VRK1

Chr 14q32.2

VRK serine/threonine kinase 1

MANE:: ENST00000216639.8

OMIM: 602168 ↗NCBI: 7443 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

VRK1 · Q99986

v62025-08-01

Predicted Aligned Error matrix for VRK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.0/ 100

Confident

396 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

pontocerebellar hypoplasia type 1A
0.76
pontocerebellar hypoplasia type 1
0.74
distal hereditary motor neuropathy
0.60
autosomal recessive non-syndromic intellectual disability
0.56
pontocerebellar hypoplasia
0.56
neuronopathy, distal hereditary motor, autosomal recessive 10
0.55
neurodegenerative disease
0.54
hereditary disease
0.52
spinal muscular atrophy
0.46
microcephaly-complex motor and sensory axonal neuropathy syndrome
0.45

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase VRK1

Serine/threonine kinase involved in the regulation of key cellular processes including the cell cycle, nuclear condensation, transcription regulation, and DNA damage response (PubMed:14645249, PubMed:18617507, PubMed:19103756, PubMed:33076429). Controls chromatin organization and remodeling by mediating phosphorylation of histone H3 on 'Thr-4' and histone H2AX (H2aXT4ph) (PubMed:31527692, PubMed:37179361). It also phosphorylates KAT5 in response to DNA damage, promoting KAT5 association with chromatin and histone acetyltransferase activity (PubMed:33076429). Is involved in the regulation of cell cycle progression of neural progenitors, and is required for proper cortical neuronal migration (By similarity). Is involved in neurite elongation and branching in motor neurons, and has an essential role in Cajal bodies assembly, acting through COIL phosphorylation and the control of coilin degradation (PubMed:21920476, PubMed:31090908, PubMed:31527692). Involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, it is required to induce Golgi fragmentation (PubMed:19103756). Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm (PubMed:16495336). Phosphorylates TP53BP1 and p53/TP53 on 'Thr-18', preventing the interaction between p53/TP53 and MDM2 (PubMed:10951572, PubMed:31527692). Phosphorylates ATF2 which activates its transcriptional activity (PubMed:15105425). Phosphorylates JUN (PubMed:31527692)