P48448 (AL3B2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Aldehyde dehydrogenase family 3 member B2
EC=1.2.1.5

Alternative name(s):
Aldehyde dehydrogenase 8

Gene names

Name:	ALDH3B2
Synonyms:	ALDH8

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	385 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Catalytic activity	An aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H.
Pathway	Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2.
Tissue specificity	Salivary gland.
Sequence similarities	Belongs to the aldehyde dehydrogenase family.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Ligand	NAD
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	alcohol metabolic process Traceable author statement Ref.2. Source: ProtInc cellular aldehyde metabolic process Inferred from electronic annotation. Source: InterPro ethanol catabolic process Inferred from electronic annotation. Source: UniProtKB-UniPathway lipid metabolic process Traceable author statement Ref.2. Source: ProtInc
Molecular_function	3-chloroallyl aldehyde dehydrogenase activity Traceable author statement Ref.2. Source: ProtInc aldehyde dehydrogenase [NAD(P)+] 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
	Chain	1 – 385	385	Aldehyde dehydrogenase family 3 member B2		PRO_0000056484
Regions
	Nucleotide binding	107 – 112	6	NAD By similarity
Sites
	Active site	129	1	By similarity
	Active site	163	1	By similarity
Natural variations
	Natural variant	50	1	A → T. Corresponds to variant rs3741178 [ dbSNP | Ensembl ].		VAR_022058
	Natural variant	52	1	S → N. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1551888 [ dbSNP | Ensembl ].		VAR_058696
	Natural variant	203	1	H → R. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Corresponds to variant rs6591270 [ dbSNP | Ensembl ].		VAR_058697
	Natural variant	220	1	S → G. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Corresponds to variant rs2447571 [ dbSNP | Ensembl ].		VAR_058698
	Natural variant	276	1	R → W. Ref.3 Ref.6 Corresponds to variant rs17856219 [ dbSNP | Ensembl ].		VAR_058699
	Natural variant	302	1	S → R. Corresponds to variant rs4646826 [ dbSNP | Ensembl ].		VAR_055699
	Natural variant	361	1	H → R. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1551886 [ dbSNP | Ensembl ].		VAR_058700
Experimental info
	Sequence conflict	2	1	K → E in BAC03897. Ref.4
	Sequence conflict	47 – 49	3	ALA → TLP in AAA85441. Ref.1
	Sequence conflict	47 – 49	3	ALA → TLP no nucleotide entry Ref.2
	Sequence conflict	132	1	G → V in BAC03897. Ref.4
	Sequence conflict	290	1	S → R in AAA85441. Ref.1
	Sequence conflict	290	1	S → R no nucleotide entry Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P48448 [UniParc]. Last modified February 9, 2010. Version 3. Checksum: 418879E834C3F9C6	FASTA	385	42,635
	10 20 30 40 50 60 MKDEPRSTNL FMKLDSVFIW KEPFGLVLII APWNYPLNLT LVLLVGALAA GSCVVLKPSE 70 80 90 100 110 120 ISQGTEKVLA EVLPQYLDQS CFAVVLGGPQ ETGQLLEHKL DYIFFTGSPR VGKIVMTAAT 130 140 150 160 170 180 KHLTPVTLEL GGKNPCYVDD NCDPQTVANR VAWFCYFNAG QTCVAPDYVL CSPEMQERLL 190 200 210 220 230 240 PALQSTITRF YGDDPQSSPN LGHIINQKQF QRLRALLGCS RVAIGGQSNE SDRYIAPTVL 250 260 270 280 290 300 VDVQETEPVM QEEIFGPILP IVNVQSVDEA IKFINRQEKP LALYAFSNSS QVVNQMLERT 310 320 330 340 350 360 SSGSFGGNEG FTYISLLSVP FGGVGHSGMG RYHGKFTFDT FSHHRTCLLA PSGLEKLKEI 370 380 HYPPYTDWNQ QLLRWGMGSQ SCTLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes." Hsu L.C., Chang W.-C., Lin S.W., Yoshida A. Adv. Exp. Med. Biol. 372:159-168(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASN-52; ARG-203; GLY-220 AND ARG-361. Tissue: Salivary gland.
[2]	"Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family." Hsu L.C., Chang W.-C. Gene 174:319-322(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASN-52; ARG-203; GLY-220 AND ARG-361. Tissue: Salivary gland.
[3]	"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], VARIANTS ARG-203; GLY-220 AND TRP-276.
[4]	"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 ASN-52; ARG-203; GLY-220 AND ARG-361. Tissue: Placenta.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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], VARIANTS ARG-203; GLY-220 AND TRP-276. Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U37519 mRNA. Translation: AAA85441.1. BT006810 mRNA. Translation: AAP35456.1. AK092464 mRNA. Translation: BAC03897.1. AP003385 mRNA. No translation available. BC007685 mRNA. Translation: AAH07685.1.
IPI	IPI00009744.
PIR	JC5019.
RefSeq	NP_000686.2. NM_000695.3. NP_001026786.1. NM_001031615.1.
UniGene	Hs.87539.
3D structure databases
ProteinModelPortal	P48448.
SMR	P48448. Positions 3-364.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000255084.
PTM databases
PhosphoSite	P48448.
Polymorphism databases
DMDM	288558849.
Proteomic databases
PaxDb	P48448.
PRIDE	P48448.
Protocols and materials databases
DNASU	222.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000349015; ENSP00000255084; ENSG00000132746. ENST00000530069; ENSP00000431595; ENSG00000132746.
GeneID	222.
KEGG	hsa:222.
UCSC	uc001omr.3. human.
Organism-specific databases
CTD	222.
GeneCards	GC11M067429.
HGNC	HGNC:411. ALDH3B2.
HPA	HPA045132.
MIM	601917. gene.
neXtProt	NX_P48448.
PharmGKB	PA24700.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1012.
HOGENOM	HOG000271515.
HOVERGEN	HBG050483.
InParanoid	P48448.
KO	K00129.
OMA	DEPRSTN.
OrthoDB	EOG4PNXGT.
PhylomeDB	P48448.
Enzyme and pathway databases
UniPathway	UPA00780; UER00768.
Gene expression databases
ArrayExpress	P48448.
Bgee	P48448.
CleanEx	HS_ALDH3B2.
Genevestigator	P48448.
GermOnline	ENSG00000132746. 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. IPR012394. Aldehyde_DH_NAD(P). [Graphical view]
PANTHER	PTHR11699:SF15. PTHR11699:SF15. 1 hit.
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	CHEMBL2811.
DrugBank	DB00157. NADH.
GenomeRNAi	222.
NextBio	900.
SOURCE	Search...

Entry information

Entry name

AL3B2_HUMAN

Accession

Primary (citable) accession number: P48448
Secondary accession number(s): Q53Y98, Q8NAL5, Q96IB2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	February 9, 2010
Last modified:	May 1, 2013
This is version 123 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.