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 Q9LML6

Entry ID Method Resolution Chain Position Source
AF-Q9LML6-F1 Predicted AlphaFoldDB

41 variants for Q9LML6

Variant ID(s) Position Change Description Diseaes Association Provenance
tmp_1_2225969_A_C 3 K>Q No 1000Genomes
tmp_1_2226047_A_T 29 I>F No 1000Genomes
ENSVATH04533514 37 T>P No 1000Genomes
ENSVATH10727090 50 H>Y No 1000Genomes
ENSVATH13860151 59 I>M No 1000Genomes
ENSVATH13860152 60 A>T No 1000Genomes
ENSVATH10727092 67 L>R No 1000Genomes
ENSVATH04533516 69 D>E No 1000Genomes
ENSVATH10727093 79 F>C No 1000Genomes
ENSVATH10727093 79 F>Y No 1000Genomes
ENSVATH04533517 107 S>I No 1000Genomes
tmp_1_2226294_C_T 111 S>L No 1000Genomes
ENSVATH00009876 117 D>N No 1000Genomes
tmp_1_2226317_G_T 119 V>F No 1000Genomes
ENSVATH04533518 134 V>I No 1000Genomes
ENSVATH10727094 141 L>F No 1000Genomes
ENSVATH04533519 180 E>D No 1000Genomes
tmp_1_2226534_T_C 191 I>T No 1000Genomes
ENSVATH01020734 191 I>V No 1000Genomes
ENSVATH10727477 195 F>Y No 1000Genomes
tmp_1_2226568_T_G 202 N>K No 1000Genomes
ENSVATH00009877 203 K>T No 1000Genomes
ENSVATH10727478 204 E>V No 1000Genomes
tmp_1_2226606_G_A 215 R>K No 1000Genomes
ENSVATH04533520 228 T>M No 1000Genomes
ENSVATH00009878 243 K>N No 1000Genomes
ENSVATH04533521 254 L>I No 1000Genomes
ENSVATH04533522 273 V>F No 1000Genomes
ENSVATH10727482 281 E>A No 1000Genomes
tmp_1_2226806_T_A 282 S>T No 1000Genomes
tmp_1_2226848_G_A 296 D>N No 1000Genomes
tmp_1_2226881_T_A 307 L>M No 1000Genomes
ENSVATH00009879 328 P>S No 1000Genomes
ENSVATH00009880 331 V>M No 1000Genomes
ENSVATH00009882 358 H>Y No 1000Genomes
tmp_1_2227040_G_A 360 A>T No 1000Genomes
ENSVATH00009883 403 L>F No 1000Genomes
tmp_1_2227232_G_A 424 D>N No 1000Genomes
tmp_1_2227242_C_T 427 A>V No 1000Genomes
tmp_1_2227251_T_C 430 V>A No 1000Genomes
ENSVATH04533525 438 D>A No 1000Genomes

1 associated diseases with Q9LML6

[MIM: 616172]: Generalized epilepsy with febrile seizures plus 9 (GEFSP9)

An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269|PubMed:25362483}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269|PubMed:25362483}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q9LML6

Type Name Position InterPro Accession
domain ABC1 atypical kinase-like domain 148 - 406 IPR004147
domain ADCK1-like domain 147 - 408 IPR045307

Functions

Description
EC Number 2.4.1.91 Hexosyltransferases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

7 GO annotations of molecular function

Name Definition
daphnetin 3-O-glucosyltransferase activity Catalysis of the reaction: UDP-alpha-D-glucose(2-) + 7,8-dihydroxycoumarin <=> UDP(3-) + 3-O-beta-D-glucosyl-daphnetin + H+.
flavonol 3-O-glucosyltransferase activity Catalysis of the reaction: UDP-glucose + a flavonol = UDP + a flavonol 3-O-D-glucoside.
flavonol 7-O-beta-glucosyltransferase activity Catalysis of the reaction: UDP-glucose + a flavonol = UDP + a flavonol 7-O-beta-D-glucoside.
myricetin 3-O-glucosyltransferase activity Catalysis of the reaction: myricetin + UDP-alpha-D-glucose <=> myricetin 3-O-beta-D-glucopyranoside + UDP.
quercetin 3-O-glucosyltransferase activity Catalysis of the transfer of a glucosyl group from UDP-glucose to the 3-hydroxy group of a quercetin molecule.
quercetin 7-O-glucosyltransferase activity Catalysis of the transfer of a glucosyl group from UDP-glucose to the 7-hydroxy group of a quercetin molecule.
UDP-glucosyltransferase activity Catalysis of the transfer of a glucosyl group from UDP-glucose to an acceptor molecule.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

