MINK1 misshapen like kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MINK1provided by HGNC
Official Full Name: misshapen like kinase 1provided by HGNC
Primary source: HGNC:HGNC:17565
See related: Ensembl:ENSG00000141503 MIM:609426; AllianceGenome:HGNC:17565
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B55; ZC3; MINK; YSK2; MAP4K6; MEKKK 6
Summary: This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in skin (RPKM 48.7), brain (RPKM 31.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4833340..4898061)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4722898..4788313)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4736635..4801356)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MINK1 deficiency stimulates nucleus pulposus cell pyroptosis and exacerbates intervertebral disc degeneration.
Title: MINK1 deficiency stimulates nucleus pulposus cell pyroptosis and exacerbates intervertebral disc degeneration.
The serine/threonine kinase MINK1 directly regulates the function of promigratory proteins.
Title: The serine/threonine kinase MINK1 directly regulates the function of promigratory proteins.
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Title: Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
LncRNA SNHG14 contributes to proinflammatory cytokine production in rheumatoid arthritis via the regulation of the miR-17-5p/MINK1-JNK pathway.
Title: LncRNA SNHG14 contributes to proinflammatory cytokine production in rheumatoid arthritis via the regulation of the miR-17-5p/MINK1-JNK pathway.
Results find MINK1 interacting with full-length and truncated APC. Its is negatively regulated by APC independently of b-catenin. MINK1 localizes to cell-cell junctions and enhances cell adhesion and proliferation.
Title: Identification of Endogenous Adenomatous Polyposis Coli Interaction Partners and β-Catenin-Independent Targets by Proteomics.
MINK plays a functional role in the IRES-mediated translation of EV71 viral RNA and may provide a potential target for the development of specific antiviral strategies against EV71 infection
Title: The role of Misshapen NCK-related kinase (MINK), a novel Ste20 family kinase, in the IRES-mediated protein translation of human enterovirus 71.
Misshapen-like kinase 1 (MINK1) is a novel component of striatin-interacting phosphatase and kinase (STRIPAK) and is required for the completion of cytokinesis.
Title: Misshapen-like kinase 1 (MINK1) is a novel component of striatin-interacting phosphatase and kinase (STRIPAK) and is required for the completion of cytokinesis.
MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2.
Title: Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation.
MINK interaction with Rap2 plays a critical role in maintaining the morphological integrity of dendrites and synaptic transmission.
Title: MINK and TNIK differentially act on Rap2-mediated signal transduction to regulate neuronal structure and AMPA receptor function.
Observational study of gene-disease association. (HuGE Navigator)
Title: Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1651E (e-PCR)
- UniSTS:147330

D17S559 (e-PCR)
- UniSTS:150418

G32837 (e-PCR)
- UniSTS:117416

WI-19144 (e-PCR)
- UniSTS:58046

D17S1448E (e-PCR)
- UniSTS:150487

RH76075 (e-PCR)
- UniSTS:83674

MARC_1869-1870:991931535:1 (e-PCR)
- UniSTS:230877

G09516 (e-PCR)
- UniSTS:30707

A009U14 (e-PCR)
- UniSTS:29947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in JNK cascade	TAS Traceable Author Statement more info	PubMed
involved_in MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of p38MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of AMPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: misshapen-like kinase 1

Names: GCK family kinase MINK; MAPK/ERK kinase kinase kinase 6; MEK kinase kinase 6; misshapen/NIK-related kinase; mitogen-activated protein kinase kinase kinase kinase 6

NP_001020108.1

EC 2.7.11.1

NP_001308165.1

EC 2.7.11.1

NP_056531.1

EC 2.7.11.1

NP_722549.2

EC 2.7.11.1

NP_733763.1

EC 2.7.11.1

XP_006721594.1

EC 2.7.11.1

XP_006721595.1

EC 2.7.11.1

XP_006721599.1

EC 2.7.11.1

XP_011522208.1

EC 2.7.11.1

XP_016880193.1

EC 2.7.11.1

XP_016880194.1

EC 2.7.11.1

XP_016880195.1

EC 2.7.11.1

XP_016880196.1

EC 2.7.11.1

XP_016880197.1

EC 2.7.11.1

XP_047292121.1

EC 2.7.11.1

XP_047292122.1

EC 2.7.11.1

XP_047292123.1

EC 2.7.11.1

XP_047292124.1

EC 2.7.11.1

XP_047292125.1

EC 2.7.11.1

XP_047292126.1

EC 2.7.11.1

XP_047292127.1

EC 2.7.11.1

XP_047292128.1

EC 2.7.11.1

XP_047292129.1

EC 2.7.11.1

XP_047292130.1

EC 2.7.11.1

XP_047292131.1

EC 2.7.11.1

XP_047292132.1

EC 2.7.11.1

XP_047292133.1

EC 2.7.11.1

XP_047292134.1

EC 2.7.11.1

XP_047292135.1

EC 2.7.11.1

XP_054172280.1

EC 2.7.11.1

XP_054172281.1

EC 2.7.11.1

XP_054172282.1

EC 2.7.11.1

XP_054172283.1

EC 2.7.11.1

XP_054172284.1

EC 2.7.11.1

XP_054172285.1

EC 2.7.11.1

XP_054172286.1

EC 2.7.11.1

XP_054172287.1

EC 2.7.11.1

XP_054172288.1

EC 2.7.11.1

XP_054172289.1

EC 2.7.11.1

XP_054172290.1

EC 2.7.11.1

XP_054172291.1

EC 2.7.11.1

XP_054172292.1

EC 2.7.11.1

XP_054172293.1

EC 2.7.11.1

XP_054172294.1

EC 2.7.11.1

XP_054172295.1

EC 2.7.11.1

XP_054172296.1

EC 2.7.11.1

XP_054172297.1

EC 2.7.11.1

XP_054172298.1

EC 2.7.11.1

XP_054172299.1

EC 2.7.11.1

XP_054172300.1

EC 2.7.11.1

XP_054172301.1

EC 2.7.11.1

XP_054172302.1

EC 2.7.11.1

XP_054172303.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028005.1 RefSeqGene

Range

5001..69722

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001024937.4 → NP_001020108.1 misshapen-like kinase 1 isoform 4

See identical proteins and their annotated locations for NP_001020108.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon and contains another alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini and is longer compared to isoform 1.

