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

31 structures for P08579

Entry ID Method Resolution Chain Position Source
1A9N X-ray 238 A B/D 1-96 PDB
5MQF EM 590 A X 1-225 PDB
5O9Z EM 450 A 1 1-225 PDB
5XJC EM 360 A p 1-225 PDB
5YZG EM 410 A p 1-225 PDB
5Z56 EM 510 A p 1-225 PDB
5Z57 EM 650 A p 1-225 PDB
5Z58 EM 490 A p 1-225 PDB
6AH0 EM 570 A p 1-225 PDB
6AHD EM 380 A p 1-225 PDB
6FF7 EM 450 A X 1-225 PDB
6ICZ EM 300 A p 1-225 PDB
6ID0 EM 290 A p 1-225 PDB
6ID1 EM 286 A p 1-225 PDB
6QDV EM 330 A Y 3-94 PDB
6QX9 EM 328 A 2B 1-225 PDB
6Y53 EM 710 A b 1-225 PDB
6Y5Q EM 710 A b 1-225 PDB
7A5P EM 500 A X 1-225 PDB
7ABG EM 780 A B 1-225 PDB
7ABI EM 800 A B 1-225 PDB
7EVO EM 250 A G 1-225 PDB
7VPX EM 300 A G 1-225 PDB
7W59 EM 360 A p 1-225 PDB
7W5A EM 360 A p 1-225 PDB
7W5B EM 430 A p 1-225 PDB
8C6J EM 280 A Y 1-225 PDB
8CH6 EM 590 A s 1-225 PDB
8HK1 EM 270 A G 1-225 PDB
8QO9 EM 529 A 2B 1-225 PDB
AF-P08579-F1 Predicted AlphaFoldDB

