LOCUS AJ272033 2211 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for gephyrin (GPHRYN gene).
ACCESSION AJ272033
VERSION AJ272033.1
KEYWORDS gephyrin; GPHRYN gene.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2211)
AUTHORS Becker C.M.
JOURNAL Submitted (10-FEB-2000) to the INSDC. Becker C.M., Institut fur
Biochemie, Universitat Erlangen-Nurnberg, Fahrstrasse 17, D-91054
Erlangen, GERMANY.
REFERENCE 2
AUTHORS Butler M.H., Hayashi A., Okoshi N., Villmann C., Becker C.M.,
Feng G., De Camilli P., Solimena M.
TITLE Autoimmunity to gephyrin in Stiff-Man syndrome
JOURNAL Neuron 26(2), 307-312(2000).
PUBMED 10839351
COMMENT Related sequence AI124781
FEATURES Location/Qualifiers
source 1..2211
/db_xref="H-InvDB:HIT000246215"
/organism="Homo sapiens"
/mol_type="mRNA"
/clone_lib="lambda gt10"
/tissue_type="hippocampus"
/db_xref="taxon:9606"
CDS 1..2211
/gene="GPHRYN"
/product="gephyrin"
/function="postsynaptic clustering of glycine and GABA-A
receptors"
/db_xref="GOA:Q9NQX3"
/db_xref="H-InvDB:HIT000246215.13"
/db_xref="HGNC:HGNC:15465"
/db_xref="InterPro:IPR001453"
/db_xref="InterPro:IPR005110"
/db_xref="InterPro:IPR005111"
/db_xref="InterPro:IPR008284"
/db_xref="InterPro:IPR036135"
/db_xref="InterPro:IPR036425"
/db_xref="InterPro:IPR036688"
/db_xref="InterPro:IPR038987"
/db_xref="PDB:1JLJ"
/db_xref="UniProtKB/Swiss-Prot:Q9NQX3"
/experiment="experimental evidence, no additional details
recorded"
/protein_id="CAC81240.1"
/translation="MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQ
DPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKE
VIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILP
ALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEE
KKDSGVASTEDSSSSHITAAAIAAKIPDSIISRGVQVLPRDTVSLSTTPSESPRAQAT
SRLSTASCPTPKVQSRCSSKENILRASHSAVDITKVARRHRMSPFPLTSMDKAFITVL
EMTPVLGTEIINYRDGMGRVLAQDVYAKDNLPPFPASVKDGYAVRAADGPGDRFIIGE
SQAGEQPTQTVMPGQVMRVTTGAPIPCGADAVVQVEDTELIRESDDGTEELEVRILVQ
ARPGQDIRPIGHDIKRGECVLAKGTHMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGN
ELLNPEDDLLPGKIRDSNRSTLLATIQEHGYPTINLGIVGDNPDDLLNALNEGISRAD
VIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVFMKPGLPTTFATLDIDGVRKIIFAL
PGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKARLSCDVKLDPRPEYHRCILTWHH
QEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYVELHKGEVVDVMVIGRL"
BASE COUNT 640 a 516 c 530 g 525 t
ORIGIN
1 atggcgaccg agggaatgat ccttactaac cacgaccatc aaatccgtgt cggagtcctt
61 acagtgagtg atagttgctt caggaatctt gcagaagacc gcagtgggat aaatctcaaa
121 gatctcgtac aagatccttc tttgttgggt gggactatat cagcatacaa gatagtacca
181 gatgaaatag aagaaatcaa ggaaaccctg atagattggt gtgatgaaaa ggaacttaat
241 ttgatattaa caactggagg aacaggattt gcaccacgag atgtcactcc agaggccaca
301 aaagaagtaa tagaacggga agcaccaggg atggccctgg caatgctgat gggatcactt
361 aatgttacac ctctgggcat gctctctagg cctgtatgtg gaatcagagg gaaaacgctc
421 ataattaacc tgccaggtag caagaaagga tctcaggaat gctttcaatt catactgcca
481 gctctacctc atgccattga ccttttacgt gatgccattg taaaagtaaa ggaggtgcat
541 gatgaacttg aagatttgcc ttccccacct ccccctcttt cccctcctcc tactaccagc
601 ccccataaac agacagaaga caaaggagtt caatgtgagg aagaggaaga agagaagaaa
661 gacagtggtg ttgcttcaac agaagatagt tcctcatcac atataactgc agcagccatt
721 gctgccaaga ttccagactc catcatttct cgtggtgttc aggtgctccc acgagacaca
781 gtctccctca gcactactcc ttcagaatcg cctcgtgctc aggctacatc tcgcctctct
841 acagcttcct gcccaacacc aaaagtccag tccaggtgca gcagcaagga gaacattctc
901 agagccagtc acagtgctgt cgatatcacc aaggtggcta gaagacatcg catgtctcct
961 tttcctctga catctatgga caaagccttt atcacagtcc tggagatgac tccggtgctt
1021 gggacagaaa tcatcaatta ccgagatgga atggggcgag tccttgctca agatgtatat
1081 gcaaaagaca atttaccccc cttcccagca tcagtaaaag atggctatgc tgtccgagct
1141 gctgatggcc caggagatcg tttcatcatt ggggaatccc aagctggtga acagccaact
1201 cagacagtaa tgccaggaca agtcatgcgg gttacaacag gtgctccaat accctgcggt
1261 gctgatgcag tagtacaagt ggaagatacc gaacttatca gggaatcaga tgatggcact
1321 gaagaacttg aagtgcgaat tctggtgcaa gctcggccag gccaagatat cagacccatc
1381 ggccatgaca ttaaaagagg ggaatgtgtt ttggccaaag gaacccacat gggcccctca
1441 gagattggtc ttctggcaac tgtaggtgtc acagaggttg aagttaataa gtttccagtg
1501 gttgcagtca tgtcaacagg gaatgagctg ctaaatcctg aagatgacct cttaccaggg
1561 aagattcgag acagcaatcg ttcaactctt ctagcaacaa ttcaggaaca tggttacccc
1621 acgatcaact tgggtattgt aggagacaac ccagatgact tactcaatgc cttgaatgag
1681 ggtatcagtc gtgctgatgt catcatcaca tcagggggtg tatccatggg ggaaaaggac
1741 tatctcaagc aggtgctgga cattgatctt catgctcaga tccattttgg cagggttttt
1801 atgaaaccag gcttgccaac aacatttgca actttggata ttgatggtgt aagaaaaata
1861 atctttgcac tacctgggaa tcctgtatcg gctgtggtca cctgcaatct ctttgttgtg
1921 cctgcactga ggaaaatgca gggcatcttg gatcctcggc caaccatcat caaagcaagg
1981 ttatcatgtg atgtaaaact tgatcctcgt ccagaatacc atcggtgtat actaacttgg
2041 catcaccaag aaccactacc ttgggcacag agtacaggta atcaaatgag cagccgtctg
2101 atgagcatgc gcagtgccaa tggattgttg atgctacctc caaagacaga acagtacgtg
2161 gagctccaca aaggcgaggt ggtggatgtc atggtcattg gacggctatg a
//