OPHN1
entrez
4983
canonical
uniprot
O60890
canonical
ensembl
ENSG00000079482
resolver
ensp
ENSP00000347710
resolver
ensp
ENSP00000505365
resolver
ensp
ENSP00000505800
resolver
ensp
ENSP00000575128
resolver
ensp
ENSP00000707595
resolver
enst
ENST00000679748
resolver
genesymbol
OPHN1
resolver
hgnc
HGNC:8148
resolver
uniprot
A0A7P0Z4E9
resolver
uniprot
B9EIP8
resolver
uniprot
Q5JQ81
resolver
uniprot
Q6PCC1
resolver
uniprot
Q8WX47
resolver
uniprot_entry
A0A7P0Z4E9_HUMAN
resolver
uniprot_entry
OPHN1_HUMAN
resolver
uniprot_sec
B9EIP8
resolver
uniprot_sec
Q5JQ81
resolver
uniprot_sec
Q6PCC1
resolver
uniprot_sec
Q8WX47
resolver
amino_acid_sequence
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKFSQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWMEAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKLLNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRTRFFETASRKTGSSQGRLPGDES
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Billuart type (MRXSBL) [MIM:300486]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBL patients manifest intellectual disability associated with cerebellar hypoplasia and distinctive facial dysmorphism. {ECO:0000269|PubMed:10439959, ECO:0000269|PubMed:21796728, ECO:0000269|PubMed:9582072}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
91641
uniprot
proteins
pubmed
10439959
uniprot
proteins
pubmed
10818214
uniprot
proteins
pubmed
12777533
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21796728
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9582072
uniprot
proteins
sequence_length
802
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynapse {ECO:0000250|UniProtKB:P0CAX5}. Presynapse {ECO:0000250|UniProtKB:P0CAX5}. Cell projection, axon {ECO:0000250|UniProtKB:P0CAX5}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P0CAX5}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q99J31}. Cytoplasm {ECO:0000250|UniProtKB:Q99J31}.
uniprot
proteins