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 Q8BKT3

Entry ID Method Resolution Chain Position Source
AF-Q8BKT3-F1 Predicted AlphaFoldDB

54 variants for Q8BKT3

Variant ID(s) Position Change Description Diseaes Association Provenance
rs263544686 31 A>V No EVA
rs231998321 36 S>F No EVA
rs46104730 78 E>G No EVA
rs47202625 86 T>A No EVA
rs864286785 90 E>G No EVA
rs265436553 93 H>Y No EVA
rs48892714 95 L>S No EVA
rs249731457 97 G>E No EVA
rs3388804604 104 P>S No EVA
rs46947067 115 R>K No EVA
rs51547188 117 V>L No EVA
rs3388837878 121 V>D No EVA
rs248504332 122 E>K No EVA
rs3388804549 171 P>L No EVA
rs3388832383 177 R>K No EVA
rs3388824189 213 D>N No EVA
rs585294970 226 I>M No EVA
rs579903464 228 A>V No EVA
rs240851877 242 T>I No EVA
rs3388837518 292 S>P No EVA
rs36393362 347 R>W No EVA
rs231876289 384 D>N No EVA
rs251661814 392 E>K No EVA
rs3388838823 406 E>D No EVA
rs37753575 411 C>F No EVA
rs236001589 411 C>R No EVA
rs38093098 418 S>A No EVA
rs3388831994 422 E>K No EVA
rs3388841451 426 A>S No EVA
rs36743061 433 K>T No EVA
rs3388832396 447 E>D No EVA
rs3388838852 486 L>P No EVA
rs3388820134 507 G>S No EVA
rs225604218 522 E>G No EVA
rs30934856 526 D>E No EVA
rs237180658 540 A>S No EVA
rs3388844005 546 T>A No EVA
rs251565172 557 T>I No EVA
rs3388837908 578 F>I No EVA
rs3388837474 578 F>Y No EVA
rs3388835830 652 L>I No EVA
rs30808424 677 A>T No EVA
rs232788362 678 V>I No EVA
rs247322527 680 G>E No EVA
rs3388840239 690 I>K No EVA
rs3388837496 710 Q>K No EVA
rs3388832374 713 N>D No EVA
rs3396966488 714 F>L No EVA
rs3396989806 715 I>M No EVA
rs3412852117 715 I>N No EVA
rs257837264 757 R>H No EVA
rs222126958 763 P>T No EVA
rs4226016 766 S>N No EVA
rs3388831973 770 V>R No EVA

No associated diseases with Q8BKT3

1 regional properties for Q8BKT3

Type Name Position InterPro Accession
domain GCF, C-terminal 457 - 670 IPR022783

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nucleoplasm
  • Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
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-type post-mRNA release spliceosomal complex A spliceosomal complex that is formed following the release of the spliced product from the post-spliceosomal complex and contains the excised intron and the U2, U5 and U6 snRNPs.

1 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

2 GO annotations of biological process

Name Definition
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.
spliceosomal complex assembly The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9Y5B6 PAXBP1 PAX3- and PAX7-binding protein 1 Homo sapiens (Human) PR
P16383 GCFC2 Intron Large complex component GCFC2 Homo sapiens (Human) PR
10 20 30 40 50 60
MALRPQRTFR RRQVESSDSD SDSDGAKEQS AEEPASAGGR TEGAERPRGA RSARGRGRVW
70 80 90 100 110 120
ASSRRSPGAA PRGDGGAECR TAELSTDEEE GTHTLTGSKG DRSPSSDSSC SLEERDVSPI
130 140 150 160 170 180
VEIPDAAFIQ AARRKRELAR TPGDYISLDV NHSCSTSDCK RSNEEDPESD PDDHEKRILF
190 200 210 220 230 240
TPKPQTLRQR MAEETSIRSE ESSEESQEDE NQDIWEQQQM RKAVRIPAGQ NTDLSHSSKS
250 260 270 280 290 300
QTLKKFDTSI SFPPVNLEII KKQLNNRLTL LQESHRSHQR EYEKYEQDIK SSKTAIQNLE
310 320 330 340 350 360
SASDHAQNYR FYRGMKSYVE NIIDCLNEKI VSIVELESSM YTLLLKRSEA LLKRRQDELK
370 380 390 400 410 420
CESSYLQQLS RKDETSANGS LAVDEKDQRI LEEIEARRMQ RRQARELSGS CDHQEGMSSD
430 440 450 460 470 480
DELSPAEMTN FHKCQGDILQ DCKKVFEDVH DDFCNVQNIL LKFQQWREKF PDSYYEAFVG
490 500 510 520 530 540
FCLPKLLSPL IRVQLLDWNP LKMDSIGLDK MPWFTAITEF MESSMDDIGK EDGSDKKILA
550 560 570 580 590 600
AVINKTVVPR LTDFVETIWD PLSTSQTRSL TVHCRVAFEQ FASENEVSKN KQDLLKSIVA
610 620 630 640 650 660
RMKKSIEDDI FIPLYPKSSE EGKMSPHSKF QERQFWGALK LFRNILLWNG LLPDDTLQDL
670 680 690 700 710 720
GLGKLLNRYL IISLTNAVPG PDVVKKCSQI AACLPERWFE NSAMRTSIPQ LENFIKFLLQ
730 740 750 760
SAQKLSSSEF RNEVSEIILI LVKVKALTQA ESLREERPLE PLPAQSTGV