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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTH Gene

protein-coding GIFtS: 65
GCID: GC01P070876

cystathionase (cystathionine gamma-lyase)

Explore 28 diseases affiliated with
CTH via

MalaCards

our new
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
Cystathionase (Cystathionine Gamma-Lyase)¹ ²		Gamma-Cystathionase¹
Cysteine-Protein Sulfhydrase² ³		Homoserine Deaminase²
EC 4.4.1.1³ ⁸		Homoserine Dehydratase²
Cystathionine Gamma-Lyase²		Gamma-Cystathionase¹
Cysteine Desulfhydrase²		EC 4.4.1⁸

External Ids:	HGNC: 2501¹	Entrez Gene: 1491²	Ensembl: ENSG00000116761⁷	OMIM: 607657⁵	UniProtKB: P32929³

Export aliases for CTH gene to outside databases

Previous GC identifers: GC01P071000 GC01P069799 GC01P070261 GC01P070246 GC01P070588 GC01P070649 GC01P068987

(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 CTH:

This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from

methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations

in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding

different isoforms. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: CGL_HUMAN, P32929

Function: Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate

specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to

lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the

endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the

regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins:

sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as

GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CTH gene promoter:
AhR CUTL1 Arnt AREB6 Max IRF-2 FOXO1a Sox9 FOXO1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CTH promoter sequence

Search SABiosciences Chromatin IP Primers for CTH

Epigenetics:

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

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

Entrez Gene cytogenetic band: 1p31.1 Ensembl cytogenetic band: 1p31.1 HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P070876: view genomic region (about GC identifiers)

Start:	70,876,901 bp from pter	End:	70,905,534 bp from pter
Size:	28,634 bases	Orientation:	plus strand

(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: CGL_HUMAN, P32929 (See protein sequence)

Recommended Name: Cystathionine gamma-lyase

Size: 405 amino acids; 44508 Da

Cofactor: Pyridoxal phosphate

Subunit: Homotetramer. Interacts with CALM in a calcium-dependent manner (By similarity)

Subcellular location: Cytoplasm

3 PDB 3D structures from and Proteopedia for CTH:

2NMP (3D)

3COG (3D)

3ELP (3D)

Secondary accessions: Q53FB3 Q53Y79 Q9H4W7 Q9H4W8

Alternative splicing: 2 isoforms: P32929-1 P32929-2

Explore the universe of human proteins at neXtProt for CTH: NX_P32929

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P32929

4/13 DME Specific Peptides for CTH (P32929) (see all 13)

VVDNTFMS

RLSVGLED

VVPPISLS

NCLEKAVA

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

REFSEQ proteins (3 alternative transcripts):

NP_001177392.1 NP_001893.2 NP_714964.2

ENSEMBL proteins:

ENSP00000359976 ENSP00000311554 ENSP00000413407

Reactome Protein details: P32929
Human Recombinant Protein Products for CTH:

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	Novus Biologicals CTH Proteins Novus Biologicals CTH Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for CTH
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

CTH for ontologies About GeneDecksing

CTH Antibody Products:

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Assay Products for CTH:

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	Browse ELISAs and CLIAs at Uscn

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

CTH for domains About GeneDecksing

4 InterPro domains/families:

IPR000277 Cys/Met-Metab_PyrdxlP-dep_enz

IPR015422 PyrdxlP-dep_Trfase_major_sub2

IPR015424 PyrdxlP-dep_Trfase

IPR015421 PyrdxlP-dep_Trfase_major_sub1

Graphical View of Domain Structure for InterPro Entry P32929

ProtoNet protein and cluster: P32929

1 Blocks protein family: IPB000277 Cys/Met metabolism pyridoxal-phosphate-dependent enzymes

UniProtKB/Swiss-Prot: CGL_HUMAN, P32929

Similarity: Belongs to the trans-sulfuration enzymes 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: CGL_HUMAN, P32929

