Gene Page: CCBL1
Summary ?
| GeneID | 883 |
| Symbol | CCBL1 |
| Synonyms | GTK|KAT1|KATI |
| Description | cysteine conjugate-beta lyase, cytoplasmic |
| Reference | MIM:600547|HGNC:HGNC:1564|Ensembl:ENSG00000171097|HPRD:02769|Vega:OTTHUMG00000020767 |
| Gene type | protein-coding |
| Map location | 9q34.11 |
| Pascal p-value | 8.53E-5 |
| Sherlock p-value | 0.365 |
| eGene | Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 1 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs331593 | chr13 | 111203725 | CCBL1 | 883 | 0.12 | trans | ||
| rs6030380 | chr20 | 41255804 | CCBL1 | 883 | 0.15 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0016212 | kynurenine-oxoglutarate transaminase activity | IEA | glutamate (GO term level: 6) | - |
| GO:0016769 | transferase activity, transferring nitrogenous groups | IEA | - | |
| GO:0016829 | lyase activity | IEA | - | |
| GO:0016847 | 1-aminocyclopropane-1-carboxylate synthase activity | IEA | - | |
| GO:0047804 | cysteine-S-conjugate beta-lyase activity | IEA | - | |
| GO:0030170 | pyridoxal phosphate binding | IEA | - | |
| GO:0047316 | glutamine-phenylpyruvate transaminase activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0009058 | biosynthetic process | IEA | - | |
| GO:0006575 | amino acid derivative metabolic process | TAS | 7883047 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005829 | cytosol | TAS | 7883047 | |
| GO:0005737 | cytoplasm | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES | 200 | 136 | All SZGR 2.0 genes in this pathway |
| REACTOME AMINO ACID SYNTHESIS AND INTERCONVERSION TRANSAMINATION | 17 | 14 | All SZGR 2.0 genes in this pathway |
| REACTOME TRYPTOPHAN CATABOLISM | 11 | 9 | All SZGR 2.0 genes in this pathway |
| GAUSSMANN MLL AF4 FUSION TARGETS G UP | 238 | 135 | All SZGR 2.0 genes in this pathway |
| PUJANA BRCA1 PCC NETWORK | 1652 | 1023 | All SZGR 2.0 genes in this pathway |
| ZHANG TARGETS OF EWSR1 FLI1 FUSION | 88 | 68 | All SZGR 2.0 genes in this pathway |
| RIZKI TUMOR INVASIVENESS 3D UP | 210 | 124 | All SZGR 2.0 genes in this pathway |
| YAUCH HEDGEHOG SIGNALING PARACRINE DN | 264 | 159 | All SZGR 2.0 genes in this pathway |
| CHEN METABOLIC SYNDROM NETWORK | 1210 | 725 | All SZGR 2.0 genes in this pathway |
| OHGUCHI LIVER HNF4A TARGETS DN | 149 | 85 | All SZGR 2.0 genes in this pathway |
| SERVITJA LIVER HNF1A TARGETS DN | 157 | 105 | All SZGR 2.0 genes in this pathway |
| FOSTER KDM1A TARGETS UP | 266 | 142 | All SZGR 2.0 genes in this pathway |