UniProtKB - Q15555 (MARE2_HUMAN)
Protein
Microtubule-associated protein RP/EB family member 2
Gene
MAPRE2
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity).By similarity
GO - Molecular functioni
- identical protein binding Source: IntAct
- microtubule binding Source: ARUK-UCL
- microtubule plus-end binding Source: GO_Central
- protein kinase binding Source: Ensembl
GO - Biological processi
- cell division Source: UniProtKB-KW
- positive regulation of ARF protein signal transduction Source: ARUK-UCL
- positive regulation of focal adhesion disassembly Source: ARUK-UCL
- positive regulation of GTPase activity Source: ARUK-UCL
- positive regulation of keratinocyte migration Source: ARUK-UCL
- protein localization to microtubule Source: GO_Central
- protein localization to microtubule plus-end Source: GO_Central
- regulation of microtubule polymerization or depolymerization Source: GO_Central
- spindle assembly Source: GO_Central
Keywordsi
Biological process | Cell cycle, Cell division, Mitosis |
Enzyme and pathway databases
PathwayCommonsi | Q15555 |
Names & Taxonomyi
Protein namesi | Recommended name: Microtubule-associated protein RP/EB family member 2Alternative name(s): APC-binding protein EB2 End-binding protein 2 Short name: EB2 |
Gene namesi | Name:MAPRE2 Synonyms:RP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000166974.12 |
HGNCi | HGNC:6891, MAPRE2 |
MIMi | 605789, gene |
neXtProti | NX_Q15555 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Note: Associated with the microtubule network. Accumulates at the plus end of microtubules.
Cytoskeleton
- cytoplasmic microtubule Source: GO_Central
- microtubule Source: GO_Central
- microtubule cytoskeleton Source: LIFEdb
- microtubule organizing center Source: GO_Central
- microtubule plus-end Source: GO_Central
- spindle midzone Source: GO_Central
Other locations
- cytoplasm Source: UniProtKB
- focal adhesion Source: ARUK-UCL
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, MicrotubulePathology & Biotechi
Involvement in diseasei
Skin creases, congenital symmetric circumferential, 2 (CSCSC2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076540 | 68 | N → S in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309719EnsemblClinVar. | 1 | |
Natural variantiVAR_076541 | 87 | Y → C in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309717EnsemblClinVar. | 1 | |
Natural variantiVAR_076542 | 143 | R → C in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309720EnsemblClinVar. | 1 |
Organism-specific databases
DisGeNETi | 10982 |
MalaCardsi | MAPRE2 |
MIMi | 616734, phenotype |
OpenTargetsi | ENSG00000166974 |
Orphaneti | 2505, Multiple benign circumferential skin creases on limbs |
PharmGKBi | PA30635 |
Miscellaneous databases
Pharosi | Q15555, Tbio |
Protein family/group databases
Allergomei | 8363, Hom s RP1 |
Polymorphism and mutation databases
BioMutai | MAPRE2 |
DMDMi | 60390165 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
ChainiPRO_0000213424 | 1 – 327 | Microtubule-associated protein RP/EB family member 2Add BLAST | 327 | ||
Isoform 5 (identifier: Q15555-5) | |||||
Initiator methioninei | RemovedCombined sources |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 9 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 167 | PhosphotyrosineCombined sources | 1 | ||
Modified residuei | 219 | PhosphoserineCombined sources | 1 | ||
Isoform 5 (identifier: Q15555-5) | |||||
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q15555 |
jPOSTi | Q15555 |
MassIVEi | Q15555 |
MaxQBi | Q15555 |
PaxDbi | Q15555 |
PeptideAtlasi | Q15555 |
PRIDEi | Q15555 |
ProteomicsDBi | 20585 25777 33949 60631 [Q15555-1] 60632 [Q15555-2] |
2D gel databases
OGPi | Q15555 |
PTM databases
iPTMneti | Q15555 |
PhosphoSitePlusi | Q15555 |
Expressioni
Tissue specificityi
Expressed in different tumor cell lines. Up-regulated in activated B- and T-lymphocytes.1 Publication
Gene expression databases
Bgeei | ENSG00000166974, Expressed in C1 segment of cervical spinal cord and 246 other tissues |
ExpressionAtlasi | Q15555, baseline and differential |
Genevisiblei | Q15555, HS |
Organism-specific databases
HPAi | ENSG00000166974, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ15555
GO - Molecular functioni
- identical protein binding Source: IntAct
- microtubule binding Source: ARUK-UCL
- microtubule plus-end binding Source: GO_Central
- protein kinase binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 116178, 65 interactors |
IntActi | Q15555, 34 interactors |
STRINGi | 9606.ENSP00000300249 |
Miscellaneous databases
RNActi | Q15555, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 57 – 159 | Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST | 103 | |
Domaini | 236 – 306 | EB1 C-terminalPROSITE-ProRule annotationAdd BLAST | 71 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 187 – 327 | DCTN1-bindingAdd BLAST | 141 | |
Regioni | 259 – 302 | APC-bindingAdd BLAST | 44 |
Domaini
Composed of two functionally independent domains. The N-terminal domain forms a hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.
