LOCUS       NM_173543               3492 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens DAZ interacting zinc finger protein 1 like (DZIP1L),
            transcript variant 1, mRNA.
ACCESSION   NM_173543
VERSION     NM_173543.3
KEYWORDS    RefSeq; MANE Select.
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 3492)
  AUTHORS   Hertz,J.M., Svenningsen,P., Dimke,H., Engelund,M.B., Norgaard,H.,
            Hansen,A., Marcussen,N., Thiesson,H.C., Bergmann,C. and Larsen,M.J.
  TITLE     Detection of DZIP1L mutations by whole-exome sequencing in
            consanguineous families with polycystic kidney disease
  JOURNAL   Pediatr Nephrol 37 (11), 2657-2665 (2022)
   PUBMED   35211789
  REMARK    GeneRIF: Detection of DZIP1L mutations by whole-exome sequencing in
            consanguineous families with polycystic kidney disease.
REFERENCE   2  (bases 1 to 3492)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3492)
  AUTHORS   Ma,M.
  TITLE     Cilia and polycystic kidney disease
  JOURNAL   Semin Cell Dev Biol 110, 139-148 (2021)
   PUBMED   32475690
  REMARK    GeneRIF: Cilia and polycystic kidney disease.
            Review article
REFERENCE   4  (bases 1 to 3492)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3492)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3492)
  AUTHORS   Wang,C., Li,J., Takemaru,K.I., Jiang,X., Xu,G. and Wang,B.
  TITLE     Centrosomal protein Dzip1l binds Cby, promotes ciliary bud
            formation, and acts redundantly with Bromi to regulate ciliogenesis
            in the mouse
  JOURNAL   Development 145 (6) (2018)
   PUBMED   29487109
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3492)
  AUTHORS   Hartung,E.A. and Guay-Woodford,L.M.
  TITLE     Polycystic kidney disease: DZIP1L defines a new functional zip code
            for autosomal recessive PKD
  JOURNAL   Nat Rev Nephrol 13 (9), 519-520 (2017)
   PUBMED   28736432
  REMARK    GeneRIF: DZIP1L plays a role in the pathogenesis of autosomal
            recessive polycystic kidney disease through impact on the ciliary
            transition zone.
REFERENCE   8  (bases 1 to 3492)
  AUTHORS   Lu,H., Galeano,M.C.R., Ott,E., Kaeslin,G., Kausalya,P.J.,
            Kramer,C., Ortiz-Bruchle,N., Hilger,N., Metzis,V., Hiersche,M.,
            Tay,S.Y., Tunningley,R., Vij,S., Courtney,A.D., Whittle,B.,
            Wuhl,E., Vester,U., Hartleben,B., Neuber,S., Frank,V., Little,M.H.,
            Epting,D., Papathanasiou,P., Perkins,A.C., Wright,G.D.,
            Hunziker,W., Gee,H.Y., Otto,E.A., Zerres,K., Hildebrandt,F.,
            Roy,S., Wicking,C. and Bergmann,C.
  TITLE     Mutations in DZIP1L, which encodes a ciliary-transition-zone
            protein, cause autosomal recessive polycystic kidney disease
  JOURNAL   Nat Genet 49 (7), 1025-1034 (2017)
   PUBMED   28530676
  REMARK    GeneRIF: Mutations in DZIP1L were characterized in patients with
            ARPKD.  The ciliary-membrane translocation of the PKD proteins
            polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant
            cells. This is the first conclusive evidence that ARPKD is not a
            homogeneous disorder and further establishes DZIP1L as a second
            gene involved in ARPKD pathogenesis.
REFERENCE   9  (bases 1 to 3492)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3492)
  AUTHORS   Glazer,A.M., Wilkinson,A.W., Backer,C.B., Lapan,S.W., Gutzman,J.H.,
            Cheeseman,I.M. and Reddien,P.W.
  TITLE     The Zn finger protein Iguana impacts Hedgehog signaling by
            promoting ciliogenesis
  JOURNAL   Dev Biol 337 (1), 148-156 (2010)
   PUBMED   19852954
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC033308.1, BQ424578.1 and DR001616.1.
