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 Q3E9Z9

Entry ID Method Resolution Chain Position Source
AF-Q3E9Z9-F1 Predicted AlphaFoldDB

40 variants for Q3E9Z9

Variant ID(s) Position Change Description Diseaes Association Provenance
ENSVATH11933486 2 S>T No 1000Genomes
tmp_4_9793244_G_A 6 H>Y No 1000Genomes
ENSVATH11933485 12 M>I No 1000Genomes
ENSVATH06704921 21 W>* No 1000Genomes
tmp_4_9793192_A_G 23 V>A No 1000Genomes
ENSVATH06704920 25 E>K No 1000Genomes
tmp_4_9793142_C_A 40 V>F No 1000Genomes
ENSVATH06704919 43 E>K No 1000Genomes
ENSVATH06704917 48 V>E No 1000Genomes
ENSVATH06704917 48 V>G No 1000Genomes
ENSVATH06704918 48 V>M No 1000Genomes
ENSVATH02867140 52 F>L No 1000Genomes
ENSVATH02867139 53 K>R No 1000Genomes
ENSVATH11933453 54 V>I No 1000Genomes
ENSVATH02867138 56 H>L No 1000Genomes
ENSVATH14237934 59 T>S No 1000Genomes
ENSVATH11933452 62 S>Y No 1000Genomes
tmp_4_9793046_T_C 72 K>E No 1000Genomes
ENSVATH11933451 75 G>R No 1000Genomes
tmp_4_9793018_G_T 81 A>D No 1000Genomes
tmp_4_9793019_C_A 81 A>S No 1000Genomes
ENSVATH00517054 82 V>L No 1000Genomes
ENSVATH00517053 87 A>V No 1000Genomes
ENSVATH02867135 89 L>V No 1000Genomes
ENSVATH09586162 90 L>F No 1000Genomes
ENSVATH06704915 94 A>P No 1000Genomes
ENSVATH06704914 95 V>L No 1000Genomes
ENSVATH06704914 95 V>M No 1000Genomes
tmp_4_9792678_C_T 102 E>K No 1000Genomes
tmp_4_9792675_T_A 103 K>* No 1000Genomes
ENSVATH06704906 114 E>D No 1000Genomes
tmp_4_9792633_C_G 117 A>P No 1000Genomes
tmp_4_9792618_G_A 122 R>W No 1000Genomes
ENSVATH00517046 125 A>T No 1000Genomes
ENSVATH00517044 136 P>L No 1000Genomes
ENSVATH11933333 137 K>R No 1000Genomes
tmp_4_9792552_G_T 144 Q>K No 1000Genomes
ENSVATH02867128 147 V>A No 1000Genomes
ENSVATH02867129 147 V>I No 1000Genomes
tmp_4_9792522_GC_G 153 Y>del No 1000Genomes

1 associated diseases with Q3E9Z9

[MIM: 613728]: Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:21092923}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:21092923}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q3E9Z9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q3E9Z9

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plant-type vacuole membrane The lipid bilayer surrounding a vacuole that retains the same shape regardless of cell cycle phase. The membrane separates its contents from the cytoplasm of the cell. An example of this component is found in Arabidopsis thaliana.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name Definition
ion transmembrane transport A process in which an ion is transported across a membrane.
malate transport The directed movement of malate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O23086 ALMT10 Aluminum-activated malate transporter 10 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSNKVHVGNI EMEEGLSKTK WMVLEPSEKI KKIPKRLWSV GKEDPRRVIH AFKVGHSLTL
70 80 90 100 110 120
VSLLYFMENL FKGIGSNAIW AVMTVVAVLL EFFAVEGLTI SEKVILSMAA RGRESAAEPH
130 140 150
ERNEAGNVCH SIKFLPKSIA RAKQHHVLNQ PY