MARK1 MAP/microtubule affinity-regulating kinase 1 [Homo sapiens] - Gene

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Summary

Official Symbol: MARK1provided by HGNC
Official Full Name: MAP/microtubule affinity-regulating kinase 1provided by HGNC
Primary source: HGNC:6896
See related: Ensembl:ENSG00000116141; HPRD:07353; MIM:606511; Vega:OTTHUMG00000037351
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MARK; Par1c; Par-1c; KIAA1477; MGC126512; MGC126513

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Genomic context

Location :: 1q41

Sequence :: Chromosome: 1; NC_000001.10 (220701568..220837799)

See MARK1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
In the Australian GWAS, the SNP rs7530302 near MARK1 on chromosome 1 (p=1.90 x 10(-9) achieved genomewide significance for comorbid AD/ND.
Title: A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.
Data show that protein kinases of the MARK family phosphorylate tau protein in its repeat domain and thereby regulate its affinity for microtubules and affect the aggregation of tau into Alzheimer paired helical filaments.
Title: Structure and regulation of MARK, a kinase involved in abnormal phosphorylation of Tau protein.
MARK1 was overexpressed in a prefrontal region in the brains of patients with Autism spectrum disorders.
Title: Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.
Observational study of gene-disease association. (HuGE Navigator)
Title: Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.
analysis of variations in the catalytic and ubiquitin-associated domains of microtubule-associated protein/microtubule affinity regulating kinase (MARK) 1 and MARK2
Title: Structural variations in the catalytic and ubiquitin-associated domains of microtubule-associated protein/microtubule affinity regulating kinase (MARK) 1 and MARK2.

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
Q9P0L2	P11137	MAP2	HPRD	PubMed
Q9P0L2	P27816	MAP4	HPRD	PubMed
Q9P0L2	P10636	MAPT	HPRD	PubMed
Q9P0L2	Q15831	STK11	HPRD	PubMed
Q9P0L2	Q7L7X3	TAOK1	HPRD	PubMed
BioGRID:110309	BioGRID:108326	MARK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110309	BioGRID:111549	PRKAA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110309	BioGRID:109072	SFN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110309	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex
BioGRID:110309	BioGRID:117950	USP21	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110309	BioGRID:113365	YWHAH	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110309	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
lipid binding	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
phosphatidic acid binding	IDA Inferred from Direct Assay more info
phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info
phosphatidylserine binding	IDA Inferred from Direct Assay more info
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
tau-protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
Wnt receptor signaling pathway	IEA Inferred from Electronic Annotation more info
cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
intracellular protein kinase cascade	IDA Inferred from Direct Assay more info	PubMed
microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
neuron migration	ISS Inferred from Sequence or Structural Similarity more info
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
microtubule cytoskeleton	TAS Traceable Author Statement more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info

General protein information

Preferred Names: serine/threonine-protein kinase MARK1

Names: serine/threonine-protein kinase MARK1; PAR1 homolog c

NP_061120.3

EC 2.7.11.1

EC 2.7.11.26

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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.

mRNA and Protein(s)

NM_018650.3 → NP_061120.3 serine/threonine-protein kinase MARK1

Status: VALIDATED

Source sequence(s)

AB040910, AF154845, CA412112, DB308514

Consensus CDS

CCDS31029.2

UniProtKB/Swiss-Prot

Q9P0L2

Related

ENSP00000355884, OTTHUMP00000035458, ENST00000366917, OTTHUMT00000090899

Conserved Domains (4) summary

cd00194
Location:332 – 369
Blast Score: 103

UBA; Ubiquitin Associated domain. The UBA domain is a commonly occurring sequence motif in some members of the ubiquitination pathway, UV excision repair proteins, and certain protein kinases. Although its specific role is so far unknown, it has been ...

cd05123
Location:66 – 311
Blast Score: 672

STKc_AGC; Catalytic domain of AGC family Protein Serine/Threonine Kinases

pfam02149
Location:750 – 795
Blast Score: 182

KA1; Kinase associated domain 1

smart00220
Location:60 – 311
Blast Score: 868

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_000001.10 Reference GRCh37.p5 Primary Assembly

Range

220701568..220837799

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

191375808..191512424

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC096640.2 (69509..167345)	None
genomic	AL592406.4	CAH72462.1
		CAH72463.1
genomic	CH471100.2	EAW93298.1
		EAW93299.1
		EAW93300.1
		EAW93301.1
		EAW93302.1
mRNA	AB040910.1	BAA96001.1
mRNA	AF154845.1	AAF72103.1
mRNA	AK027493.1	BAB55152.1
mRNA	AK098103.1	None
mRNA	AK295506.1	BAG58425.1
mRNA	AK314614.1	None
mRNA	AL512724.1	CAC21661.1
mRNA	BC068608.1	None
mRNA	BC113869.1	AAI13870.1
mRNA	BC114478.1	AAI14479.1
mRNA	CA412112.1	None
mRNA	DB308514.1	None