KEGG   Homo sapiens (human): 4983Help
Entry
4983              CDS       T01001                                 

Gene name
OPHN1, ARHGAP41, MRX60, OPN1
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: BAR_3 RhoGAP PH Arfaptin
Motif
Other DBs
NCBI-GeneID: 4983
NCBI-ProteinID: NP_002538
OMIM: 300127
HGNC: 8148
Ensembl: ENSG00000079482
Vega: OTTHUMG00000021744
Pharos: O60890(Tbio)
UniProt: O60890
Position
Xq12
AA seq 802 aa AA seqDB search
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
AAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
NT seq 2409 nt NT seq  +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (21)   
   RefSeq(nuc) (5)   
   GenBank (8)   
   EMBL (8)   
Protein domain (4)   
   Pfam (4)   
All databases (53)   

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