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P51648

- AL3A2_HUMAN

UniProt

P51648 - AL3A2_HUMAN

Protein

Fatty aldehyde dehydrogenase

Gene

ALDH3A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 146 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    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

    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

    ArrayExpressiP51648.
    BgeeiP51648.
    CleanExiHS_ALDH3A2.
    GenevestigatoriP51648.

    Organism-specific databases

    HPAiCAB020692.
    HPA014769.

    Interactioni

    Protein-protein interaction databases

    BioGridi106726. 14 interactions.
    IntActiP51648. 12 interactions.
    STRINGi9606.ENSP00000345774.

    Structurei

    3D structure databases

    ProteinModelPortaliP51648.
    SMRiP51648. Positions 5-443.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 463463CytoplasmicAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei464 – 48017HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1012.
    HOGENOMiHOG000271515.
    HOVERGENiHBG050483.
    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

    MELEVRRVRQ AFLSGRSRPL RFRLQQLEAL RRMVQEREKD ILTAIAADLC    50
    KSEFNVYSQE VITVLGEIDF MLENLPEWVT AKPVKKNVLT MLDEAYIQPQ 100
    PLGVVLIIGA WNYPFVLTIQ PLIGAIAAGN AVIIKPSELS ENTAKILAKL 150
    LPQYLDQDLY IVINGGVEET TELLKQRFDH IFYTGNTAVG KIVMEAAAKH 200
    LTPVTLELGG KSPCYIDKDC DLDIVCRRIT WGKYMNCGQT CIAPDYILCE 250
    ASLQNQIVWK IKETVKEFYG ENIKESPDYE RIINLRHFKR ILSLLEGQKI 300
    AFGGETDEAT RYIAPTVLTD VDPKTKVMQE EIFGPILPIV PVKNVDEAIN 350
    FINEREKPLA LYVFSHNHKL IKRMIDETSS GGVTGNDVIM HFTLNSFPFG 400
    GVGSSGMGAY HGKHSFDTFS HQRPCLLKSL KREGANKLRY PPNSQSKVDW 450
    GKFFLLKRFN KEKLGLLLLT FLGIVAAVLV KAEYY 485
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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

    ProteinModelPortali P51648.
    SMRi P51648. Positions 5-443.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106726. 14 interactions.
    IntActi P51648. 12 interactions.
    STRINGi 9606.ENSP00000345774.

    Chemistry

    DrugBanki DB00157. NADH.

    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.
    HOGENOMi HOG000271515.
    HOVERGENi HBG050483.
    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

    ArrayExpressi P51648.
    Bgeei P51648.
    CleanExi HS_ALDH3A2.
    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

    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: October 1, 2014
    This is version 146 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3