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Protein

Fatty aldehyde dehydrogenase

Gene

ALDH3A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.1 Publication

Catalytic activityi

An aldehyde + NAD+ + H2O = a carboxylate + NADH.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei207PROSITE-ProRule annotation1
Active sitei241PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi185 – 190NADSequence analysis6

GO - Molecular functioni

  • 3-chloroallyl aldehyde dehydrogenase activity Source: GO_Central
  • aldehyde dehydrogenase (NAD) activity Source: UniProtKB
  • aldehyde dehydrogenase [NAD(P)+] activity Source: InterPro
  • long-chain-alcohol oxidase activity Source: UniProtKB
  • long-chain-aldehyde dehydrogenase activity Source: UniProtKB
  • medium-chain-aldehyde dehydrogenase activity Source: UniProtKB

GO - Biological processi

  • cellular aldehyde metabolic process Source: UniProtKB
  • central nervous system development Source: UniProtKB
  • epidermis development Source: UniProtKB
  • fatty acid alpha-oxidation Source: Reactome
  • oxidation-reduction process Source: UniProtKB
  • peripheral nervous system development Source: UniProtKB
  • phytol metabolic process Source: UniProtKB
  • sesquiterpenoid metabolic process Source: UniProtKB
  • sphingolipid biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS01061-MONOMER.
ZFISH:HS01061-MONOMER.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.
R-HSA-389599. Alpha-oxidation of phytanate.
SABIO-RKP51648.

Chemistry databases

SwissLipidsiSLP:000000198.

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty aldehyde dehydrogenase (EC:1.2.1.3)
Alternative name(s):
Aldehyde dehydrogenase 10
Aldehyde dehydrogenase family 3 member A2
Microsomal aldehyde dehydrogenase
Gene namesi
Name:ALDH3A2
Synonyms:ALDH10, FALDH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:403. ALDH3A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 463CytoplasmicAdd BLAST463
Transmembranei464 – 480HelicalSequence analysisAdd BLAST17

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intracellular membrane-bounded organelle Source: UniProtKB
  • mitochondrial inner membrane Source: Ensembl
  • peroxisomal membrane Source: Reactome
  • peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Sjoegren-Larsson syndrome (SLS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.
See also OMIM:270200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01751045I → F in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_01751164V → D in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547556dbSNPEnsembl.1
Natural variantiVAR_002249106L → R in SLS; severe loss of activity. 2 PublicationsCorresponds to variant rs72547558dbSNPEnsembl.1
Natural variantiVAR_017512114P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547559dbSNPEnsembl.1
Natural variantiVAR_017513121P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547560dbSNPEnsembl.1
Natural variantiVAR_017514184T → M in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547562dbSNPEnsembl.1
Natural variantiVAR_017515184T → R in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017516185G → A in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547563dbSNPEnsembl.1
Natural variantiVAR_002250214C → Y in SLS; 4% of activity. 1 PublicationCorresponds to variant rs72547564dbSNPEnsembl.1
Natural variantiVAR_002251226C → W in SLS. 1 PublicationCorresponds to variant rs72547565dbSNPEnsembl.1
Natural variantiVAR_017517228R → C in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547566dbSNPEnsembl.1
Natural variantiVAR_017518237C → Y in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547567dbSNPEnsembl.1
Natural variantiVAR_002252245D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 PublicationsCorresponds to variant rs72547568dbSNPEnsembl.1
Natural variantiVAR_017519266K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 PublicationCorresponds to variant rs72547569dbSNPEnsembl.1
Natural variantiVAR_017520279Y → N in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547570dbSNPEnsembl.1
Natural variantiVAR_002253314 – 315AP → GAKSTVGA in SLS; 8% of activity. 1 Publication2
Natural variantiVAR_002254315P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 PublicationsCorresponds to variant rs72547571dbSNPEnsembl.1
Natural variantiVAR_017521328M → I in SLS. 1 PublicationCorresponds to variant rs72547572dbSNPEnsembl.1
Natural variantiVAR_002255365S → L in SLS; severe loss of activity. 2 PublicationsCorresponds to variant rs72547573dbSNPEnsembl.1
Natural variantiVAR_017522386N → S in SLS. 1 PublicationCorresponds to variant rs72547575dbSNPEnsembl.1
Natural variantiVAR_017523406G → R in SLS. 1 Publication1
Natural variantiVAR_017524411H → Y in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_002256412G → R in SLS. 1 PublicationCorresponds to variant rs778115541dbSNPEnsembl.1
Natural variantiVAR_017525415S → N in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017526419F → S in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547576dbSNPEnsembl.1
Natural variantiVAR_017527423R → H in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs768290318dbSNPEnsembl.1
Natural variantiVAR_017528447K → E in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs67939114dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

DisGeNETi224.
MalaCardsiALDH3A2.
MIMi270200. phenotype.
OpenTargetsiENSG00000072210.
Orphaneti816. Sjogren-Larsson syndrome.
PharmGKBiPA24698.

