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 Q96330

Entry ID Method Resolution Chain Position Source
AF-Q96330-F1 Predicted AlphaFoldDB

14 variants for Q96330

Variant ID(s) Position Change Description Diseaes Association Provenance
tmp_5_2804074_G_T 22 E>D No 1000Genomes
ENSVATH06942291 52 D>N No 1000Genomes
ENSVATH13963754 79 T>R No 1000Genomes
ENSVATH10657275 82 I>M No 1000Genomes
ENSVATH06942294 83 R>Q No 1000Genomes
ENSVATH13963805 84 R>L No 1000Genomes
tmp_5_2804281_A_T 91 K>N No 1000Genomes
ENSVATH06942295 108 D>G No 1000Genomes
tmp_5_2804333_T_A 109 S>T No 1000Genomes
ENSVATH06942297 167 K>N No 1000Genomes
ENSVATH00612587 179 D>E No 1000Genomes
tmp_5_2805081_C_A,G 306 P>Q No 1000Genomes
tmp_5_2805081_C_A,G 306 P>R No 1000Genomes
ENSVATH06942304 317 F>Y No 1000Genomes

2 associated diseases with Q96330

[MIM: 162100]: Hereditary neuralgic amyotrophy (HNA)

Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269|PubMed:16186812, ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:18492087, ECO:0000269|PubMed:19451530}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. {ECO:0000269|PubMed:16186812, ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:18492087, ECO:0000269|PubMed:19451530}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q96330

Type Name Position InterPro Accession
domain Septin-type guanine nucleotide-binding (G) domain 295 - 571 IPR030379

Functions

Description
EC Number 1.14.11.9 With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Subcellular Localization
  • Cytoplasm
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

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

5 GO annotations of molecular function

Name Definition
dioxygenase activity Catalysis of an oxidation-reduction (redox) reaction in which both atoms of oxygen from one molecule of O2 are incorporated into the (reduced) product(s) of the reaction. The two atoms of oxygen may be distributed between two different products. [DOI:10.1016/S0040-4020(03)00944-X, GOC:bf]
flavonol synthase activity Catalysis of the reaction: a dihydroflavonol + 2-oxoglurate + O2 = a flavonol + succinate + CO2 + H2O.
L-ascorbic acid binding Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.
metal ion binding Binding to a metal ion.
naringenin 3-dioxygenase activity Catalysis of the reaction: naringenin + 2-oxoglutarate + O2 = dihydrokaempferol + succinate + CO2.

3 GO annotations of biological process

Name Definition
flavonoid biosynthetic process The chemical reactions and pathways resulting in the formation of flavonoids, a group of phenolic derivatives containing a flavan skeleton.
response to auxin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an auxin stimulus.
response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P41213 A2 Leucoanthocyanidin dioxygenase Zea mays (Maize) PR
Q8H1S4 At1g06650 1-aminocyclopropane-1-carboxylate oxidase homolog 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9C899 F6'H2 Feruloyl CoA ortho-hydroxylase 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZUN4 ACO1 1-aminocyclopropane-1-carboxylate oxidase 1 Arabidopsis thaliana (Mouse-ear cress) PR
F4KAS1 FLS4 Probable flavonol synthase 4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WPW4 At1g77330 1-aminocyclopropane-1-carboxylate oxidase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FFQ5 FLS3 Flavonol synthase 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FZ21 GA2OX6 Gibberellin 2-beta-dioxygenase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9ZTA3 AOP1 Probable 2-oxoglutarate-dependent dioxygenase AOP1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MEVERVQDIS SSSLLTEAIP LEFIRSEKEQ PAITTFRGPT PAIPVVDLSD PDEESVRRAV
70 80 90 100 110 120
VKASEEWGLF QVVNHGIPTE LIRRLQDVGR KFFELPSSEK ESVAKPEDSK DIEGYGTKLQ
130 140 150 160 170 180
KDPEGKKAWV DHLFHRIWPP SCVNYRFWPK NPPEYREVNE EYAVHVKKLS ETLLGILSDG
190 200 210 220 230 240
LGLKRDALKE GLGGEMAEYM MKINYYPPCP RPDLALGVPA HTDLSGITLL VPNEVPGLQV
250 260 270 280 290 300
FKDDHWFDAE YIPSAVIVHI GDQILRLSNG RYKNVLHRTT VDKEKTRMSW PVFLEPPREK
310 320 330
IVGPLPELTG DDNPPKFKPF AFKDYSYRKL NKLPLD