MARCKSL1 MARCKS like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARCKSL1provided by HGNC
Official Full Name: MARCKS like 1provided by HGNC
Primary source: HGNC:HGNC:7142
See related: Ensembl:ENSG00000175130 MIM:602940; AllianceGenome:HGNC:7142
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: F52; MLP; MRP; MLP1; MACMARCKS
Summary: This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012]
Expression: Broad expression in ovary (RPKM 132.8), brain (RPKM 127.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (32333839..32336233, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (32191757..32194151, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (32799440..32801834, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Circulating extracellular vesicle-derived MARCKSL1 is a potential diagnostic non-invasive biomarker in metastatic colorectal cancer patients.
Title: Circulating extracellular vesicle-derived MARCKSL1 is a potential diagnostic non-invasive biomarker in metastatic colorectal cancer patients.
MARCKSL1 interacted with F-actin to promote esophageal squamous cell carcinoma mobility by modulating the formation of invadopodia.
Title: MARCKSL1 interacted with F-actin to promote esophageal squamous cell carcinoma mobility by modulating the formation of invadopodia.
IncRNA TYMSOS Promotes Epithelial-Mesenchymal Transition and Metastasis in Thyroid Carcinoma through Regulating MARCKSL1 and Activating the PI3K/Akt Signaling Pathway.
Title: IncRNA TYMSOS Promotes Epithelial-Mesenchymal Transition and Metastasis in Thyroid Carcinoma through Regulating MARCKSL1 and Activating the PI3K/Akt Signaling Pathway.
MARCKSL1-2 reverses docetaxel-resistance of lung adenocarcinoma cells by recruiting SUZ12 to suppress HDAC1 and elevate miR-200b.
Title: MARCKSL1-2 reverses docetaxel-resistance of lung adenocarcinoma cells by recruiting SUZ12 to suppress HDAC1 and elevate miR-200b.
METTL14-Mediated miR-30c-1-3p Maturation Represses the Progression of Lung Cancer via Regulation of MARCKSL1 Expression.
Title: METTL14-Mediated miR-30c-1-3p Maturation Represses the Progression of Lung Cancer via Regulation of MARCKSL1 Expression.
Direct Reprogramming of Human Neurons Identifies MARCKSL1 as a Pathogenic Mediator of Valproic Acid-Induced Teratogenicity.
Title: Direct Reprogramming of Human Neurons Identifies MARCKSL1 as a Pathogenic Mediator of Valproic Acid-Induced Teratogenicity.
Validation study of MARCKSL1 as a prognostic factor in lymph node-negative breast cancer patients.
Title: Validation study of MARCKSL1 as a prognostic factor in lymph node-negative breast cancer patients.
MARCKSL1 showed potent anti-angiogenic activity and reduced the levels of VEGF and HIF-1alpha expression. MARCKSL1 decreased VEGFinduced phosphorylation of the PI3K/Akt signaling pathway components.
Title: MARCKSL1 exhibits anti-angiogenic effects through suppression of VEGFR-2-dependent Akt/PDK-1/mTOR phosphorylation.
MARCKSL1 suppresses LOXL2-induced oncogenesis.
Title: Lysyl oxidase-like 2 (LOXL2) controls tumor-associated cell proliferation through the interaction with MARCKSL1.
Patients with high expression of PPH3 and high MARCKSL1 protein had a lower survival rate versus patients with low MARCKSL1 and high PPH3 expression.
Title: The prognostic value of MARCKS-like 1 in lymph node-negative breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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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

RH77985 (e-PCR)
- UniSTS:37215

RH125343 (e-PCR)
- UniSTS:162165

WI-8367 (e-PCR)
- UniSTS:146569

SHGC-11999 (e-PCR)
- UniSTS:59278

Marcksl1 (e-PCR), detects polymorphism
- UniSTS:507056

RH70887 (e-PCR)
- UniSTS:87026

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: MARCKS-related protein

Names: MARCKS-like protein 1; mac-MARCKS; macrophage myristoylated alanine-rich C kinase substrate

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_023009.7 → NP_075385.1 MARCKS-related protein

See identical proteins and their annotated locations for NP_075385.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and is protein coding.

Source sequence(s)

AI879076, BC007904, N70661

Consensus CDS

CCDS361.1

UniProtKB/Swiss-Prot

D3DPQ0, P49006, Q5TEE6, Q6NXS5

Related

ENSP00000362638.4, ENST00000329421.8

Conserved Domains (1) summary

pfam02063
Location:5 → 195

MARCKS; MARCKS family

RNA

NR_052852.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because it lacks an in-frame coding region compared to variant 1.

Source sequence(s)

AL109945, BC007904, DT218825