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Q9UDR5

- AASS_HUMAN

UniProt

Q9UDR5 - AASS_HUMAN

Protein

Alpha-aminoadipic semialdehyde synthase, mitochondrial

Gene

AASS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively.

    Catalytic activityi

    N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP+ + H2O = L-lysine + 2-oxoglutarate + NADPH.
    N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD+ + H2O = L-glutamate + (S)-2-amino-6-oxohexanoate + NADH.

    Pathwayi

    GO - Molecular functioni

    1. saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity Source: UniProtKB
    2. saccharopine dehydrogenase (NADP+, L-lysine-forming) activity Source: Reactome

    GO - Biological processi

    1. cellular nitrogen compound metabolic process Source: Reactome
    2. L-lysine catabolic process to acetyl-CoA via saccharopine Source: UniProtKB-UniPathway
    3. lysine catabolic process Source: UniProtKB
    4. protein tetramerization Source: UniProtKB
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NAD, NADP

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00244-MONOMER.
    ReactomeiREACT_1298. Lysine catabolism.
    SABIO-RKQ9UDR5.
    UniPathwayiUPA00868; UER00835.
    UPA00868; UER00836.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-aminoadipic semialdehyde synthase, mitochondrial
    Alternative name(s):
    LKR/SDH
    Including the following 2 domains:
    Lysine ketoglutarate reductase (EC:1.5.1.8)
    Short name:
    LKR
    Short name:
    LOR
    Saccharopine dehydrogenase (EC:1.5.1.9)
    Short name:
    SDH
    Gene namesi
    Name:AASS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:17366. AASS.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. mitochondrial matrix Source: Reactome
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Hyperlysinemia, 1 (HYPLYS1) [MIM:238700]: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi238700. phenotype.
    Orphaneti2203. Hyperlysinemia.
    3124. Saccharopinuria.
    PharmGKBiPA24369.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3232MitochondrionBy similarityAdd
    BLAST
    Chaini33 – 926894Alpha-aminoadipic semialdehyde synthase, mitochondrialPRO_0000001052Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei48 – 481N6-acetyllysineBy similarity
    Modified residuei56 – 561N6-acetyllysineBy similarity
    Modified residuei93 – 931N6-acetyllysine; alternateBy similarity
    Modified residuei93 – 931N6-succinyllysine; alternateBy similarity
    Modified residuei128 – 1281N6-acetyllysineBy similarity
    Modified residuei138 – 1381N6-acetyllysine; alternateBy similarity
    Modified residuei138 – 1381N6-succinyllysine; alternateBy similarity
    Modified residuei274 – 2741N6-succinyllysineBy similarity
    Modified residuei286 – 2861N6-acetyllysine; alternateBy similarity
    Modified residuei286 – 2861N6-succinyllysine; alternateBy similarity
    Modified residuei333 – 3331N6-succinyllysineBy similarity
    Modified residuei458 – 4581N6-acetyllysine; alternateBy similarity
    Modified residuei458 – 4581N6-succinyllysine; alternateBy similarity
    Modified residuei523 – 5231N6-acetyllysine; alternateBy similarity
    Modified residuei523 – 5231N6-succinyllysine; alternateBy similarity
    Modified residuei535 – 5351N6-acetyllysine; alternateBy similarity
    Modified residuei535 – 5351N6-succinyllysine; alternateBy similarity
    Modified residuei584 – 5841N6-acetyllysine; alternateBy similarity
    Modified residuei584 – 5841N6-succinyllysine; alternateBy similarity
    Modified residuei707 – 7071N6-acetyllysineBy similarity
    Modified residuei732 – 7321N6-succinyllysineBy similarity
    Modified residuei739 – 7391N6-acetyllysineBy similarity
    Modified residuei761 – 7611N6-acetyllysine; alternateBy similarity
    Modified residuei761 – 7611N6-succinyllysine; alternateBy similarity
    Modified residuei780 – 7801N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9UDR5.
    PaxDbiQ9UDR5.
    PeptideAtlasiQ9UDR5.
    PRIDEiQ9UDR5.

    PTM databases

    PhosphoSiteiQ9UDR5.

    Expressioni

    Tissue specificityi

    Expressed in all 16 tissues examined with highest expression in the liver.

    Inductioni

    Induced by starvation.By similarity

    Gene expression databases

    ArrayExpressiQ9UDR5.
    BgeeiQ9UDR5.
    CleanExiHS_AASS.
    GenevestigatoriQ9UDR5.

