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 Q9LDW3

Entry ID Method Resolution Chain Position Source
AF-Q9LDW3-F1 Predicted AlphaFoldDB

125 variants for Q9LDW3

Variant ID(s) Position Change Description Diseaes Association Provenance
ENSVATH02751758 8 G>S No 1000Genomes
ENSVATH00480626 14 G>S No 1000Genomes
ENSVATH11323965 17 T>I No 1000Genomes
tmp_4_5631371_C_T 25 P>L No 1000Genomes
ENSVATH02751759 27 T>I No 1000Genomes
tmp_4_5631404_T_A 36 F>Y No 1000Genomes
tmp_4_5631409_G_A 38 G>S No 1000Genomes
ENSVATH14096949 41 T>R No 1000Genomes
ENSVATH14096950 49 R>Q No 1000Genomes
ENSVATH11323966 52 D>V No 1000Genomes
ENSVATH06579109 58 A>S No 1000Genomes
ENSVATH02751761 60 G>S No 1000Genomes
ENSVATH02751762 60 G>V No 1000Genomes
ENSVATH06579110 62 D>G No 1000Genomes
ENSVATH11323967 63 M>L No 1000Genomes
ENSVATH00480630 70 S>A No 1000Genomes
ENSVATH11323968 73 S>R No 1000Genomes
tmp_4_5631523_G_A,T 76 D>N No 1000Genomes
tmp_4_5631523_G_A,T 76 D>Y No 1000Genomes
ENSVATH11323969 77 E>V No 1000Genomes
ENSVATH06579112 79 S>R No 1000Genomes
ENSVATH02751764 80 N>I No 1000Genomes
ENSVATH02751764 80 N>S No 1000Genomes
ENSVATH02751765 82 F>L No 1000Genomes
ENSVATH00480631 86 S>C No 1000Genomes
ENSVATH00480631 86 S>G No 1000Genomes
ENSVATH00480631 86 S>R No 1000Genomes
tmp_4_5631559_T_A 88 S>T No 1000Genomes
tmp_4_5631584_G_A 96 R>H No 1000Genomes
ENSVATH06579113 107 S>C No 1000Genomes
ENSVATH11323971 120 F>L No 1000Genomes
tmp_4_5631660_A_C 121 E>D No 1000Genomes
ENSVATH06579114 122 Q>H No 1000Genomes
ENSVATH00480633 125 R>S No 1000Genomes
ENSVATH06579115 128 A>V No 1000Genomes
ENSVATH00480635 138 S>G No 1000Genomes
tmp_4_5631716_T_A 140 V>D No 1000Genomes
tmp_4_5631718_G_A 141 G>S No 1000Genomes
ENSVATH02751767 142 D>E No 1000Genomes
ENSVATH02751766 142 D>Y No 1000Genomes
ENSVATH11323972 143 G>S No 1000Genomes
ENSVATH00480636 147 H>L No 1000Genomes
ENSVATH00480636 147 H>R No 1000Genomes
tmp_4_5631755_C_T 153 A>V No 1000Genomes
ENSVATH11323973 155 Q>* No 1000Genomes
ENSVATH06579116 156 E>D No 1000Genomes
ENSVATH02751768 158 S>F No 1000Genomes
ENSVATH11323974 159 N>S No 1000Genomes
ENSVATH00480637 164 C>G No 1000Genomes
ENSVATH00480638 172 L>H No 1000Genomes
ENSVATH00480638 172 L>R No 1000Genomes
tmp_4_5631836_T_C 180 L>S No 1000Genomes
ENSVATH00480639 187 I>M No 1000Genomes
ENSVATH06579117 188 R>Q No 1000Genomes
tmp_4_5631863_G_A 189 R>Q No 1000Genomes
ENSVATH06579118 195 P>S No 1000Genomes
tmp_4_5631910_G_A 205 E>K No 1000Genomes
ENSVATH06579119 211 F>L No 1000Genomes
tmp_4_5631946_T_C 217 S>P No 1000Genomes
ENSVATH00480641 227 M>T No 1000Genomes
ENSVATH06579120 231 E>K No 1000Genomes
tmp_4_5632028_G_A 244 G>D No 1000Genomes
ENSVATH06579122 246 V>G No 1000Genomes
tmp_4_5632048_A_G 251 K>E No 1000Genomes
tmp_4_5632060_G_C 255 G>R No 1000Genomes
ENSVATH06579123 257 R>* No 1000Genomes
ENSVATH06579124 262 F>S No 1000Genomes
ENSVATH02751770 263 V>I No 1000Genomes
tmp_4_5632093_G_C 266 G>R No 1000Genomes
ENSVATH02751771 267 N>S No 1000Genomes
ENSVATH02751772 270 D>N No 1000Genomes
tmp_4_5632113_G_T 272 M>I No 1000Genomes
ENSVATH11324026 274 I>V No 1000Genomes
ENSVATH02751773 278 V>M No 1000Genomes
ENSVATH14096951 283 I>T No 1000Genomes
tmp_4_5632168_G_A 291 G>S No 1000Genomes
tmp_4_5632186_A_G 297 K>E No 1000Genomes
ENSVATH00480643 299 I>N No 1000Genomes
ENSVATH00480643 299 I>T No 1000Genomes
tmp_4_5632210_G_A 305 E>K No 1000Genomes
tmp_4_5632222_C_A,G 309 Q>E No 1000Genomes
tmp_4_5632222_C_A,G 309 Q>K No 1000Genomes
tmp_4_5632235_G_A 313 R>K No 1000Genomes
tmp_4_5632278_C_A 327 N>K No 1000Genomes
tmp_4_5632737_G_T 332 R>L No 1000Genomes
tmp_4_5632740_T_C 333 V>A No 1000Genomes
tmp_4_5632749_A_T 336 K>M No 1000Genomes
ENSVATH06579141 341 V>M No 1000Genomes
ENSVATH06579142 342 T>P No 1000Genomes
tmp_4_5632796_T_A 352 S>T No 1000Genomes
ENSVATH06579143 361 L>F No 1000Genomes
ENSVATH06579144 368 N>S No 1000Genomes
ENSVATH00480647 392 K>N No 1000Genomes
ENSVATH02751790 399 T>S No 1000Genomes
tmp_4_5633035_G_A 401 R>H No 1000Genomes
tmp_4_5633047_G_C 405 C>S No 1000Genomes
tmp_4_5633064_G_A,T 411 V>F No 1000Genomes
tmp_4_5633064_G_A,T 411 V>I No 1000Genomes
tmp_4_5633076_G_A 415 V>I No 1000Genomes
ENSVATH02751793 418 Q>P No 1000Genomes
tmp_4_5633101_T_G 423 V>G No 1000Genomes
tmp_4_5633115_A_C,G 428 R>G No 1000Genomes
tmp_4_5633133_G_T 434 A>S No 1000Genomes
ENSVATH00480651 437 P>R No 1000Genomes
ENSVATH11324083 442 L>M No 1000Genomes
tmp_4_5633364_G_A 443 V>M No 1000Genomes
tmp_4_5633414_G_A,C 459 E>D No 1000Genomes
ENSVATH14096998 463 N>Y No 1000Genomes
ENSVATH11324105 468 A>T No 1000Genomes
tmp_4_5633497_G_A 487 S>N No 1000Genomes
ENSVATH14096999 487 S>R No 1000Genomes
ENSVATH11324106 490 Q>L No 1000Genomes
ENSVATH00480653 499 L>P No 1000Genomes
ENSVATH02751796 500 N>T No 1000Genomes
ENSVATH02751798 502 G>R No 1000Genomes
ENSVATH06579148 507 D>H No 1000Genomes
ENSVATH06579149 509 Y>* No 1000Genomes
ENSVATH06579150 515 Q>H No 1000Genomes
ENSVATH00480654 519 S>A No 1000Genomes
ENSVATH02751799 519 S>L No 1000Genomes
ENSVATH02751800 521 T>S No 1000Genomes
tmp_4_5633681_G_T 525 V>F No 1000Genomes
tmp_4_5633728_G_T 540 K>N No 1000Genomes
ENSVATH11324112 541 M>T No 1000Genomes
ENSVATH00480656 542 T>S No 1000Genomes

