Name | Number of supported studies | Average coverage | |
---|---|---|---|
epithelial cell of proximal tubule | 6 studies | 23% ± 4% | |
epithelial cell | 6 studies | 31% ± 13% | |
ciliated cell | 4 studies | 24% ± 7% | |
goblet cell | 4 studies | 21% ± 3% | |
endothelial cell | 3 studies | 19% ± 5% | |
macrophage | 3 studies | 18% ± 2% | |
abnormal cell | 3 studies | 17% ± 1% | |
intestinal crypt stem cell | 3 studies | 16% ± 1% | |
astrocyte | 3 studies | 20% ± 2% | |
hepatocyte | 3 studies | 39% ± 22% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
liver | 100% | 11127.98 | 226 / 226 | 100% | 66.04 | 406 / 406 |
ovary | 100% | 1394.57 | 180 / 180 | 100% | 19.32 | 430 / 430 |
pancreas | 100% | 1266.45 | 328 / 328 | 100% | 25.43 | 178 / 178 |
prostate | 100% | 2318.45 | 245 / 245 | 100% | 38.29 | 502 / 502 |
thymus | 100% | 2688.11 | 653 / 653 | 100% | 43.00 | 605 / 605 |
kidney | 100% | 5172.04 | 89 / 89 | 100% | 38.04 | 900 / 901 |
lung | 100% | 1780.39 | 577 / 578 | 100% | 23.33 | 1155 / 1155 |
stomach | 100% | 2308.42 | 359 / 359 | 100% | 22.01 | 285 / 286 |
intestine | 100% | 2603.27 | 966 / 966 | 100% | 26.53 | 525 / 527 |
skin | 100% | 1923.40 | 1809 / 1809 | 100% | 24.83 | 470 / 472 |
uterus | 100% | 1580.64 | 170 / 170 | 100% | 25.48 | 457 / 459 |
bladder | 100% | 2127.24 | 21 / 21 | 99% | 29.13 | 501 / 504 |
brain | 99% | 1142.09 | 2623 / 2642 | 100% | 20.12 | 705 / 705 |
adrenal gland | 100% | 4315.20 | 258 / 258 | 99% | 21.58 | 228 / 230 |
breast | 100% | 2013.19 | 459 / 459 | 99% | 27.35 | 1108 / 1118 |
esophagus | 100% | 2028.03 | 1445 / 1445 | 99% | 13.74 | 181 / 183 |
adipose | 100% | 2008.67 | 1204 / 1204 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 28.06 | 29 / 29 |
spleen | 100% | 2005.49 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 22.88 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 22.36 | 1 / 1 |
muscle | 100% | 2018.53 | 802 / 803 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 1834.77 | 1333 / 1335 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 99% | 25.98 | 79 / 80 |
heart | 99% | 1542.36 | 849 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 94% | 1341.03 | 876 / 929 | 0% | 0 | 0 / 0 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0046951 | Biological process | ketone body biosynthetic process |
GO_0007005 | Biological process | mitochondrion organization |
GO_0006629 | Biological process | lipid metabolic process |
GO_0006552 | Biological process | L-leucine catabolic process |
GO_0032991 | Cellular component | protein-containing complex |
GO_0005829 | Cellular component | cytosol |
GO_0005777 | Cellular component | peroxisome |
GO_0005782 | Cellular component | peroxisomal matrix |
GO_0005759 | Cellular component | mitochondrial matrix |
GO_0005739 | Cellular component | mitochondrion |
GO_0030145 | Molecular function | manganese ion binding |
GO_0004419 | Molecular function | hydroxymethylglutaryl-CoA lyase activity |
GO_0046872 | Molecular function | metal ion binding |
GO_0000287 | Molecular function | magnesium ion binding |
GO_0005198 | Molecular function | structural molecule activity |
Gene name | HMGCL |
Protein name | Hydroxymethylglutaryl-CoA lyase, mitochondrial (HL) (HMG-CoA lyase) (EC 4.1.3.4) (3-hydroxy-3-methylglutarate-CoA lyase) Mutant 3-hydroxymethyl-3-methylglutaryl-CoA lyase, transcript variant 1 Alternative protein HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial (EC 4.1.3.4) (3-hydroxy-3-methylglutarate-CoA lyase) |
Synonyms | hCG_37683 |
Description | FUNCTION: Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. . FUNCTION: Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. . FUNCTION: Mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. . |
Accessions | ENST00000374490.8 [P35914-1] P35914 ENST00000436439.6 [P35914-2] L8EC54 ENST00000235958.4 H0Y2L7 B1AK13 G8FGB4 |