119 variants for P08579

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9771048
rs756678488
3 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs780379983
CA9771049
4 R>S No ClinGen
ExAC
gnomAD
rs550195499
CA312227651
5 P>L No ClinGen
1000Genomes
rs749672995
CA9771050
6 N>D No ClinGen
ExAC
gnomAD
CA408310972
rs1440365305
7 H>Q No ClinGen
gnomAD
rs1287802668
CA408310978
8 T>I No ClinGen
gnomAD
rs1287802668
CA408310976
8 T>K No ClinGen
gnomAD
rs769071088
CA9771051
9 I>V No ClinGen
ExAC
gnomAD
CA312227654
rs892030383
10 Y>C No ClinGen
TOPMed
gnomAD
CA408310988
rs892030383
10 Y>S No ClinGen
TOPMed
gnomAD
rs939073941
CA312227659
12 N>S No ClinGen
Ensembl
CA408311019
rs1333831606
14 M>R No ClinGen
gnomAD
CA9771053
rs747858296
15 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA9771054
rs138493707
17 K>R No ClinGen
ESP
ExAC
gnomAD
VAR_035487 19 K>Q a colorectal cancer sample; somatic mutation [UniProt] No UniProt
CA312227678
COSM4141340
rs6111264
22 E>K ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
CA408311076
rs6111264
22 E>Q No ClinGen
TOPMed
rs1194521885
CA408311097
23 L>* No ClinGen
gnomAD
CA9771071
rs748490519
26 S>T No ClinGen
ExAC
gnomAD
TCGA novel 27 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs564815966
CA312228162
27 L>P No ClinGen
1000Genomes
gnomAD
CA9771074
rs746541036
36 H>N No ClinGen
ExAC
gnomAD
rs146906743
CA9771075
36 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9771077
rs757434273
38 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA408311211
rs1227350186
40 I>T No ClinGen
gnomAD
rs200193714
CA312228200
41 V>E No ClinGen
1000Genomes
rs1485916042
CA408311251
46 M>I No ClinGen
gnomAD
CA312228208
rs907418701
46 M>V No ClinGen
TOPMed
gnomAD
CA408311267
rs1206186045
48 M>T No ClinGen
gnomAD
rs1048573148
CA312228245
49 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 51 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1439238892
CA408311291
52 A>T No ClinGen
TOPMed
rs1555817698
CA9771082
55 I>M No ClinGen
Ensembl
rs767798003
CA9771084
57 K>E No ClinGen
ExAC
gnomAD
rs773244742
CA408311340
59 L>V No ClinGen
ExAC
gnomAD
CA9771086
rs760943329
61 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA408311363
rs1377086435
63 T>A No ClinGen
gnomAD
rs1454397307
CA408311370
64 N>Y No ClinGen
gnomAD
CA312228284
rs888630608
70 Q>* No ClinGen
Ensembl
CA408311455
rs1326326275
COSM1024761
76 G>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1490927374
CA408311453
76 G>R No ClinGen
TOPMed
CA408311463
rs1293494985
77 K>I No ClinGen
TOPMed
CA9771090
rs139323338
79 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765852324
CA9771108
80 R>* No ClinGen
ExAC
gnomAD
rs753187978
CA9771109
80 R>Q No ClinGen
ExAC
gnomAD
rs1481078123
CA408312459
83 Y>C No ClinGen
gnomAD
rs1249635444
CA408312466
84 A>T No ClinGen
gnomAD
CA408312510
rs1308465688
86 T>R No ClinGen
TOPMed
CA9771113
rs756892682
88 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 89 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370082966
CA408312600
91 I>M No ClinGen
TOPMed
CA312232489
rs868508953
91 I>V No ClinGen
Ensembl
CA9771116
rs755558697
94 M>V No ClinGen
ExAC
CA9771118
rs377685264
95 R>C No ClinGen
ESP
ExAC
gnomAD
rs377685264
CA9771117
95 R>G No ClinGen
ESP
ExAC
gnomAD
CA9771119
rs768613886
95 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756378077
CA9771120
96 G>D* No ClinGen
ExAC
CA9771122
rs747933050
99 A>G No ClinGen
ExAC
gnomAD
CA408312692
rs1463193280
99 A>T No ClinGen
gnomAD
CA408312697
rs1349309885
100 D>N No ClinGen
gnomAD
CA408312722
rs1288488834
103 K>E No ClinGen
TOPMed
TCGA novel 106 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs865801799
CA312232560
106 E>K No ClinGen
Ensembl
TCGA novel 106 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776935953
CA9771125
107 K>R No ClinGen
ExAC
gnomAD
rs1227114666
CA408312760
108 K>E No ClinGen
gnomAD
TCGA novel 110 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408312775
rs1312457795
110 A>S No ClinGen
gnomAD
rs957693215
CA312232571
111 K>R No ClinGen
TOPMed
CA9771128
rs781579916
113 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1482870427
CA408312808
115 Q>* No ClinGen
gnomAD
rs1454234729
CA408312823
117 A>T No ClinGen
TOPMed
CA9771129
rs775689768
117 A>V No ClinGen
ExAC
gnomAD
CA9771130
rs763411300
118 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs764622835
CA9771131
119 T>I No ClinGen
ExAC
gnomAD
rs1181275593
CA408312843
121 N>D No ClinGen
TOPMed
gnomAD
rs1419946069
CA408312867
124 P>A No ClinGen
gnomAD
rs1434111312
CA408312871
124 P>L No ClinGen
TOPMed
rs751894701
CA408312879
125 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA9771132
rs751894701
125 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1434967377
CA408312887
126 Q>R No ClinGen
gnomAD
rs770109949
CA9771148
127 G>R No ClinGen
ExAC
gnomAD
CA408313350
rs1346258356
128 T>P No ClinGen
gnomAD
rs1332205689
CA408313396
135 Q>* No ClinGen
Ensembl
CA408313402
rs763041649
135 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA408313428
rs1441897373
139 T>I No ClinGen
gnomAD
rs769059926
CA9771151
142 P>A No ClinGen
ExAC
gnomAD
rs774858280
CA9771152
142 P>L No ClinGen
ExAC
gnomAD
rs1375697919
CA408313472
144 V>A No ClinGen
gnomAD
TCGA novel 144 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9771169
rs1555818566
145 P>A No ClinGen
Ensembl
rs1226477962
CA408313483
146 D>V No ClinGen
TOPMed
gnomAD
CA408313508
rs1413695757
150 N>Y No ClinGen
TOPMed
rs143329029
CA9771171
151 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA408313525
rs1335427089
152 I>T No ClinGen
gnomAD
CA408313608
rs1234100519
164 E>K No ClinGen
gnomAD
rs1411817766
CA408313661
171 F>I No ClinGen
gnomAD
CA408313667
rs1183826435
171 F>L No ClinGen
TOPMed
rs1299570230
CA408313730
178 K>R No ClinGen
gnomAD
TCGA novel 181 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1280407960
CA408313750
181 R>H No ClinGen
gnomAD
rs1381650776
CA408313763
183 V>G No ClinGen
TOPMed
rs372236210
CA312188877
189 I>V No ClinGen
ESP
TOPMed
gnomAD
rs1568755850
CA408313855
196 N>H No ClinGen
Ensembl
rs1454189462
CA408313861
196 N>T No ClinGen
TOPMed
CA9771207
rs764757509
197 D>H No ClinGen
ExAC
gnomAD
rs375598794
CA408313926
201 G>* No ClinGen
ESP
ExAC
gnomAD
rs375598794
CA9771208
201 G>R No ClinGen
ESP
ExAC
gnomAD
rs751616704
CA9771211
208 Q>* No ClinGen
ExAC
gnomAD
rs1467681562
CA408314069
211 K>R No ClinGen
gnomAD
TCGA novel 212 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA408314080
rs1170924591
212 I>V No ClinGen
gnomAD
CA9771212
rs757251293
214 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 216 H>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9771214
rs750149251
216 H>R No ClinGen
ExAC
gnomAD
rs1460464097
CA408314189
220 I>V No ClinGen
TOPMed
rs1374698100
CA408314222
222 Y>C No ClinGen
TOPMed
CA408314250
rs1170950913
224 K>R No ClinGen
TOPMed