Sequence similaritiesi
Belongs to the MAPRE family.Curated
Phylogenomic databases
eggNOGi | KOG3000, Eukaryota |
GeneTreei | ENSGT00490000043329 |
HOGENOMi | CLU_041744_1_0_1 |
InParanoidi | Q15555 |
OMAi | AYCQIID |
PhylomeDBi | Q15555 |
TreeFami | TF313620 |
Family and domain databases
Gene3Di | 1.10.418.10, 1 hit 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR004953, EB1_C IPR036133, EB1_C_sf IPR042180, IF_rod_dom_coil1B IPR027328, MAPRE IPR027735, RP1/EB2_vertebrate |
PANTHERi | PTHR10623, PTHR10623, 1 hit PTHR10623:SF7, PTHR10623:SF7, 1 hit |
Pfami | View protein in Pfam PF00307, CH, 1 hit PF03271, EB1, 1 hit |
SUPFAMi | SSF140612, SSF140612, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS51230, EB1_C, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q15555-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPGPTQTLSP NGENNNDIIQ DNNGTIIPFR KHTVRGERSY SWGMAVNVYS
60 70 80 90 100
TSITQETMSR HDIIAWVNDI VSLNYTKVEQ LCSGAAYCQF MDMLFPGCIS
110 120 130 140 150
LKKVKFQAKL EHEYIHNFKL LQASFKRMNV DKVIPVEKLV KGRFQDNLDF
160 170 180 190 200
IQWFKKFYDA NYDGKEYDPV EARQGQDAIP PPDPGEQIFN LPKKSHHANS
210 220 230 240 250
PTAGAAKSSP AAKPGSTPSR PSSAKRASSS GSASKSDKDL ETQVIQLNEQ
260 270 280 290 300
VHSLKLALEG VEKERDFYFG KLREIELLCQ EHGQENDDLV QRLMDILYAS
310 320
EEHEGHTEEP EAEEQAHEQQ PPQQEEY
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ERD8 | K7ERD8_HUMAN | Microtubule-associated protein RP/E... | MAPRE2 | 194 | Annotation score: | ||
K7EL66 | K7EL66_HUMAN | Microtubule-associated protein RP/E... | MAPRE2 | 134 | Annotation score: | ||
K7ENB3 | K7ENB3_HUMAN | Microtubule-associated protein RP/E... | MAPRE2 | 78 | Annotation score: | ||
M0QX52 | M0QX52_HUMAN | Microtubule-associated protein RP/E... | MAPRE2 | 127 | Annotation score: |
Sequence cautioni
The sequence BAA83375 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 65 | A → G in BAA83375 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 100 | S → N in BAG58966 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 128 | M → K in BAG58966 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 209 | S → G in BAG52251 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 235 | K → I in BAH11899 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076540 | 68 | N → S in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309719EnsemblClinVar. | 1 | |
Natural variantiVAR_076541 | 87 | Y → C in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309717EnsemblClinVar. | 1 | |
Natural variantiVAR_076542 | 143 | R → C in CSCSC2; enhances binding to microtubules. 1 PublicationCorresponds to variant dbSNP:rs864309720EnsemblClinVar. | 1 | |
Natural variantiVAR_050018 | 162 | Y → C. Corresponds to variant dbSNP:rs11538993Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046041 | 1 – 83 | MPGPT…EQLCS → MARTTTTSSRIITGPSFLSG STQCAGSVPT in isoform 4. 1 PublicationAdd BLAST | 83 | |
