MKNK1

MAPK interacting serine/threonine kinase 1, the group of MAPK activated protein kinases

Basic information

Region (hg38): 1:46557407-46616843

Links

ENSG00000079277 ∙ NCBI:8569 ∙ OMIM:606724 ∙ HGNC:7110 ∙ Uniprot:Q9BUB5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MKNK1 gene.

• not_specified (42 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MKNK1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001135553.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	2		4
missense			41	1		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6			6
Total	0	0	49	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MKNK1	protein_coding	protein_coding	ENST00000371946	13	59426

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.05e-10	0.702	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	197	263	0.750	0.0000152	3029
Missense in Polyphen		55	78.131	0.70394		847
Synonymous	0.155	104	106	0.981	0.00000660	915
Loss of Function	1.43	18	25.9	0.696	0.00000142	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000163	0.000163
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7- methylguanosine-containing mRNA cap. {ECO:0000269|PubMed:11463832, ECO:0000269|PubMed:15350534, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9878069}.
• Pathway: HIF-1 signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);EGF-Core;Structural Pathway of Interleukin 1 (IL-1);BDNF-TrkB Signaling;MAPK Signaling Pathway;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;VEGFA-VEGFR2 Signaling Pathway;p38 MAPK Signaling Pathway;Negative regulation of FGFR2 signaling;Signaling by FGFR2;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;mtor signaling pathway;Spry regulation of FGF signaling;p38 mapk signaling pathway;regulation of eif-4e and p70s6 kinase;skeletal muscle hypertrophy is regulated via akt-mtor pathway;erk1/erk2 mapk signaling pathway;IL-7 signaling;JAK STAT pathway and regulation;IL2;EPO signaling;Signaling by Receptor Tyrosine Kinases;VEGF;Signaling mediated by p38-alpha and p38-beta;Negative regulation of FGFR1 signaling;Signaling by FGFR1 (Consensus)

Recessive Scores

• pRec: 0.144

Intolerance Scores

• loftool: 0.916
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• pHI: 0.235
• hipred: Y
• hipred_score: 0.647
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mknk1
• Phenotype: normal phenotype

Gene ontology

• Biological process: regulation of translation;protein phosphorylation;peptidyl-serine phosphorylation;intracellular signal transduction;protein autophosphorylation
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol
• Molecular function: protein serine/threonine kinase activity;calmodulin-dependent protein kinase activity;protein binding;calmodulin binding;ATP binding;calcium-dependent protein serine/threonine kinase activity;metal ion binding