Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
breast | 98% | 15192.90 | 452 / 459 | 98% | 35.39 | 1100 / 1118 |
lung | 99% | 13301.35 | 570 / 578 | 98% | 33.64 | 1134 / 1155 |
intestine | 99% | 11916.46 | 959 / 966 | 95% | 24.62 | 501 / 527 |
esophagus | 98% | 20781.97 | 1415 / 1445 | 96% | 31.50 | 176 / 183 |
bladder | 100% | 12634.71 | 21 / 21 | 89% | 25.53 | 449 / 504 |
ovary | 89% | 8067.69 | 161 / 180 | 97% | 38.50 | 415 / 430 |
stomach | 84% | 8389.49 | 303 / 359 | 99% | 33.67 | 282 / 286 |
thymus | 89% | 7598.07 | 583 / 653 | 93% | 19.98 | 564 / 605 |
uterus | 83% | 7209.18 | 141 / 170 | 98% | 39.46 | 449 / 459 |
pancreas | 81% | 5196.29 | 265 / 328 | 96% | 28.34 | 170 / 178 |
prostate | 86% | 5982.42 | 211 / 245 | 87% | 14.69 | 439 / 502 |
adrenal gland | 95% | 7605.51 | 244 / 258 | 78% | 13.53 | 179 / 230 |
skin | 74% | 5996.00 | 1342 / 1809 | 83% | 28.22 | 393 / 472 |
brain | 27% | 1004.37 | 713 / 2642 | 100% | 34.91 | 703 / 705 |
kidney | 27% | 1735.44 | 24 / 89 | 86% | 26.94 | 779 / 901 |
lymph node | 0% | 0 | 0 / 0 | 100% | 53.85 | 29 / 29 |
liver | 13% | 482.73 | 30 / 226 | 87% | 15.11 | 352 / 406 |
adipose | 100% | 17801.90 | 1200 / 1204 | 0% | 0 | 0 / 0 |
spleen | 98% | 11491.47 | 237 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 98% | 42.97 | 44 / 45 |
blood vessel | 94% | 15024.43 | 1257 / 1335 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 89% | 25.43 | 71 / 80 |
peripheral blood | 80% | 6081.98 | 741 / 929 | 0% | 0 | 0 / 0 |
heart | 74% | 6316.88 | 633 / 861 | 0% | 0 | 0 / 0 |
muscle | 42% | 2304.54 | 334 / 803 | 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 |
ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
GO_0045087 | Biological process | innate immune response |
GO_0051607 | Biological process | defense response to virus |
GO_0006974 | Biological process | DNA damage response |
GO_0006203 | Biological process | dGTP catabolic process |
GO_0051289 | Biological process | protein homotetramerization |
GO_0110025 | Biological process | DNA strand resection involved in replication fork processing |
GO_0000724 | Biological process | double-strand break repair via homologous recombination |
GO_0045088 | Biological process | regulation of innate immune response |
GO_0006955 | Biological process | immune response |
GO_0060339 | Biological process | negative regulation of type I interferon-mediated signaling pathway |
GO_0016446 | Biological process | somatic hypermutation of immunoglobulin genes |
GO_0009264 | Biological process | deoxyribonucleotide catabolic process |
GO_0046061 | Biological process | dATP catabolic process |
GO_0005886 | Cellular component | plasma membrane |
GO_0005654 | Cellular component | nucleoplasm |
GO_0097197 | Cellular component | tetraspanin-enriched microdomain |
GO_0035861 | Cellular component | site of double-strand break |
GO_0005634 | Cellular component | nucleus |
GO_0003676 | Molecular function | nucleic acid binding |
GO_0003697 | Molecular function | single-stranded DNA binding |
GO_0008832 | Molecular function | dGTPase activity |
GO_0106375 | Molecular function | deoxynucleoside triphosphate hydrolase activity |
GO_0042802 | Molecular function | identical protein binding |
GO_0016793 | Molecular function | triphosphoric monoester hydrolase activity |
GO_0005525 | Molecular function | GTP binding |
GO_0008270 | Molecular function | zinc ion binding |
GO_0032567 | Molecular function | dGTP binding |
GO_0003723 | Molecular function | RNA binding |
GO_0005515 | Molecular function | protein binding |
GO_0004540 | Molecular function | RNA nuclease activity |
Gene name | SAMHD1 |
Protein name | Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (dNTPase) (EC 3.1.5.-) (Dendritic cell-derived IFNG-induced protein) (DCIP) (Monocyte protein 5) (MOP-5) (SAM domain and HD domain-containing protein 1) (hSAMHD1) Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
Synonyms | MOP5 |
Description | FUNCTION: Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks . Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells . Likewise, suppresses LINE-1 retrotransposon activity . Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx . In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools . Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks . Functions during S phase at stalled DNA replication forks to promote the resection of gapped or reversed forks: acts by stimulating the exonuclease activity of MRE11, activating the ATR-CHK1 pathway and allowing the forks to restart replication . Its ability to promote degradation of nascent DNA at stalled replication forks is required to prevent induction of type I interferons, thereby preventing chronic inflammation . Ability to promote DNA end resection at stalled replication forks is independent of dNTPase activity . Enhances immunoglobulin hypermutation in B-lymphocytes by promoting transversion mutation (By similarity). . |
Accessions | A0A2R8YCS7 ENST00000646673.2 [Q9Y3Z3-1] A0A2R8Y7R5 A0A2R8YG48 A0A2R8YF18 ENST00000646066.1 [Q9Y3Z3-3] ENST00000646904.1 ENST00000642246.1 ENST00000647163.1 A0A2R8Y755 ENST00000644250.2 [Q9Y3Z3-4] A0A2R8YFV6 ENST00000645033.1 A0A2R8Y5D2 A0A2R8YF51 ENST00000262878.5 [Q9Y3Z3-4] ENST00000643078.1 ENST00000642616.1 ENST00000645444.2 A0A2R8YDI8 A0A2R8YD90 ENST00000683720.1 ENST00000643825.1 ENST00000644250 A0A2R8Y586 ENST00000646869.1 [Q9Y3Z3-1] A0A804HL67 ENST00000646866.1 ENST00000642186.1 ENST00000646121.1 ENST00000683766.1 [Q9Y3Z3-1] ENST00000643918.1 ENST00000644114.2 ENST00000465985.2 Q9Y3Z3 ENST00000682773.1 [Q9Y3Z3-1] |