| 2443 | Cth | cystathionine gamma-lyase | ENCODES a protein that exhibits cystathionine gamma-lyase activity (ortholog); identical protein binding (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); INVOLVED IN glutathione metabolic process; negative regulation of cell growth; negative regulation of cell population pro liferation; PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH cataract; amino acid metabolic disorder (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); INTERACTS WITH (+)-schisandrin B; 1,2,4-trimethylbenzene; 1,2-dimethylhydrazine | 2 | 249634731 | 249661066 | Rat | 429 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 732084 | CTH | cystathionine gamma-lyase | 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] | 1 | 70411268 | 70439851 | Human | 482 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 732085 | Cth | cystathionine gamma lyase | Enables L-cystine L-cysteine-lyase (deaminating) and cystathionine gamma-lyase activity. Involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and protein sulfhydration. Acts upstream o f or within cellular response to leukemia inhibitory factor and negative regulation of apoptotic signaling pathway. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; ear; and genitourinary system. Used to study cystathioninuria. Human ortholog(s) of this gene implicated in amino acid metabolic disorder and cystathioninuria. Orthologous to human CTH (cystathionine gamma-lyase). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 157599885 | 157630718 | Mouse | 459 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9020582 | Cth | cystathionine gamma-lyase | ENCODES a protein that exhibits cystathionine gamma-lyase activity (ortholog); identical protein binding (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); hydroge n sulfide biosynthetic process (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog) | NW_004955423 | 21542587 | 21567935 | Chinchilla | 56 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11898572 | CTH | cystathionine gamma-lyase | ENCODES a protein that exhibits carbon-sulfur lyase activity (inferred); cystathionine gamma-lyase activity (inferred); homocysteine desulfhydrase activity (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); negative regulatio n of apoptotic signaling pathway (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred) | 1 | 69646608 | 69674301 | Bonobo | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12146301 | CTH | cystathionine gamma-lyase | ENCODES a protein that exhibits identical protein binding (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); hydrogen sulfide biosynthetic process (ortholog); PART ICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog) | 6 | 75324328 | 75348476 | Dog | 61 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12559995 | Cth | cystathionine gamma-lyase | ENCODES a protein that exhibits carbon-sulfur lyase activity (inferred); cystathionine gamma-lyase activity (inferred); homocysteine desulfhydrase activity (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); negative regulatio n of apoptotic signaling pathway (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred) | NW_004936591 | 1619446 | 1643667 | Squirrel | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13954283 | CTH | cystathionine gamma-lyase | ENCODES a protein that exhibits cystathionine gamma-lyase activity (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); pyridoxal phosphate binding (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); hydro gen sulfide biosynthetic process (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred); INTERACTS WITH ethanol; folic acid; graphene oxide | | | | Pig | 81 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 18593769 | CTH | cystathionine gamma-lyase | ENCODES a protein that exhibits carbon-sulfur lyase activity (inferred); cystathionine gamma-lyase activity (inferred); homocysteine desulfhydrase activity (inferred); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); negative regulatio n of apoptotic signaling pathway (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred) | | | | Green Monkey | 65 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18910186 | Cth | cystathionine gamma-lyase | ENCODES a protein that exhibits identical protein binding (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); hydrogen sulfide biosynthetic process (ortholog); PART ICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog); FOUND IN cytoplasm (inferred) | | | | Naked Mole-Rat | 63 | symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 155242891 | cth | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626087615 | Cth | cystathionine gamma-lyase | ENCODES a protein that exhibits cystathionine gamma-lyase activity (ortholog); identical protein binding (ortholog); L-cystine L-cysteine-lyase (deaminating) activity (ortholog); INVOLVED IN cellular response to leukemia inhibitory factor (ortholog); glutathione metabolic process (ortholog); hydroge n sulfide biosynthetic process (ortholog); PARTICIPATES IN cystathioninuria pathway; cysteine metabolic pathway; dihydropyrimidine dehydrogenase deficiency pathway; ASSOCIATED WITH amino acid metabolic disorder (ortholog); cataract (ortholog); cystathioninuria (ortholog) | | | | Black Rat | 56 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14375939 | cth-1 | | | | | | Roundworm | | symbol | gene, null |
| 14375940 | cth-2 | | | | | | Roundworm | | symbol | gene, null |
