Q8VCB1
PR
Gene name |
Ndc1 (Tmem48) |
Protein name |
Nucleoporin NDC1 |
Names |
Transmembrane protein 48 |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:72787 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8VCB1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8VCB1-F1 | Predicted | AlphaFoldDB |
47 variants for Q8VCB1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388699881 | 35 | V>L | No | EVA | |
| rs3388693994 | 41 | I>N | No | EVA | |
| rs28147113 | 51 | N>D | No | EVA | |
| rs28147090 | 100 | S>P | No | EVA | |
| rs228685969 | 109 | R>L | No | EVA | |
| rs3388685870 | 118 | H>Y | No | EVA | |
| rs3388703267 | 123 | A>T | No | EVA | |
| rs3388688385 | 128 | A>V | No | EVA | |
| rs3394649749 | 133 | A>V | No | EVA | |
| rs3394699266 | 143 | S>P | No | EVA | |
| rs3388704087 | 158 | A>P | No | EVA | |
| rs3388678200 | 163 | L>F | No | EVA | |
| rs3388699490 | 175 | A>T | No | EVA | |
| rs3388703237 | 185 | Y>N | No | EVA | |
| rs3388699512 | 251 | T>I | No | EVA | |
| rs3388695268 | 258 | P>L | No | EVA | |
| rs212060622 | 321 | N>S | No | EVA | |
| rs3394656147 | 355 | Q>K | No | EVA | |
| rs3388696840 | 369 | E>V | No | EVA | |
| rs3388696914 | 371 | L>F | No | EVA | |
| rs3388692024 | 371 | L>S | No | EVA | |
| rs3388692066 | 373 | L>P | No | EVA | |
| rs3388697314 | 390 | T>I | No | EVA | |
| rs3388697318 | 394 | M>L | No | EVA | |
| rs261971153 | 419 | S>N | No | EVA | |
| rs234520861 | 422 | P>S | No | EVA | |
| rs247783726 | 424 | V>M | No | EVA | |
| rs3388695204 | 428 | V>I | No | EVA | |
| rs3388696829 | 429 | K>* | No | EVA | |
| rs3388692011 | 460 | G>* | No | EVA | |
| rs3388685893 | 467 | F>C | No | EVA | |
| rs227825028 | 468 | S>C | No | EVA | |
| rs3388694017 | 468 | S>P | No | EVA | |
| rs3394699251 | 475 | Q>P | No | EVA | |
| rs3388699753 | 476 | L>P | No | EVA | |
| rs214888551 | 477 | I>T | No | EVA | |
| rs3388678163 | 488 | S>A | No | EVA | |
| rs3388692105 | 499 | S>Y | No | EVA | |
| rs3388699859 | 508 | G>C | No | EVA | |
| rs3388704021 | 547 | E>G | No | EVA | |
| rs3394607161 | 564 | L>LEGK*FKDTTYLLKPKYAFG | No | EVA | |
| rs3388704015 | 572 | A>T | No | EVA | |
| rs28127140 | 612 | S>T | No | EVA | |
| rs3388703278 | 620 | S>G | No | EVA | |
| rs3388687237 | 628 | T>I | No | EVA | |
| rs3388700761 | 634 | R>W | No | EVA | |
| rs3388695209 | 657 | A>V | No | EVA |
No associated diseases with Q8VCB1
No regional properties for Q8VCB1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8VCB1 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| nuclear pore transmembrane ring | A subcomplex of the nuclear pore complex (NPC) that spans the nuclear membrane and anchors the NPC to the nuclear envelope. In S. cerevisiae, the transmembrane ring is composed of Pom152p, Pom34p, and Ndc1p. In vertebrates, it is composed of Gp210, Ndc1, and Pom121. Components are arranged in 8-fold symmetrical 'spokes' around the central transport channel. A single 'spoke', can be isolated and is sometime referred to as the Ndc1 complex. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| structural constituent of nuclear pore | The action of a molecule that contributes to the structural integrity of the nuclear pore complex, a protein-lined channel in the nuclear envelope that allows the transfer of macromolecules. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| homologous chromosome pairing at meiosis | The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| nuclear pore complex assembly | The aggregation, arrangement and bonding together of a set of components to form a nuclear pore complex. |
| nuclear pore localization | Any process in which nuclear pores are transported to, or maintained in, a specific location. |
| nuclear pore organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear pore. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BTX1 | NDC1 | Nucleoporin NDC1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATAASGPCA | GGSPRDILWR | VLGWRIVTSI | VWSVVLLPVC | ITAFIVLSSI | NLFHPIQWLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DSCNDFYSSQ | VIFHLLLLAV | VIIIISIFNV | EFYTVVPSIS | GSRLALIARI | LHPQQLTHSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IHAAMGMAVA | WCAAIMTKGQ | YSSLVVPCTG | TESLDSPAAQ | TCLNEYHLFF | LLSGAFMGYS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YSLLYFINNM | NYLPFPIIQQ | YKFLRFRRSL | LLLVKHSCVE | SLFMVRNFCI | VYYFFGHIPK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AWISTALDLH | TDEQAHRPLD | TIGGLLNVSL | LYHVWLCGVF | LLVTWYSSWI | LFKIYATEAH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VFPVQPPFAE | ASDECLPKVL | NSNPPRIVKY | LALQDLMLLS | QYSPSRRQEV | FSLSQPGGHP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HNWTAISREC | LNLLNDMTQK | LVLYQEAAAT | NGRMYSSYSV | EPKKLSSAEE | TAFQTPKPSQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TPSVPPLVKT | SLFSPKLSTP | NVSSPFGTPF | GSSVVNRMAG | ILDVNPFSGS | PQSPQLIRRG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PRLWTHTSDQ | QVSAISNPSP | CASVTAEGKT | VRQPSVIYSW | IQNKREQIKN | FLSKRVLIMY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FFSKHPEASI | QAVFSDAQMH | IWALEGLSHL | VAASFTEDRF | GVVQTTLPAI | LHTLLTLQEA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VDKYFKLPHA | SSKPPRASGS | LVDTSYKTLR | FAFRASLKTA | IYRITTTFGE | HLNAVQASAE |
| 670 | |||||
| HQKRLQQFLE | FKE |