LOCUS AJ272343 2360 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for gephyrin (GPHN gene).
ACCESSION AJ272343
VERSION AJ272343.1
KEYWORDS gephyrin; GPHN 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 2360)
AUTHORS David-Watine B.
JOURNAL Submitted (27-JUL-2000) to the INSDC. David-Watine B.,
Biotechnologies, INSERM U261 - Institut Pasteur, 25, rue du Dr.
Roux 75724 Paris Cedex 15, PARIS 75, FRANCE.
REFERENCE 2
AUTHORS David-Watine B.
TITLE The human gephyrin (GPHN) gene: structure, chromosome localization
and expression in non-neuronal cells
JOURNAL Gene 271(2), 239-245(2001).
PUBMED 11418245
FEATURES Location/Qualifiers
source 1..2360
/db_xref="H-InvDB:HIT000246257"
/organism="Homo sapiens"
/mol_type="mRNA"
/cell_line="HEK293"
/tissue_type="Kidney"
/note="alternative splice variant using the C3 exon as
defined in Prior et al. (1992)"
/db_xref="taxon:9606"
CDS 41..2350
/gene="GPHN"
/product="gephyrin"
/function="unknown"
/db_xref="GOA:Q9NQX3"
/db_xref="H-InvDB:HIT000246257.13"
/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"
/protein_id="CAC10537.1"
/translation="MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQ
DPSLLGGTISAYKIVPDEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKE
VIEREAPGMALAMLMGSLNVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILP
ALPHAIDLLRDAIVKVKEVHDELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEE
KKDSGVASTEDSSSSHITAAAIAAKKHPFYTSPAVVMAHGEQPIPGLINYSHHSTDER
IPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENILR
ASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDV
YAKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPI
PCGADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGT
HMGPSEIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLAT
IQEHGYPTINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLH
AQIHFGRVFMKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGI
LDPRPTIIKARLSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSAN
GLLMLPPKTEQYVELHKGEVVDVMVIGRL"
BASE COUNT 673 a 564 c 563 g 560 t
ORIGIN
1 tctcccggct cctgtcagtg cggtgactgc gctgggaaac atggcgaccg agggaatgat
61 ccttactaac cacgaccatc aaatccgtgt cggagtcctt acagtgagtg atagttgctt
121 caggaatctt gcagaagacc gcagtgggat aaatctcaaa gatctcgtac aagatccttc
181 tttgttgggt gggactatat cagcatacaa gatagtacca gatgaaatag aagaaatcaa
241 ggaaaccctg atagattggt gtgatgaaaa ggaacttaat ttgatattaa caactggagg
301 aacaggattt gcaccacgag atgtcactcc agaggccaca aaagaagtaa tagaacggga
361 agcaccaggg atggccctgg caatgctgat gggatcactt aatgttacac ctctgggcat
421 gctctctagg cctgtatgtg gaatcagagg gaaaacgctc ataattaacc tgccaggtag
481 caagaaagga tctcaggaat gctttcaatt catactgcca gctctacctc atgccattga
541 ccttttacgt gatgccattg taaaagtaaa ggaggtgcat gatgaacttg aagatttgcc
601 ttccccacct ccccctcttt cccctcctcc tactaccagc ccccataaac agacagaaga
661 caaaggagtt caatgtgagg aagaggaaga agagaagaaa gacagtggtg ttgcttcaac
721 agaagatagt tcctcatcac atataactgc agcagccatt gctgccaaga agcatccatt
781 ctacaccagt cctgctgttg tcatggcaca cggtgaacag cccatccctg gtctcatcaa
841 ttattcccat cattcaacag atgaacggat tccagactcc atcatttctc gtggtgttca
901 ggtgctccca cgagacacag cctccctcag cactactcct tcagaatcgc ctcgtgctca
961 ggctacatct cgcctctcta cagcttcctg cccaacacca aaagtccagt ccaggtgcag
1021 cagcaaggag aacattctca gagccagtca cagtgctgtc gatatcacca aggtggctag
1081 aagacatcgc atgtctcctt ttcctctgac atctatggac aaagccttta tcacagtcct
1141 ggagatgact ccggtgcttg ggacagaaat catcaattac cgagatggaa tggggcgagt
1201 ccttgctcaa gatgtatatg caaaagacaa tttacccccc ttcccagcat cagtaaaaga
1261 tggctatgct gtccgagctg ctgatggccc aggagatcgt ttcatcattg gggaatccca
1321 agctggtgaa cagccaactc agacagtaat gccaggacaa gtcatgcggg ttacaacagg
1381 tgctccaata ccctgcggtg ctgatgcagt agtacaagtg gaagataccg aacttatcag
1441 ggaatcagat gatggcactg aagaacttga agtgcgaatt ctggtgcaag ctcggccagg
1501 ccaagatatc agacccatcg gccatgacat taaaagaggg gaatgtgttt tggccaaagg
1561 aacccacatg ggcccctcag agattggtct tctggcaact gtaggtgtca cagaggttga
1621 agttaataag tttccagtgg ttgcagtcat gtcaacaggg aatgagctgc taaatcctga
1681 agatgacctc ttaccaggga agattcgaga cagcaatcgt tcaactcttc tagcaacaat
1741 tcaggaacat ggttacccca cgatcaactt gggtattgta ggagacaacc cagatgactt
1801 actcaatgcc ttgaatgagg gtatcagtcg tgctgatgtc atcatcacat cagggggtgt
1861 atccatgggg gaaaaggact atctcaagca ggtgctggac attgatcttc atgctcagat
1921 ccattttggc agggttttta tgaaaccagg cttgccaaca acatttgcaa ctttggatat
1981 tgatggtgta agaaaaataa tctttgcact acctgggaat cctgtatcgg ctgtggtcac
2041 ctgcaatctc tttgttgtgc ctgcactgag gaaaatgcag ggcatcttgg atcctcggcc
2101 aaccatcatc aaagcaaggt tatcatgtga tgtaaaactt gatcctcgtc cagaatacca
2161 tcggtgtata ctaacttggc atcaccaaga accactacct tgggcacaga gtacaggtaa
2221 tcaaatgagc agccgtctga tgagcatgcg cagtgccaat ggattgttga tgctacctcc
2281 aaagacagaa cagtacgtgg agctccacaa aggcgaggtg gtggatgtca tggtcattgg
2341 acggctatga tggtcaccag
//