36 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q1LZI1 UGT3A1 UDP-glucuronosyltransferase 3A1 Bos taurus (Bovine) PR
P36537 UGT2B10 UDP-glucuronosyltransferase 2B10 Homo sapiens (Human) PR
Q3SY77 UGT3A2 UDP-glucuronosyltransferase 3A2 Homo sapiens (Human) PR
O75310 UGT2B11 UDP-glucuronosyltransferase 2B11 Homo sapiens (Human) PR
P16662 UGT2B7 UDP-glucuronosyltransferase 2B7 Homo sapiens (Human) PR
Q16880 UGT8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Homo sapiens (Human) PR
Q64676 Ugt8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Mus musculus (Mouse) PR
Q8JZZ0 Ugt3a2 UDP-glucuronosyltransferase 3A2 Mus musculus (Mouse) PR
Q09426 Ugt8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase Rattus norvegicus (Rat) PR
Q22295 ugt-50 Putative UDP-glucuronosyltransferase ugt-50 Caenorhabditis elegans PR
Q9LME8 UGT85A7 UDP-glycosyltransferase 85A7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LMF1 UGT85A3 UDP-glycosyltransferase 85A3 Arabidopsis thaliana (Mouse-ear cress) PR
O48676 UGT74B1 UDP-glycosyltransferase 74B1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZVX4 UGT90A1 UDP-glycosyltransferase 90A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ98 UGT73C2 UDP-glycosyltransferase 73C2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ97 UGT73C4 UDP-glycosyltransferase 73C4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ96 UGT73C3 UDP-glycosyltransferase 73C3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ95 UGT73C6 UDP-glycosyltransferase 73C6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQ94 UGT73C5 UDP-glycosyltransferase 73C5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SJL0 UGT86A1 UDP-glycosyltransferase 86A1 Arabidopsis thaliana (Mouse-ear cress) PR
O22822 UGT74F2 UDP-glycosyltransferase 74F2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LHJ2 UGT82A1 UDP-glycosyltransferase 82A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q94AB5 UGT76E12 Flavonol 3-O-glucosyltransferase UGT76E12 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SCP5 UGT73C7 UDP-glycosyltransferase 73C7 Arabidopsis thaliana (Mouse-ear cress) PR
Q5XF20 UGT84A1 UDP-glycosyltransferase 84A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LS16 UGT76E7 UDP-glycosyltransferase 76E7 Arabidopsis thaliana (Mouse-ear cress) PR
O23382 UGT71B5 UDP-glycosyltransferase 71B5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FE68 UGT71C5 UDP-glycosyltransferase 71C5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FN28 UGT79B9 UDP-glycosyltransferase 79B9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LML7 UGT71C3 UDP-glycosyltransferase 71C3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY4 UGT71B8 UDP-glycosyltransferase 71B8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY5 UGT71B7 UDP-glycosyltransferase 71B7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY6 UGT71B6 UDP-glycosyltransferase 71B6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LSY9 UGT71B1 UDP-glycosyltransferase 71B1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LXV0 UGT92A1 UDP-glycosyltransferase 92A1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZQG4 UGT73B5 UDP-glycosyltransferase 73B5 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MVKETELIFI PVPSTGHILV HIEFAKRLIN LDHRIHTITI LNLSSPSSPH ASVFARSLIA
70 80 90 100 110 120
SQPKIRLHDL PPIQDPPPFD LYQRAPEAYI VKLIKKNTPL IKDAVSSIVA SRRGGSDSVQ
130 140 150 160 170 180
VAGLVLDLFC NSLVKDVGNE LNLPSYIYLT CNARYLGMMK YIPDRHRKIA SEFDLSSGDE
190 200 210 220 230 240
ELPVPGFINA IPTKFMPPGL FNKEAYEAYV ELAPRFADAK GILVNSFTEL EPHPFDYFSH
250 260 270 280 290 300
LEKFPPVYPV GPILSLKDRA SPNEEAVDRD QIVGWLDDQP ESSVVFLCFG SRGSVDEPQV
310 320 330 340 350 360
KEIARALELV GCRFLWSIRT SGDVETNPND VLPEGFMGRV AGRGLVCGWA PQVEVLAHKA
370 380 390 400 410 420
IGGFVSHCGW NSTLESLWFG VPVATWPMYA EQQLNAFTLV KELGLAVDLR MDYVSSRGGL
430 440 450 460 470
VTCDEIARAV RSLMDGGDEK RKKVKEMADA ARKALMDGGS SSLATARFIA ELFEDGSSC