residuei364N6-acetyllysine; alternateBy similarity1
Modified residuei364N6-succinyllysine; alternateBy similarity1
Modified residuei383N6-acetyllysine; alternateBy similarity1
Modified residuei383N6-succinyllysine; alternateBy similarity1
Modified residuei399N6-acetyllysine; alternateBy similarity1
Modified residuei399N6-succinyllysine; alternateBy similarity1
Modified residuei414N6-acetyllysine; alternateBy similarity1
Modified residuei414N6-succinyllysine; alternateBy similarity1
Modified residuei426N6-acetyllysine; alternateBy similarity1
Modified residuei426N6-succinyllysine; alternateBy similarity1
Modified residuei429N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP30837
MaxQBiP30837
PaxDbiP30837
PeptideAtlasiP30837
PRIDEiP30837
ProteomicsDBi54740

2D gel databases

REPRODUCTION-2DPAGEiIPI00103467

PTM databases

iPTMnetiP30837
PhosphoSitePlusiP30837
SwissPalmiP30837

Expressioni

Tissue specificityi

Liver, testis and to a lesser extent in brain.

Gene expression databases

BgeeiENSG00000137124
CleanExiHS_ALDH1B1
ExpressionAtlasiP30837 baseline and differential
GenevisibleiP30837 HS

Organism-specific databases

HPAiHPA021037

Interactioni

Subunit structurei

Homotetramer.By similarity

Protein-protein interaction databases

BioGridi106721, 50 interactors
IntActiP30837, 21 interactors
MINTiP30837
STRINGi9606.ENSP00000366927

Chemistry databases

BindingDBiP30837

Structurei

3D structure databases

ProteinModelPortaliP30837
SMRiP30837
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2450 Eukaryota
COG1012 LUCA
HOGENOMiHOG000271505
HOVERGENiHBG000097
InParanoidiP30837
KOiK00128
OrthoDBiEOG091G05E8
PhylomeDBiP30837
TreeFamiTF300455

Family and domain databases

Gene3Di3.40.309.10, 1 hit
3.40.605.10, 2 hits
InterProiView 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
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
SUPFAMiSSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P30837-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:517
Mass (Da):57,206
Last modified:November 2, 2010 - v3
Checksum:iA12E4F48DD5E789D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18R → L in AAA96830 (PubMed:2061311).Curated1
Sequence conflicti164D → H in AAA96830 (PubMed:2061311).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00225786A → V in allele ALDHA1B1*2. 1 PublicationCorresponds to variant dbSNP:rs2228093EnsemblClinVar.1
Natural variantiVAR_002258107L → R in allele ALDHA1B1*3. 3 PublicationsCorresponds to variant dbSNP:rs2073478Ensembl.1
Natural variantiVAR_029891202T → I. Corresponds to variant dbSNP:rs4646773Ensembl.1
Natural variantiVAR_029892253V → 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
CCDSiCCDS6615.1
PIRiA40872
RefSeqiNP_000683.3, NM_000692.4
UniGeneiHs.436219
Hs.743532

Genome annotation databases

EnsembliENST00000377698; ENSP00000366927; ENSG00000137124
GeneIDi219
KEGGihsa:219
UCSCiuc004aay.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAL1B1_HUMAN
AccessioniPrimary (citable) accession number: P30837
Secondary accession number(s): B2R8F0, Q8WX76, Q9BV45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: November 2, 2010
Last modified: July 18, 2018
This is version 174 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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