MARK1 microtubule affinity regulating kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARK1provided by HGNC
Official Full Name: microtubule affinity regulating kinase 1provided by HGNC
Primary source: HGNC:HGNC:6896
See related: Ensembl:ENSG00000116141 MIM:606511; AllianceGenome:HGNC:6896
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
Summary: Enables several functions, including ATP binding activity; phospholipid binding activity; and protein kinase activity. Involved in intracellular signal transduction and protein phosphorylation. Located in cytoplasm; dendrite; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 4.9), testis (RPKM 3.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q41

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (220528136..220664461)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (219767527..219904166)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (220701478..220837803)

Chromosome 1 - NC_000001.11 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
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?

Microtubule affinity regulating kinase 1 (MARK1) is a direct target of miR-23a in colorectal cancer (CRC) cells.
Title: MicroRNA-23a promotes colorectal cancer cell migration and proliferation by targeting at MARK1.
Structural basis for MARK1 kinase autoinhibition by its KA1 domain has been uncovered.
Title: Structural Basis for MARK1 Kinase Autoinhibition by Its KA1 Domain.
Low MARK1 is associated with cervical cancer.
Title: MARK1 is a Novel Target for miR-125a-5p: Implications for Cell Migration in Cervical Tumor Cells.
Molecular determinants of KA1 domain-mediated autoinhibition and phospholipid activation of MARK1 kinase have been described.
Title: Molecular determinants of KA1 domain-mediated autoinhibition and phospholipid activation of MARK1 kinase.
the positioning of MARK/Par-1 at the crosstalk of regulating cytoskeletal dynamics allows its participation in neuronal polarity decisions. [review]
Title: Mark/Par-1 marking the polarity of migrating neurons.
LKB1 acts through its substrates of the microtubule affinity-regulating kinase family to regulate the localization of the polarity determinant Scribble and the activity of the core Hippo kinases
Title: A genetic screen identifies an LKB1-MARK signalling axis controlling the Hippo-YAP pathway.
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.

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

EBI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in bipolar patients stratified by co-morbidity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of MAP/microtubule affinity-regulating kinase 1 (MARK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3598 (e-PCR)
- UniSTS:9486

AL009560 (e-PCR)
- UniSTS:71721

MARK1__7373 (e-PCR)
- UniSTS:466296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction 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 protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed
enables tau-protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tau-protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tau-protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables tau-protein kinase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of mitochondrion localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-serine phosphorylation	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: serine/threonine-protein kinase MARK1

Names: MAP/microtubule affinity-regulating kinase 1; PAR1 homolog c

NP_001273053.1

EC 2.7.11.1

EC 2.7.11.26

NP_001273055.1

EC 2.7.11.1

EC 2.7.11.26

NP_001273057.1

EC 2.7.11.1

EC 2.7.11.26

NP_001273058.1

EC 2.7.11.1

EC 2.7.11.26

NP_061120.3

EC 2.7.11.1

EC 2.7.11.26

XP_005273191.1

EC 2.7.11.1

EC 2.7.11.26

XP_006711389.1

EC 2.7.11.1

EC 2.7.11.26

XP_011507863.1

EC 2.7.11.1

EC 2.7.11.26

XP_011507864.1

EC 2.7.11.1

EC 2.7.11.26

XP_016856794.1

EC 2.7.11.1

EC 2.7.11.26

XP_024302858.1

EC 2.7.11.1

EC 2.7.11.26

XP_047276800.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192613.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192614.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192615.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192616.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192617.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192618.1

EC 2.7.11.1

EC 2.7.11.26

XP_054192619.1

EC 2.7.11.1

EC 2.7.11.26

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.

mRNA and Protein(s)

NM_001286124.2 → NP_001273053.1 serine/threonine-protein kinase MARK1 isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

AC096640, AK314614, AL592406, BC068608, CA412112

Consensus CDS

CCDS73033.1

UniProtKB/TrEMBL

A0A087X0I6, X5DNR8

Related

ENSP00000483424.1, ENST00000611084.4

Conserved Domains (4) summary

cd12196
Location:697 → 794

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:60 → 311

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:331 → 371

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cd14072
Location:59 → 311

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
NM_001286126.2 → NP_001273055.1 serine/threonine-protein kinase MARK1 isoform 3

See identical proteins and their annotated locations for NP_001273055.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon in the 3' coding region but maintains the reading frame, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC096640, AK295506, AL592406, BC068608, CA412112

Consensus CDS

CCDS73034.1

UniProtKB/TrEMBL

B4DIB3, X5DNR8

Related

ENSP00000386017.2, ENST00000402574.5

Conserved Domains (4) summary

cd12196
Location:681 → 778

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:60 → 311

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:331 → 371

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cd14072
Location:59 → 311

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
NM_001286128.2 → NP_001273057.1 serine/threonine-protein kinase MARK1 isoform 4

See identical proteins and their annotated locations for NP_001273057.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.

