Human Gene MAPRE1 (ENST00000375571.6_4) from GENCODE V47lift37
  Description: microtubule associated protein RP/EB family member 1 (from RefSeq NM_012325.3)
Gencode Transcript: ENST00000375571.6_4
Gencode Gene: ENSG00000101367.9_7
Transcript (Including UTRs)
   Position: hg19 chr20:31,407,760-31,438,211 Size: 30,452 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr20:31,413,734-31,436,534 Size: 22,801 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:31,407,760-31,438,211)mRNA (may differ from genome)Protein (268 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MARE1_HUMAN
DESCRIPTION: RecName: Full=Microtubule-associated protein RP/EB family member 1; AltName: Full=APC-binding protein EB1; AltName: Full=End-binding protein 1; Short=EB1;
FUNCTION: Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes cytoplasmic microtubule nucleation and elongation. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration.
SUBUNIT: Homodimer. Heterodimer with MAPRE3. Interacts with DCTN1, DCTN2, DIAPH1, DIAPH2, TERF1 and dynein intermediate chain. Interacts with APC (via C-terminal domain), CLASP2, DST, KIF2C and STIM1; probably required for their targeting to the growing microtubule plus ends. Interacts with MTUS2; interaction is direct and probably targets MTUS2 to microtubules. Interacts with APC2. Interacts with CLASP1. Interacts with CDK5RAP2. Interacts with MACF1 (By similarity). Interacts (via C-terminus) with CLIP1. Interacts with SLAIN2. Interacts with KIF18B; this interaction is required for efficient accumulation of KIF18B at microtubule plus ends.
INTERACTION: P25054:APC; NbExp=4; IntAct=EBI-1004115, EBI-727707; Q03001:DST; NbExp=2; IntAct=EBI-1004115, EBI-310758; P54274:TERF1; NbExp=2; IntAct=EBI-1004115, EBI-710997;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, centrosome. Note=Associated with the microtubule network at the growing distal tip of microtubules. Also enriched at the centrosome.
TISSUE SPECIFICITY: Ubiquitously expressed.
DOMAIN: Composed of two functionally independent domains. The N- terminal domain forms an hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.
SIMILARITY: Belongs to the MAPRE family.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 1 EB1 C-terminal domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MAPRE1ID455ch20q11.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAPRE1
Diseases sorted by gene-association score: adenomatous polyposis coli (8), familial adenomatous polyposis (5), colorectal cancer (1), colonic benign neoplasm (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.61 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1676.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.9078-0.332 Picture PostScript Text
3' UTR -443.601677-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR004953 - EB1_C

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF03271 - EB1-like C-terminal motif

SCOP Domains:
140612 - EB1 dimerisation domain-like
47576 - Calponin-homology domain, CH-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1PA7 - X-ray MuPIT 1TXQ - X-ray MuPIT 1UEG - X-ray MuPIT 1VKA - X-ray MuPIT 1WU9 - X-ray MuPIT 1YIB - X-ray MuPIT 1YIG - X-ray MuPIT 2HKQ - X-ray MuPIT 2HL3 - X-ray MuPIT 2HL5 - X-ray MuPIT 2QJZ - X-ray MuPIT 2R8U - X-ray MuPIT 3GJO - X-ray MuPIT 3TQ7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15691
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008022 protein C-terminus binding
GO:0019901 protein kinase binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding
GO:0051010 microtubule plus-end binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0007049 cell cycle
GO:0008104 protein localization
GO:0008283 cell proliferation
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0030335 positive regulation of cell migration
GO:0031115 negative regulation of microtubule polymerization
GO:0031116 positive regulation of microtubule polymerization
GO:0035372 protein localization to microtubule
GO:0051301 cell division
GO:0070507 regulation of microtubule cytoskeleton organization
GO:0097711 ciliary basal body docking
GO:1903033 positive regulation of microtubule plus-end binding

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005881 cytoplasmic microtubule
GO:0015630 microtubule cytoskeleton
GO:0030981 cortical microtubule cytoskeleton
GO:0031253 cell projection membrane
GO:0035371 microtubule plus-end
GO:0042995 cell projection
GO:0005819 spindle


