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P30837

- AL1B1_HUMAN

UniProt

P30837 - AL1B1_HUMAN

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Protein

Aldehyde dehydrogenase X, mitochondrial

Gene

ALDH1B1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei186 – 1861Transition state stabilizerBy similarity
Active sitei285 – 2851Proton acceptorPROSITE-ProRule annotation
Active sitei319 – 3191NucleophilePROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi262 – 2676NADBy similarity

GO - Molecular functioni

  1. aldehyde dehydrogenase (NAD) activity Source: UniProtKB-EC

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. ethanol catabolic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

SABIO-RKP30837.
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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:407. ALDH1B1.

Subcellular locationi

GO - Cellular componenti

  1. intracellular membrane-bounded organelle Source: HPA
  2. mitochondrion Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24695.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1717MitochondrionSequence AnalysisAdd
BLAST
Chaini18 – 517500Aldehyde dehydrogenase X, mitochondrialPRO_0000007172Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei51 – 511N6-acetyllysineBy similarity
Modified residuei52 – 521N6-acetyllysine; alternateBy similarity
Modified residuei52 – 521N6-succinyllysine; alternateBy similarity
Modified residuei81 – 811N6-succinyllysineBy similarity
Modified residuei364 – 3641N6-acetyllysine; alternateBy similarity
Modified residuei364 – 3641N6-succinyllysine; alternateBy similarity
Modified residuei383 – 3831N6-acetyllysine; alternateBy similarity
Modified residuei383 – 3831N6-succinyllysine; alternateBy similarity
Modified residuei399 – 3991N6-acetyllysine; alternateBy similarity
Modified residuei399 – 3991N6-succinyllysine; alternateBy similarity
Modified residuei414 – 4141N6-acetyllysine; alternateBy similarity
Modified residuei414 – 4141N6-succinyllysine; alternateBy similarity
Modified residuei426 – 4261N6-acetyllysine; alternateBy similarity
Modified residuei426 – 4261N6-succinyllysine; alternateBy similarity
Modified residuei429 – 4291N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP30837.
PaxDbiP30837.
PRIDEiP30837.

2D gel databases

REPRODUCTION-2DPAGEIPI00103467.

PTM databases

PhosphoSiteiP30837.

Expressioni

Tissue specificityi

Liver, testis and to a lesser extent in brain.

Gene expression databases

BgeeiP30837.
CleanExiHS_ALDH1B1.
ExpressionAtlasiP30837. baseline and differential.
GenevestigatoriP30837.

Organism-specific databases

HPAiHPA021037.

Interactioni

Subunit structurei

Homotetramer.By similarity

Protein-protein interaction databases

BioGridi106721. 19 interactions.
IntActiP30837. 6 interactions.
STRINGi9606.ENSP00000366927.

Structurei

3D structure databases

ProteinModelPortaliP30837.
SMRiP30837. Positions 32-517.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1012.
HOGENOMiHOG000271505.
HOVERGENiHBG000097.
InParanoidiP30837.
KOiK00128.
OrthoDBiEOG7PS1F7.
PhylomeDBiP30837.
TreeFamiTF300455.

Family and domain databases

Gene3Di3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProiIPR016161. 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.
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti18 – 181R → L in AAA96830. (PubMed:2061311)Curated
Sequence conflicti164 – 1641D → H in AAA96830. (PubMed:2061311)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti86 – 861A → V in allele ALDHA1B1*2. 1 Publication
Corresponds to variant rs2228093 [ dbSNP | Ensembl ].
VAR_002257
Natural varianti107 – 1071L → R in allele ALDHA1B1*3. 3 Publications
Corresponds to variant rs2073478 [ dbSNP | Ensembl ].
VAR_002258
Natural varianti202 – 2021T → I.
Corresponds to variant rs4646773 [ dbSNP | Ensembl ].
VAR_029891
Natural varianti253 – 2531V → M.4 Publications
Corresponds to variant rs4878199 [ dbSNP | Ensembl ].
VAR_029892

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M63967 Genomic DNA. Translation: AAA96830.1.
BT007418 mRNA. Translation: AAP36086.1.
AK313344 mRNA. Translation: BAG36147.1.
AL135785 Genomic DNA. Translation: CAD13246.1.
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.3. human.

Polymorphism databases

DMDMi311033472.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M63967 Genomic DNA. Translation: AAA96830.1 .
BT007418 mRNA. Translation: AAP36086.1 .
AK313344 mRNA. Translation: BAG36147.1 .
AL135785 Genomic DNA. Translation: CAD13246.1 .
BC001619 mRNA. Translation: AAH01619.1 .
CCDSi CCDS6615.1.
PIRi A40872.
RefSeqi NP_000683.3. NM_000692.4.
UniGenei Hs.436219.
Hs.743532.

3D structure databases

ProteinModelPortali P30837.
SMRi P30837. Positions 32-517.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106721. 19 interactions.
IntActi P30837. 6 interactions.
STRINGi 9606.ENSP00000366927.

Chemistry

ChEMBLi CHEMBL4881.

PTM databases

PhosphoSitei P30837.

Polymorphism databases

DMDMi 311033472.

2D gel databases

REPRODUCTION-2DPAGE IPI00103467.

Proteomic databases

MaxQBi P30837.
PaxDbi P30837.
PRIDEi P30837.

Protocols and materials databases

DNASUi 219.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000377698 ; ENSP00000366927 ; ENSG00000137124 .
GeneIDi 219.
KEGGi hsa:219.
UCSCi uc004aay.3. human.

Organism-specific databases

CTDi 219.
GeneCardsi GC09P038392.
H-InvDB HIX0008051.
HGNCi HGNC:407. ALDH1B1.
HPAi HPA021037.
MIMi 100670. gene.
neXtProti NX_P30837.
PharmGKBi PA24695.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1012.
HOGENOMi HOG000271505.
HOVERGENi HBG000097.
InParanoidi P30837.
KOi K00128.
OrthoDBi EOG7PS1F7.
PhylomeDBi P30837.
TreeFami TF300455.

Enzyme and pathway databases

UniPathwayi UPA00780 ; UER00768 .
SABIO-RK P30837.

Miscellaneous databases

ChiTaRSi ALDH1B1. human.
GeneWikii ALDH1B1.
GenomeRNAii 219.
NextBioi 886.
PROi P30837.
SOURCEi Search...

Gene expression databases

Bgeei P30837.
CleanExi HS_ALDH1B1.
ExpressionAtlasi P30837. baseline and differential.
Genevestigatori P30837.

Family and domain databases

Gene3Di 3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProi 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.
[Graphical view ]
Pfami PF00171. Aldedh. 1 hit.
[Graphical view ]
SUPFAMi SSF53720. SSF53720. 1 hit.
PROSITEi PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a new functional human aldehyde dehydrogenase gene."
    Hsu L.C., Chang W.-C.
    J. Biol. Chem. 266:12257-12265(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-253.
    Tissue: Testis.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-253.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-107 AND MET-253.
    Tissue: Testis.
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-107.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-253.
    Tissue: Eye.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene."
    Sherman D., Dave V., Hsu L.C., Peters T.J., Yoshida A.
    Hum. Genet. 92:477-480(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-86 AND ARG-107.

Entry informationi

Entry nameiAL1B1_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 141 of the entry and version 3 of the sequence. [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

External Data

Dasty 3