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UniProtKB/Swiss-Prot entry Q9UDR5


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AASS_HUMAN
Primary accession number Q9UDR5
Secondary accession number O95462
Integrated into Swiss-Prot on April 13, 2004
Sequence was last modified on May 1, 2000 (Sequence version 1)
Annotations were last modified on    July 22, 2008 (Entry version 54)
Name and origin of the protein
Protein name Alpha-aminoadipic semialdehyde synthase, mitochondrial [Precursor]
Synonym LKR/SDH
Includes Lysine ketoglutarate reductase
     (LKR)
     (LOR)
     (EC 1.5.1.8)
Saccharopine dehydrogenase
     (SDH)
     (EC 1.5.1.9)
Gene name
Name: AASS
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND CHARACTERIZATION.
DOI=10.1086/302919; PubMed=10775527 [NCBI, ExPASy, EBI, Israel, Japan]
Sacksteder K.A., Biery B.J., Morrell J.C., Goodman B.K., Geisbrecht B.V., Cox R.P., Gould S.J., Geraghty M.T.;
"Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.";
Am. J. Hum. Genet. 66:1736-1743(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
Papes F., Kemper E.L., Cord-Neto G., Langone F., Arruda P.;
"Cloning and expression analysis of the LKR/SDH gene in human tissues.";
Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF229180; AAF44328.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ007714; CAA07619.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC006020; AAF03526.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_005754.2; -.
UniGene Hs.156738
3D structure databases
ModBase Q9UDR5.
Protein-protein interaction databases
IntAct Q9UDR5; -.
Enzyme and pathway databases
BioCyc MetaCyc:MON-12249; -.
Reactome REACT_13; Metabolism of amino acids.
Organism-specific databases
HGNC HGNC:17366; AASS.
GenAtlas AASS.
MIM 238700; phenotype. [NCBI / EBI]
605113; gene. [NCBI / EBI]
Orphanet 2203; Hyperlysinemia.
PharmGKB PA24369; -.
GeneCards Q9UDR5.
Gene expression databases
ArrayExpress Q9UDR5; -.
CleanEx HS_AASS; -.
GermOnline ENSG00000008311; Homo sapiens.
Ontologies
GO
GO:0005739; Cellular component: mitochondrion (traceable author statement from UniProtKB).
GO:0047131; Molecular function: saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (non-traceable author statement from UniProtKB).
GO:0006554; Biological process: lysine catabolic process (non-traceable author statement from UniProtKB).
GO:0051262; Biological process: protein tetramerization (traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR007698; Ala_DHase/PNT_C.
IPR008142; Ala_DHase/PNT_CS1.
IPR008143; Ala_DHase/PNT_CS2.
IPR007886; Ala_DHase/PNT_N.
IPR005097; Saccharopine_DHase.
Graphical view of domain structure.
Pfam PF01262; AlaDh_PNT_C; 1.
PF05222; AlaDh_PNT_N; 1.
PF03435; Saccharop_dh; 1.
Pfam graphical view of domain structure.
PROSITE PS00836; ALADH_PNT_1; FALSE_NEG.
PS00837; ALADH_PNT_2; FALSE_NEG.
BLOCKS Q9UDR5.
Proteomic databases
PeptideAtlas Q9UDR5; -.
Genome annotation databases
Ensembl ENSG00000008311; Homo sapiens. [Contig view]
GeneID 10157; -.
KEGG hsa:10157; -.
Phylogenomic databases
HOGENOM Q9UDR5; -.
HOVERGEN Q9UDR5; -.
Other
DrugBank DB00142; L-Glutamic Acid.
DB00157; NADH.
SOURCE AASS; Homo sapiens.
ProtoNet Q9UDR5.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Mitochondrion; Multifunctional enzyme; NAD; NADP; Oxidoreductase; Transit peptide.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
TRANSIT   1    32  32     Mitochondrion (By similarity). 
CHAIN   33   926  894     Alpha-aminoadipic semialdehyde synthase, mitochondrial. PRO_0000001052
REGION   33   455  423     Lysine-ketoglutarate reductase. 
REGION   477   926  450     Saccharopine dehydrogenase. 
CONFLICT   589   589        S -> C (in Ref. 2; CAA07619). 
Sequence information
Length: 926 AA [This is the length of the unprocessed precursor] Molecular weight: 102132 Da [This is the MW of the unprocessed precursor] CRC64: CB4194014351A18D [This is a checksum on the sequence]
        10         20         30         40         50         60 
MLQVHRTGLG RLGVSLSKGL HHKAVLAVRR EDVNAWERRA PLAPKHIKGI TNLGYKVLIQ 

        70         80         90        100        110        120 
PSNRRAIHDK DYVKAGGILQ EDISEACLIL GVKRPPEEKL MSRKTYAFFS HTIKAQEANM 

       130        140        150        160        170        180 
GLLDEILKQE IRLIDYEKMV DHRGVRVVAF GQWAGVAGMI NILHGMGLRL LALGHHTPFM 

       190        200        210        220        230        240 
HIGMAHNYRN SSQAVQAVRD AGYEISLGLM PKSIGPLTFV FTGTGNVSKG AQAIFNELPC 

       250        260        270        280        290        300 
EYVEPHELKE VSQTGDLRKV YGTVLSRHHH LVRKTDAVYD PAEYDKHPER YISRFNTDIA 

       310        320        330        340        350        360 
PYTTCLINGI YWEQNTPRLL TRQDAQSLLA PGKFSPAGVE GCPALPHKLV AICDISADTG 

       370        380        390        400        410        420 
GSIEFMTECT TIEHPFCMYD ADQHIIHDSV EGSGILMCSI DNLPAQLPIE ATECFGDMLY 

       430        440        450        460        470        480 
PYVEEMILSD ATQPLESQNF SPVVRDAVIT SNGTLPDKYK YIQTLRESRE RAQSLSMGTR 

       490        500        510        520        530        540 
RKVLVLGSGY ISEPVLEYLS RDGNIEITVG SDMKNQIEQL GKKYNINPVS MDICKQEEKL 

       550        560        570        580        590        600 
GFLVAKQDLV ISLLPYVLHP LVAKACITNK VNMVTASYIT PALKELEKSV EDAGITIIGE 

       610        620        630        640        650        660 
LGLDPGLDHM LAMETIDKAK EVGATIESYI SYCGGLPAPE HSNNPLRYKF SWSPVGVLMN 

       670        680        690        700        710        720 
VMQSATYLLD GKVVNVAGGI SFLDAVTSMD FFPGLNLEGY PNRDSTKYAE IYGISSAHTL 

       730        740        750        760        770        780 
LRGTLRYKGY MKALNGFVKL GLINREALPA FRPEANPLTW KQLLCDLVGI SPSSEHDVLK 

       790        800        810        820        830        840 
EAVLKKLGGD NTQLEAAEWL GLLGDEQVPQ AESILDALSK HLVMKLSYGP EEKDMIVMRD 

       850        860        870        880        890        900 
SFGIRHPSGH LEHKTIDLVA YGDINGFSAM AKTVGLPTAM AAKMLLDGEI GAKGLMGPFS 

       910        920 
KEIYGPILER IKAEGIIYTT QSTIKP 

Q9UDR5 in FASTA format

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