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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AASS Gene

protein-coding GIFtS: 61
GCID: GC07M121713

aminoadipate-semialdehyde synthase

Explore 15 diseases affiliated with
AASS via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aminoadipate-Semialdehyde Synthase¹ ²		Alpha-Aminoadipic Semialdehyde Synthase, Mitochondrial²
LKRSDH¹ ²		Aminoadipic Semialdehyde Synthase²
LORSDH¹ ²		Lysine-2-Oxoglutarate Reductase²
LKR/SDH² ³		Lysine-Ketoglutarate Reductase /Saccharopine Dehydrogenase²
Alpha-Aminoadipate Semialdehyde Synthase²

External Ids:	HGNC: 17366¹	Entrez Gene: 10157²	Ensembl: ENSG00000008311⁷	OMIM: 605113⁵	UniProtKB: Q9UDR5³

Export aliases for AASS gene to outside databases

Previous GC identifers: GC07M120194 GC07M121256 GC07M121270 GC07M121310 GC07M121503 GC07M116077

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AASS:

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway.

The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine

dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde.

Mutations in this gene are associated with familial hyperlysinemia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

Function: 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

Gene Wiki entry for AASS

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AASS gene promoter:
NF-YA Cdc5 NF-YB CBF-A CBF-B FOXJ2 (long isoform) CP1A FOXJ2 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AASS promoter sequence

Search SABiosciences Chromatin IP Primers for AASS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AASS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.3 Ensembl cytogenetic band: 7q31.32 HGNC cytogenetic band: 7q31.3

AASS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AASS gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M121713: view genomic region (about GC identifiers)

Start:	121,713,598 bp from pter	End:	121,784,344 bp from pter
Size:	70,747 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 121,108,272-121,179,018

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5 (See protein sequence)

Recommended Name: Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor

Size: 926 amino acids; 102132 Da

Subunit: Homodimer (By similarity)

Subcellular location: Mitochondrion (By similarity)

Secondary accessions: O95462

Explore the universe of human proteins at neXtProt for AASS: NX_Q9UDR5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UDR5

AASS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005754.2

ENSEMBL proteins:

ENSP00000377040 ENSP00000403768 ENSP00000414001 ENSP00000351834 ENSP00000394180

Reactome Protein details: Q9UDR5
Human Recombinant Protein Products for AASS:

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	Uscn Proteins for AASS

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	TAS	10567240
GO:0005759	mitochondrial matrix	TAS	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

AASS for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AASS for domains About GeneDecksing

4 InterPro domains/families:

IPR007698 AlaDH/PNT_NAD(H)-bd

IPR005097 Saccharopine_DH/HSpermid_syn

IPR007886 AlaDH/PNT_N

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q9UDR5

ProtoNet protein and cluster: Q9UDR5

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

Similarity: In the N-terminal section; belongs to the AlaDH/PNT family

Similarity: In the C-terminal section; belongs to the saccharopine dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AASS_HUMAN, Q9UDR5

Function: 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 activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NADP(+) + H(2)O = L-lysine + 2-oxoglutarate + NADPH

Catalytic activity: N(6)-(L-1,3-dicarboxypropyl)-L-lysine + NAD(+) + H(2)O = L-glutamate + (S)-2-amino-6-oxohexanoate +

NADH

Induction: Induced by starvation (By similarity)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0016491	oxidoreductase activity	--	--
GO:0047130	saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	EXP	--
GO:0047131	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	NAS	10775527

AASS for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AASS

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		hsa-miR-140-5p hsa-miR-579 hsa-miR-495 hsa-let-7d hsa-miR-376b hsa-let-7c hsa-miR-944 hsa-miR-374a*

		SwitchGear 3'UTR luciferase reporter plasmid: AASS 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AASS

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

lysine degradation II

lysine degradation II

1.00

Lysine biosynthesis

0.50

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Lysine catabolism

Lysine catabolism

1.00

Lysine degradation

Lysine degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for AASS

lysine degradation II

3 Reactome Pathways for AASS

	Lysine catabolism
	Metabolism
	Metabolism of amino acids and derivatives

3 Kegg Pathways (Kegg details for AASS):

	Lysine biosynthesis
	Lysine degradation
	Metabolic pathways

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 1/6

Pathway: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 2/6

AASS for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AASS

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/240 Interacting proteins for AASS (Q9UDR5^{2, 3} ENSP00000377040⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 240)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
MYC	P01106³, ENSP00000367207⁴	I2D: score=3 STRING: ENSP00000367207
TERF2	Q15554³, ENSP00000254942⁴	I2D: score=1 STRING: ENSP00000254942
CLN3	Q13286³	I2D: score=1
PXN	P49023³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006554	lysine catabolic process	TAS	--
GO:0019477	L-lysine catabolic process	--	--
GO:0033512	L-lysine catabolic process to acetyl-CoA via saccharopine	IEA	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

AASS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AASS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AASS

