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
//