Source sequence(s)

AB041926, AL157418, AY775058, DA653105

Consensus CDS

CCDS45590.1

UniProtKB/Swiss-Prot

Q8N4C8

Related

ENSP00000406487.3, ENST00000453408.7

Conserved Domains (3) summary

smart00036
Location:994 → 1292

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
NM_001321236.2 → NP_001308165.1 misshapen-like kinase 1 isoform 5

Status: REVIEWED

Source sequence(s)

AB041926, AL157418, BC094686, DA653105

UniProtKB/Swiss-Prot

Q8N4C8

Conserved Domains (3) summary

smart00036
Location:922 → 1220

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:11 → 234

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl21453
Location:1 → 234

PKc_like; Protein Kinases, catalytic domain
NM_015716.5 → NP_056531.1 misshapen-like kinase 1 isoform 1

See identical proteins and their annotated locations for NP_056531.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).

Source sequence(s)

AB035698, AB041926, AL157418, DA653105

UniProtKB/Swiss-Prot

Q8N4C8

Conserved Domains (3) summary

smart00036
Location:977 → 1275

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
NM_153827.5 → NP_722549.2 misshapen-like kinase 1 isoform 3

See identical proteins and their annotated locations for NP_722549.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an additional in-frame exon, compared to variant 1, resulting in the longest isoform (3) which has a unique internal segment, compared to isoform 1.

Source sequence(s)

AB035698, AB041926, AL157418, BC034673, DA653105

Consensus CDS

CCDS45588.1

UniProtKB/Swiss-Prot

D3DTK3, D3DTK4, Q5U8Z0, Q8N4C8, Q9P1X1, Q9P2R8

Related

ENSP00000347427.6, ENST00000355280.11

Conserved Domains (3) summary

smart00036
Location:1014 → 1312

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
NM_170663.5 → NP_733763.1 misshapen-like kinase 1 isoform 2

See identical proteins and their annotated locations for NP_733763.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an additional in-frame exon, compared to variant 1, resulting in a longer isoform (2) that has a unique internal segment, compared to isoform 1.

Source sequence(s)

AB041926, AL157418, DA653105

Consensus CDS

CCDS45589.1

UniProtKB/Swiss-Prot

Q8N4C8

Related

ENSP00000269296.7, ENST00000347992.11

Conserved Domains (3) summary

smart00036
Location:985 → 1283

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

4833340..4898061

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721531.2 → XP_006721594.1 misshapen-like kinase 1 isoform X1

Conserved Domains (3) summary

smart00036
Location:1043 → 1341

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
XM_006721532.2 → XP_006721595.1 misshapen-like kinase 1 isoform X2

Conserved Domains (3) summary

smart00036
Location:1042 → 1340

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
XM_006721536.2 → XP_006721599.1 misshapen-like kinase 1 isoform X11

Conserved Domains (3) summary

smart00036
Location:1006 → 1304

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
XM_017024706.1 → XP_016880195.1 misshapen-like kinase 1 isoform X12
XM_017024705.1 → XP_016880194.1 misshapen-like kinase 1 isoform X5
XM_047436166.1 → XP_047292122.1 misshapen-like kinase 1 isoform X6
XM_047436168.1 → XP_047292124.1 misshapen-like kinase 1 isoform X8
XM_047436173.1 → XP_047292129.1 misshapen-like kinase 1 isoform X17
XM_047436170.1 → XP_047292126.1 misshapen-like kinase 1 isoform X13
XM_047436176.1 → XP_047292132.1 misshapen-like kinase 1 isoform X21
XM_047436177.1 → XP_047292133.1 misshapen-like kinase 1 isoform X22
XM_017024704.1 → XP_016880193.1 misshapen-like kinase 1 isoform X3
XM_047436165.1 → XP_047292121.1 misshapen-like kinase 1 isoform X4
XM_047436167.1 → XP_047292123.1 misshapen-like kinase 1 isoform X7
XM_011523906.1 → XP_011522208.1 misshapen-like kinase 1 isoform X9

Conserved Domains (3) summary

smart00036
Location:1011 → 1309

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06636
Location:8 → 289

STKc_MAP4K4_6_N; N-terminal Catalytic domain of the Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6
XM_047436169.1 → XP_047292125.1 misshapen-like kinase 1 isoform X10
XM_047436174.1 → XP_047292130.1 misshapen-like kinase 1 isoform X18
XM_047436175.1 → XP_047292131.1 misshapen-like kinase 1 isoform X19
XM_047436171.1 → XP_047292127.1 misshapen-like kinase 1 isoform X14
XM_047436172.1 → XP_047292128.1 misshapen-like kinase 1 isoform X15
XM_047436178.1 → XP_047292134.1 misshapen-like kinase 1 isoform X23

Related

ENST00000572330.5
XM_047436179.1 → XP_047292135.1 misshapen-like kinase 1 isoform X24
XM_017024708.2 → XP_016880197.1 misshapen-like kinase 1 isoform X20
XM_017024707.3 → XP_016880196.1 misshapen-like kinase 1 isoform X16