10/11 HMDB Compounds for AASS (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
Allysine	2-Amino-5-formylvalerate (see all 20)	1962-83-0	--
Famotidine	Amfamox (see all 83)	76824-35-6	--
L-Glutamic acid	(2S)-2-Aminopentanedioate (see all 49)	56-86-0	--
L-Lysine	(+)-S-Lysine (see all 25)	56-87-1	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Oxoglutaric acid	2-Ketoglutarate (see all 9)	328-50-7	--
Saccharopine	(S)-N-(5-amino-5-carboxypentyl)-L-Glutamic acid (see all 11)	997-68-2	--

4 DrugBank Compounds for AASS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamic Acid	(2S)-2-Aminopentanedioic acid (see all 15)	56-86-0	target	--	687635 9249048 17139284 17016423 12226216
N-(5-Amino-5-Carboxypentyl)Glutamic Acid	--	--	target	--	17139284 17016423 10592235
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17542618 17223709 17002315
Nadph Dihydro-Nicotinamide-Adenine-Dinucleotidephosphate	--	--	target	--	17139284 17016423 10592235

10/16 Novoseek chemical compound relationships for AASS gene (see all 16) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
saccharopine	96.9	46	9286108 (6), 11080311 (2), 10775527 (2), 17854830 (2) (see all 15)
alpha-aminoadipic semialdehyde	86	9	10775527 (3), 9249048 (1)
mannitol	67.4	17	12615520 (2), 8885129 (2), 9852094 (1), 9513410 (1) (see all 13)
glyceraldehyde	67.3	3	9513410 (1), 2134294 (1), 12355795 (1)
lysine	62.4	26	11080311 (2), 10775527 (2), 9286108 (2), 18839315 (1) (see all 12)
aldose	49.6	2	12615520 (1), 1748066 (1)
alpha-ketoglutarate	46.4	1	9249048 (1)
nadh	44.1	8	12962626 (2), 8736155 (1), 11371030 (1), 8885129 (1)
nad+	36.6	6	11080311 (1), 12962626 (1)
fructose	34.8	4	12962626 (1), 8885129 (1)

Search CenterWatch for drugs/clinical trials and news about AASS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AASS gene:

NM_005763.3

Unigene Cluster for AASS:

Aminoadipate-semialdehyde synthase

Hs.156738 [show with all ESTs]

Unigene Representative Sequence: NM_005763

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000460376 ENST00000393376(uc011knu.2 uc003vka.3 uc011knv.2)

ENST00000473553(uc011knw.2) ENST00000417368(uc003vkb.3) ENST00000431170

ENST00000358954 ENST00000426162

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		SwitchGear 3'UTR luciferase reporter plasmid: AASS 3' UTR sequence

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Additional cDNA sequence:

AF229180.1 AK023446.1 AK225898.1 AK294326.1 BC144246.1 BC144247.1

10 DOTS entries:

DT.97818478 DT.447975 DT.100784090 DT.95261180 DT.92036833 DT.121049109 DT.40129587 DT.91701477

DT.121112877 DT.40274506

24/166 AceView cDNA sequences (see all 166):

AA886761 AA729905 BE674228 BE466144 AI634665 AA976207 AI373472 BF593537

BE550610 AI917478 AF229180 AW467126 AA485511 AW827094 BF439626 AI651132

AI791579 AI621212 AW512404 NM_005763 AJ007714 BG569401 W20467 W32719

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AASS (see all 7) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·	16b	^	17	^	18	^	19a	·
SP1:					-																						-						-										-
SP2:																											-						-										-
SP3:
SP4:
SP5:

ExUns:	19b	^	20a	·	20b	^	21a	·	21b	^	22	^	23a	·	23b	^	24	^	25	^	26	^	27a	·	27b
SP1:							-		-								-
SP2:							-		-								-
SP3:
SP4:													-
SP5:

ECgene alternative splicing isoforms for AASS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AASS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAGGCCACA

About this image

AASS expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

CyT49 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See AASS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AASS

SOURCE GeneReport for Unigene cluster: Hs.156738

UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

Tissue specificity: Expressed in all 16 tissues examined with highest expression in the liver

SABiosciences Expression via Pathway-Focused PCR Arrays including AASS:

