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P51648

- AL3A2_HUMAN

UniProt

P51648 - AL3A2_HUMAN

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Protein

Fatty aldehyde dehydrogenase

Gene

ALDH3A2

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei207 – 2071By similarity
Active sitei241 – 2411By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi185 – 1906NADSequence Analysis

GO - Molecular functioni

  1. aldehyde dehydrogenase (NAD) activity Source: UniProtKB
  2. aldehyde dehydrogenase [NAD(P)+] activity Source: InterPro
  3. long-chain-alcohol oxidase activity Source: UniProtKB
  4. long-chain-aldehyde dehydrogenase activity Source: UniProtKB
  5. medium-chain-aldehyde dehydrogenase activity Source: UniProtKB

GO - Biological processi

  1. cellular aldehyde metabolic process Source: UniProtKB
  2. central nervous system development Source: UniProtKB
  3. epidermis development Source: UniProtKB
  4. oxidation-reduction process Source: GOC
  5. peripheral nervous system development Source: UniProtKB
  6. phytol metabolic process Source: UniProtKB
  7. sesquiterpenoid metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS01061-MONOMER.
SABIO-RKP51648.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:403. ALDH3A2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 463463CytoplasmicAdd
BLAST
Transmembranei464 – 48017HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
  4. intracellular membrane-bounded organelle Source: UniProtKB
  5. mitochondrial inner membrane Source: Ensembl
  6. peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451I → F in SLS; severe loss of activity. 1 Publication
VAR_017510
Natural varianti64 – 641V → D in SLS; severe loss of activity. 1 Publication
VAR_017511
Natural varianti106 – 1061L → R in SLS; severe loss of activity. 2 Publications
VAR_002249
Natural varianti114 – 1141P → L in SLS; severe loss of activity. 1 Publication
VAR_017512
Natural varianti121 – 1211P → L in SLS; severe loss of activity. 1 Publication
VAR_017513
Natural varianti184 – 1841T → M in SLS; severe loss of activity. 1 Publication
VAR_017514
Natural varianti184 – 1841T → R in SLS; severe loss of activity. 1 Publication
VAR_017515
Natural varianti185 – 1851G → A in SLS; severe loss of activity. 1 Publication
VAR_017516
Natural varianti214 – 2141C → Y in SLS; 4% of activity.
VAR_002250
Natural varianti226 – 2261C → W in SLS. 1 Publication
VAR_002251
Natural varianti228 – 2281R → C in SLS; severe loss of activity. 1 Publication
Corresponds to variant rs72547566 [ dbSNP | Ensembl ].
VAR_017517
Natural varianti237 – 2371C → Y in SLS; severe loss of activity. 1 Publication
VAR_017518
Natural varianti245 – 2451D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 Publications
VAR_002252
Natural varianti266 – 2661K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 Publication
VAR_017519
Natural varianti279 – 2791Y → N in SLS; severe loss of activity. 1 Publication
VAR_017520
Natural varianti314 – 3152AP → GAKSTVGA in SLS; 8% of activity.
VAR_002253
Natural varianti315 – 3151P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 Publications
VAR_002254
Natural varianti328 – 3281M → I in SLS. 1 Publication
VAR_017521
Natural varianti365 – 3651S → L in SLS; severe loss of activity. 2 Publications
VAR_002255
Natural varianti386 – 3861N → S in SLS. 1 Publication
VAR_017522
Natural varianti406 – 4061G → R in SLS. 1 Publication
VAR_017523
Natural varianti411 – 4111H → Y in SLS; severe loss of activity. 1 Publication
VAR_017524
Natural varianti412 – 4121G → R in SLS. 1 Publication
VAR_002256
Natural varianti415 – 4151S → N in SLS; severe loss of activity. 1 Publication
VAR_017525
Natural varianti419 – 4191F → S in SLS; severe loss of activity. 1 Publication
VAR_017526
Natural varianti423 – 4231R → H in SLS; severe loss of activity. 1 Publication
VAR_017527
Natural varianti447 – 4471K → E in SLS; severe loss of activity. 1 Publication
Corresponds to variant rs67939114 [ dbSNP | Ensembl ].
VAR_017528

