A2VDN6
Gene name |
SF3A1 |
Protein name |
Splicing factor 3A subunit 1 |
Names |
|
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:504381 |
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 A2VDN6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A2VDN6-F1 | Predicted | AlphaFoldDB |
239 variants for A2VDN6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs438244909 | 9 | V>G | No | EVA | |
| rs456669663 | 9 | V>L | No | EVA | |
| rs476282748 | 10 | P>S | No | EVA | |
| rs432710953 | 15 | A>P | No | EVA | |
| rs465735884 | 16 | A>D | No | EVA | |
| rs453736392 | 21 | Q>H | No | EVA | |
| rs471916014 | 22 | P>H | No | EVA | |
| rs453263192 | 34 | T>P | No | EVA | |
| rs434808504 | 44 | Y>S | No | EVA | |
| rs468067706 | 52 | I>L | No | EVA | |
| rs455985180 | 59 | F>L | No | EVA | |
| rs437321283 | 62 | R>I | No | EVA | |
| rs437380518 | 132 | V>D | No | EVA | |
| rs431910408 | 133 | Q>H | No | EVA | |
| rs450511653 | 133 | Q>K | No | EVA | |
| rs464924359 | 134 | A>G | No | EVA | |
| rs446467277 | 135 | Q>L | No | EVA | |
| rs461265676 | 149 | E>G | No | EVA | |
| rs449063564 | 156 | P>A | No | EVA | |
| rs438880724 | 159 | I>S | No | EVA | |
| rs463819497 | 159 | I>V | No | EVA | |
| rs471956244 | 160 | S>A | No | EVA | |
| rs441196900 | 162 | F>C | No | EVA | |
| rs474280080 | 163 | D>V | No | EVA | |
| rs455893289 | 164 | L>R | No | EVA | |
| rs465512953 | 166 | V>A | No | EVA | |
| rs443755270 | 167 | V>G | No | EVA | |
| rs451928463 | 168 | K>N | No | EVA | |
| rs432046566 | 177 | N>K | No | EVA | |
| rs465093878 | 178 | G>V | No | EVA | |
| rs452896520 | 183 | T>A | No | EVA | |
| rs434380309 | 184 | Q>H | No | EVA | |
| rs467627464 | 189 | E>K | No | EVA | |
| rs449204577 | 192 | N>S | No | EVA | |
| rs482162186 | 193 | Y>S | No | EVA | |
| rs469957795 | 196 | D>A | No | EVA | |
| rs520407793 | 210 | K>N | No | EVA | |
| rs445063845 | 211 | L>M | No | EVA | |
| rs478331499 | 212 | V>G | No | EVA | |
| rs1117321293 | 242 | Q>P | No | EVA | |
| rs479608190 | 293 | G>A | No | EVA | |
| rs461189455 | 296 | P>A | No | EVA | |
| rs442885459 | 299 | T>N | No | EVA | |
| rs482403623 | 300 | T>P | No | EVA | |
| rs463696201 | 301 | P>R | No | EVA | |
| rs471871932 | 303 | E>A | No | EVA | |
| rs438808240 | 303 | E>Q | No | EVA | |
| rs453492251 | 308 | I>N | No | EVA | |
| rs441321015 | 310 | I>S | No | EVA | |
| rs474204314 | 312 | E>G | No | EVA | |
| rs455957526 | 315 | E>G | No | EVA | |
| rs469133332 | 320 | S>G | No | EVA | |
| rs456851734 | 321 | E>* | No | EVA | |
| rs431976949 | 323 | V>G | No | EVA | |
| rs446757212 | 332 | E>G | No | EVA | |
| rs467551602 | 344 | S>Y | No | EVA | |
| rs482349636 | 351 | Q>H | No | EVA | |
| rs467338255 | 352 | V>A | No | EVA | |
| rs438743632 | 354 | D>G | No | EVA | |
| rs463878675 | 354 | D>H | No | EVA | |
| rs464813175 | 362 | E>Q | No | EVA | |
| rs479346567 | 363 | E>D | No | EVA | |
| rs448283611 | 397 | A>V | No | EVA | |
| rs462707992 | 398 | S>P | No | EVA | |
| rs477470518 | 399 | K>R | No | EVA | |
| rs440392356 | 401 | L>M | No | EVA | |
| rs473376546 | 401 | L>R | No | EVA | |
| rs443071810 | 402 | P>H | No | EVA | |
| rs457442498 | 404 | A>G | No | EVA | |
| rs457442498 | 404 | A>V | No | EVA | |
| rs433700035 | 408 | D>E | No | EVA | |
| rs452083113 | 408 | D>G | No | EVA | |
| rs452083113 | 408 | D>V | No | EVA | |
| rs466503778 | 409 | E>G | No | EVA | |
| rs481341283 | 410 | Y>C | No | EVA | |
