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 Q9SR59

Entry ID Method Resolution Chain Position Source
AF-Q9SR59-F1 Predicted AlphaFoldDB

38 variants for Q9SR59

Variant ID(s) Position Change Description Diseaes Association Provenance
tmp_3_3058531_T_C 28 Q>R No 1000Genomes
tmp_3_3058037_C_T 71 A>T No 1000Genomes
ENSVATH13890499 91 I>V No 1000Genomes
ENSVATH00314277 93 G>S No 1000Genomes
tmp_3_3057872_C_T 97 V>I No 1000Genomes
ENSVATH05800794 111 G>D No 1000Genomes
tmp_3_3057800_T_C 121 I>V No 1000Genomes
ENSVATH05800793 123 T>N No 1000Genomes
tmp_3_3057679_T_C 133 I>V No 1000Genomes
tmp_3_3057651_T_C 142 N>S No 1000Genomes
ENSVATH02127185 157 L>F No 1000Genomes
tmp_3_3057544_G_C 178 L>V No 1000Genomes
tmp_3_3057380_A_C 204 F>V No 1000Genomes
tmp_3_3057371_C_T 207 A>T No 1000Genomes
ENSVATH10574163 209 I>T No 1000Genomes
tmp_3_3057347_T_C 215 S>G No 1000Genomes
tmp_3_3057320_T_A 224 I>F No 1000Genomes
ENSVATH10574162 232 G>R No 1000Genomes
ENSVATH02127184 247 E>K No 1000Genomes
tmp_3_3057221_C_T 257 V>I No 1000Genomes
ENSVATH10574160 275 E>Q No 1000Genomes
ENSVATH05800789 279 G>D No 1000Genomes
tmp_3_3057055_C_T 284 D>N No 1000Genomes
ENSVATH00314271 292 P>A No 1000Genomes
ENSVATH13890498 294 V>A No 1000Genomes
tmp_3_3056984_C_T 307 M>I No 1000Genomes
ENSVATH00314270 307 M>T No 1000Genomes
ENSVATH13890497 311 T>A No 1000Genomes
tmp_3_3056953_C_G 318 D>H No 1000Genomes
ENSVATH10574157 319 N>S No 1000Genomes
ENSVATH00314269 329 K>R No 1000Genomes
ENSVATH00314266 334 G>A No 1000Genomes
tmp_3_3056823_T_C 335 E>G No 1000Genomes
tmp_3_3056801_A_T 342 D>E No 1000Genomes
ENSVATH10574124 376 P>T No 1000Genomes
tmp_3_3056590_C_T 413 A>T No 1000Genomes
ENSVATH05800780 433 A>V No 1000Genomes
ENSVATH02127182 438 S>T No 1000Genomes

1 associated diseases with Q9SR59

[MIM: 208920]: Ataxia-oculomotor apraxia syndrome (AOA)

An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. {ECO:0000269|PubMed:11586299, ECO:0000269|PubMed:11586300, ECO:0000269|PubMed:12196655, ECO:0000269|PubMed:12629250, ECO:0000269|PubMed:14506070, ECO:0000269|PubMed:15699391, ECO:0000269|PubMed:15852392, ECO:0000269|PubMed:24362567}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. {ECO:0000269|PubMed:11586299, ECO:0000269|PubMed:11586300, ECO:0000269|PubMed:12196655, ECO:0000269|PubMed:12629250, ECO:0000269|PubMed:14506070, ECO:0000269|PubMed:15699391, ECO:0000269|PubMed:15852392, ECO:0000269|PubMed:24362567}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q9SR59

Type Name Position InterPro Accession
conserved_site Ribosome maturation protein SBDS, conserved site 36 - 55 IPR018023
domain Ribosome maturation protein SDO1/SBDS, central domain 101 - 164 IPR018978
domain Ribosome maturation protein SDO1/SBDS, N-terminal 10 - 93 IPR019783
domain Ribosome maturation protein SDO1/SBDS, C-terminal domain 165 - 230 IPR046928

Functions

Description
EC Number 1.6.5.4 With a quinone or similar compound as acceptor
Subcellular Localization
  • Cytoplasm
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.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name Definition
flavin adenine dinucleotide binding Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
monodehydroascorbate reductase (NADH) activity Catalysis of the reaction: NADH + H+ + 2 monodehydroascorbate = NAD+ + 2 ascorbate.
oxidoreductase activity, acting on NAD(P)H Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.

4 GO annotations of biological process

Name Definition
regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association.
response to jasmonic acid 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 jasmonic acid stimulus.
response to symbiotic fungus 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 stimulus from a symbiotic fungus, a fungus living in close physical association with another organism.
response to water deprivation 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 water deprivation stimulus, prolonged deprivation of water.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96NN9 AIFM3 Apoptosis-inducing factor 3 Homo sapiens (Human) PR
Q3TY86 Aifm3 Apoptosis-inducing factor 3 Mus musculus (Mouse) PR
Q93WJ8 MDAR2 Monodehydroascorbate reductase 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAEEKSYKYV IIGGGVAGGY AAREFSNQGL KPGELAIISK EPVPPFERPE LTKVYIDLEV
70 80 90 100 110 120
NPTLANIYVC AGTGEAKQYP NWYKEKGIDL IVGTEIVKAD LASKTLVSDD GKIYKYQTLL
130 140 150 160 170 180
IATGSTNIRL SEIGVQEADV KNIFYLREIE DSDELALAME LYVQRGKAVI IGGGFLGLEI
190 200 210 220 230 240
SSALRANNHE VTMVFPEPWL VHRFFTAEIA SFYESYYANK GIKIIKGTVA TGFSTNSDGE
250 260 270 280 290 300
VTEVKLEDGR TLEANIVVAG VGARPATSLF KGQLEEEKGG IKTDGFFKTS VPDVYALGDV
310 320 330 340 350 360
ATFPMKMYGG TRRVEHADNA RKSAAQAVKA IKAGEEGKTI PDYDYLPYFY SRFFKLSWEF
370 380 390 400 410 420
YGENVGESVL FGDNDPKSPK PKFGTYWVKD GKVVGVFLEG GTQEEHKAIA KVARAQPSVE
430 440
SLDVLSEEGL SFATKFYSTS L