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 O64564

Entry ID Method Resolution Chain Position Source
AF-O64564-F1 Predicted AlphaFoldDB

25 variants for O64564

Variant ID(s) Position Change Description Diseaes Association Provenance
ENSVATH05532857 3 M>I No 1000Genomes
ENSVATH01844021 9 R>S No 1000Genomes
ENSVATH05532856 10 R>W No 1000Genomes
ENSVATH05532855 11 R>G No 1000Genomes
ENSVATH01844020 35 A>S No 1000Genomes
ENSVATH14520212 41 H>R No 1000Genomes
ENSVATH13279226 43 P>L No 1000Genomes
ENSVATH01844018 48 E>D No 1000Genomes
ENSVATH01844017 52 Q>P No 1000Genomes
tmp_2_8370223_G_C 53 T>S No 1000Genomes
ENSVATH13279224 57 T>S No 1000Genomes
ENSVATH05532852 68 P>S No 1000Genomes
ENSVATH05532850 75 A>T No 1000Genomes
ENSVATH00238514 75 A>V No 1000Genomes
ENSVATH00238513 87 A>V No 1000Genomes
ENSVATH05532849 88 F>I No 1000Genomes
ENSVATH13279223 91 E>D No 1000Genomes
ENSVATH13279222 98 C>* No 1000Genomes
ENSVATH01844014 119 V>I No 1000Genomes
ENSVATH00238509 121 A>V No 1000Genomes
ENSVATH00238508 133 E>A No 1000Genomes
ENSVATH14520209 136 A>G No 1000Genomes
ENSVATH05532847 154 V>I No 1000Genomes
ENSVATH13279220 159 G>S No 1000Genomes
tmp_2_8369903_C_T 160 D>N No 1000Genomes

1 associated diseases with O64564

[MIM: 618752]: Neutropenia, severe congenital 8, autosomal dominant (SCN8)

A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:28972538, ECO:0000269|PubMed:29914977, ECO:0000269|PubMed:34020957}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for O64564

Type Name Position InterPro Accession
conserved_site Serpin, conserved site 435 - 445 IPR023795
domain Serpin domain 87 - 462 IPR023796
domain Antithrombin-III, serpin domain 71 - 464 IPR033829

Functions

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

1 GO annotations of cellular component

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

2 GO annotations of molecular function

Name Definition
protein self-association Binding to a domain within the same polypeptide.
unfolded protein binding Binding to an unfolded protein.

6 GO annotations of biological process

Name Definition
protein complex oligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
response to heat 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.
response to hydrogen peroxide 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 hydrogen peroxide (H2O2) stimulus.
response to oxidative stress 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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
response to salt stress 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 indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.

16 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P02511 CRYAB Alpha-crystallin B chain Homo sapiens (Human) PR
Q9UJY1 HSPB8 Heat shock protein beta-8 Homo sapiens (Human) PR
Q943E7 HSP16.9C 16.9 kDa class I heat shock protein 3 Oryza sativa subsp japonica (Rice) PR
P27777 HSP16.9A 16.9 kDa class I heat shock protein 1 Oryza sativa subsp japonica (Rice) PR
Q943E6 HSP16.9B 16.9 kDa class I heat shock protein 2 Oryza sativa subsp japonica (Rice) PR
Q6K7E9 HSP18.6 18.6 kDa class III heat shock protein Oryza sativa subsp japonica (Rice) PR
Q84Q77 HSP17.9A 17.9 kDa class I heat shock protein Oryza sativa subsp japonica (Rice) PR
P31673 HSP17.4 17.4 kDa class I heat shock protein Oryza sativa subsp japonica (Rice) PR
Q84Q72 HSP18.1 18.1 kDa class I heat shock protein Oryza sativa subsp japonica (Rice) PR
Q84J50 HSP17.7 17.7 kDa class I heat shock protein Oryza sativa subsp japonica (Rice) PR
P30236 HSP22.0 22.0 kDa class IV heat shock protein Glycine max (Soybean) (Glycine hispida) PR
O49710 HSP15.4 15.4 kDa class V heat shock protein Arabidopsis thaliana (Mouse-ear cress) PR
P19037 HSP18.1 18.1 kDa class I heat shock protein Arabidopsis thaliana (Mouse-ear cress) PR
Q38806 HSP22.0 22.0 kDa heat shock protein Arabidopsis thaliana (Mouse-ear cress) PR
Q9XIE3 HSP17.6A 17.6 kDa class I heat shock protein 1 Arabidopsis thaliana (Mouse-ear cress) PR
P30221 17.8 kDa class I heat shock protein Solanum lycopersicum (Tomato) (Lycopersicon esculentum) PR
10 20 30 40 50 60
MSMIPISNRR RLSPGDRIWE PFELMNTFLD FPSPALFLSH HFPSLSREIF PQTSSSTVNT
70 80 90 100 110 120
QLNWTETPTA HVFKAYLPGV DQDEVIAFVD EEGYLQICTG DNKFMSRFKL PNNALTDQVT
130 140 150 160
AWMEDEFLVV FVEKDASSSP PQLPEIEENR NVRVVEITGD DD