Alternative sequenceiVSP_055671 | 1 – 43 | Missing in isoform 5. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_045710 | 1 – 40 | MPGPT…GERSY → MKQNRDQKCPVSQRNSSFQQ PGRKPGCS in isoform 3. 1 PublicationAdd BLAST | 40 | |
Alternative sequenceiVSP_012944 | 252 – 259 | HSLKLALE → MHQLWPRL in isoform 2. 1 Publication | 8 | |
Alternative sequenceiVSP_012945 | 260 – 327 | Missing in isoform 2. 1 PublicationAdd BLAST | 68 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X94232 mRNA Translation: CAA63923.1 AB016823 mRNA Translation: BAA83375.1 Different initiation. CR536545 mRNA Translation: CAG38782.1 BT020086 mRNA Translation: AAV38889.1 AK090945 mRNA Translation: BAG52251.1 AK296251 mRNA Translation: BAG58966.1 AK294833 mRNA Translation: BAH11899.1 AK315766 mRNA Translation: BAG38118.1 AC009277 Genomic DNA No translation available. AC015967 Genomic DNA No translation available. CH471088 Genomic DNA Translation: EAX01336.1 CH471088 Genomic DNA Translation: EAX01338.1 BC007318 mRNA Translation: AAH07318.1 |
CCDSi | CCDS11910.1 [Q15555-1] CCDS45850.1 [Q15555-3] CCDS45851.1 [Q15555-5] CCDS58619.1 [Q15555-4] |
PIRi | G01037 |
RefSeqi | NP_001137298.1, NM_001143826.2 [Q15555-5] NP_001137299.1, NM_001143827.2 [Q15555-3] NP_001243349.1, NM_001256420.1 [Q15555-4] NP_055083.1, NM_014268.3 [Q15555-1] |
Genome annotation databases
Ensembli | ENST00000300249; ENSP00000300249; ENSG00000166974 [Q15555-1] ENST00000413393; ENSP00000396074; ENSG00000166974 [Q15555-5] ENST00000436190; ENSP00000407723; ENSG00000166974 [Q15555-3] ENST00000538170; ENSP00000446343; ENSG00000166974 [Q15555-4] ENST00000588910; ENSP00000468588; ENSG00000166974 [Q15555-2] ENST00000589699; ENSP00000464921; ENSG00000166974 [Q15555-5] |
GeneIDi | 10982 |
KEGGi | hsa:10982 |
UCSCi | uc002kyf.3, human [Q15555-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X94232 mRNA Translation: CAA63923.1 AB016823 mRNA Translation: BAA83375.1 Different initiation. CR536545 mRNA Translation: CAG38782.1 BT020086 mRNA Translation: AAV38889.1 AK090945 mRNA Translation: BAG52251.1 AK296251 mRNA Translation: BAG58966.1 AK294833 mRNA Translation: BAH11899.1 AK315766 mRNA Translation: BAG38118.1 AC009277 Genomic DNA No translation available. AC015967 Genomic DNA No translation available. CH471088 Genomic DNA Translation: EAX01336.1 CH471088 Genomic DNA Translation: EAX01338.1 BC007318 mRNA Translation: AAH07318.1 |
CCDSi | CCDS11910.1 [Q15555-1] CCDS45850.1 [Q15555-3] CCDS45851.1 [Q15555-5] CCDS58619.1 [Q15555-4] |
PIRi | G01037 |
RefSeqi | NP_001137298.1, NM_001143826.2 [Q15555-5] NP_001137299.1, NM_001143827.2 [Q15555-3] NP_001243349.1, NM_001256420.1 [Q15555-4] NP_055083.1, NM_014268.3 [Q15555-1] |
3D structure databases
SMRi | Q15555 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116178, 65 interactors |
IntActi | Q15555, 34 interactors |
STRINGi | 9606.ENSP00000300249 |
Protein family/group databases
Allergomei | 8363, Hom s RP1 |
PTM databases
iPTMneti | Q15555 |