    Organism-specific databases

    HPAiHPA020637.
    HPA020728.
    HPA020734.

    Interactioni

    Subunit structurei

    Homodimer.By similarity

    Protein-protein interaction databases

    BioGridi115459. 6 interactions.
    IntActiQ9UDR5. 2 interactions.
    MINTiMINT-2820994.
    STRINGi9606.ENSP00000377040.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UDR5.
    SMRiQ9UDR5. Positions 30-424, 481-924.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni33 – 455423Lysine-ketoglutarate reductaseAdd
    BLAST
    Regioni477 – 926450Saccharopine dehydrogenaseAdd
    BLAST

    Sequence similaritiesi

    In the N-terminal section; belongs to the AlaDH/PNT family.Curated
    In the C-terminal section; belongs to the saccharopine dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1748.
    HOGENOMiHOG000252920.
    HOVERGENiHBG048688.
    InParanoidiQ9UDR5.
    KOiK14157.
    OMAiILKQEIR.
    OrthoDBiEOG7F7W7Z.
    PhylomeDBiQ9UDR5.
    TreeFamiTF105728.

    Family and domain databases

    Gene3Di3.40.50.720. 1 hit.
    InterProiIPR007886. AlaDH/PNT_N.
    IPR007698. AlaDH/PNT_NAD(H)-bd.
    IPR016040. NAD(P)-bd_dom.
    IPR005097. Saccharopine_DH/HSpermid_syn.
    [Graphical view]
    PfamiPF01262. AlaDh_PNT_C. 1 hit.
    PF05222. AlaDh_PNT_N. 1 hit.
    PF03435. Saccharop_dh. 1 hit.
    [Graphical view]
    SMARTiSM01002. AlaDh_PNT_C. 1 hit.
    SM01003. AlaDh_PNT_N. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9UDR5-1 [UniParc]FASTAAdd to Basket

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    MLQVHRTGLG RLGVSLSKGL HHKAVLAVRR EDVNAWERRA PLAPKHIKGI    50
    TNLGYKVLIQ PSNRRAIHDK DYVKAGGILQ EDISEACLIL GVKRPPEEKL 100
    MSRKTYAFFS HTIKAQEANM GLLDEILKQE IRLIDYEKMV DHRGVRVVAF 150
    GQWAGVAGMI NILHGMGLRL LALGHHTPFM HIGMAHNYRN SSQAVQAVRD 200
    AGYEISLGLM PKSIGPLTFV FTGTGNVSKG AQAIFNELPC EYVEPHELKE 250
    VSQTGDLRKV YGTVLSRHHH LVRKTDAVYD PAEYDKHPER YISRFNTDIA 300
    PYTTCLINGI YWEQNTPRLL TRQDAQSLLA PGKFSPAGVE GCPALPHKLV 350
    AICDISADTG GSIEFMTECT TIEHPFCMYD ADQHIIHDSV EGSGILMCSI 400
    DNLPAQLPIE ATECFGDMLY PYVEEMILSD ATQPLESQNF SPVVRDAVIT 450
    SNGTLPDKYK YIQTLRESRE RAQSLSMGTR RKVLVLGSGY ISEPVLEYLS 500
    RDGNIEITVG SDMKNQIEQL GKKYNINPVS MDICKQEEKL GFLVAKQDLV 550
    ISLLPYVLHP LVAKACITNK VNMVTASYIT PALKELEKSV EDAGITIIGE 600
    LGLDPGLDHM LAMETIDKAK EVGATIESYI SYCGGLPAPE HSNNPLRYKF 650
    SWSPVGVLMN VMQSATYLLD GKVVNVAGGI SFLDAVTSMD FFPGLNLEGY 700
    PNRDSTKYAE IYGISSAHTL LRGTLRYKGY MKALNGFVKL GLINREALPA 750
    FRPEANPLTW KQLLCDLVGI SPSSEHDVLK EAVLKKLGGD NTQLEAAEWL 800
    GLLGDEQVPQ AESILDALSK HLVMKLSYGP EEKDMIVMRD SFGIRHPSGH 850
    LEHKTIDLVA YGDINGFSAM AKTVGLPTAM AAKMLLDGEI GAKGLMGPFS 900
    KEIYGPILER IKAEGIIYTT QSTIKP 926
    Length:926
    Mass (Da):102,132
    Last modified:May 1, 2000 - v1
    Checksum:iCB4194014351A18D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti589 – 5891S → C in CAA07619. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF229180 mRNA. Translation: AAF44328.1.
    AJ007714 mRNA. Translation: CAA07619.2.
    AC006020 Genomic DNA. Translation: AAF03526.1.
    CCDSiCCDS5783.1.
    RefSeqiNP_005754.2. NM_005763.3.
    UniGeneiHs.156738.