Polymorphism and mutation databases

BioMutaiALDH3A2.
DMDMi1706379.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000564731 – 485Fatty aldehyde dehydrogenaseAdd BLAST485

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei293PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP51648.
PaxDbiP51648.
PeptideAtlasiP51648.
PRIDEiP51648.

PTM databases

iPTMnetiP51648.
PhosphoSitePlusiP51648.
SwissPalmiP51648.

Expressioni

Gene expression databases

BgeeiENSG00000072210.
CleanExiHS_ALDH3A2.
ExpressionAtlasiP51648. baseline and differential.
GenevisibleiP51648. HS.

Organism-specific databases

HPAiCAB020692.
HPA014769.

Interactioni

Protein-protein interaction databases

BioGridi106726. 69 interactors.
IntActiP51648. 34 interactors.
STRINGi9606.ENSP00000345774.

Structurei

Secondary structure

1485
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1 – 13Combined sources13
Turni14 – 17Combined sources4
Helixi20 – 36Combined sources17
Helixi38 – 49Combined sources12
Helixi53 – 59Combined sources7
Helixi61 – 78Combined sources18
Turni88 – 92Combined sources5
Beta strandi93 – 101Combined sources9
Beta strandi103 – 108Combined sources6
Beta strandi111 – 113Combined sources3
Helixi116 – 127Combined sources12
Beta strandi131 – 135Combined sources5
Helixi141 – 154Combined sources14
Turni157 – 159Combined sources3
Beta strandi160 – 162Combined sources3
Helixi167 – 173Combined sources7
Beta strandi179 – 185Combined sources7
Helixi187 – 199Combined sources13
Beta strandi204 – 207Combined sources4
Beta strandi213 – 216Combined sources4
Beta strandi218 – 220Combined sources3
Helixi222 – 234Combined sources13
Helixi235 – 238Combined sources4
Beta strandi246 – 249Combined sources4
Helixi251 – 253Combined sources3
Helixi254 – 269Combined sources16
Helixi273 – 275Combined sources3
Helixi285 – 293Combined sources9
Turni294 – 297Combined sources4
Beta strandi300 – 302Combined sources3
Turni308 – 311Combined sources4
Beta strandi316 – 318Combined sources3
Helixi326 – 328Combined sources3
Beta strandi334 – 341Combined sources8
Helixi345 – 353Combined sources9
Beta strandi359 – 364Combined sources6
Helixi368 – 377Combined sources10
Beta strandi381 – 389Combined sources9
Helixi390 – 393Combined sources4
Helixi403 – 405Combined sources3
Helixi413 – 418Combined sources6
Beta strandi420 – 427Combined sources8
Helixi433 – 438Combined sources6
Beta strandi440 – 442Combined sources3
Helixi445 – 454Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QGKX-ray2.10A/B1-460[»]
ProteinModelPortaliP51648.
SMRiP51648.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2456. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00390000002825.
HOGENOMiHOG000271515.
HOVERGENiHBG050483.
InParanoidiP51648.
KOiK00128.
OMAiIKLMLRF.
OrthoDBiEOG091G05HC.
PhylomeDBiP51648.
TreeFamiTF314264.

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.
IPR012394. Aldehyde_DH_NAD(P).
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
PIRSFiPIRSF036492. ALDH. 1 hit.
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P51648-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC
60 70 80 90 100
KSEFNVYSQE VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ
110 120 130 140 150
PLGVVLIIGA WNYPFVLTIQ PLIGAIAAGN AVIIKPSELS ENTAKILAKL
160 170 180 190 200
LPQYLDQDLY IVINGGVEET TELLKQRFDH IFYTGNTAVG KIVMEAAAKH
210 220 230 240 250
LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT CIAPDYILCE
260 270 280 290 300
ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI
310 320 330 340 350
AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN
360 370 380 390 400
FINEREKPLA LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG
410 420 430 440 450
GVGSSGMGAY HGKHSFDTFS HQRPCLLKSL KREGANKLRY PPNSQSKVDW
460 470 480
GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV KAEYY
Length:485
Mass (Da):54,848
Last modified:October 1, 1996 - v1
Checksum:i209601CB5803C7E3
GO
Isoform 2 (identifier: P51648-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     482-485: AEYY → KYQAVLRRKALLIFLVVHRLRWSSKQR