Function: Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate

specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to

lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the

endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the

regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins:

sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as

GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function

Catalytic activity: L-cystathionine + H(2)O = L-cysteine + NH(3) + 2-oxobutanoate

Enzyme regulation: Inhibited by propargylglycine, trifluoroalanine and aminoethoxyvinylglycine

Biophysicochemical properties: Kinetic parameters: KM=0.5 mM for L-cystathionine; KM=5.4 mM for homocysteine; KM=3.5 mM

for cysteine; pH dependence: Optimum pH is 8.2;

Genatlas biochemistry entry for CTH:

cystathionase,sulfur aminoacid metabolism

Enzyme Numbers (IUBMB): EC 4.4.1.1¹ ² EC 4.4.1²

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004121	cystathionine beta-lyase activity	--	--
GO:0004123	cystathionine gamma-lyase activity	TAS	--
GO:0005515	protein binding	IPI	--
GO:0005516	calmodulin binding	IEA	--

CTH for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cth):

behavior/neurological	cardiovascular system	cellular	growth/size	homeostasis/metabolism
liver/biliary system	mortality/aging	muscle	renal/urinary system

CTH for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cth^tm1Liwu for CTH

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CTH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTH
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate CTH (see all 14):
		hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3653 hsa-miR-4282 hsa-miR-3647-3p hsa-miR-1297

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CTH
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTH (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTH (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CTH (NM_153742)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTH

(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 - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Methionine metabolism

	Methionine metabolism	1.00			cysteine biosynthesis III (mammalia)	0.44
	Methionine metabolism	1.00			superpathway of methionine degradation	0.38

Cysteine formation from homocysteine

	cysteine biosynthesis/homocysteine degradation	1.00			L-cysteine degradation II	0.50
	Cysteine formation from homocysteine	1.00

Sulfur amino acid metabolism

Sulfur amino acid metabolism

1.00

Cysteine and methionine metabolism

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CTH

Methionine metabolism

1 GeneGo (Thomson Reuters) Pathway for CTH

Methionine metabolism

5 BioSystems Pathways for CTH

	Selenium Pathway
	superpathway of methionine degradation
	cysteine biosynthesis III (mammalia)
	L-cysteine degradation II
	cysteine biosynthesis/homocysteine degradation

5 Reactome Pathways for CTH

	Metabolism
	Sulfur amino acid metabolism
	Degradation of cysteine and homocysteine
	Metabolism of amino acids and derivatives
	Cysteine formation from homocysteine

1 PharmGKB Pathway for CTH

Busulfan Pathway, Pharmacodynamics

5 Kegg Pathways (Kegg details for CTH):

	Glycine, serine and threonine metabolism
	Cysteine and methionine metabolism
	Selenocompound metabolism
	Nitrogen metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: CGL_HUMAN, P32929

Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 2/2

CTH for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/141 Interacting proteins for CTH (P32929^{2, 3} ENSP00000359976⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 141)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3319239 I2D: score=1 STRING: ENSP00000309503
PPAT	Q06203³, ENSP00000264220⁴	I2D: score=4 STRING: ENSP00000264220
GCLC	P48506³, ENSP00000229416⁴	I2D: score=1 STRING: ENSP00000229416
MARS	P56192³, ENSP00000262027⁴	I2D: score=1 STRING: ENSP00000262027
ZMPSTE24	O75844³, ENSP00000361845⁴	I2D: score=1 STRING: ENSP00000361845

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000096	sulfur amino acid metabolic process	TAS	--
GO:0000098	sulfur amino acid catabolic process	TAS	--
GO:0006520	cellular amino acid metabolic process	--	--
GO:0006534	cysteine metabolic process	TAS	1339280
GO:0006749	glutathione metabolic process	--	--