| rs448100179 | 410 | Y>N | No | EVA | |
| rs450671529 | 411 | L>H | No | EVA | |
| rs458770019 | 412 | V>G | No | EVA | |
| rs440534622 | 413 | S>P | No | EVA | |
| rs461286911 | 415 | I>N | No | EVA | |
| rs476061008 | 416 | T>N | No | EVA | |
| rs442837018 | 416 | T>P | No | EVA | |
| rs439105216 | 419 | K>N | No | EVA | |
| rs453413008 | 420 | I>M | No | EVA | |
| rs471806155 | 420 | I>T | No | EVA | |
| rs433638345 | 424 | K>N | No | EVA | |
| rs466700467 | 427 | E>D | No | EVA | |
| rs454413485 | 429 | M>K | No | EVA | |
| rs435992520 | 430 | R>S | No | EVA | |
| rs450808742 | 434 | L>P | No | EVA | |
| rs469211824 | 434 | L>V | No | EVA | |
| rs477344542 | 435 | D>H | No | EVA | |
| rs479926499 | 438 | W>C | No | EVA | |
| rs446695666 | 438 | W>G | No | EVA | |
| rs461459523 | 439 | L>R | No | EVA | |
| rs482262959 | 442 | R>G | No | EVA | |
| rs463636098 | 442 | R>Q | No | EVA | |
| rs441424535 | 443 | D>E | No | EVA | |
| rs459746893 | 443 | D>G | No | EVA | |
| rs471939714 | 443 | D>H | No | EVA | |
| rs436124655 | 448 | E>* | No | EVA | |
| rs475393854 | 450 | Q>E | No | EVA | |
| rs456953438 | 451 | S>C | No | EVA | |
| rs432229023 | 456 | Y>* | No | EVA | |
| rs465277081 | 457 | A>T | No | EVA | |
| rs446615287 | 458 | P>T | No | EVA | |
| rs434592581 | 459 | G>C | No | EVA | |
| rs457742154 | 491 | E>G | No | EVA | |
| rs472683735 | 499 | K>N | No | EVA | |
| rs439383372 | 499 | K>T | No | EVA | |
| rs136649990 | 503 | D>A | No | EVA | |
| rs442080233 | 506 | S>A | No | EVA | |
| rs475151654 | 508 | S>T | No | EVA | |
| rs456501873 | 511 | R>G | No | EVA | |
| rs438009523 | 511 | R>P | No | EVA | |
| rs471251180 | 512 | T>A | No | EVA | |
| rs452818623 | 514 | Q>H | No | EVA | |
| rs434322088 | 521 | T>P | No | EVA | |
| rs467115469 | 522 | L>R | No | EVA | |
| rs455158241 | 527 | E>K | No | EVA | |
| rs468125814 | 581 | A>P | No | EVA | |
| rs449541617 | 581 | A>V | No | EVA | |
| rs467849509 | 587 | R>G | No | EVA | |
| rs449159310 | 587 | R>P | No | EVA | |
| rs470056639 | 588 | T>P | No | EVA | |
| rs445483824 | 589 | T>P | No | EVA | |
| rs459913565 | 590 | V>A | No | EVA | |
| rs459913565 | 590 | V>G | No | EVA | |
| rs441412053 | 591 | V>L | No | EVA | |
| rs442580760 | 592 | S>C | No | EVA | |
| rs461052816 | 592 | S>P | No | EVA | |
| rs442580760 | 592 | S>Y | No | EVA | |
| rs475393688 | 593 | A>E | No | EVA | |
| rs456953483 | 594 | V>G | No | EVA | |
| rs438667520 | 595 | P>L | No | EVA | |
| rs453038586 | 596 | V>D | No | EVA | |
| rs471696782 | 596 | V>F | No | EVA | |
| rs453038586 | 596 | V>G | No | EVA | |
| rs467445971 | 597 | M>I | No | EVA | |
| rs455671854 | 599 | R>G | No | EVA | |
| rs437286763 | 599 | R>L | No | EVA | |
| rs445216759 | 600 | P>A | No | EVA | |
| rs478524174 | 601 | P>L | No | EVA | |
| rs466427353 | 602 | M>R | No | EVA | |
| rs447814236 | 603 | A>P | No | EVA | |
| rs448975867 | 604 | S>F | No | EVA | |
| rs462388531 | 604 | S>P | No | EVA | |
| rs448975867 | 604 | S>Y | No | EVA | |
| rs463324425 | 606 | V>G | No | EVA | |
| rs471669836 | 611 | G>A | No | EVA | |
| rs455410551 | 617 | M>I | No | EVA | |
| rs473782643 | 617 | M>T | No | EVA | |
| rs476533812 | 621 | I>T | No | EVA | |
| rs433183352 | 627 | N>T | No | EVA | |
| rs466225867 | 628 | V>A | No | EVA | |
| rs447880252 | 629 | V>G | No | EVA | |
| rs450328281 | 638 | I>S | No | EVA | |
| rs481871115 | 639 | M>T | No | EVA | |
| rs444971967 | 641 | P>T | No | EVA | |