Show »
Length:508
Mass (Da):57,669
Checksum:iDC5AEB20D8B85388
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01751045I → F in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_01751164V → D in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547556dbSNPEnsembl.1
Natural variantiVAR_002249106L → R in SLS; severe loss of activity. 2 PublicationsCorresponds to variant rs72547558dbSNPEnsembl.1
Natural variantiVAR_017512114P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547559dbSNPEnsembl.1
Natural variantiVAR_017513121P → L in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547560dbSNPEnsembl.1
Natural variantiVAR_017514184T → M in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547562dbSNPEnsembl.1
Natural variantiVAR_017515184T → R in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017516185G → A in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547563dbSNPEnsembl.1
Natural variantiVAR_002250214C → Y in SLS; 4% of activity. 1 PublicationCorresponds to variant rs72547564dbSNPEnsembl.1
Natural variantiVAR_002251226C → W in SLS. 1 PublicationCorresponds to variant rs72547565dbSNPEnsembl.1
Natural variantiVAR_017517228R → C in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547566dbSNPEnsembl.1
Natural variantiVAR_017518237C → Y in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547567dbSNPEnsembl.1
Natural variantiVAR_002252245D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 PublicationsCorresponds to variant rs72547568dbSNPEnsembl.1
Natural variantiVAR_017519266K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 PublicationCorresponds to variant rs72547569dbSNPEnsembl.1
Natural variantiVAR_017520279Y → N in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547570dbSNPEnsembl.1
Natural variantiVAR_002253314 – 315AP → GAKSTVGA in SLS; 8% of activity. 1 Publication2
Natural variantiVAR_002254315P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 PublicationsCorresponds to variant rs72547571dbSNPEnsembl.1
Natural variantiVAR_017521328M → I in SLS. 1 PublicationCorresponds to variant rs72547572dbSNPEnsembl.1
Natural variantiVAR_002255365S → L in SLS; severe loss of activity. 2 PublicationsCorresponds to variant rs72547573dbSNPEnsembl.1
Natural variantiVAR_017522386N → S in SLS. 1 PublicationCorresponds to variant rs72547575dbSNPEnsembl.1
Natural variantiVAR_017523406G → R in SLS. 1 Publication1
Natural variantiVAR_017524411H → Y in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_002256412G → R in SLS. 1 PublicationCorresponds to variant rs778115541dbSNPEnsembl.1
Natural variantiVAR_017525415S → N in SLS; severe loss of activity. 1 Publication1
Natural variantiVAR_017526419F → S in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs72547576dbSNPEnsembl.1
Natural variantiVAR_017527423R → H in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs768290318dbSNPEnsembl.1
Natural variantiVAR_017528447K → E in SLS; severe loss of activity. 1 PublicationCorresponds to variant rs67939114dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001283482 – 485AEYY → KYQAVLRRKALLIFLVVHRL RWSSKQR in isoform 2. 2 Publications4

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L47162 mRNA. Translation: AAB01003.1.
U75296
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA. Translation: AAC50966.1.
U75295
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA. Translation: AAC50965.1.
U46689 mRNA. Translation: AAC51121.1.
AK292381 mRNA. Translation: BAF85070.1.
AK315096 mRNA. Translation: BAG37560.1.
CR457422 mRNA. Translation: CAG33703.1.
CH471212 Genomic DNA. Translation: EAW50898.1.
BC002430 mRNA. Translation: AAH02430.1.
CCDSiCCDS11210.1. [P51648-1]
CCDS32589.1. [P51648-2]
RefSeqiNP_000373.1. NM_000382.2. [P51648-1]
NP_001026976.1. NM_001031806.1. [P51648-2]
XP_011522034.1. XM_011523732.1. [P51648-2]
XP_011522035.1. XM_011523733.1. [P51648-2]
XP_016879845.1. XM_017024356.1. [P51648-1]
XP_016879846.1. XM_017024357.1. [P51648-1]
UniGeneiHs.499886.