Source sequence(s)

AB040910, AC096640, AL592406, BC068608, CA412112

Consensus CDS

CCDS65789.1

UniProtKB/TrEMBL

A0A7I2V550

Related

ENSP00000355885.4, ENST00000366918.8

Conserved Domains (4) summary

cd12196
Location:659 → 756

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:60 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:309 → 349

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cl21453
Location:59 → 289

PKc_like; Protein Kinases, catalytic domain
NM_001286129.2 → NP_001273058.1 serine/threonine-protein kinase MARK1 isoform 5

See identical proteins and their annotated locations for NP_001273058.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 5) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC096640, BC068608

UniProtKB/TrEMBL

A0A7I2V4P8

Conserved Domains (1) summary

cl21453
Location:59 → 105

PKc_like; Protein Kinases, catalytic domain
NM_018650.5 → NP_061120.3 serine/threonine-protein kinase MARK1 isoform 2

See identical proteins and their annotated locations for NP_061120.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC096640, AL592406, BC068608, BC113869, CA412112

Consensus CDS

CCDS31029.2

UniProtKB/Swiss-Prot

D3DTB0, D3DTB1, Q2HIY1, Q5VTF9, Q5VTG0, Q96SW9, Q9P0L2, Q9P251

UniProtKB/TrEMBL

X5DNR8

Related

ENSP00000355884.5, ENST00000366917.6

Conserved Domains (4) summary

cd12196
Location:696 → 793

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:60 → 311

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:331 → 371

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cd14072
Location:59 → 311

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

220528136..220664461

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001305.3 → XP_016856794.1 serine/threonine-protein kinase MARK1 isoform X5

UniProtKB/TrEMBL

A0A7I2YQC1

Related

ENSP00000503257.1, ENST00000678435.1

Conserved Domains (4) summary

cd12196
Location:587 → 684

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:1 → 201

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:221 → 261

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cl21453
Location:1 → 201

PKc_like; Protein Kinases, catalytic domain
XM_005273134.6 → XP_005273191.1 serine/threonine-protein kinase MARK1 isoform X3

See identical proteins and their annotated locations for XP_005273191.1

UniProtKB/TrEMBL

X5D2M4, X5DNR8

Conserved Domains (4) summary

cd12196
Location:682 → 779

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:60 → 311

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:331 → 371

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cd14072
Location:59 → 311

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
XM_024447090.2 → XP_024302858.1 serine/threonine-protein kinase MARK1 isoform X6

Conserved Domains (1) summary

cd14072
Location:59 → 303

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
XM_011509561.4 → XP_011507863.1 serine/threonine-protein kinase MARK1 isoform X1

UniProtKB/TrEMBL

X5DNR8

Conserved Domains (4) summary

cd12196
Location:689 → 786

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:52 → 303

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:323 → 363

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cd14072
Location:51 → 303

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
XM_047420844.1 → XP_047276800.1 serine/threonine-protein kinase MARK1 isoform X2
XM_006711326.5 → XP_006711389.1 serine/threonine-protein kinase MARK1 isoform X4

UniProtKB/TrEMBL

A0A7I2YQC1

Conserved Domains (4) summary

cd12196
Location:609 → 706

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:15 → 223

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:243 → 283

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cl21453
Location:10 → 223

PKc_like; Protein Kinases, catalytic domain
XM_011509562.4 → XP_011507864.1 serine/threonine-protein kinase MARK1 isoform X5

UniProtKB/TrEMBL

A0A7I2YQC1

Conserved Domains (4) summary

cd12196
Location:587 → 684

MARK1-3_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinases 1-3

smart00220
Location:1 → 201

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14405
Location:221 → 261

UBA_MARK1; UBA domain found in serine/threonine-protein kinase MARK1 and similar proteins

cl21453
Location:1 → 201

PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

219767527..219904166

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336642.1 → XP_054192617.1 serine/threonine-protein kinase MARK1 isoform X5
XM_054336640.1 → XP_054192615.1 serine/threonine-protein kinase MARK1 isoform X3

UniProtKB/TrEMBL

X5D2M4
XM_054336644.1 → XP_054192619.1 serine/threonine-protein kinase MARK1 isoform X6
XM_054336638.1 → XP_054192613.1 serine/threonine-protein kinase MARK1 isoform X1
XM_054336639.1 → XP_054192614.1 serine/threonine-protein kinase MARK1 isoform X2
XM_054336641.1 → XP_054192616.1 serine/threonine-protein kinase MARK1 isoform X4
XM_054336643.1 → XP_054192618.1 serine/threonine-protein kinase MARK1 isoform X5