| rs441077637 | 646 | M>V | No | EVA | |
| rs473604214 | 651 | A>G | No | EVA | |
| rs473921585 | 651 | A>S | No | EVA | |
| rs473921585 | 651 | A>T | No | EVA | |
| rs473604214 | 651 | A>V | No | EVA | |
| rs455005912 | 653 | V>G | No | EVA | |
| rs455927924 | 655 | A>D | No | EVA | |
| rs474529883 | 655 | A>P | No | EVA | |
| rs437585652 | 656 | P>Q | No | EVA | |
| rs445904866 | 657 | P>S | No | EVA | |
| rs445904866 | 657 | P>T | No | EVA | |
| rs448315346 | 658 | V>A | No | EVA | |
| rs448315346 | 658 | V>G | No | EVA | |
| rs466737755 | 658 | V>L | No | EVA | |
| rs463063231 | 659 | A>E | No | EVA | |
| rs463063231 | 659 | A>G | No | EVA | |
| rs477433574 | 660 | P>A | No | EVA | |
| rs458907993 | 660 | P>L | No | EVA | |
| rs477433574 | 660 | P>T | No | EVA | |
| rs461350807 | 661 | V>A | No | EVA | |
| rs473518859 | 661 | V>F | No | EVA | |
| rs461350807 | 661 | V>G | No | EVA | |
| rs442980764 | 662 | P>L | No | EVA | |
| rs437715116 | 663 | A>G | No | EVA | |
| rs456074374 | 663 | A>P | No | EVA | |
| rs456074374 | 663 | A>S | No | EVA | |
| rs452027301 | 664 | P>Q | No | EVA | |
| rs466874491 | 665 | A>P | No | EVA | |
| rs466874491 | 665 | A>S | No | EVA | |
| rs469216581 | 667 | M>I | No | EVA | |
| rs436169022 | 667 | M>K | No | EVA | |
| rs454686039 | 667 | M>L | No | EVA | |
| rs436169022 | 667 | M>R | No | EVA | |
| rs436169022 | 667 | M>T | No | EVA | |
| rs454686039 | 667 | M>V | No | EVA | |
| rs450948735 | 668 | P>A | No | EVA | |
| rs450948735 | 668 | P>S | No | EVA | |
| rs450948735 | 668 | P>T | No | EVA | |
| rs446827954 | 670 | V>A | No | EVA | |
| rs465334692 | 670 | V>F | No | EVA | |
| rs479870404 | 671 | H>P | No | EVA | |
| rs482204336 | 675 | P>R | No | EVA | |
| rs444083489 | 676 | M>L | No | EVA | |
| rs470696832 | 676 | M>R | No | EVA | |
| rs440042489 | 678 | D>A | No | EVA | |
| rs452036653 | 678 | D>N | No | EVA | |
| rs440042489 | 678 | D>V | No | EVA | |
| rs473034118 | 679 | E>* | No | EVA | |
| rs454817465 | 679 | E>A | No | EVA | |
| rs436302164 | 679 | E>D | No | EVA | |
| rs432430379 | 690 | S>R | No | EVA | |
| rs465425432 | 692 | M>I | No | EVA | |
| rs446792751 | 693 | P>T | No | EVA | |
| rs479604651 | 695 | E>* | No | EVA | |
| rs457679843 | 700 | R>S | No | EVA | |
| rs467633826 | 701 | N>K | No | EVA | |
| rs452468361 | 762 | I>S | No | EVA | |
| rs433760384 | 763 | F>L | No | EVA | |
| rs466796922 | 766 | D>E | No | EVA | |
| rs448583944 | 767 | S>C | No | EVA | |
| rs481594705 | 770 | L>R | No | EVA | |
| rs450797915 | 773 | Y>F | No | EVA | |
| rs469377019 | 773 | Y>H | No | EVA | |
| rs469377019 | 773 | Y>N | No | EVA | |
| rs477696881 | 775 | M>L | No | EVA | |
| rs459071394 | 776 | A>D | No | EVA | |
| rs461412053 | 780 | V>A | No | EVA | |
| rs441670656 | 781 | I>T | No | EVA | |
| rs474731260 | 783 | L>R | No | EVA | |
| rs452403228 | 791 | R>G | No | EVA | |
| rs433899395 | 791 | R>K | No | EVA | |
| rs454747811 | 792 | K>* | No | EVA | |
| rs454747811 | 792 | K>E | No | EVA | |
| rs436448476 | 792 | K>N | No | EVA | |
| rs454747811 | 792 | K>Q | No | EVA | |
| rs469463830 | 793 | K>E | No | EVA | |
| rs451013906 | 793 | K>N | No | EVA | |
| rs477442851 | 794 | K>E | No | EVA | |
| rs477442851 | 794 | K>K | No | EVA | |
| rs465223705 | 794 | K>W | No | EVA |
No associated diseases with A2VDN6
5 regional properties for A2VDN6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SWAP/Surp | 50 - 103 | IPR000061-1 |