CTH 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

CTH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CTH

10/13 HMDB Compounds for CTH (see all 13) About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Ketobutyric acid	2-Ketobutanoate (see all 35)	600-18-0	--
3-Mercaptopyruvic acid	3-Mercaptopyruvate (see all 13)	2464-23-5	--
Ammonia	NH3 (see all 31)	7664-41-7	--
Hydrogen sulfide	Dihydrogen disulfide (see all 24)	7783-06-4	--
L-Cystathionine	L-(+)-Cystathionine (see all 6)	56-88-2	--
L-Cysteine	(+)-2-Amino-3-mercaptopropionic acid (see all 37)	52-90-4	--
L-Cystine	(-)-Cystine (see all 31)	56-89-3	--
Pyridoxal 5'-phosphate	Apolon B6 (see all 27)	54-47-7	--
Pyruvic acid	2-Oxopropanoate (see all 14)	127-17-3	--
Selenocystathionine	Selenate (see all 7)	2196-58-9	--

5 DrugBank Compounds for CTH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyridoxal Phosphate	Codecarboxylase (see all 9)	54-47-7	target	cofactor	17377202 11578145 15184188 16857832 15823094
L-Cysteine	(R)-2-Amino-3-mercaptopropanoic acid (see all 13)	52-90-4	target	--	16428267 16108046 17634391
L-2-amino-3-butynoic acid	(S)-2-Amino-3-butynoic acid (see all 4)	73537-09-4	target	--	10954021 10592235
2-[(3-Hydroxy-2-Methyl-5-Phosphonooxymethyl-Pyridin-4-Ylmethyl)-Imino]-5-Phosphono-Pent-3-Enoic Acid	--	--	target	--	10592235
Carboxymethylthio-3-(3-Chlorophenyl)-1,2,4-Oxadiazol	--	--	target	--	10592235

10/24 Novoseek chemical compound relationships for CTH gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystathionine	96.6	135	17095121 (8), 10212249 (4), 12574942 (3), 9299397 (3) (see all 62)
propargylglycine	95.2	14	10212249 (1), 15157211 (1), 2033464 (1), 7923149 (1) (see all 7)
3-mercaptopyruvate	85.4	4	15329822 (1), 19654230 (1), 18781374 (1), 11785922 (1)
sulfur	83.5	22	17112409 (2), 19261609 (1), 19531479 (1), 16781459 (1) (see all 18)
o-succinylhomoserine	82.8	1	8112347 (1)
cysteine	78.9	48	11010904 (2), 17377202 (1), 19261609 (1), 2033464 (1) (see all 35)
homocysteine	75.6	11	12574942 (1), 20361707 (1), 12631446 (1), 19685245 (1) (see all 10)
methionine	72.7	14	2366104 (1), 9488680 (1), 12574942 (1), 15038791 (1) (see all 13)
pyridoxal 5-phosphate	70.2	7	17377202 (1), 19019829 (1), 10609891 (1), 18476726 (1)
cystine	65.7	5	19886835 (3), 2033464 (1), 20028852 (1)

Search CenterWatch for drugs/clinical trials and news about CTH / CGL

(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 CTH gene (3 alternative transcripts):

NM_001190463.1 NM_001902.5 NM_153742.4

Unigene Cluster for CTH:

Cystathionase (cystathionine gamma-lyase)

Hs.19904 [show with all ESTs]

Unigene Representative Sequence: NM_001902

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

ENST00000464926 ENST00000370938(uc009wbl.2) ENST00000346806 ENST00000482383

ENST00000411986(uc001dfd.3 uc010oqq.2 uc001dfe.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CTH Browse OriGene MicroRNA Expression Plasmids
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		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate CTH (see all 14):
		hsa-miR-222* hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-3653 hsa-miR-4282 hsa-miR-3647-3p hsa-miR-1297

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CTH

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		GenScript: all cDNA clones in your preferred vector (see all 3): CTH (NM_153742)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTH

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CTH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTH

Additional cDNA sequence:

AK223376.1 AK303946.1 BC015807.2 BT006882.1 S52028.1 S52784.1

5 DOTS entries:

DT.91759951 DT.100776268 DT.100655616 DT.91759947 DT.91759950

24/67 AceView cDNA sequences (see all 67):

