Homo sapiens (human): 4983
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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
X-linked syndromic intellectual developmental disorder
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
BAR_3
RhoGAP
PH
Arfaptin
Motif
Other DBs
NCBI-GeneID:
4983
NCBI-ProteinID:
NP_002538
OMIM:
300127
HGNC:
8148
Ensembl:
ENSG00000079482
UniProt:
O60890
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Position
X:complement(68042344..68433841)
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AA seq
802 aa
AA seq
DB search
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
AAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
NT seq
2409 nt
NT seq
+upstream
nt +downstream
nt
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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