            
            On Nov 22, 2018 this sequence version replaced NM_173543.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033308.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327532.7/ ENSP00000332148.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1947              BC033308.1         2-1948
            1948-1948           BQ424578.1         396-396
            1949-1994           BC033308.1         1950-1995
            1995-2140           DR001616.1         223-368
            2141-3492           BC033308.1         2142-3493
FEATURES             Location/Qualifiers
     source          1..3492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..3492
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /note="DAZ interacting zinc finger protein 1 like"
                     /db_xref="GeneID:199221"
                     /db_xref="HGNC:HGNC:26551"
                     /db_xref="MIM:617570"
     exon            1..281
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            282..863
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             363..2666
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /note="isoform 1 is encoded by transcript variant 1; zinc
                     finger protein DZIP1L; DAZ-interacting protein 1-like
                     protein; DAZ interacting protein 1-like; cilium assembly
                     protein DZIP1L"
                     /codon_start=1
                     /product="cilium assembly protein DZIP1L isoform 1"
                     /protein_id="NP_775814.2"
                     /db_xref="CCDS:CCDS3096.1"
                     /db_xref="GeneID:199221"
                     /db_xref="HGNC:HGNC:26551"
                     /db_xref="MIM:617570"
                     /translation="MQSPAATAEGLSGPLFGAYTFPTFKFQPRHDSMDWRRISTLDVD
                     RVARELDVATLQENIAGITFCNLDREVCSRCGQPVDPALLKVLRLAQLIIEYLLHCQD
                     CLSASVAQLEARLQTSLGQQQRGQQELGRQADELKGVREESRRRRKMISTLQQLLMQT
                     GTHSYHTCHLCDKTFMNATFLRGHIQRRHAGVAEGGKQKKQEQPVEEVLEELRAKLKW
                     TQGELEAQREAERQRQLQEAELIHQREIEAKKEFDKWKEQEWTKLYGEIDKLKKLFWD
                     EFKNVAKQNSTLEEKLRALQSHSVMESKLGSLRDEESEEWLRQARELQALREKTEIQK
                     TEWKRKVKELHEEHMAEKKELQEENQRLQASLSQDQKKAAAQSQCQISTLRAQLQEQA
                     RIIASQEEMIQSLSLRKVEGIHKVPKAVDTEEDSPEEEMEDSQDEQHKVLAALRRNPT
                     LLKHFRPILEDTLEEKLESMGIRKDAKGISIQTLRHLESLLRVQREQKARKFSEFLSL
                     RGKLVKEVTSRAKERQENGAVVSQPDGQPSVKSQQSTLVTREAQPKTRTLQVALPSTP
                     AEPPPPTRQSHGSHGSSLTQVSAPAPRPGLHGPSSTPPSSGPGMSTPPFSSEEDSEGD
                     RVQRVSLQPPKVPSRMVPRPKDDWDWSDTETSEENAQPPGQGSGTLVQSMVKNLEKQL
                     EAPAKKPAGGVSLFFMPNAGPQRAATPGRKPQLSEDESDLEISSLEDLPLDLDQREKP
                     KPLSRSKLPEKFGTGPQSSGQPRVPAW"
     exon            864..948
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1070
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1232
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1361
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1424
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1565
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1596
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1650
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1784
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1977
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1978..2194
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2195..2364
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2365..2504
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2505..3492
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3472..3477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /note="hexamer: AATATA"
     polyA_site      3492
                     /gene="DZIP1L"
                     /gene_synonym="DZIP2; PKD5"
                     /note="major polyA site"
ORIGIN      
        1 aagccacgag ctgaccgacg caccgaggag ctctctgtcc gcggtcccgc aggttggcgg
       61 cactggagtg ggccgggcag gctctgcctc cgccgcagag agcgcccgga ctgcgtgggg
      121 ctggggaagc atcccgggaa cggcgggcgg tgagcattcc gggaaccatc tctgggctgt