BX094409 BE552296 NM_001902 AI355971 BE463900 BM930334 NM_153742 BQ229593

BC015807 BU627168 BU164448 BT006882 BU173156 BG500887 S52028 BU183034

S52784 BE048573 BV202019 BI752951 AI961230 BX495454 BM683800 BX954902

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CTH About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12a	·	12b	·	12c
SP1:							-																		-
SP2:							-								-										-
SP3:							-				-
SP4:
SP5:

ECgene alternative splicing isoforms for CTH

(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

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

About this image

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.19904

SABiosciences Expression via Pathway-Focused PCR Array including CTH:

Amino Acid Metabolism I in human mouse rat

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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 last universal common ancestor (LUCA).

Orthologs for CTH gene from 11/39 species (see all 39) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cth^{1 , 5}	cystathionase (cystathionine gamma-lyase)^{1, 5}	81.61(n)¹ 85.64(a)¹		3 (81.55 cM)⁵ 107869¹ NM_145953.2¹ NP_666065.1¹ 157894248⁵
chicken (Gallus gallus)	Aves	CTH¹	cystathionase (cystathionine gamma-lyase)	74.7(n) 79.23(a)		424716 XM_422542.3 XP_422542.2
lizard (Anolis carolinensis)	Reptilia	CTH⁶	--	75(a)	1 ↔ 1	GL343328.1(1243735-1272465)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23893²	Xenopus laevis transcribed sequence with moderate similarity more	77.31(n)		BU905591.1
zebrafish (Danio rerio)	Actinopterygii	wufb48e03²	Danio rerio cDNA clone MGC66001 IMAGE6792913, complete more	74.55(n)		BC056538.1
fruit fly (Drosophila melanogaster)	Insecta	Eip55E^{1 , 3}	sulfur amino acid metabolism cystathionine-gamma-lyase³ CG5345-PA¹	62(a)³ 59.39(n)¹ 63.42(a)¹		55E3³ 37143¹ NM_137508.3¹ NP_611352.1¹
worm (Caenorhabditis elegans)	Secernentea	ZK1127.10³ cth-2¹	cystathionine gamma-lyase³ Protein CTH-2¹	59(a) (best of 3)³ 60.61(n)¹ 59.74(a)¹		II(7056248-7057875)³ 174155¹ NM_063048.4¹ NP_495449.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CYS3(YAL012W)⁴ CYS3¹	Cystathionine gamma-lyase, catalyzes one of the two more⁴ Cys3p¹	55(n)¹ 53.05(a)¹		1(130799-131983)⁴ 851221^{1, 4} NP_009390.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	CBL¹	cystathionine beta-lyase	51.96(n) 44.13(a)		824872 NM_115564.3 NP_191264.1
rice (Oryza sativa)	Liliopsida	Os06g0175800¹	hypothetical protein	51.08(n) 44.51(a)		4340283 NM_001063486.1 NP_001056951.1

ENSEMBL Gene Tree for CTH (if available)
TreeFam Gene Tree for CTH (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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28941785^1,2	C,F	pathogenic	70881670(+)	`TCCCAC/TTAGGA`	6	T I	mis¹ ese³		2		NA EU	5829
rs28941786^1,2	C	pathogenic	70896071(+)	`TCTTGC/GAAAAC`	6	Q E	mis¹		0	--	--	--	--
rs1021737^1,2	C,F,O,A,H	pathogenic	70904800(+)	`TGGAAG/TTCACA`	6	S I	mis¹		28		NS EA NA WA EU	8818
rs114775678^1,2	C,F	--	70874917(+)	`AGTAAC/TGTAGG`	3	--	us2k¹		1		WA	118
rs192181316^1,2		--	70875070(+)	`CATCCA/GATAAA`	3	--	us2k¹		0	--	--	--	--
rs34465384^1,2	C	--	70875137(+)	`TTTTTTTT/-GAGAT`	3	--	us2k¹		1		NA	2
rs182261527^1,2		--	70875205(+)	`GATCTC/TGGCTC`	3	--	us2k¹		0	--	--	--	--
rs138992755^1,2		--	70875239(+)	`TCAAGC/TGATTC`	3	--	us2k¹		0	--	--	--	--
rs141650328^1,2		--	70875296(+)	`TACGCA/CCAGCT`	3	--	us2k¹		0	--	--	--	--
rs186783589^1,2		--	70875379(+)	`TGATTC/TGCCCA`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CTH (70876901 - 70905534 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CTH: --
Human Gene Mutation Database (HGMD): CTH

