MAPRE2
entrez
10982
canonical
uniprot
Q15555
canonical
ensembl
ENSG00000166974
resolver
ensp
ENSP00000300249
resolver
ensp
ENSP00000396074
resolver
ensp
ENSP00000407723
resolver
ensp
ENSP00000446343
resolver
genesymbol
MAPRE2
resolver
genesymbol_syn
RP1
resolver
hgnc
HGNC:6891
resolver
uniprot
B2RE21
resolver
uniprot
B3KR39
resolver
uniprot
B4DJV4
resolver
uniprot
B7Z2L3
resolver
uniprot
E9PHR3
resolver
uniprot
F5H1V8
resolver
uniprot
G5E9I6
resolver
uniprot
Q9UQ33
resolver
uniprot_entry
MARE2_HUMAN
resolver
uniprot_sec
B2RE21
resolver
uniprot_sec
B3KR39
resolver
uniprot_sec
B4DJV4
resolver
uniprot_sec
B7Z2L3
resolver
uniprot_sec
E9PHR3
resolver
uniprot_sec
F5H1V8
resolver
uniprot_sec
G5E9I6
resolver
uniprot_sec
Q9UQ33
resolver
amino_acid_sequence
MPGPTQTLSPNGENNNDIIQDNNGTIIPFRKHTVRGERSYSWGMAVNVYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYCQFMDMLFPGCISLKKVKFQAKLEHEYIHNFKLLQASFKRMNVDKVIPVEKLVKGRFQDNLDFIQWFKKFYDANYDGKEYDPVEARQGQDAIPPPDPGEQIFNLPKKSHHANSPTAGAAKSSPAAKPGSTPSRPSSAKRASSSGSASKSDKDLETQVIQLNEQVHSLKLALEGVEKERDFYFGKLREIELLCQEHGQENDDLVQRLMDILYASEEHEGHTEEPEAEEQAHEQQPPQQEEY
uniprot
proteins
disease_involvement
DISEASE: Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734]: An 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. {ECO:0000269|PubMed:26637975}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Therefore, ensures mitotic progression and genome stability (PubMed:27030108). Acts as a central regulator of microtubule reorganization in apico-basal epithelial differentiation (By similarity). Plays a role during oocyte meiosis by regulating microtubule dynamics (By similarity). Participates in neurite growth by interacting with plexin B3/PLXNB3 and microtubule reorganization during apico-basal epithelial differentiation (PubMed:22373814). Also plays an essential role for cell migration and focal adhesion dynamics. Mechanistically, recruits HAX1 to microtubules in order to regulate focal adhesion dynamics (PubMed:26527684). {ECO:0000250|UniProtKB:Q8R001, ECO:0000269|PubMed:22373814, ECO:0000269|PubMed:23844040, ECO:0000269|PubMed:26527684, ECO:0000269|PubMed:27030108}.
uniprot
proteins
mass_dalton
37031
uniprot
proteins
mutagenesis
MUTAGEN 236; /note="S->A: Significant loss of phosphorylation and cell adhesion activity."; /evidence="ECO:0000269|PubMed:23844040
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-236 by CK2 leading to enhanced cell adhesion (PubMed:23844040). Phosphorylated by CDK1 and AURKB during mitosis reduces the binding affinity of MAPRE2 for microtubules (PubMed:27030108). {ECO:0000269|PubMed:23844040, ECO:0000269|PubMed:27030108}.; PTM: Ubiquitinated in an ASB14-dependent manner; leading to proteasomal degradation. {ECO:0000250|UniProtKB:Q8R001}.
uniprot
proteins
protein_family
MAPRE family
uniprot
proteins
pubmed
10188731
uniprot
proteins
pubmed
14514668
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15986447
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21646404
uniprot
proteins
pubmed
22373814
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23844040
uniprot
proteins
pubmed
26527684
uniprot
proteins
pubmed
26637975
uniprot
proteins
pubmed
27030108
uniprot
proteins
pubmed
9233623
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10188731}. Note=Associated with the microtubule network. Accumulates at the plus end of microtubules.
uniprot
proteins