| 155242892 | cth.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155243330 | cth.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 1344618 | VSIG2 | V-set and immunoglobulin domain containing 2 | Predicted to be involved in lipid metabolic process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 11 | 124747474 | 124752255 | Human | 34 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 736055 | Cyth1 | cytohesin 1 | Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within establishment of epithelial cell polarity. Located in bicellular tight junction; cytoplasmic side of plasma membrane; and cytosol. Is expressed in nervous system. Orthologous to human CYTH1 (cytohesin 1). [provided by All iance of Genome Resources, Jul 2025] | 11 | 118054996 | 118139452 | Mouse | 110 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 14375805 | CTH1 | | | | | | Yeast | | symbol | gene, null |
| 628801 | Cthrc1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (ortholog); Wnt-protein binding (ortholog); INVOLVED IN cell migration; cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASSOCIATED WIT H Barrett's esophagus (ortholog); FOUND IN extracellular matrix; cytoplasm (ortholog); extracellular space (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil | 7 | 72007372 | 72017654 | Rat | 135 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1352911 | CTHRC1 | collagen triple helix repeat containing 1 | This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] | 8 | 103371538 | 103382989 | Human | 139 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1550461 | Cthrc1 | collagen triple helix repeat containing 1 | Enables Wnt-protein binding activity and frizzled binding activity. Acts upstream of or within several processes, including establishment of planar polarity involved in neural tube closure; inner ear development; and negative regulation of canonical Wnt signaling pathway. Located in sarcoplasm. Is e xpressed in several structures, including central nervous system; genitourinary system; heart; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in Barrett's esophagus. Orthologous to human CTHRC1 (collagen triple helix repeat containing 1). [provided by Alliance of Genome Resources, Jul 2025] | 15 | 38940327 | 38950516 | Mouse | 170 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9045391 | Cthrc1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (ortholog); Wnt-protein binding (ortholog); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); extracellular space (ortholog) | NW_004955417 | 27520420 | 27525907 | Chinchilla | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11752775 | CTHRC1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (inferred); Wnt-protein binding (inferred); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN extracellular matrix (ortholog) | 8 | 100027417 | 100038945 | Bonobo | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12179672 | CTHRC1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (inferred); Wnt-protein binding (inferred); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN extracellular matrix (ortholog); INTERACTS WITH bisphenol A | 13 | 4801049 | 4811565 | Dog | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12722344 | Cthrc1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (inferred); Wnt-protein binding (inferred); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN extracellular matrix (ortholog) | NW_004936470 | 40381215 | 40392105 | Squirrel | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14100824 | CTHRC1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (inferred); Wnt-protein binding (inferred); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN extracellular matrix (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 24 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18634231 | CTHRC1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (inferred); Wnt-protein binding (inferred); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN extracellular matrix (ortholog) | | | | Green Monkey | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18923367 | Cthrc1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (ortholog); Wnt-protein binding (ortholog); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); extracellular space (ortholog) | | | | Naked Mole-Rat | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155252207 | cthrc1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626097668 | Cthrc1 | collagen triple helix repeat containing 1 | ENCODES a protein that exhibits frizzled binding (ortholog); Wnt-protein binding (ortholog); INVOLVED IN cell migration (ortholog); cochlea morphogenesis (ortholog); establishment of planar polarity involved in neural tube closure (ortholog); PARTICIPATES IN Wnt signaling, non-canonical pathway; ASS OCIATED WITH Barrett's esophagus (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); extracellular space (ortholog) | | | | Black Rat | 19 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155260033 | cthrc1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155252444 | cthrc1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 10400005 | CTHRC1P1 | collagen triple helix repeat containing 1 pseudogene 1 | | X | 79177200 | 79177668 | Human | | symbol , COSMIC , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1603362 | NKX2-6 | NK2 homeobox 6 | This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011] | 8 | 23701740 | 23706756 | Human | 156 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1317100 | TBX1 | T-box transcription factor 1 | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] | 22 | 19756703 | 19783593 | Human | 644 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 737501 | PKM | pyruvate kinase M1/2 | This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011] | 15 | 72199029 | 72231591 | Human | 475 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 7244483 | CDIPTOSP | CDIP transferase opposite strand, pseudogene | ENCODES a pseudogene that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN positive regulation of transcription by RNA polymerase II (ortholog); INTERACTS WITH 2-hydroxypropanoic acid; methylmercury chloride; propanal | 16 | 29863683 | 29868053 | Human | 12 | old_gene_symbol | gene, pseudo, VALIDATED [RefSeq] |