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(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

CTH for disorders           About GeneDecksing

OMIM gene information: 607657
OMIM disorders: 219500
UniProtKB/Swiss-Prot: CGL_HUMAN, P32929

Defects in CTH are the cause of cystathioninuria (CSTNU) [MIM:219500]. It is an autosomal recessive phenotype

characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion

20/28 diseases for CTH (see all 28): About MalaCards

cystathioninuria homocysteine, total plasma, elevated gamma-cystathionase deficiency mitochondrial dna depletion syndrome

spina bifida liver cirrhosis hypermethioninemia hyperhomocysteinemia

fabry disease fanconi's anemia homocysteine homocystinuria

essential hypertension gastroduodenitis pulmonary hypertension hypertension

myocarditis anemia pulmonary disease colon cancer

2 diseases from the University of Copenhagen DISEASES database for CTH:

Hypermethioninemia Homocystinuria

5 Novoseek disease relationships for CTH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystathioninuria	91.7	8	12574942 (3), 15887277 (1), 15151507 (1)
hyperhomocysteinemia	66.7	1	19261609 (1)
liver cirrhosis	17.3	1	10994627 (1)
vascular diseases	13	1	12574942 (1)
tumors	2.75	1	7923149 (1)

Genatlas disease: CTH

cystathionuria

Genetic Association Database (GAD): CTH
Human Genome Epidemiology (HuGE) Navigator: CTH (21 documents)

Export disorders for CTH 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 CTH gene, integrated from 9 sources (see all 143):
(articles sorted by number of sources associating them with CTH)

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

Cloning and nucleotide sequence of human liver cDNA encoding for cystathionine gamma-lyase. (PubMed id 1339280)^{1, 2, 3, 9} Lu Y.... Israel Y. (1992)
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). (PubMed id 12574942)^{1, 2, 9} Wang J. and Hegele R.A. (2003)
Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration. (PubMed id 15151507)^{1, 4, 9} Wang J....Hegele R.A. (2004)
Kinetics and inhibition of recombinant human cystathionine gamma-lyase. Toward the rational control of transsulfuration. (PubMed id 10212249)^{1, 2, 9} Steegborn C....Wahl M.C. (1999)
Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S. (PubMed id 19019829)^{1, 2, 9} Sun Q....Sivaraman J. (2009)
H2S biogenesis by human cystathionine gamma-lyase leads to the novel sulfur metabolites lanthionine and homolanthionine and is responsive to the grade of hyperhomocysteinemia. (PubMed id 19261609)^{1, 2, 9} Chiku T.... Banerjee R. (2009)
Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. (PubMed id 18476726)^{1, 2, 9} Zhu W.... Banerjee R. (2008)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Relationship between cystathionine gamma-lyase gene polymorphism and essential hypertension in Northern Chinese Han population. (PubMed id 18701025)^{1, 9} Li Y....Gu D.F. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 1491	HGNC: 2501	AceView: CTH	Ensembl:ENSG00000116761	euGenes: HUgn1491
ECgene: CTH	Kegg: 1491	H-InvDB: CTH

(According to HUGE)
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(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 CTH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTH

Intellectual Property for CTH gene
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Patent Information for CTH gene:
Search GeneIP for patents involving CTH

GeneCards and IP:
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cystathionase (cystathionine gamma-lyase)

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