Keywords - Diseasei

Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

MIMi270200. phenotype.
Orphaneti816. Sjogren-Larsson syndrome.
PharmGKBiPA24698.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 485485Fatty aldehyde dehydrogenasePRO_0000056473Add
BLAST

Proteomic databases

MaxQBiP51648.
PaxDbiP51648.
PRIDEiP51648.

PTM databases

PhosphoSiteiP51648.

Expressioni

Gene expression databases

BgeeiP51648.
CleanExiHS_ALDH3A2.
ExpressionAtlasiP51648. baseline and differential.
GenevestigatoriP51648.

Organism-specific databases

HPAiCAB020692.
HPA014769.

Interactioni

Protein-protein interaction databases

BioGridi106726. 41 interactions.
IntActiP51648. 12 interactions.
STRINGi9606.ENSP00000345774.

Structurei

Secondary structure

485
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1 – 1313Combined sources
Turni14 – 174Combined sources
Helixi20 – 3617Combined sources
Helixi38 – 4912Combined sources
Helixi53 – 597Combined sources
Helixi61 – 7818Combined sources
Turni88 – 925Combined sources
Beta strandi93 – 1019Combined sources
Beta strandi103 – 1086Combined sources
Beta strandi111 – 1133Combined sources
Helixi116 – 12712Combined sources
Beta strandi131 – 1355Combined sources
Helixi141 – 15414Combined sources
Turni157 – 1593Combined sources
Beta strandi160 – 1623Combined sources
Helixi167 – 1737Combined sources
Beta strandi179 – 1857Combined sources
Helixi187 – 19913Combined sources
Beta strandi204 – 2074Combined sources
Beta strandi213 – 2164Combined sources
Beta strandi218 – 2203Combined sources
Helixi222 – 23413Combined sources
Helixi235 – 2384Combined sources
Beta strandi246 – 2494Combined sources
Helixi251 – 2533Combined sources
Helixi254 – 26916Combined sources
Helixi273 – 2753Combined sources
Helixi285 – 2939Combined sources
Turni294 – 2974Combined sources
Beta strandi300 – 3023Combined sources
Turni308 – 3114Combined sources
Beta strandi316 – 3183Combined sources
Helixi326 – 3283Combined sources
Beta strandi334 – 3418Combined sources
Helixi345 – 3539Combined sources
Beta strandi359 – 3646Combined sources
Helixi368 – 37710Combined sources
Beta strandi381 – 3899Combined sources
Helixi390 – 3934Combined sources
Helixi403 – 4053Combined sources
Helixi413 – 4186Combined sources
Beta strandi420 – 4278Combined sources
Helixi433 – 4386Combined sources
Beta strandi440 – 4423Combined sources
Helixi445 – 45410Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4QGKX-ray2.10A/B1-460[»]
ProteinModelPortaliP51648.
SMRiP51648. Positions 1-460.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the aldehyde dehydrogenase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1012.