    Genome annotation databases

    EnsembliENST00000393376; ENSP00000377040; ENSG00000008311.
    ENST00000417368; ENSP00000403768; ENSG00000008311.
    GeneIDi10157.
    KEGGihsa:10157.
    UCSCiuc003vka.3. human.

    Polymorphism databases

    DMDMi46396032.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF229180 mRNA. Translation: AAF44328.1 .
    AJ007714 mRNA. Translation: CAA07619.2 .
    AC006020 Genomic DNA. Translation: AAF03526.1 .
    CCDSi CCDS5783.1.
    RefSeqi NP_005754.2. NM_005763.3.
    UniGenei Hs.156738.

    3D structure databases

    ProteinModelPortali Q9UDR5.
    SMRi Q9UDR5. Positions 30-424, 481-924.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115459. 6 interactions.
    IntActi Q9UDR5. 2 interactions.
    MINTi MINT-2820994.
    STRINGi 9606.ENSP00000377040.

    PTM databases

    PhosphoSitei Q9UDR5.

    Polymorphism databases

    DMDMi 46396032.

    Proteomic databases

    MaxQBi Q9UDR5.
    PaxDbi Q9UDR5.
    PeptideAtlasi Q9UDR5.
    PRIDEi Q9UDR5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393376 ; ENSP00000377040 ; ENSG00000008311 .
    ENST00000417368 ; ENSP00000403768 ; ENSG00000008311 .
    GeneIDi 10157.
    KEGGi hsa:10157.
    UCSCi uc003vka.3. human.

    Organism-specific databases

    CTDi 10157.
    GeneCardsi GC07M121713.
    HGNCi HGNC:17366. AASS.
    HPAi HPA020637.
    HPA020728.
    HPA020734.
    MIMi 238700. phenotype.
    605113. gene.
    neXtProti NX_Q9UDR5.
    Orphaneti 2203. Hyperlysinemia.
    3124. Saccharopinuria.
    PharmGKBi PA24369.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1748.
    HOGENOMi HOG000252920.
    HOVERGENi HBG048688.
    InParanoidi Q9UDR5.
    KOi K14157.
    OMAi ILKQEIR.
    OrthoDBi EOG7F7W7Z.
    PhylomeDBi Q9UDR5.
    TreeFami TF105728.

    Enzyme and pathway databases

    UniPathwayi UPA00868 ; UER00835 .
    UPA00868 ; UER00836 .
    BioCyci MetaCyc:HS00244-MONOMER.
    Reactomei REACT_1298. Lysine catabolism.
    SABIO-RK Q9UDR5.

    Miscellaneous databases

    ChiTaRSi AASS. human.
    GeneWikii AASS.
    GenomeRNAii 10157.
    NextBioi 38452.
    PROi Q9UDR5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UDR5.
    Bgeei Q9UDR5.
    CleanExi HS_AASS.
    Genevestigatori Q9UDR5.

    Family and domain databases

    Gene3Di 3.40.50.720. 1 hit.
    InterProi IPR007886. AlaDH/PNT_N.
    IPR007698. AlaDH/PNT_NAD(H)-bd.
    IPR016040. NAD(P)-bd_dom.
    IPR005097. Saccharopine_DH/HSpermid_syn.
    [Graphical view ]
    Pfami PF01262. AlaDh_PNT_C. 1 hit.
    PF05222. AlaDh_PNT_N. 1 hit.
    PF03435. Saccharop_dh. 1 hit.
    [Graphical view ]
    SMARTi SM01002. AlaDh_PNT_C. 1 hit.
    SM01003. AlaDh_PNT_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia."
      Sacksteder K.A., Biery B.J., Morrell J.C., Goodman B.K., Geisbrecht B.V., Cox R.P., Gould S.J., Geraghty M.T.
      Am. J. Hum. Genet. 66:1736-1743(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, INVOLVEMENT IN HYPLYS1.
    2. "Cloning and expression analysis of the LKR/SDH gene in human tissues."
      Papes F., Kemper E.L., Cord-Neto G., Langone F., Arruda P.
      Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Liver.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAASS_HUMAN
    AccessioniPrimary (citable) accession number: Q9UDR5
    Secondary accession number(s): O95462
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 118 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, Multifunctional enzyme, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3