Genome annotation databases

EnsembliENST00000176643; ENSP00000176643; ENSG00000072210. [P51648-1]
ENST00000339618; ENSP00000345774; ENSG00000072210. [P51648-2]
ENST00000395575; ENSP00000378942; ENSG00000072210. [P51648-1]
ENST00000579855; ENSP00000463637; ENSG00000072210. [P51648-1]
ENST00000581518; ENSP00000461916; ENSG00000072210. [P51648-2]
GeneIDi224.
KEGGihsa:224.
UCSCiuc002gwa.2. human. [P51648-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L47162 mRNA. Translation: AAB01003.1.
U75296
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA. Translation: AAC50966.1.
U75295
, U75286, U75287, U75288, U75289, U75290, U75291, U75292, U75293, U75294 Genomic DNA. Translation: AAC50965.1.
U46689 mRNA. Translation: AAC51121.1.
AK292381 mRNA. Translation: BAF85070.1.
AK315096 mRNA. Translation: BAG37560.1.
CR457422 mRNA. Translation: CAG33703.1.
CH471212 Genomic DNA. Translation: EAW50898.1.
BC002430 mRNA. Translation: AAH02430.1.
CCDSiCCDS11210.1. [P51648-1]
CCDS32589.1. [P51648-2]
RefSeqiNP_000373.1. NM_000382.2. [P51648-1]
NP_001026976.1. NM_001031806.1. [P51648-2]
XP_011522034.1. XM_011523732.1. [P51648-2]
XP_011522035.1. XM_011523733.1. [P51648-2]
XP_016879845.1. XM_017024356.1. [P51648-1]
XP_016879846.1. XM_017024357.1. [P51648-1]
UniGeneiHs.499886.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QGKX-ray2.10A/B1-460[»]
ProteinModelPortaliP51648.
SMRiP51648.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106726. 69 interactors.
IntActiP51648. 34 interactors.
STRINGi9606.ENSP00000345774.

Chemistry databases

SwissLipidsiSLP:000000198.

PTM databases

iPTMnetiP51648.
PhosphoSitePlusiP51648.
SwissPalmiP51648.

Polymorphism and mutation databases

BioMutaiALDH3A2.
DMDMi1706379.

Proteomic databases

EPDiP51648.
PaxDbiP51648.
PeptideAtlasiP51648.
PRIDEiP51648.

Protocols and materials databases

DNASUi224.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000176643; ENSP00000176643; ENSG00000072210. [P51648-1]
ENST00000339618; ENSP00000345774; ENSG00000072210. [P51648-2]
ENST00000395575; ENSP00000378942; ENSG00000072210. [P51648-1]
ENST00000579855; ENSP00000463637; ENSG00000072210. [P51648-1]
ENST00000581518; ENSP00000461916; ENSG00000072210. [P51648-2]
GeneIDi224.
KEGGihsa:224.
UCSCiuc002gwa.2. human. [P51648-1]

Organism-specific databases

CTDi224.
DisGeNETi224.
GeneCardsiALDH3A2.
HGNCiHGNC:403. ALDH3A2.
HPAiCAB020692.
HPA014769.
MalaCardsiALDH3A2.
MIMi270200. phenotype.
609523. gene.
neXtProtiNX_P51648.
OpenTargetsiENSG00000072210.
Orphaneti816. Sjogren-Larsson syndrome.
PharmGKBiPA24698.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2456. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00390000002825.
HOGENOMiHOG000271515.
HOVERGENiHBG050483.
InParanoidiP51648.
KOiK00128.
OMAiIKLMLRF.
OrthoDBiEOG091G05HC.
PhylomeDBiP51648.
TreeFamiTF314264.

Enzyme and pathway databases

BioCyciMetaCyc:HS01061-MONOMER.
ZFISH:HS01061-MONOMER.
ReactomeiR-HSA-1660661. Sphingolipid de novo biosynthesis.
R-HSA-389599. Alpha-oxidation of phytanate.
SABIO-RKP51648.

Miscellaneous databases

ChiTaRSiALDH3A2. human.
GenomeRNAii224.
PROiP51648.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072210.
CleanExiHS_ALDH3A2.
ExpressionAtlasiP51648. baseline and differential.
GenevisibleiP51648. HS.

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.
IPR012394. Aldehyde_DH_NAD(P).
[Graphical view]
PfamiPF00171. Aldedh. 1 hit.
[Graphical view]
PIRSFiPIRSF036492. ALDH. 1 hit.
SUPFAMiSSF53720. SSF53720. 1 hit.
PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAL3A2_HUMAN
AccessioniPrimary (citable) accession number: P51648
Secondary accession number(s): Q6I9T3, Q93011, Q96J37
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 169 of the entry and version 1 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.