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Identification
HMDB Protein ID HMDBP08496
Secondary Accession Numbers
  • 14208
Name Oligophrenin-1
Synonyms Not Available
Gene Name OPHN1
Protein Type Unknown
Biological Properties
General Function Involved in cytoskeletal adaptor activity
Specific 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 post-synaptic sites. Critical for the regulation of synaptic vesicle endocytosis at pre-synaptic terminals
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
Cellular Location
  1. Cell junction
  2. synapse
  3. Cell projection
  4. Cell projection
  5. dendritic spine
  6. axon
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs OPHN1
Gene Sequence
>2409 bp
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
Protein Properties
Number of Residues 802
Molecular Weight 91639.9
Theoretical pI 8.07
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Oligophrenin-1
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
AAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
GenBank ID Protein 33354083
UniProtKB/Swiss-Prot ID O60890
UniProtKB/Swiss-Prot Entry Name OPHN1_HUMAN
PDB IDs Not Available
GenBank Gene ID AB102656
GeneCard ID OPHN1
GenAtlas ID OPHN1
HGNC ID HGNC:8148
References
General References
  1. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  2. Kitano T, Schwarz C, Nickel B, Paabo S: Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. Mol Biol Evol. 2003 Aug;20(8):1281-9. Epub 2003 May 30. [PubMed:12777533 ]
  3. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J: Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature. 1998 Apr 30;392(6679):923-6. [PubMed:9582072 ]
  4. Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Anneren G, Willard HF, Dahl N: Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. Eur J Hum Genet. 1999 Jul;7(5):541-8. [PubMed:10439959 ]
  5. Billuart P, Chelly J, Carrie A, Vinet M, Couvert P, McDonell N, Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T: Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. Ann Genet. 2000 Jan-Mar;43(1):5-9. [PubMed:10818214 ]