Evidence Detail for MARK1

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Basic Information Top

Gene Symbol:	MARK1 ( KIAA1477,MARK,MGC126512,MGC126513 )
Gene Full Name:	MAP/microtubule affinity-regulating kinase 1
Band:	1q41
Quick Links	Entrez ID:4139; OMIM: 606511; Uniprot ID:MARK1_HUMAN; ENSEMBL ID: ENSG00000116141

Sequences Top

nucleotide Sequence
Protein Sequence

>MARK1|4139|nucleotide
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (0)	1 (1)	0 (0)	0 (0)	2 (2)	3 (4)	28 (7)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 2

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Maussion, 2008_1	AGRE	24 (detail)	116	- (-)			AD	- -	- -
Maussion, 2008_2	AGRE	34 (detail)	276	536 (-)			AD	- -	- -

Case Control Based Association Studies: 0

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
Maussion, 2008_1	mouse	neuroblastoma N18 cell line	-	-	-	genotype-phenotype interaction
Subjects: - Normal Controls: - Methods: N18 cell line culture, transfection and luciferase assay Evidence Details: ASD-associated SNP rs12410279 modulates the level of expression of MARK1
Maussion, 2008_2	human	frontal cortex (BA46)	-	-	AD	RNA expression
Subjects: 9 Normal Controls: 8 Methods: QRT-PCR Evidence Details: We found that MARK1 was overexpressed in the prefrontal cortex (BA46) but not in cerebellar granule cells, on postmortem brain tissues from patients.
Maussion, 2008_3	human	cerebellum (lobule 6)	-	-	AD	RNA expression
Subjects: 9 Normal Controls: 8 Methods: QRT-PCR Evidence Details: We found that MARK1 was overexpressed in the prefrontal cortex (BA46) but not in cerebellar granule cells, on postmortem brain tissues from patients.
Maussion, 2008_4	human	-	-	-	-	evolution analysis
Subjects: - Normal Controls: - Methods: evolution analysis Evidence Details: MARK1 displayed an accelerated evolution along the lineage leading to humans, suggesting possible involvement of this gene in cognition.
Maussion, 2008_5	mouse	E14 mouse telencephalic neurons	-	-	-	protein function
Subjects: - Normal Controls: - Methods: Time-lapse video microscopy Evidence Details: MARK1 encodes a kinase-regulating microtubule-dependent transport in axons and dendrites. Both overexpression and silencing of MARK1 resulted in significantly shorter dendrite length in mouse neocortical neurons and modified dendritic transport speed. As expected for a gene encoding a key polarity determinant Par-1 protein kinase, MARK1 is involved in axon-dendrite specification. Thus, MARK1 overexpression in humans may be responsible for subtle changes in dendritic functioning.
Carayol, 2011_1	human	blood			ASD	genetic score model
Subjects: 844(664 males and 179 females) Normal Controls: - Methods: TaqMan allele discrimination assays Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Hu, 2009_1	mixed	lymphoblastoid cell lines	21 (-)			autism with nonaffected sib pairs	autism	17 (-)	1.14	Up	-
Platform: TIGR 40K Human Set ProbeSet: - RefSeq_ID/ EST: R56894 GEO_ID: GSE15402 Statistic Method: PCA; SAM by MEV with FDR<0.05

Proteomics Studies:0

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs	Evidence Type	Reference
Case	Control
No matched CNVs !

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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