ICK intestinal cell (MAK-like) kinase [Homo sapiens] - Gene

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Summary

Official Symbol: ICKprovided by HGNC
Official Full Name: intestinal cell (MAK-like) kinaseprovided by HGNC
Primary source: HGNC:21219
See related: Ensembl:ENSG00000112144; HPRD:09996; MIM:612325; Vega:OTTHUMG00000014870
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: ECO; MRK; LCK2; KIAA0936; MGC46090
Summary: Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6p12.1

Sequence :: Chromosome: 6; NC_000006.11 (52866098..52926600, complement)

See ICK in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 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?

Findings demonstrate an important role for ICK in proliferation and differentiation of intestinal epithelial cells.
Title: Intestinal cell kinase, a MAP kinase-related kinase, regulates proliferation and G1 cell cycle progression of intestinal epithelial cells.
ICK and FBX9 are divergently transcribed from a bidirectional promoter that is GC-rich and contains a CpG island.
Title: The promoter for intestinal cell kinase is head-to-head with F-Box 9 and contains functional sites for TCF7L2 and FOXA factors.
PP5 (protein phosphatase 5)and CCRK (cell cycle-related kinase) are yin-yang regulators of T157 phosphorylation. ICK interacts with and phosphorylates human Scythe, an essential regulator of proliferation and apoptosis during mammalian development.
Title: Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase.
ICK plays an important role in the regulation of proliferation and differentiation of intestinal epithelial cells. ICK may control G1 cell cycle progression by regulating expression of cell cycle regulators cyclin D1, c-Myc and p21Cip1.
Title: Intestinal cell kinase, a MAP kinase-related kinase, regulates proliferation and G1 cell cycle progression of intestinal epithelial cells.
ICK may play a role in the development of multiple organ systems. R272Q has been associated with endocrine-cerebro-osteodysplasia and may explain loss of function since the R272Q mutant fails to localize at the nucleus and has diminished kinase activity
Title: A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
ICK may play a role in the development of multiple organ systems. R272Q has been associated with endocrine-cerebro-osteodysplasia and may explain loss of function since the R272Q mutant fails to localize at the nucleus and has diminished kinase activity.
Title: A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
ICK is the prototype for a new group of MAPK-like kinases requiring dual phosphorylation at TDY motifs.
Title: Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphorylation and cyclin-dependent protein kinase-activating kinase.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Endocrine-cerebroosteodysplasia

MIM: 612651

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q9UPZ9	Q15797	SMAD1		HPRD	PubMed

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
cyclin-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
intracellular protein kinase cascade	IDA Inferred from Direct Assay more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	IEA Inferred from Electronic Annotation more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: serine/threonine-protein kinase ICK

Names: serine/threonine-protein kinase ICK; hICK; MAK-related kinase; laryngeal cancer kinase 2; serine/threonine protein kinase

NP_055735.1

EC 2.7.11.22

NP_057597.2

EC 2.7.11.22

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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_012159.1 RefSeqGene

Range

5001..65503

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014920.3 → NP_055735.1 serine/threonine-protein kinase ICK

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB023153, DA456873

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

Q9UPZ9

Related

ENSP00000263043, OTTHUMP00000016630, ENST00000350082, OTTHUMT00000040952

Conserved Domains (2) summary

cd07830
Location:4 – 284
Blast Score: 1500

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

smart00220
Location:4 – 284
Blast Score: 776

S_TKc; Serine/Threonine protein kinases, catalytic domain
NM_016513.4 → NP_057597.2 serine/threonine-protein kinase ICK

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional exon in the 5' UTR, as compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AB023153, AK074892, DA456873

Consensus CDS

CCDS4949.1

UniProtKB/TrEMBL

B3KQG4

UniProtKB/Swiss-Prot

Q9UPZ9

Related

ENSP00000349458, ENST00000356971

Conserved Domains (2) summary

cd07830
Location:4 – 284
Blast Score: 1500

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

smart00220
Location:4 – 284
Blast Score: 776

S_TKc; Serine/Threonine protein kinases, catalytic 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_000006.11 Reference GRCh37.p5 Primary Assembly

Range

52866098..52926600, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

52697571..52758090, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL031178.1	CAI20261.1
genomic	AL162581.11	CAI19518.1
genomic	CH471081.1	EAX04400.1
		EAX04401.1
		EAX04402.1
		EAX04403.1
		EAX04404.1
mRNA	AB023153.1	BAA76780.2
mRNA	AF152469.1	AAG43364.1
mRNA	AF225919.1	AAF37278.1
mRNA	AI699136.1	None
mRNA	AJ420557.1	None
mRNA	AK074892.1	BAG52026.1
mRNA	BC035807.1	AAH35807.1
mRNA	BC136420.1	AAI36421.1
mRNA	BC136421.1	AAI36422.1
mRNA	BC152464.1	AAI52465.1
mRNA	BX647493.1	None
mRNA	DA456873.1	None