PhosphoSitePlusi | Q15555 |
Polymorphism and mutation databases
BioMutai | MAPRE2 |
DMDMi | 60390165 |
2D gel databases
OGPi | Q15555 |
Proteomic databases
EPDi | Q15555 |
jPOSTi | Q15555 |
MassIVEi | Q15555 |
MaxQBi | Q15555 |
PaxDbi | Q15555 |
PeptideAtlasi | Q15555 |
PRIDEi | Q15555 |
ProteomicsDBi | 20585 25777 33949 60631 [Q15555-1] 60632 [Q15555-2] |
Protocols and materials databases
Antibodypediai | 8544, 391 antibodies |
DNASUi | 10982 |
Genome annotation databases
Ensembli | ENST00000300249; ENSP00000300249; ENSG00000166974 [Q15555-1] ENST00000413393; ENSP00000396074; ENSG00000166974 [Q15555-5] ENST00000436190; ENSP00000407723; ENSG00000166974 [Q15555-3] ENST00000538170; ENSP00000446343; ENSG00000166974 [Q15555-4] ENST00000588910; ENSP00000468588; ENSG00000166974 [Q15555-2] ENST00000589699; ENSP00000464921; ENSG00000166974 [Q15555-5] |
GeneIDi | 10982 |
KEGGi | hsa:10982 |
UCSCi | uc002kyf.3, human [Q15555-1] |
Organism-specific databases
CTDi | 10982 |
DisGeNETi | 10982 |
EuPathDBi | HostDB:ENSG00000166974.12 |
GeneCardsi | MAPRE2 |
HGNCi | HGNC:6891, MAPRE2 |
HPAi | ENSG00000166974, Tissue enhanced (brain) |
MalaCardsi | MAPRE2 |
MIMi | 605789, gene 616734, phenotype |
neXtProti | NX_Q15555 |
OpenTargetsi | ENSG00000166974 |
Orphaneti | 2505, Multiple benign circumferential skin creases on limbs |
PharmGKBi | PA30635 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3000, Eukaryota |
GeneTreei | ENSGT00490000043329 |
HOGENOMi | CLU_041744_1_0_1 |
InParanoidi | Q15555 |
OMAi | AYCQIID |
PhylomeDBi | Q15555 |
TreeFami | TF313620 |
Enzyme and pathway databases
PathwayCommonsi | Q15555 |
Miscellaneous databases
BioGRID-ORCSi | 10982, 4 hits in 846 CRISPR screens |
ChiTaRSi | MAPRE2, human |
GeneWikii | MAPRE2 |
GenomeRNAii | 10982 |
Pharosi | Q15555, Tbio |
PROi | PR:Q15555 |
RNActi | Q15555, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166974, Expressed in C1 segment of cervical spinal cord and 246 other tissues |
ExpressionAtlasi | Q15555, baseline and differential |
Genevisiblei | Q15555, HS |
Family and domain databases
Gene3Di | 1.10.418.10, 1 hit 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR001715, CH-domain IPR036872, CH_dom_sf IPR004953, EB1_C IPR036133, EB1_C_sf IPR042180, IF_rod_dom_coil1B IPR027328, MAPRE IPR027735, RP1/EB2_vertebrate |
PANTHERi | PTHR10623, PTHR10623, 1 hit PTHR10623:SF7, PTHR10623:SF7, 1 hit |
Pfami | View protein in Pfam PF00307, CH, 1 hit PF03271, EB1, 1 hit |
SUPFAMi | SSF140612, SSF140612, 1 hit SSF47576, SSF47576, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS51230, EB1_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MARE2_HUMAN | |
Accessioni | Q15555Primary (citable) accession number: Q15555 Secondary accession number(s): B2RE21 Q9UQ33 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2005 |
Last sequence update: | November 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations