Reviewed, UniProtKB/Swiss-Prot P30837 (AL1B1_HUMAN)

Names and origin

Protein names

Recommended name:
    Aldehyde dehydrogenase X, mitochondrial
    EC=1.2.1.3
Alternative name(s):
    Aldehyde dehydrogenase family 1 member B1
    Aldehyde dehydrogenase 5

Gene names

Name:	ALDH1B1
Synonyms:	ALDH5, ALDHX

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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 = an acid + 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
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Non-traceable author statement. Source: ProtInc oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
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. dbSNP rs2228093. Ref.7		VAR_002257
	Natural variant	107	1	L → R in allele ALDHA1B1*3. dbSNP rs2073478. Ref.7 Ref.3 Ref.4		VAR_002258
	Natural variant	202	1	T → I: dbSNP rs4646773.		VAR_029891
	Natural variant	253	1	M → V: dbSNP rs4878199. Ref.4		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)
	P30837-1 [UniParc]. Last modified January 9, 2007. Version 2. Checksum: A628E448D1E8689D	FASTA	517	57,238
	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 QHMDVDKVAF 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: 2061311] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. 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].
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-107. 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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-107 AND VAL-253.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[6]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[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: 8244338] [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.
UniGene	Hs.436219
3D structure databases
SMR	P30837. Positions 25-517.
ModBase	Search...
Protein-protein interaction databases
STRING	P30837.
PTM databases
PhosphoSite	P30837.
2-D gel databases
REPRODUCTION-2DPAGE	IPI00103467.
Proteomic databases
PRIDE	P30837.
Genome annotation databases
Ensembl	ENST00000377698; ENSP00000366927; ENSG00000137124; Homo sapiens. [Genome view]
GeneID	219.
KEGG	hsa:219.
Organism-specific databases
CTD	219.
GeneCards	GC09P038382.
H-InvDB	HIX0008051.
HGNC	HGNC:407. ALDH1B1.
HPA	HPA021037.
MIM	100670. gene.
PharmGKB	PA24695.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12020.
HOGENOM	HBG752218.
HOVERGEN	P30837.
InParanoid	P30837.
PhylomeDB	P30837.
Enzyme and pathway databases
BRENDA	1.2.1.3. 247.
Gene expression databases
ArrayExpress	P30837.
Bgee	P30837.
CleanEx	HS_ALDH1B1.
Genevestigator	P30837.
GermOnline	ENSG00000137124. Homo sapiens.
Family and domain databases
InterPro	IPR016161. Ald_DH/histidinol_DH. IPR016160. Ald_DH_CS. IPR016162. Ald_DH_N. IPR015590. Aldehyde_DH. [Graphical view]
Gene3D	G3DSA:3.40.605.10. Aldehyde_dehydrogenase_N. 1 hit.
PANTHER	PTHR11699. Aldehyde_dehyd. 1 hit.
Pfam	PF00171. Aldedh. 1 hit. [Graphical view]
PROSITE	PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH.
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:	January 9, 2007
Last modified:	January 19, 2010
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.