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P48448 (AL3B2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aldehyde dehydrogenase family 3 member B2

EC=1.2.1.5
Alternative name(s):
Aldehyde dehydrogenase 8
Gene names
Name:ALDH3B2
Synonyms:ALDH8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length385 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 385385Aldehyde dehydrogenase family 3 member B2
PRO_0000056484

Regions

Nucleotide binding107 – 1126NAD By similarity

Sites

Active site1291 By similarity
Active site1631 By similarity

Natural variations

Natural variant501A → T.
Corresponds to variant rs3741178 [ dbSNP | Ensembl ].
VAR_022058
Natural variant521S → N. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1551888 [ dbSNP | Ensembl ].
VAR_058696
Natural variant2031H → R. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs6591270 [ dbSNP | Ensembl ].
VAR_058697
Natural variant2201S → G. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs2447571 [ dbSNP | Ensembl ].
VAR_058698
Natural variant2761R → W. Ref.3 Ref.6
Corresponds to variant rs17856219 [ dbSNP | Ensembl ].
VAR_058699
Natural variant3021S → R.
Corresponds to variant rs4646826 [ dbSNP | Ensembl ].
VAR_055699
Natural variant3611H → R. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1551886 [ dbSNP | Ensembl ].
VAR_058700

Experimental info

Sequence conflict21K → E in BAC03897. Ref.4
Sequence conflict47 – 493ALA → TLP in AAA85441. Ref.1
Sequence conflict47 – 493ALA → TLP no nucleotide entry Ref.2
Sequence conflict1321G → V in BAC03897. Ref.4
Sequence conflict2901S → R in AAA85441. Ref.1
Sequence conflict2901S → R no nucleotide entry Ref.2

Sequences

Sequence LengthMass (Da)Tools
P48448 [UniParc].

Last modified February 9, 2010. Version 3.
Checksum: 418879E834C3F9C6

FASTA38542,635
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
PIRJC5019.
RefSeqNP_000686.2. NM_000695.3.
NP_001026786.1. NM_001031615.1.
UniGeneHs.87539.

3D structure databases

ProteinModelPortalP48448.
SMRP48448. Positions 3-364.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106724. 1 interaction.
STRING9606.ENSP00000255084.

Chemistry

DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP48448.

Polymorphism databases

DMDM288558849.

Proteomic databases

PaxDbP48448.
PRIDEP48448.

Protocols and materials databases

DNASU222.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349015; ENSP00000255084; ENSG00000132746.
ENST00000530069; ENSP00000431595; ENSG00000132746.
GeneID222.
KEGGhsa:222.
UCSCuc001omr.3. human.

Organism-specific databases

CTD222.
GeneCardsGC11M067429.
HGNCHGNC:411. ALDH3B2.
HPAHPA045132.
MIM601917. gene.
neXtProtNX_P48448.
PharmGKBPA24700.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1012.
HOGENOMHOG000271515.
HOVERGENHBG050483.
InParanoidP48448.
KOK00129.
OMAGNEGFIY.
OrthoDBEOG73RBB3.
PhylomeDBP48448.
TreeFamTF314264.

Enzyme and pathway databases

UniPathwayUPA00780; UER00768.

Gene expression databases

ArrayExpressP48448.
BgeeP48448.
CleanExHS_ALDH3B2.
GenevestigatorP48448.

Family and domain databases

Gene3D3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProIPR016161. 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]
PANTHERPTHR11699:SF15. PTHR11699:SF15. 1 hit.
PfamPF00171. Aldedh. 1 hit.
[Graphical view]
SUPFAMSSF53720. SSF53720. 1 hit.
PROSITEPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALDH3B2.
GenomeRNAi222.
NextBio900.
PROP48448.
SOURCESearch...

Entry information

Entry nameAL3B2_HUMAN
AccessionPrimary (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: February 19, 2014
This is version 129 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM