Q8HY67
Gene name |
ANP32A |
Protein name |
Acidic leucine-rich nuclear phosphoprotein 32 family member A |
Names |
Inhibitor-1 of protein phosphatase type 2A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
|
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE C FAMILY PROTEIN (PTHR10336) |
Descriptions
PLCB1 catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), and mediates intracellular signaling downstream of G protein-coupled receptors. Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel, at residues 468-539, and occludes the active site of PLCB1. The active site of a PLC isozyme toward phospholipid membranes should force the negatively charged X/Y linker away from the active site, therein relieving autoinhibition of the enzyme.
Autoinhibitory domains (AIDs)
Target domain |
1-163 (Leucine-rich region) |
Relief mechanism |
PTM, Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
0 structures for Q8HY67
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|
No variants for Q8HY67
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| No variants for Q8HY67 | |||||
1 associated diseases with Q8HY67
[MIM: 613722]: Developmental and epileptic encephalopathy 12 (DEE12)
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q8HY67
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | ATP-dependent RNA helicase DEAD-box, conserved site | 150 - 158 | IPR000629 |
| domain | Helicase, C-terminal | 218 - 382 | IPR001650 |
| domain | DEAD/DEAH box helicase domain | 26 - 195 | IPR011545 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 21 - 222 | IPR014001 |
| domain | RNA helicase, DEAD-box type, Q motif | 2 - 30 | IPR014014 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51122 | ANP32A | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Bos taurus (Bovine) | SS |
| Q9V895 | Anp32a | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Drosophila melanogaster (Fruit fly) | SS |
| P39687 | ANP32A | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Homo sapiens (Human) | EV |
| O43423 | ANP32CP | Putative uncharacterized protein ANP32CP | Homo sapiens (Human) | SS |
| O35381 | Anp32a | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Mus musculus (Mouse) | SS |
| P49911 | Anp32a | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Rattus norvegicus (Rat) | SS |
| Q7Y180 | Os03g0668900 | Acidic leucine-rich nuclear phosphoprotein 32-related protein 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q9SCQ7 | At3g50690 | Acidic leucine-rich nuclear phosphoprotein 32-related protein | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q7ZUP0 | anp32a | Acidic leucine-rich nuclear phosphoprotein 32 family member A | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAQPGVHA | LQLKPVCVSD | SLKKGTKFVK | WDDDSTIVTP | IILRTDPQGF | FFYWTDQNKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TELLDLSLVK | DARCGRHAKA | PKDPKLRELL | DVGNIGRLEQ | RMITVVYGPD | LVNISHLNLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AFQEEVAKEW | TNEVFSLATN | LLAQNMSRDA | FLEKAYTKLK | LQVTPEGRIP | LKNIYRLFSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DRKRVETALE | ACSLPSSRND | SIPQEDFTPE | VYRVFLNNLC | PRPEIDNIFS | EFGAKSKPYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVDQMMDFIN | LKQRDPRLNE | ILYPPLKQEQ | VQVLIEKYEP | NNSLARKGQI | SVDGFMRYLS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GEENGVVSPE | KLDLNEDMSQ | PLSHYFINSS | HNTYLTAGQL | AGNSSVEMYR | QVLLSGCRCV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELDCWKGRTA | EEEPVITHGF | TMTTEISFKE | VIEAIAECAF | KTSPFPILLS | FENHVDSPKQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QAKMAEYCRL | IFGDALLMEP | LEKYPLESGV | PLPSPMDLMY | KILVKNKKKS | HKSSEGSGKK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KLSEQASNTY | SDSSSMFEPS | SPGAGEADTE | SDDDDDDDDC | KKSSMDEGTA | GSEAMATEEM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SNLVNYIQPV | KFESFEISKK | RNKSFEMSSF | VETKGLEQLT | KSPVEFVEYN | KMQLSRIYPK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GTRVDSSNYM | PQLFWNAGCQ | MVALNFQTMD | LAMQINMGMY | EYNGKSGYRL | KPEFMRRPDK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HFDPFTEGIV | DGIVANTLSV | KIISGQFLSD | KKVGTYVEVD | MFGLPVDTRR | KAFKTKTSQG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NAVNPVWEEE | PIVFKKVVLP | TLACLRIAVY | EEGGKFIGHR | ILPVQAIRPG | YHYICLRNER |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NQPLTLPAVF | VYIEVKDYVP | DTYADVIEAL | SNPIRYVNLM | EQRAKQLAAL | TLEDEEEVKK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EADPGETPSE | APSEARTTPA | ENGVNHTTTL | TPKPPSQALH | SQPAPGSVKA | PAKTEDLIQS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VLTEVEAQTI | EELKQQKSFV | KLQKKHYKEM | KDLVKRHHKK | TTDLIKEHTT | KYNEIQNDYL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RRRAALEKSA | KKDSKKKSEP | SSPDHGSSTI | EQDLAALDAE | MTQKLIDLKD | KQQQQLLNLR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| QEQYYSEKYQ | KREHIKLLIQ | KLTDVAEECQ | NNQLKKLKEI | CEKEKKELKK | KMDKKRQEKI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| TEAKSKDKSQ | MEEEKTEMIR | SYIQEVVQYI | KRLEEAQSKR | QEKLVEKHKE | IRQQILDEKP |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KLQVELEQEY | QDKFKRLPLE | ILEFVQEAMK | GKISEDSNHG | SAPLSLSSDP | GKVNHKTPSS |
| 1210 | |||||
| EELGGDIPGK | EFDTPL |