GeneTreeiENSGT00390000002825.
HOGENOMiHOG000271515.
HOVERGENiHBG050483.
InParanoidiP51648.
KOiK00128.
OMAiNYPYQLA.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451I → F in SLS; severe loss of activity. 1 Publication
VAR_017510
Natural varianti64 – 641V → D in SLS; severe loss of activity. 1 Publication
VAR_017511
Natural varianti106 – 1061L → R in SLS; severe loss of activity. 2 Publications
VAR_002249
Natural varianti114 – 1141P → L in SLS; severe loss of activity. 1 Publication
VAR_017512
Natural varianti121 – 1211P → L in SLS; severe loss of activity. 1 Publication
VAR_017513
Natural varianti184 – 1841T → M in SLS; severe loss of activity. 1 Publication
VAR_017514
Natural varianti184 – 1841T → R in SLS; severe loss of activity. 1 Publication
VAR_017515
Natural varianti185 – 1851G → A in SLS; severe loss of activity. 1 Publication
VAR_017516
Natural varianti214 – 2141C → Y in SLS; 4% of activity.
VAR_002250
Natural varianti226 – 2261C → W in SLS. 1 Publication
VAR_002251
Natural varianti228 – 2281R → C in SLS; severe loss of activity. 1 Publication
Corresponds to variant rs72547566 [ dbSNP | Ensembl ].
VAR_017517
Natural varianti237 – 2371C → Y in SLS; severe loss of activity. 1 Publication
VAR_017518
Natural varianti245 – 2451D → N in SLS; severe loss of activity; originally thought to be a neutral polymorphism. 2 Publications
VAR_002252
Natural varianti266 – 2661K → N in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability. 1 Publication
VAR_017519
Natural varianti279 – 2791Y → N in SLS; severe loss of activity. 1 Publication
VAR_017520
Natural varianti314 – 3152AP → GAKSTVGA in SLS; 8% of activity.
VAR_002253
Natural varianti315 – 3151P → S in SLS; common mutation in Europeans; severe loss of enzymatic activity. 3 Publications
VAR_002254
Natural varianti328 – 3281M → I in SLS. 1 Publication
VAR_017521
Natural varianti365 – 3651S → L in SLS; severe loss of activity. 2 Publications
VAR_002255
Natural varianti386 – 3861N → S in SLS. 1 Publication
VAR_017522
Natural varianti406 – 4061G → R in SLS. 1 Publication
VAR_017523
Natural varianti411 – 4111H → Y in SLS; severe loss of activity. 1 Publication
VAR_017524
Natural varianti412 – 4121G → R in SLS. 1 Publication
VAR_002256
Natural varianti415 – 4151S → N in SLS; severe loss of activity. 1 Publication
VAR_017525
Natural varianti419 – 4191F → S in SLS; severe loss of activity. 1 Publication
VAR_017526
Natural varianti423 – 4231R → H in SLS; severe loss of activity. 1 Publication
VAR_017527
Natural varianti447 – 4471K → E in SLS; severe loss of activity. 1 Publication
Corresponds to variant rs67939114 [ dbSNP | Ensembl ].
VAR_017528