No associated diseases with P08579

No regional properties for P08579

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P08579

Functions

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

11 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.
cytoplasmic ribonucleoprotein granule A ribonucleoprotein granule located in the cytoplasm.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
spliceosomal complex Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U1 snRNP A ribonucleoprotein complex that contains small nuclear RNA U1, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U1 snRNP, most of which remain associated with the U1 snRNA both while the U1 snRNP is free or assembled into a series of spliceosomal complexes.
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 catalytic step 2 spliceosome A spliceosomal complex that contains the U2, U5 and U6 snRNPs 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 U2, U5 and U6 snRNPs.
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.

1 GO annotations of molecular function

Name Definition
U1 snRNA binding Binding to a U1 small nuclear RNA (U1 snRNA).

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.
U2-type prespliceosome assembly The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P09012 SNRPA U1 small nuclear ribonucleoprotein A Homo sapiens (Human) PR
Q6ZRY4 RBPMS2 RNA-binding protein with multiple splicing 2 Homo sapiens (Human) PR
10 20 30 40 50 60
MDIRPNHTIY INNMNDKIKK EELKRSLYAL FSQFGHVVDI VALKTMKMRG QAFVIFKELG
70 80 90 100 110 120
SSTNALRQLQ GFPFYGKPMR IQYAKTDSDI ISKMRGTFAD KEKKKEKKKA KTVEQTATTT
130 140 150 160 170 180
NKKPGQGTPN SANTQGNSTP NPQVPDYPPN YILFLNNLPE ETNEMMLSML FNQFPGFKEV
190 200 210 220
RLVPGRHDIA FVEFENDGQA GAARDALQGF KITPSHAMKI TYAKK