LOCUS AAC51771.1 731 aa PRT HUM 24-JUL-2016 DEFINITION Homo sapiens nephrocystin protein. ACCESSION AF023674-1 PROTEIN_ID AAC51771.1 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 3677) AUTHORS Hildebrandt,F., Otto,E., Rensing,C., Nothwang,H.G., Vollmer,M., Adolphs,J., Hanusch,H. and Brandis,M. TITLE A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 JOURNAL Nat. Genet. 17 (2), 149-153 (1997) PUBMED 9326933 REFERENCE 2 (bases 1 to 3677) AUTHORS Hildebrandt,F., Otto,E., Rensing,C., Nothwang,H.G., Vollmer,M., Adolphs,J., Hanusch,H. and Brandis,M. TITLE Direct Submission JOURNAL Submitted (04-AUG-1997) University Children's Hospital, Freiburg University, Mathildenstrasse 1, Freiburg D-79106, Germany FEATURES Qualifiers source /db_xref="H-InvDB:HIT000062720" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q13" protein /gene="NPHP1" /note="mutated in juvenile nephronophthisis 1" BEGIN 1 ARRQRDPLQA LRRRNQELKQ QVDSLLSESQ LKEALEPNKR QHIYQRCIQL KQAIDENKNA 61 LQKLSKADES APVANYNQRK EEEHTLLDKL TQQLQGLAVT ISRENITEVG APTEEEEESE 121 SEDSEDSGGE EEDAEEEEEE KEENESHKWS TGEEYIAVGD FTAQQVGDLT FKKGEILLVI 181 EKKPDGWWIA KDAKGNEGLV PRTYLEPYSE EEEGQESSEE GSEEDVEAVD ETADGAEVKQ 241 RTDPHWSAVQ KAISEAGIFC LVNHVSFCYL IVLMRNRMET VEDTNGSETG FRAWNVQSRG 301 RIFLVSKPVL QQINTVDVLT TMGAIPAGFR PSTLSQLLEE GNQFRANYFL QPELMPSQLA 361 FRDLMWDATE GTIRSRPSRI SLILTLWSCK MIPLPGMSIQ VLSRHVRLCL FDGNKVLSNI 421 HTVRATWQPK KPKTWTFSPQ VTRILPCLLD GDCFIRSNSA SPDLGILFEL GISYIRNSTG 481 ERGELSCGWV FLKLFDASGV PIPAKTYELF LNGGTPYEKG IEVDPSISRR AHGSVFYQIM 541 TMRRQPQLLV KLRSLNRRSR NVLSLLPETL IGNMCSIHLL IFYRQILGDV LLKDRMSLQS 601 TDLISHPMLA TFPMLLEQPD VMDALRSSWA GKESTLKRSE KRDKEFLKST FLLVYHDCVL 661 PLLHSTRLPP FRWAEEETET ARWKVITDFL KQNQENQGAL QALLSPDGVH EPFDLSEQTY 721 DFLGEMRKNA V //