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei482 – 4854AEYY → KYQAVLRRKALLIFLVVHRL RWSSKQR in isoform 2. 2 PublicationsVSP_001283

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]
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.1. human. [P51648-2]
uc002gwb.1. human. [P51648-1]

Polymorphism databases

DMDMi1706379.

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 .
CCDSi CCDS11210.1. [P51648-1 ]
CCDS32589.1. [P51648-2 ]
RefSeqi NP_000373.1. NM_000382.2. [P51648-1 ]
NP_001026976.1. NM_001031806.1. [P51648-2 ]
UniGenei Hs.499886.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4QGK X-ray 2.10 A/B 1-460 [» ]
ProteinModelPortali P51648.
SMRi P51648. Positions 1-460.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106726. 41 interactions.
IntActi P51648. 12 interactions.
STRINGi 9606.ENSP00000345774.

PTM databases

PhosphoSitei P51648.

Polymorphism databases

DMDMi 1706379.

Proteomic databases

MaxQBi P51648.
PaxDbi P51648.
PRIDEi P51648.

Protocols and materials databases

DNASUi 224.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000176643 ; ENSP00000176643 ; ENSG00000072210 . [P51648-1 ]
ENST00000339618 ; ENSP00000345774 ; ENSG00000072210 . [P51648-2 ]
ENST00000395575 ; ENSP00000378942 ; ENSG00000072210 . [P51648-1 ]
ENST00000579855 ; ENSP00000463637 ; ENSG00000072210 . [P51648-1 ]
ENST00000581518 ; ENSP00000461916 ; ENSG00000072210 . [P51648-2 ]
GeneIDi 224.
KEGGi hsa:224.
UCSCi uc002gwa.1. human. [P51648-2 ]
uc002gwb.1. human. [P51648-1 ]

Organism-specific databases

CTDi 224.
GeneCardsi GC17P019551.
HGNCi HGNC:403. ALDH3A2.
HPAi CAB020692.
HPA014769.
MIMi 270200. phenotype.
609523. gene.
neXtProti NX_P51648.
Orphaneti 816. Sjogren-Larsson syndrome.
PharmGKBi PA24698.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1012.
GeneTreei ENSGT00390000002825.
HOGENOMi HOG000271515.
HOVERGENi HBG050483.
InParanoidi P51648.
KOi K00128.
OMAi NYPYQLA.
PhylomeDBi P51648.
TreeFami TF314264.

Enzyme and pathway databases

BioCyci MetaCyc:HS01061-MONOMER.
SABIO-RK P51648.

Miscellaneous databases

ChiTaRSi ALDH3A2. human.
GenomeRNAii 224.
NextBioi 910.
PROi P51648.
SOURCEi Search...

Gene expression databases

Bgeei P51648.
CleanExi HS_ALDH3A2.
ExpressionAtlasi P51648. baseline and differential.
Genevestigatori P51648.

Family and domain databases

Gene3Di 3.40.309.10. 1 hit.
3.40.605.10. 1 hit.
InterProi IPR016161. 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 ]
Pfami PF00171. Aldedh. 1 hit.
[Graphical view ]
PIRSFi PIRSF036492. ALDH. 1 hit.
SUPFAMi SSF53720. SSF53720. 1 hit.
PROSITEi PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene."
    de Laurenzi V., Rogers G.R., Hamrock D.J., Marekov L.N., Steinert P.M., Compton J.G., Markova N., Rizzo W.B.
    Nat. Genet. 12:52-57(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, VARIANTS SLS.
  2. "Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)."
    Rogers G.R., Markova N.G., De Laurenzi V., Rizzo W.B., Compton J.G.
    Genomics 39:127-135(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
  3. "Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression."
    Chang C., Yoshida A.
    Genomics 40:80-85(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  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] (ISOFORM 1).
    Tissue: Testis and Trachea.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 2).
    Tissue: Skin.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway."
    Nakahara K., Ohkuni A., Kitamura T., Abe K., Naganuma T., Ohno Y., Zoeller R.A., Kihara A.
    Mol. Cell 46:461-471(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  10. "A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden."
    Sillen A., Jagell S., Wadelius C.
    Hum. Genet. 100:201-203(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SLS SER-315.
  11. "Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjoegren-Larsson syndrome."
    Sillen A., Anton-Lamprecht I., Braun-Quentin C., Kraus C.S., Sayli B.S., Ayuso C., Jagell S., Kuester W., Wadelius C.
    Hum. Mutat. 12:377-384(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SLS ARG-106; TRP-226; ASN-245; SER-315; LEU-365 AND ARG-412.
  12. "The molecular basis of Sjoegren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene."
    Rizzo W.B., Carney G., Lin Z.
    Am. J. Hum. Genet. 65:1547-1560(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SLS PHE-45; ASP-64; ARG-106; LEU-114; LEU-121; ARG-184; MET-184; ALA-185; CYS-228; TYR-237; ASN-245; ASN-266; ASN-279; SER-315; ILE-328; LEU-365; ARG-406; TYR-411; ASN-415; SER-419; HIS-423 AND GLU-447.
  13. "A novel point mutation of the FALDH gene in a Japanese family with Sjoegren-Larsson syndrome."
    Aoki N., Suzuki H., Ito K., Ito M.
    J. Invest. Dermatol. 114:1065-1066(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SLS SER-386.

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 26, 2014
This is version 148 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

External Data

Dasty 3