MARK4 microtubule affinity regulating kinase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARK4provided by HGNC
Official Full Name: microtubule affinity regulating kinase 4provided by HGNC
Primary source: HGNC:HGNC:13538
See related: Ensembl:ENSG00000007047 MIM:606495; AllianceGenome:HGNC:13538
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: MARK4L; MARK4S; MARKL1; PAR-1D; MARKL1L
Summary: This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression: Broad expression in testis (RPKM 14.0), brain (RPKM 8.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45251271..45305284)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48077944..48131959)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45754529..45808542)

Chromosome 19 - NC_000019.10 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?

Interaction of Sp1 and Setd8 promotes vascular smooth muscle cells apoptosis by activating Mark4 in vascular calcification.
Title: Interaction of Sp1 and Setd8 promotes vascular smooth muscle cells apoptosis by activating Mark4 in vascular calcification.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
Title: Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
MARK2/4 promotes Warburg effect and cell growth in non-small cell lung carcinoma through the AMPKalpha1/mTOR/HIF-1alpha signaling pathway.
Title: MARK2/4 promotes Warburg effect and cell growth in non-small cell lung carcinoma through the AMPKα1/mTOR/HIF-1α signaling pathway.
Myricetin inhibits breast and lung cancer cells proliferation via inhibiting MARK4.
Title: Myricetin inhibits breast and lung cancer cells proliferation via inhibiting MARK4.
Structure and dynamics of inactive and active MARK4: conformational switching through the activation process.
Title: Structure and dynamics of inactive and active MARK4: conformational switching through the activation process.
Impact of glioblastoma multiforme associated mutations on the structure and function of MAP/microtubule affinity regulating kinase 4.
Title: Impact of glioblastoma multiforme associated mutations on the structure and function of MAP/microtubule affinity regulating kinase 4.
Structural and biochemical investigation of MARK4 inhibitory potential of cholic acid: Towards therapeutic implications in neurodegenerative diseases.
Title: Structural and biochemical investigation of MARK4 inhibitory potential of cholic acid: Towards therapeutic implications in neurodegenerative diseases.
Microtubule affinity-regulating kinase 4 with an Alzheimer's disease-related mutation promotes tau accumulation and exacerbates neurodegeneration.
Title: Microtubule affinity-regulating kinase 4 with an Alzheimer's disease-related mutation promotes tau accumulation and exacerbates neurodegeneration.
Reduced expression of MARK4 protein in ovulatory polycystic ovarian syndrome increases the risk of hyperlipidemia, hyperandrogenism and metabolic syndrome.
Title: Differential Expression of MARK4 Protein and Related Perturbations in Females with Ovulatory PCOS.
MARK4-dependent NLRP3 inflammasome activation in the hematopoietic cells regulates the development of atherosclerosis.
Title: MARK4 (Microtubule Affinity-Regulating Kinase 4)-Dependent Inflammasome Activation Promotes Atherosclerosis-Brief Report.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S836 (e-PCR)
- UniSTS:65304

STS-H97748 (e-PCR)
- UniSTS:75808

D19S1105 (e-PCR)
- UniSTS:17708

D8S2279 (e-PCR)
- UniSTS:473907

RH45702 (e-PCR)
- UniSTS:14198

MARK4__7374 (e-PCR)
- UniSTS:466297

G20412 (e-PCR)
- UniSTS:44938

A005Q13 (e-PCR)
- UniSTS:44939

RH46237 (e-PCR)
- UniSTS:12940

D11S3114 (e-PCR)
- UniSTS:152207

D19S1005 (e-PCR)
- UniSTS:28374

SGC30757 (e-PCR)
- UniSTS:52733

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info
enables cytoskeletal anchor activity	IDA Inferred from Direct Assay more info	PubMed
enables gamma-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule 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
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	IDA Inferred from Direct Assay more info	PubMed
enables tau-protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tau-protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cilium organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule bundle formation	IEP Inferred from Expression Pattern more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of programmed cell death	NAS Non-traceable Author Statement more info
involved_in positive regulation of protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IMP Inferred from Mutant Phenotype more info	PubMed
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 cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-tubulin complex	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MAP/microtubule affinity-regulating kinase 4

Names: MAP/microtubule affinity-regulating kinase like 1; MARK4 serine/threonine protein kinase; epididymis secretory sperm binding protein

NP_001186796.1

EC 2.7.11.1

NP_113605.2

EC 2.7.11.1

XP_006723370.1

EC 2.7.11.1

XP_054177554.1

EC 2.7.11.1

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_001199867.2 → NP_001186796.1 MAP/microtubule affinity-regulating kinase 4 isoform 1

See identical proteins and their annotated locations for NP_001186796.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC005581, AC005781, AC006126

Consensus CDS

CCDS56097.1

UniProtKB/Swiss-Prot

Q8NG37, Q96JG7, Q96L34, Q96SQ2, Q9BYD8

Related

ENSP00000262891.3, ENST00000262891.9

Conserved Domains (4) summary

cd12197
Location:654 → 752

MARK4_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinase 4

smart00220
Location:59 → 310

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14407
Location:328 → 370

UBA_MARK3_4; UBA domain found in MAP/microtubule affinity-regulating kinase MARK3, MARK4, and similar proteins

cd14072
Location:58 → 310

STKc_MARK; Catalytic domain of the Serine/Threonine Kinases, MAP/microtubule affinity-regulating kinases
NM_031417.4 → NP_113605.2 MAP/microtubule affinity-regulating kinase 4 isoform 2

See identical proteins and their annotated locations for NP_113605.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC005581, AC005781, AC006126

Consensus CDS

CCDS12658.1

UniProtKB/Swiss-Prot

Q96L34

Related

ENSP00000300843.3, ENST00000300843.8

Conserved Domains (3) summary

smart00220
Location:59 → 310

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14407
Location:328 → 370

UBA_MARK3_4; UBA domain found in MAP/microtubule affinity-regulating kinase MARK3, MARK4, and similar proteins

cd14072
Location:58 → 310

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45251271..45305284

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723307.5 → XP_006723370.1 MAP/microtubule affinity-regulating kinase 4 isoform X1

Conserved Domains (4) summary

cd12197
Location:587 → 685

MARK4_C; C-terminal, kinase associated domain 1 (KA1), a phospholipid binding domain, of microtubule affinity-regulating kinase 4

smart00220
Location:12 → 243

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14407
Location:261 → 303

UBA_MARK3_4; UBA domain found in MAP/microtubule affinity-regulating kinase MARK3, MARK4, and similar proteins

cl21453
Location:18 → 243

PKc_like; Protein Kinases, catalytic domain