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 Q6BMD0

Entry ID Method Resolution Chain Position Source
AF-Q6BMD0-F1 Predicted AlphaFoldDB

No variants for Q6BMD0

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q6BMD0

1 associated diseases with Q6BMD0

[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 Q6BMD0

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q6BMD0

Functions

Description
EC Number
Subcellular Localization
  • Endoplasmic reticulum membrane ; Single-pass membrane protein
  • Nucleus membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
dolichol-linked oligosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of dolichol-linked oligosaccharide, usually by a stepwise addition of glycosyl chains to endoplasmic reticulum membrane-bound dolichol-P.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MDFESQLCIK VVLLLLPFFI IGIRLLWVLP AVNSPAMGSE KEKGLSQIPS ELRGSNIMIF
70 80 90 100 110 120
LGSGGHTGEM MRILANVDLN NFNRTWVTSS GDSTSILKCK KYEDERLTSG QNKSDYLVLH
130 140 150 160 170 180
RARTVGESII SSVFSTVRSL ISTIKHLYEL PQFPSILLLN GPGTSVPLAY IIFLLKFLGL
190 200 210 220 230
CKTRIIYIES LARVKQLSVS GLLILPITDR FIVQWKQLAV KYKRAEYYGI LI