LOCUS CAB60832.1 458 aa PRT HUM 07-OCT-2008 DEFINITION Homo sapiens deafness locus associated putative guanine nucleotide exchange factor protein. ACCESSION AJ243950-1 PROTEIN_ID CAB60832.1 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 1431) AUTHORS Ponstingl H. JOURNAL Submitted (26-JUL-1999) to the INSDC. Ponstingl H., Molecular Biology of Mitosis, German Cancer Research Center, Im Neuenheimer Feld 280, D-69120 Heidelberg, GERMANY. REFERENCE 2 AUTHORS Uhlmann J., Wiemann S., Ponstingl H. TITLE DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness JOURNAL FEBS Lett. 460(1), 153-160(1999). PUBMED 10571079 COMMENT Related sequences: PAC clones AC004582, AC004736, AJ243951. FEATURES Qualifiers source /db_xref="H-InvDB:HIT000245560" /organism="Homo sapiens" /chromosome="11" /map="11p14" /mol_type="mRNA" /note="in a region critical for DFNB18 and Usher 1C" /db_xref="taxon:9606" protein /gene="DelGEF" /note="splice variant DelGEF1" /db_xref="GOA:Q9UGK8" /db_xref="H-InvDB:HIT000245560.13" /db_xref="HGNC:HGNC:17499" /db_xref="InterPro:IPR000408" /db_xref="InterPro:IPR009091" /db_xref="UniProtKB/Swiss-Prot:Q9UGK8" /experiment="experimental evidence, no additional details recorded" BEGIN 1 MEREPSASEA APAAAALFAW GANSYGQLGL GHKEDVLLPQ QLNDFCKPRS VRRITGGGGH 61 SAVVTDGGDL FVCGLNKDGQ LGLGHTEDIP YFTPCKSLFG CPIQQVACGW DFTIMLTENG 121 QVLSCGSNSF GQLGVPHGPR RCVVPQAIEL HKEKVVCIAA GLRHAVAATA SGIVFQWGTG 181 LASCGRRLCP GQTLPLFFTA KEPSRVTGLE NSKAMCVLAG SDHSASLTDA GEVYVWGSNK 241 HGQLANEAAF LPVPQKIEAH CFQNEKVTAI WSGWTHLVAQ TETGKMFTWG RADYGQLGRK 301 LETYEGWKLE KQDSFLPCSR PPNSMPSSPH CLTGATEVSC GSEHNLAIIG GVCYSWGWNE 361 HGMCGDGTEA NVWAPKPVQA LLSSSGLLVG CGAGHSLALC QLPAHPALVQ DPKVTYLSPD 421 AIEDTESQKA MDKERNWKER QSETSTQSQS DWSRNGGL //