P30837 (AL1B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aldehyde dehydrogenase X, mitochondrial
EC=1.2.1.3

Alternative name(s):
Aldehyde dehydrogenase 5
Aldehyde dehydrogenase family 1 member B1

Gene names

Name:	ALDH1B1
Synonyms:	ALDH5, ALDHX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	517 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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 activity	An aldehyde + NAD+ + H2O = a carboxylate + NADH.
Pathway	Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
Subunit structure	Homotetramer By similarity.
Subcellular location	Mitochondrion matrix.
Tissue specificity	Liver, testis and to a lesser extent in brain.
Sequence similarities	Belongs to the aldehyde dehydrogenase family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	NAD
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Non-traceable author statement PubMed 1306115. Source: ProtInc ethanol catabolic process Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular_function	aldehyde dehydrogenase (NAD) activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 17	17	Mitochondrion Potential
	Chain	18 – 517	500	Aldehyde dehydrogenase X, mitochondrial		PRO_0000007172
Regions
	Nucleotide binding	262 – 267	6	NAD By similarity
Sites
	Active site	285	1	Proton acceptor By similarity
	Active site	319	1	Nucleophile By similarity
	Site	186	1	Transition state stabilizer By similarity
Natural variations
	Natural variant	86	1	A → V in allele ALDHA1B1*2. Ref.7 Corresponds to variant rs2228093 [ dbSNP | Ensembl ].		VAR_002257
	Natural variant	107	1	L → R in allele ALDHA1B1*3. Ref.3 Ref.4 Ref.7 Corresponds to variant rs2073478 [ dbSNP | Ensembl ].		VAR_002258
	Natural variant	202	1	T → I. Corresponds to variant rs4646773 [ dbSNP | Ensembl ].		VAR_029891
	Natural variant	253	1	V → M. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs4878199 [ dbSNP | Ensembl ].		VAR_029892
Experimental info
	Sequence conflict	18	1	R → L in AAA96830. Ref.1
	Sequence conflict	164	1	D → H in AAA96830. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P30837 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: A12E4F48DD5E789D	FASTA	517	57,206
	10 20 30 40 50 60 MLRFLAPRLL SLQGRTARYS SAAALPSPIL NPDIPYNQLF INNEWQDAVS KKTFPTVNPT 70 80 90 100 110 120 TGEVIGHVAE GDRADVDRAV KAAREAFRLG SPWRRMDASE RGRLLNLLAD LVERDRVYLA 130 140 150 160 170 180 SLETLDNGKP FQESYALDLD EVIKVYRYFA GWADKWHGKT IPMDGQHFCF TRHEPVGVCG 190 200 210 220 230 240 QIIPWNFPLV MQGWKLAPAL ATGNTVVMKV AEQTPLSALY LASLIKEAGF PPGVVNIITG 250 260 270 280 290 300 YGPTAGAAIA QHVDVDKVAF TGSTEVGHLI QKAAGDSNLK RVTLELGGKS PSIVLADADM 310 320 330 340 350 360 EHAVEQCHEA LFFNMGQCCC AGSRTFVEES IYNEFLERTV EKAKQRKVGN PFELDTQQGP 370 380 390 400 410 420 QVDKEQFERV LGYIQLGQKE GAKLLCGGER FGERGFFIKP TVFGGVQDDM RIAKEEIFGP 430 440 450 460 470 480 VQPLFKFKKI EEVVERANNT RYGLAAAVFT RDLDKAMYFT QALQAGTVWV NTYNIVTCHT 490 500 510 PFGGFKESGN GRELGEDGLK AYTEVKTVTI KVPQKNS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00103467.
PIR	A40872.
RefSeq	NP_000683.3. NM_000692.4.
UniGene	Hs.436219.
3D structure databases
ProteinModelPortal	P30837.
SMR	P30837. Positions 32-517.
ModBase	Search...
Protein-protein interaction databases
IntAct	P30837. 5 interactions.
STRING	9606.ENSP00000366927.
PTM databases
PhosphoSite	P30837.
Polymorphism databases
DMDM	311033472.
2D gel databases
REPRODUCTION-2DPAGE	IPI00103467.
Proteomic databases
PaxDb	P30837.
PRIDE	P30837.
Protocols and materials databases
DNASU	219.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000377698; ENSP00000366927; ENSG00000137124.
GeneID	219.
KEGG	hsa:219.
UCSC	uc004aay.3. human.
Organism-specific databases
CTD	219.
GeneCards	GC09P038392.
H-InvDB	HIX0008051.
HGNC	HGNC:407. ALDH1B1.
HPA	HPA021037.
MIM	100670. gene.
neXtProt	NX_P30837.
PharmGKB	PA24695.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1012.
HOGENOM	HOG000271505.
HOVERGEN	HBG000097.
InParanoid	P30837.
KO	K00128.
OrthoDB	EOG41ZF9P.
Enzyme and pathway databases
SABIO-RK	P30837.
UniPathway	UPA00780; UER00768.
Gene expression databases
ArrayExpress	P30837.
Bgee	P30837.
CleanEx	HS_ALDH1B1.
Genevestigator	P30837.
GermOnline	ENSG00000137124. Homo sapiens.
Family and domain databases
Gene3D	3.40.309.10. 1 hit. 3.40.605.10. 1 hit.
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016163. Ald_DH_C. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH_dom. [Graphical view]
Pfam	PF00171. Aldedh. 1 hit. [Graphical view]
SUPFAM	SSF53720. Aldehyde_DH/Histidinol_DH. 1 hit.
PROSITE	PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL4881.
ChiTaRS	ALDH1B1. human.
DrugBank	DB00157. NADH.
GenomeRNAi	219.
NextBio	886.
SOURCE	Search...

Entry information

Entry name

AL1B1_HUMAN

Accession

Primary (citable) accession number: P30837
Secondary accession number(s): B2R8F0, Q8WX76, Q9BV45

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 127 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.