MINK1 misshapen-like kinase 1 [Homo sapiens] - Gene

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Summary

Official Symbol: MINK1provided by HGNC
Official Full Name: misshapen-like kinase 1provided by HGNC
Primary source: HGNC:17565
See related: Ensembl:ENSG00000141503; HPRD:11366; MIM:609426
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; hMINK; MAP4K6; hMINKbeta; MGC21111
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. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Annotation information: Annotation category: suggests misassembly

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Genomic context

Location :: 17p13.2

Sequence :: Chromosome: 17; NC_000017.10 (4736635..4801356)

See MINK1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Analysis of the coding region of the NIK gene in progressive supranuclear palsy (PSP) patients through single strand conformation polymorphism and direct sequencing does not support a pathogenic role of the NIK gene in PSP.
Title: Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy.
results suggest that human Misshapen/NIKs-related kinase beta (hMINK beta) plays an important role in cytoskeleton reorganization, cell adhesion, and cell motility(hMINKbeta)
Title: Identification and functional characterization of a novel human misshapen/Nck interacting kinase-related kinase, hMINK beta.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8N4C8	Q8IZP0	ABI1	HPRD	PubMed
Q8N4C8	P62736	ACTA2	HPRD	PubMed
Q8N4C8	Calmodulin 3	CALM3	HPRD	PubMed
Q8N4C8	Q8WXD9	CASKIN1	HPRD	PubMed
Q8N4C8	Q92845	KIFAP3	HPRD	PubMed
Q8N4C8	P46821	MAP1B	HPRD	PubMed
Q8N4C8	P16333	NCK1	HPRD	PubMed
Q8N4C8	P07197	NEFM	HPRD	PubMed
Q8N4C8	Q99569	PKP4	HPRD	PubMed
Q8N4C8	O15020	SPTBN2	HPRD	PubMed
Q8N4C8	P68363	TUBA1B	HPRD	PubMed
Q8N4C8	P31946	YWHAB	HPRD	PubMed
Q8N4C8	P63104	YWHAZ	HPRD	PubMed
	NP_006144.1	NCK1	BIND	PubMed	An unspecified isoform of hMINK-beta interacts with Nck. This interaction was modeled on a demonstrated interaction between human hMINK-beta and Nck from an unspecified species.
BioGRID:119075	BioGRID:110770	NCK1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:119075	BioGRID:116915	NEDD4L	BioGRID	PubMed	Biochemical Activity
BioGRID:119075	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	ISS Inferred from Sequence or Structural Similarity more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	TAS Traceable Author Statement more info	PubMed
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
small GTPase regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
JNK cascade	TAS Traceable Author Statement more info	PubMed
actin cytoskeleton reorganization	IMP Inferred from Mutant Phenotype more info	PubMed
dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
intracellular protein kinase cascade	IEA Inferred from Electronic Annotation more info
intracellular protein kinase cascade	ISS Inferred from Sequence or Structural Similarity more info
multicellular organismal development	ISS Inferred from Sequence or Structural Similarity more info
negative thymic T cell selection	IEA Inferred from Electronic Annotation more info
positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
protein phosphorylation	IEA Inferred from Electronic Annotation more info
protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
protein phosphorylation	TAS Traceable Author Statement more info	PubMed
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
response to stress	IEA Inferred from Electronic Annotation more info
response to stress	ISS Inferred from Sequence or Structural Similarity more info
synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
axon	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cell projection	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
dendrite	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: misshapen-like kinase 1

Names: misshapen-like kinase 1; MEKKK 6; MEK kinase kinase 6; GCK family kinase MINK; misshapen/NIK-related kinase; MAPK/ERK kinase kinase kinase 6; serine/threonine protein kinase; mitogen-activated protein kinase kinase kinase kinase 6

NP_001020108.1

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

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NCBI Reference Sequences (RefSeq)

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_001024937.3 → NP_001020108.1 misshapen-like kinase 1 isoform 4

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, ENST00000453408

Conserved Domains (3) summary

cd06636
Location:8 – 289
Blast Score: 1528

STKc_MAP4K4_6; Catalytic domain of the Protein Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6

smart00220
Location:25 – 289
Blast Score: 707

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl02434
Location:994 – 1292
Blast Score: 781

CNH; CNH domain
NM_015716.4 → NP_056531.1 misshapen-like kinase 1 isoform 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 (4) summary

cd06636
Location:8 – 289
Blast Score: 1527

STKc_MAP4K4_6; Catalytic domain of the Protein Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6

PHA03307
Location:570 – 764
Blast Score: 94

PHA03307; transcriptional regulator ICP4; Provisional

smart00220
Location:25 – 289
Blast Score: 707

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl02434
Location:977 – 1275
Blast Score: 780

CNH; CNH domain
NM_153827.4 → NP_722549.2 misshapen-like kinase 1 isoform 3

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

Q8N4C8

Related

ENSP00000347427, ENST00000355280

Conserved Domains (4) summary

cd06636
Location:8 – 289
Blast Score: 1528

STKc_MAP4K4_6; Catalytic domain of the Protein Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6

PHA03307
Location:570 – 820
Blast Score: 96

PHA03307; transcriptional regulator ICP4; Provisional

smart00220
Location:25 – 289
Blast Score: 708

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl02434
Location:1014 – 1312
Blast Score: 781

CNH; CNH domain
NM_170663.4 → NP_733763.1 misshapen-like kinase 1 isoform 2

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, ENST00000347992

Conserved Domains (4) summary

cd06636
Location:8 – 289
Blast Score: 1527

STKc_MAP4K4_6; Catalytic domain of the Protein Serine/Threonine Kinases, Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 and 6

PHA03307
Location:570 – 764
Blast Score: 96

PHA03307; transcriptional regulator ICP4; Provisional

smart00220
Location:25 – 289
Blast Score: 707

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl02434
Location:985 – 1283
Blast Score: 780

CNH; CNH domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

4736635..4801356

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

4624721..4689491

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB070507.1	BAB97271.1
genomic	AC109333.28 (54651..113435)	None
genomic	AC233723.2 (37609..102282)	None
genomic	CH471108.2	EAW90398.1
		EAW90399.1
		EAW90400.1
		EAW90401.1
		EAW90402.1
		EAW90403.1
mRNA	AB035698.1	BAA90753.1
mRNA	AB041926.1	BAA94838.1
mRNA	AB209450.1	BAD92687.1
mRNA	AF218033.1	AAG17275.1
mRNA	AK096610.1	None
mRNA	AL157418.1	None
mRNA	AY775058.1	AAV41830.1
mRNA	BC028888.1	None
mRNA	BC034673.1	AAH34673.1
mRNA	BC094686.1	None
mRNA	BM674875.1	None
mRNA	BQ006038.1	None
mRNA	CA392419.1	None
mRNA	DA653105.1	None
other-genetic	DQ891158.2	ABM82084.1
other-genetic	DQ894339.2	ABM85265.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q59FL0	GenPept	UniProtKB/TrEMBL:Q59FL0
Q8N4C8.2	GenPept	UniProtKB/Swiss-Prot:Q8N4C8
Q8NG69	GenPept	UniProtKB/TrEMBL:Q8NG69
Q9HBM9	GenPept	UniProtKB/TrEMBL:Q9HBM9