Nephrotoxicity in human mouse rat

Amino Acid Metabolism II in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AASS gene from 10/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Aass^{1 , 5}	aminoadipate-semialdehyde synthase^{1, 5}	84.68(n)¹ 87.57(a)¹		6 (10.27 cM)⁵ 30956¹ NM_013930.4¹ NP_038958.2¹ 23072173⁵
chicken (Gallus gallus)	Aves	AASS¹	aminoadipate-semialdehyde synthase	74.18(n) 76.02(a)		417757 XM_416001.3 XP_416001.2
lizard (Anolis carolinensis)	Reptilia	AASS⁶	--	75(a)	1 ↔ 1	5(68405922-68440333)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX773433.1²	--	74.98(n)		BX773433.1
zebrafish (Danio rerio)	Actinopterygii	aass¹	aminoadipate-semialdehyde synthase	64.93(n) 67.15(a)		556229 NM_001173985.1 NP_001167456.1
fruit fly (Drosophila melanogaster)	Insecta	BEST:CK02318³ LKR¹	saccharopine dehydrogenase (NAD+, L-lysine forming)³ lysine ketoglutarate reductase¹	51(a)³ 54.02(n)¹ 52.01(a)¹		28C4³ 34064¹ NM_135306.2¹ NP_609150.2¹
worm (Caenorhabditis elegans)	Secernentea	R02D3.1³ CELE_R02D3.1¹	dehydrogenase³ Protein R02D3.1¹	48(a)³ 55.19(n)¹ 49.28(a)¹		IV(245197-251718)³ 176842¹ NM_067483.3¹ NP_499884.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	LYS9(YNR050C)⁴ LYS9¹	Saccharopine dehydrogenase (NADP+, L-glutamate-forming); more⁴ Lys9p¹	50.49(n)¹ 39.64(a)¹		14(715388-714048)⁴ 855786^{1, 4} NP_014448.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G33150¹	lysine-ketoglutarate reductase/saccharopine dehydrogenase more	48.5(n) 39.31(a)		829452 NM_179155.3 NP_849486.1
rice (Oryza sativa)	Liliopsida	AK120371.1²	--	75.39(n)		AK120371.1

ENSEMBL Gene Tree for AASS (if available)
TreeFam Gene Tree for AASS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201851916^1,2	C	--	116086573(-)	`TCTCTC/TTCTTT`	1	--	int¹		0	--	--	--	--
rs200559809^1,2	C	--	116138784(-)	`GTTTTC/TTTTTT`	1	--	int¹		0	--	--	--	--
rs35456415^1,2	C	--	116149198(+)	`CTGCC-/TTCCTA`	1	--	us2k¹		1		NA	2
rs115823340^1,2	C,F	--	121107811(+)	`AATTCT/CCATTG`	1	--	ds500¹		1		WA	118
rs12674287^1,2	C,F,H	--	121107918(+)	`GCGCCG/ATTTTA`	1	--	ds500¹		16		NS EA NA CSA WA	2092
rs79208795^1,2	F	--	121108512(+)	`TCTCTA/GTATAT`	1	--	ut3¹		1		EA	120
rs12540216^1,2	C,H	--	121108772(+)	`atctgC/Tgcaca`	1	--	ut3¹		0	--	--	--	--
rs74985500^1,2	C,F	--	121109301(+)	`ATTTAC/TGCCAT`	1	--	ut3¹		1		WA	118
rs116748506^1,2	C,F	--	121109377(+)	`TTTTTA/GTATGC`	1	--	ut3¹		2		WA NA	238
rs76950096^1,2		--	121110245(+)	`AGGGGG/AAAATA`	1	--	ut3¹		3		CSA WA EA	240

HapMap Linkage Disequilibrium report for AASS (121713598 - 121784344 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AASS: --
Human Gene Mutation Database (HGMD): AASS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AASS

DNA2.0 Custom Variant and Variant Library Synthesis for AASS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AASS for disorders           About GeneDecksing

OMIM gene information: 605113
OMIM disorders: 238700  268700
UniProtKB/Swiss-Prot: AASS_HUMAN, Q9UDR5

Defects in AASS are the cause of hyperlysinemia (HYPLYS) [MIM:238700]. Hyperlysinemia is an autosomal

recessive condition characterized by hyperlysinemia lysinuria and variable saccharopinuria

15 diseases for AASS: About MalaCards

hyperlysinemia peliosis hepatis saccharopinuria nemaline myopathy

drug dependence diabetes mellitus diabetic retinopathy anoxia

myopathy ischemia breast lymphoma hepatocellular carcinoma

pharyngitis carcinoma hepatitis

3 Novoseek disease relationships for AASS gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
diabetes mellitus	3.91	2	9513410 (1), 12355795 (1)
ischemia	0	2	11021367 (2)
edema	0	1	8063356 (1)

Human Genome Epidemiology (HuGE) Navigator: AASS (1 document)

Export disorders for AASS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AASS gene, integrated from 9 sources (see all 80):
(articles sorted by number of sources associating them with AASS)

Utopia: connect your pdf to the dynamic
world of online information

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (PubMed id 10775527)^{1, 2, 3, 9} Sacksteder K.A.... Geraghty M.T. (2000)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
The enzymology of lysine catabolism in rice seeds--isolation, characterization, and regulatory properties of a lysine 2-oxoglutarate reductase/saccharopine dehydrogenase bifunctional polypeptide. (PubMed id 9249048)^{7, 9} Gaziola S.A....Azevedo R.A. (1997)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)¹ Richter R....Chrzanowska-Lightowlers Z.M. (2010)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)¹ Giannone R.J....Liu Y. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10157	HGNC: 17366	AceView: AASS	Ensembl:ENSG00000008311	euGenes: HUgn10157
ECgene: AASS	Kegg: 10157	H-InvDB: AASS

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AASS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AASS

Intellectual Property for AASS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AASS gene:
Search GeneIP for patents involving AASS

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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aminoadipate-semialdehyde synthase

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