KEGG   Homo sapiens (human): 4983
Entry
4983              CDS       T01001                                 
Symbol
OPHN1, ARHGAP41, MRX60, MRXSBL, OPN1
Name
(RefSeq) oligophrenin 1
  KO
K20650  oligophrenin-1
Organism
hsa  Homo sapiens (human)
Disease
H00658  Syndromic X-linked mental retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4983 (OPHN1)
Membrane trafficking [BR:hsa04131]
 Others
  Rho GTPase associated proteins
   Rho GTPase-activating proteins
    4983 (OPHN1)
SSDB
Motif
Pfam: BAR_3 RhoGAP PH Arfaptin
Other DBs
NCBI-GeneID: 4983
NCBI-ProteinID: NP_002538
OMIM: 300127
HGNC: 8148
Ensembl: ENSG00000079482
Pharos: O60890(Tbio)
UniProt: O60890
Position
X:complement(68042344..68433841)
AA seq 802 aa
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
AAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
NT seq 2409 nt   +upstreamnt  +downstreamnt
atgggtcatcccccgctggagttcagcgactgctacctggacagccccgatttccgcgag
aggctcaagtgttatgagcaggaactggagaggaccaacaaattcatcaaagacgtaatc
aaagacggcaacgcgcttatcagcgctatgagaaattattcttctgctgttcagaaattt
tcccagacgctgcagtcatttcagtttgatttcattggagacactctgactgatgatgaa
attaacatcgctgaatccttcaaggaatttgctgaattgctcaacgaggtagaaaatgag
aggatgatgatggtacacaatgctagtgatttgctgattaaacccttggaaaatttccgg
aaggaacaaataggcttcaccaaggagcggaaaaagaaatttgaaaaggatggtgagagg
ttttattctttactggatcggcacttacacctgtcttcaaaaaagaaagaatctcagtta
caagaggcagacctacaggtggacaaggagaggcacaattttttcgagtcctctcttgat
tatgtttatcaaatccaggaagttcaggagtccaagaagttcaatattgtggagcctgtc
ttggcctttcttcatagtctgttcatttctaacagcctgactgtggagctcacacaggat
ttcctcccatacaaacaacagctccaactcagtttacagaatacaagaaatcatttctcc
agtacccgggaagagatggaagaacttaagaaaaggatgaaagaagctccccagacatgc
aaacttccaggacagccaactattgaaggctatctctatacacaagagaaatgggcttta
ggaatatcctgggtgaaatactattgccagtatgagaaagagaccaaaacactgaccatg
acgcctatggagcagaagccaggtgctaagcaggggcccttggacttaacactgaagtac
tgtgtgagaaggaagacggagtctatcgacaagaggttctgttttgacatagaaactaat
gaaaggccaggaaccatcactctgcaggccctttcagaagctaacagaaggctatggatg
gaagccatggatgggaaagaacctatctaccacagccctataacaaaacagcaagaaatg
gagctaaatgaagtgggcttcaagtttgtcaggaagtgcatcaatattattgagaccaaa
gggatcaagacagaagggttgtaccgcactgtgggcagcaatattcaggttcagaagctg
ctgaatgccttttttgatcctaaatgcccaggagatgttgattttcataatagtgactgg
gacattaagacaatcaccagctccttgaaattctacctcaggaatctttctgaacctgtc
atgacctatagacttcacaaagagctggtctctgctgccaagtctgacaacctggattac
cgcctaggagctattcactccctggtatataagctaccagaaaagaaccgagagatgctg
gaacttctgataagacacttggtcaatgtgtgtgagcacagcaaagagaatcttatgacc
ccctccaacatgggagtaatctttgggcccaccctgatgagagctcaggaggacactgtg
gccgccatgatgaacatcaaattccagaacatagtggtggaaatactaatcgagcacttt
ggcaagatctatttaggtccacctgaggaaagcgctgcaccgccagtgcctccgcctcgg
gtgacagcaagaaggcacaaaccaatcacgatttcaaagcgcttgctgcgagaaaggacg
gttttctatacttcttccctggatgaaagcgaagatgaaatccaacatcaaacaccgaat
ggtactatcaccagcagcatagaaccccccaagccaccacaacaccccaaactacctatt
cagaggagtggggaaactgatcctgggaggaagtccccaagcaggcctattttggatggc
aagttggagccctgcccagaggtggacgtggggaagttggtgtctaggctgcaggatgga
gggaccaagatcaccccaaaggccaccaatggacccatgccaggctctgggcccaccaag
accccctctttccacataaagagaccagctccccggcccctggcccaccacaaggagggg
gatgctgacagtttcagcaaagtgcggcctccaggagaaaagccaaccatcatccgcccc
ccagtgaggcccccagatcctccctgccgggcagctactccccaaaagccagaaccaaag
ccagatattgtggctggcaatgcgggggaaatcacatcatctgtggtggcttccaggacc
aggttttttgaaacagcttcccggaaaacaggaagttctcaaggcagacttcctggagat
gaaagttga

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