      181 ctggggcggt ggagcaagtc tggaggcggg acgtggggcg agtatgggag ccgccacctc
      241 gagacgtctt cccgccgtcc ccggctccag gagaccccac ggccttctct cagctccttg
      301 gcctactgcc gtggccttgg tgcccccctc ctctggtggt cagctcaggg cttcctctgc
      361 ccatgcagtc cccagctgcc actgctgagg gcctcagtgg ccccctcttt ggggcctaca
      421 cgttccccac cttcaagttt cagcctcgcc atgatagcat ggactggaga cgcattagca
      481 ccctggatgt agaccgcgtg gcccgggaac tggatgtggc cactctgcag gagaatattg
      541 ctggcatcac cttctgcaac ttggaccggg aggtgtgcag ccgctgtggg cagcctgtgg
      601 acccggcact gctcaaggtg ctgcgcctgg cgcagctcat cattgagtac ctgctgcact
      661 gccaggattg cctgagtgcc agtgttgccc agctggaggc acggctgcag accagcctgg
      721 gccagcagca gcgtggtcag caggagctgg gacgccaggc tgacgagctc aagggtgtgc
      781 gggaggagag ccgccggcgt cgcaagatga tcagcaccct gcagcagctg ctaatgcaga
      841 caggcaccca cagctaccac acgtgccacc tgtgtgacaa gacattcatg aatgccacct
      901 ttctccgggg ccacatccag cgcaggcatg caggcgtggc agaaggtgga aaacagaaga
      961 aacaggaaca gccagtggaa gaggtgttag aagagctacg ggccaagcta aagtggaccc
     1021 aaggggagct ggaagcccag agggaggcgg agaggcagcg gcagctccag gaagcagagc
     1081 tcattcatca gagggaaata gaagctaaga aagaatttga taaatggaaa gagcaagagt
     1141 ggaccaaact ttatggggaa atagataaac taaaaaaatt attttgggat gaatttaaaa
     1201 atgtcgccaa gcagaactct acactagaag agaaactgcg ggcactgcag tcccacagtg
     1261 tgatggagtc caagctggga tcactgcgag atgaggagtc agaggagtgg cttcggcagg
     1321 cacgggagct tcaggccctg agagagaaga cagaaattca gaaaacggag tggaaaagaa
     1381 aagtgaagga actgcatgaa gagcacatgg ctgagaagaa agagctacag gaggagaacc
     1441 agaggctcca ggcctccctg tctcaggatc agaagaaggc agctgcccag tcccagtgcc
     1501 agatcagcac cctccgtgcc cagctgcagg aacaagctag gatcattgcc tcccaggagg
     1561 agatgatcca gtccttgtct ctcaggaagg tggaagggat ccacaaggtg ccaaaggctg
     1621 tggacacaga ggaggactct ccagaggaag agatggagga ctcccaggat gaacagcaca
     1681 aggtgctggc agctctgagg cgtaacccca ctttgctgaa gcacttcaga ccaatcctgg
     1741 aggacaccct ggaagagaag ctcgaaagca tggggataag gaaggatgca aagggaatct
     1801 cgattcagac tctcagacac ctggaatccc tgctgagagt ccagcgggag cagaaggccc
     1861 ggaagttttc tgaatttctg agtctgaggg gaaagcttgt caaggaagtc accagcagag
     1921 cgaaggagag acaggagaat ggcgctgtgg tgtcccagcc agacgggcag ccttcagtca
     1981 aaagccagca gagcacactg gtcaccagag aggcccagcc aaagaccagg accctgcagg
     2041 tggccttgcc atccacaccg gcagagccac ccccaccaac tcgtcagagc catggcagcc
     2101 atggctccag cctgacccag gtgtccgccc ccgctccacg ccccggactg catggaccct
     2161 ccagcacccc tccttcctcg gggcccggga tgagcacgcc cccgttcagt tctgaagagg
     2221 actcagaggg agaccgtgtg cagcgtgtgt ctctacagcc cccaaaagtt ccttccagga
     2281 tggtgccccg gcccaaggat gactgggact ggtctgacac agagacctcg gaggagaatg
     2341 cccagccccc tggccagggc tcaggaacac tggtgcagtc gatggtcaaa aacctggaga
     2401 agcagctaga agctccagca aagaagcctg ctggaggggt cagtctgttt tttatgccca
     2461 atgctgggcc acagagggct gccacaccag gaaggaagcc tcagctttct gaagatgaga
     2521 gtgacttgga gatctcctcc ttggaagatc ttcctctgga cctggaccag agagagaaac
     2581 ccaagccctt gtctcgctca aagctcccag agaagtttgg cactggtcca cagagctctg
     2641 gccaacccag ggtccctgcc tggtgattca ccccagaagc tagctggcta gagggttagc
     2701 ctggctgggg ccagctcagg tccacttcaa cagaagaggc tgctgggcct cttgtcttca
     2761 caaacaacca agagatcatc ctcttggaga gaagcagtgc agggaatgga tatgatctca
     2821 tccctcctga cctgtgaggg gccctgctgt agatggccac aggtgcctga ctaggagccc
     2881 ctaggtcccc aggcttgaga aagggttaaa atagaacctc caggtagttt tcttcctcta
     2941 cctccacatc cccccaagac tgaaaagagt cactaactct cttttcccaa gccttttata
     3001 aaactgcagg aacactgtgg agatggttcc tatctggggt ccttttgggg acatatgcct
     3061 cagtcagtca ttcagtgatt gatccaaaat tatttactga gtgcctacct actctgcgcc
     3121 aggctctcta gcctctcact actgagttag ggtgcaggca gaggctgggg cagaatgttt
     3181 acagccagtg ccagcacaag gtagtaatct agtgacagag aacagggtgt tatggggagc
     3241 atatgagagg ccatctatcc cagcctgggt gatcctggag agtttcccag ggttgtgata
     3301 tgtggcaggc ctactcatgg gtgggaaggg aggatggcca cttggctgga ccttgtatcc
     3361 ccaaaggacc acacgtgtaa tttttgatat tatttccaaa atcaggtttt atacatagcc
     3421 attgtatatt tttagtgtga aaaacattaa tatattatat gcaaacattt aaatatagta
     3481 caatgttttt aa
//