| domain | SWAP/Surp | 164 - 217 | IPR000061-2 |
| domain | Ubiquitin-like domain | 707 - 790 | IPR000626 |
| domain | Splicing factor 3A subunit 1, conserved domain | 233 - 472 | IPR022030 |
| domain | Splicing factor 3A subunit 1, ubiquitin domain | 704 - 786 | IPR035563 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| U2 snRNP | A ribonucleoprotein complex that contains small nuclear RNA U2, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U2 snRNP, most of which remain associated with the U2 snRNA both while the U2 snRNP is free or assembled into a series of spliceosomal complexes. |
| U2-type precatalytic spliceosome | A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs. |
| U2-type prespliceosome | A spliceosomal complex that is formed by association of the 5' splice site with the U1 snRNP, while the branch point sequence is recognized by the U2 snRNP. The prespliceosome includes many proteins in addition to those found in the U1 and U2 snRNPs. Commitment to a given pair of 5' and 3' splice sites occurs at the time of prespliceosome formation. |
| U2-type spliceosomal complex | Any spliceosomal complex that forms during the splicing of a messenger RNA primary transcript to excise an intron that has canonical consensus sequences near the 5' and 3' ends. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA cis splicing, via spliceosome | The joining together, after removal of an intervening sequence composed of one or more introns, of two segments of the same RNA molecule via spliceosomal catalysis to produce an mRNA composed only of exon sequences that all came from the same primary transcript. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| U2-type prespliceosome assembly | The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAGPVQAVP | PPPPAATEPK | QPTEEEASSK | EDSTPSKPVV | GIIYPPPEVR | NIVDKTASFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARNGPEFEAR | IRQNEINNPK | FNFLNPNDPY | HAYYRHKVSE | FKEGKAQEPS | AAIPKVMQQQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQASQQQLPQ | KVQAQVIQET | IVPKEPPPEF | EFIADPPSIS | AFDLDVVKLT | AQFVARNGRQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLTQLMQKEQ | RNYQFDFLRP | QHSLFNYFTK | LVEQYTKILI | PPKGLFTKLK | KEAENPREVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DQVCYRVEWA | KFQERERKKE | EEEKEKERVA | YAQIDWHDFV | VVETVDFQPN | EQGNFPPPTT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PEELGARILI | QERYEKFGES | EEVEMEVESD | EEDEKQEKAE | EPPSQLDQDT | QVQDMDEGSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DEEEGQKVPP | PPETPMPPPL | PPTPDQVIVR | KDYDPKASKP | LPPAPAPDEY | LVSPITGEKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PASKMQEHMR | IGLLDPRWLE | QRDRSIREKQ | SDDEVYAPGL | DIESSLKQLA | ERRTDIFGVE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ETAIGKKIGE | EEIQKPEEKV | TWDGHSGSMA | RTQQAAQANI | TLQEQIEAIH | KAKGLVPEDD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TKEKIGPSKP | NEIPQQPPPP | SSATNIPSSA | PPITSVPRPP | AMPPPVRTTV | VSAVPVMPRP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PMASVVRLPP | GSVIAPMPPI | IHAPRINVVP | MPPSAPPIMA | PRPPPMIVPT | AFVPAPPVAP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VPAPAPMPPV | HPPPPMEDEP | ASKKLKTEDS | LMPEEEFLRR | NKGPVSIKVQ | VPNMQDKTEW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KLNGQVLVFT | LPLTDQVSVI | KVKIHEATGM | PAGKQKLQYE | GIFIKDSNSL | AYYNMANGAV |
| 790 | |||||
| IHLALKERGG | RKK |