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Protein

Aldehyde dehydrogenase X, mitochondrial

Gene

ALDH1B1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • aldehyde dehydrogenase (NAD) activity Source: GO_Central
  • NAD binding Source: CAFA

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

HGNCiHGNC:407. ALDH1B1.

Subcellular locationi

GO - Cellular componenti

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.

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. 18 interactors.
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

Gene3Di3.40.605.10. 1 hit.
InterProiView protein in InterPro
IPR016161. Ald_DH/histidinol_DH.
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:rs2228093Ensembl.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:rs4878199Ensembl.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: August 30, 2017
This is version 169 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