MAPRE3 microtubule associated protein RP/EB family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPRE3provided by HGNC
Official Full Name: microtubule associated protein RP/EB family member 3provided by HGNC
Primary source: HGNC:HGNC:6892
See related: Ensembl:ENSG00000084764 MIM:605788; AllianceGenome:HGNC:6892
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: EB3; RP3; EBF3; EBF3-S
Summary: The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 45.3), testis (RPKM 13.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26970637..27027219)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27012305..27068902)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27193505..27250087)

Chromosome 2 - NC_000002.12 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 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?

MAPRE3 as an epigenetic target of EZH2 restricts ovarian cancer proliferation in vitro and in vivo.
Title: MAPRE3 as an epigenetic target of EZH2 restricts ovarian cancer proliferation in vitro and in vivo.
structure prediction of the C-terminal domain of the microtubule end-binding protein 3
Title: NMR resonance assignment and structure prediction of the C-terminal domain of the microtubule end-binding protein 3.
Extracellular recordings revealed that the V337M tau mutation leads to an abnormal increase in neuronal activity in response to chronic depolarization. In neurons with this mutation, axon initial segment (AIS) plasticity is impaired by the abnormal accumulation of end-binding protein 3 (EB3) in the AIS submembrane region.
Title: Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis.
IP3K-A binds to EB3 and their binding affinity is precisely regulated by protein kinase A (PKA)-dependent phosphorylation of IP3K-A at Ser119 (pSer119). The complex of IP3K-A and EB3 dissociates and reassociates rapidly during chemically induced LTP.
Title: PKA-dependent phosphorylation of IP3K-A at Ser119 regulates a binding affinity with EB3.
One candidate pathway coupling actin filaments to microtubules consists of the actin filament-binding protein drebrin and the microtubule-binding +TIP protein EB3. This pathway is regulated proximally by cyclin-dependent kinase 5 phosphorylation of drebrin but the upstream elements in the pathway have yet to be identified.
Title: Phosphorylation of Drebrin and Its Role in Neuritogenesis.
EB1 and EB3 thus affect multiple interphase processes and have a major impact on microtubule minus end organization.
Title: EB1 and EB3 regulate microtubule minus end organization and Golgi morphology.
Findings show that co-ordination of dynamic microtubules and actin filaments by the drebrin/EB3 pathway drives prostate cancer cell invasion and is therefore implicated in disease progression.
Title: The drebrin/EB3 pathway drives invasive activity in prostate cancer.
Aptamers binding to human EB1 and EB3, which have sequence requirements similar to but distinct from each other and from Drosophila EB1, were identified.
Title: Peptide aptamers define distinct EB1- and EB3-binding motifs and interfere with microtubule dynamics.
EB1 and EB3 proteins are obligatory dimers.
Title: End binding proteins are obligatory dimers.
Findings suggest that methylation-associated down-regulation of EBF3 and IRX1 genes may play an important role in a pathogenic effect of TGF-beta on RASFs.
Title: Hypermethylation of EBF3 and IRX1 genes in synovial fibroblasts of patients with rheumatoid arthritis.

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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

RH102194 (e-PCR)
- UniSTS:96528

D2S1562E (e-PCR)
- UniSTS:150647

RH12421 (e-PCR)
- UniSTS:18811

SHGC-143589 (e-PCR)
- UniSTS:171968

RH98551 (e-PCR)
- UniSTS:84954

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables microtubule plus-end binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to microtubule	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microtubule polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytoplasmic microtubule	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with cytoplasmic microtubule	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	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule plus-end	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitotic spindle astral microtubule end	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle midzone	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: microtubule-associated protein RP/EB family member 3

Names: APC binding protein; EB1 protein family member 3; end-binding protein 3

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_001303050.2 → NP_001289979.1 microtubule-associated protein RP/EB family member 3 isoform 1

See identical proteins and their annotated locations for NP_001289979.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.

Source sequence(s)

AB025186, AC013472, BC011557, BM560331, HY011071

Consensus CDS

CCDS1731.1

UniProtKB/Swiss-Prot

B7WPK5, O00265, Q6FHB0, Q6FI15, Q9BZP7, Q9BZP8, Q9UPY8

UniProtKB/TrEMBL

B2R5W6

Conserved Domains (1) summary

COG5217
Location:16 → 279

BIM1; Microtubule-binding protein involved in cell cycle control [Cell division and chromosome partitioning / Cytoskeleton]
NM_001410716.1 → NP_001397645.1 microtubule-associated protein RP/EB family member 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC013472

Consensus CDS

CCDS92722.1

Related

ENSP00000383915.3, ENST00000405074.7
NM_012326.4 → NP_036458.2 microtubule-associated protein RP/EB family member 3 isoform 1

See identical proteins and their annotated locations for NP_036458.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.

Source sequence(s)

AB025186, AC013472, BC011557, DC417465

Consensus CDS

CCDS1731.1

UniProtKB/Swiss-Prot

B7WPK5, O00265, Q6FHB0, Q6FI15, Q9BZP7, Q9BZP8, Q9UPY8

UniProtKB/TrEMBL

B2R5W6

Related

ENSP00000233121.2, ENST00000233121.7

Conserved Domains (1) summary

COG5217
Location:16 → 279

BIM1; Microtubule-binding protein involved in cell cycle control [Cell division and chromosome partitioning / Cytoskeleton]