2 associated diseases with Q9LDW3

[MIM: 137750]: Glaucoma 1, open angle, A (GLC1A)

A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 231300]: Glaucoma 3, primary congenital, A (GLC3A)

An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.

Without disease ID
  • A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:15795224, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:25524706, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.

1 regional properties for Q9LDW3

Type Name Position InterPro Accession
domain Serine dehydratase-like, alpha subunit 90 - 422 IPR005130

Functions

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

1 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

1 GO annotations of molecular function

Name Definition
mRNA binding Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.

2 GO annotations of biological process

Name Definition
post-transcriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript.
regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9C9R6 APUM7 Putative pumilio homolog 7, chloroplastic Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDFGFFPGDL RQRGSFTDLG FNGFPLTSSV SNGFHFSGDR TTNPFLNLRK LDTTSLMADG
70 80 90 100 110 120
VDMGLCQNLS KMSISDERSN FFNHSSFSGY GCYQGRESSF HGEASSSMRG FVGYGDVHRF
130 140 150 160 170 180
EQDLRVRASF HGESAMSSYV GDGSDYHRLR FLALQEASNP NPRCFTENMS LLNRDYMLEL
190 200 210 220 230 240
EHFNQQIRRD FSLVPQKSPL AFHEERILPP FSAMGGSREL DGSAKCMKNK EDSLDLASMV
250 260 270 280 290 300
DSYGSVYLMA KDQLGCRLLQ KFVDEGNFVD VMIIFKEVIN NVIELGTDPF GNYLIQKLIE
310 320 330 340 350 360
VCNEEQRTQI LIRLTSKPGL LVKISINNYG TRVVQKLIET VTTKEQISLV KSALVPGFLS
370 380 390 400 410 420
LFRELNGNHV ILNCLKFFSP NDNKFILEAA TKFCIEIATT RHGCCVLQRC VSYSVGEQHE
430 440 450 460 470 480
KLVDEISRNS LLLAQDPFGN YLVQYIIEKK VGGVNVLFEL RGNYVKLATQ KFGSHVVEKC
490 500 510 520 530 540
LRYYPESRSQ IVNELVSVLN FGYLLQDPYA NYVIQCALSK TKGFVRASLV EKVRRYENLK
550
MTPYCKRIFS KNLWKK