-  Descriptions from all associated GenBank mRNAs
  AK297273 - Homo sapiens cDNA FLJ52068 complete cds, highly similar to Microtubule-associated protein RP/EB family member 1.
BC106068 - Homo sapiens microtubule-associated protein, RP/EB family, member 1, mRNA (cDNA clone MGC:117374 IMAGE:6527006), complete cds.
U24166 - Homo sapiens EB1 mRNA, complete cds.
BC109281 - Homo sapiens microtubule-associated protein, RP/EB family, member 1, mRNA (cDNA clone MGC:129946 IMAGE:40031641), complete cds.
BC040410 - Homo sapiens microtubule-associated protein, RP/EB family, member 1, mRNA (cDNA clone IMAGE:2899942).
AK312590 - Homo sapiens cDNA, FLJ92966, Homo sapiens microtubule-associated protein, RP/EB family, member 1(MAPRE1), mRNA.
JD559055 - Sequence 540079 from Patent EP1572962.
BC128442 - Homo sapiens microtubule-associated protein, RP/EB family, member 1, mRNA (cDNA clone IMAGE:40120302), partial cds.
AB463888 - Synthetic construct DNA, clone: pF1KB8147, Homo sapiens MAPRE1 gene for microtubule-associated protein, RP/EB family, member 1, without stop codon, in Flexi system.
EU832776 - Synthetic construct Homo sapiens clone HAIB:100067805; DKFZo008B0733 microtubule-associated protein, RP/EB family, member 1 protein (MAPRE1) gene, encodes complete protein.
GQ129296 - Synthetic construct Homo sapiens clone HAIB:100068466; DKFZo004B0734 microtubule-associated protein, RP/EB family, member 1 protein (MAPRE1) gene, partial cds.
KJ893307 - Synthetic construct Homo sapiens clone ccsbBroadEn_02701 MAPRE1 gene, encodes complete protein.
AK310817 - Homo sapiens cDNA, FLJ17859.
JD042665 - Sequence 23689 from Patent EP1572962.
JD507493 - Sequence 488517 from Patent EP1572962.
JD502894 - Sequence 483918 from Patent EP1572962.
JD321656 - Sequence 302680 from Patent EP1572962.
JD235857 - Sequence 216881 from Patent EP1572962.
JD539193 - Sequence 520217 from Patent EP1572962.
JD336222 - Sequence 317246 from Patent EP1572962.
JD192580 - Sequence 173604 from Patent EP1572962.
JD039303 - Sequence 20327 from Patent EP1572962.
JD506746 - Sequence 487770 from Patent EP1572962.
JD261519 - Sequence 242543 from Patent EP1572962.
JD416171 - Sequence 397195 from Patent EP1572962.
JD391362 - Sequence 372386 from Patent EP1572962.
JD539429 - Sequence 520453 from Patent EP1572962.
JD469322 - Sequence 450346 from Patent EP1572962.
JD186881 - Sequence 167905 from Patent EP1572962.
JD078976 - Sequence 60000 from Patent EP1572962.
JD354676 - Sequence 335700 from Patent EP1572962.
JD257862 - Sequence 238886 from Patent EP1572962.
JD294309 - Sequence 275333 from Patent EP1572962.
JD277443 - Sequence 258467 from Patent EP1572962.
JD298103 - Sequence 279127 from Patent EP1572962.
JD149041 - Sequence 130065 from Patent EP1572962.
DQ574454 - Homo sapiens piRNA piR-42566, complete sequence.
JD350501 - Sequence 331525 from Patent EP1572962.
JD304515 - Sequence 285539 from Patent EP1572962.
JD236506 - Sequence 217530 from Patent EP1572962.
JD459711 - Sequence 440735 from Patent EP1572962.
JD283773 - Sequence 264797 from Patent EP1572962.
JD357608 - Sequence 338632 from Patent EP1572962.
JD284042 - Sequence 265066 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15691 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-8852298 GTSE1 binds MAPRE1 (EB1) at microtubule plus ends
R-HSA-8852306 Mitotic phosphorylation-induced dissociation of GTSE1 from microtubule plus ends
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction
R-HSA-453274 Mitotic G2-G2/M phases

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6I7, E1P5M8, ENST00000375571.1, ENST00000375571.2, ENST00000375571.3, ENST00000375571.4, ENST00000375571.5, MAPRE1 , MARE1_HUMAN, NM_012325, Q15691, Q3KQS8, uc318miz.1, uc318miz.2
UCSC ID: ENST00000375571.6_4
RefSeq Accession: NM_012325.3
Protein: Q15691 (aka MARE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.