Q148J6

PR
Gene name
ARPC4
Protein name
Actin-related protein 2/3 complex subunit 4
Names
Arp2/3 complex 20 kDa subunit, p20-ARC
Species
Bos taurus (Bovine)
KEGG Pathway
bta:539459
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-73 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

25 structures for Q148J6

Entry ID Method Resolution Chain Position Source
1K8K X-ray 200 A F 1-168 PDB
1TYQ X-ray 255 A F 1-168 PDB
1U2V X-ray 255 A F 1-168 PDB
2P9I X-ray 246 A F 1-168 PDB
2P9K X-ray 259 A F 1-168 PDB
2P9L X-ray 265 A F 1-168 PDB
2P9N X-ray 285 A F 1-168 PDB
2P9P X-ray 290 A F 1-168 PDB
2P9S X-ray 268 A F 1-168 PDB
2P9U X-ray 275 A F 1-168 PDB
3DXK X-ray 270 A F 1-168 PDB
3DXM X-ray 285 A F 1-168 PDB
3RSE X-ray 265 A F 1-168 PDB
3UKR X-ray 248 A F 1-168 PDB
3UKU X-ray 275 A F 1-168 PDB
3ULE X-ray 250 A F 1-168 PDB
4JD2 X-ray 308 A F 1-168 PDB
4XEI X-ray 387 A F 1-168 PDB
4XF2 X-ray 500 A F/Y 1-168 PDB
6DEC X-ray 460 A F/N 1-168 PDB
7JPN EM 324 A F 1-168 PDB
7T5Q EM 340 A F 1-168 PDB
7TPT EM 390 A F 1-168 PDB
8TAH EM 289 A F 1-168 PDB
AF-Q148J6-F1 Predicted AlphaFoldDB

13 variants for Q148J6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs468426568 4 T>P No EVA
rs449059162 5 L>P No EVA
rs480605860 14 A>V No EVA
rs460329208 21 C>G No EVA
rs446648668 28 Q>H No EVA
rs478058537 29 V>I No EVA
rs457787268 31 E>A No EVA
rs444169694 34 N>H No EVA
rs448052040 76 V>E No EVA
rs434514946 77 K>I No EVA
rs472786169 100 N>H No EVA
rs441603806 140 E>K No EVA
rs438159084 168 F>V No EVA

1 associated diseases with Q148J6

[MIM: 601238]: Cerebellar ataxia, cayman type (ATCAY)

Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269|PubMed:14556008}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. {ECO:0000269|PubMed:14556008}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q148J6

Type Name Position InterPro Accession
repeat WD40 repeat 41 - 80 IPR001680-1
repeat WD40 repeat 85 - 124 IPR001680-2
repeat WD40 repeat 134 - 170 IPR001680-3
repeat WD40 repeat 191 - 232 IPR001680-4
repeat WD40 repeat 235 - 273 IPR001680-5
repeat WD40 repeat 312 - 356 IPR001680-6

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
Arp2/3 protein complex A stable protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5), and functions in the nucleation of branched actin filaments.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
site of double-strand break A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

1 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.

3 GO annotations of biological process

Name Definition
actin filament polymerization Assembly of actin filaments by the addition of actin monomers to a filament.
Arp2/3 complex-mediated actin nucleation The actin nucleation process in which actin monomers combine to form a new branch on the side of an existing actin filament; mediated by the Arp2/3 protein complex and its interaction with other proteins.
regulation of actin filament polymerization Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P59998 ARPC4 Actin-related protein 2/3 complex subunit 4 Homo sapiens (Human) PR
P59999 Arpc4 Actin-related protein 2/3 complex subunit 4 Mus musculus (Mouse) PR
P58798 arx-6 Probable actin-related protein 2/3 complex subunit 4 Caenorhabditis elegans PR
10 20 30 40 50 60
MTATLRPYLS AVRATLQAAL CLENFSSQVV ERHNKPEVEV RSSKELLLQP VTISRNEKEK
70 80 90 100 110 120
VLIEGSINSV RVSIAVKQAD EIEKILCHKF MRFMMMRAEN FFILRRKPVE GYDISFLITN
130 140 150 160
FHTEQMYKHK LVDFVIHFME EIDKEISEMK LSVNARARIV AEEFLKNF