LOCUS       NM_014425               4897 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens inversin (INVS), transcript variant 1, mRNA.
ACCESSION   NM_014425
VERSION     NM_014425.5
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 4897)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 4897)
  AUTHORS   Wu,Q., Yang,S., Wang,C., Shi,H., Ren,S., Jiao,Z. and Kong,X.
  TITLE     [Ultrasonographic manifestation and genetic analysis of a fetus
            with nephronophthisis type 2]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (5), 559-562 (2020)
   PUBMED   32335886
  REMARK    GeneRIF: fetus diagnosed with type II nephronophthisis had a
            heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS
            gene
REFERENCE   3  (bases 1 to 4897)
  AUTHORS   Bennett,H.W., Gustavsson,A.K., Bayas,C.A., Petrov,P.N., Mooney,N.,
            Moerner,W.E. and Jackson,P.K.
  TITLE     Novel fibrillar structure in the inversin compartment of primary
            cilia revealed by 3D single-molecule superresolution microscopy
  JOURNAL   Mol Biol Cell 31 (7), 619-639 (2020)
   PUBMED   31895004
  REMARK    GeneRIF: Novel fibrillar structure in the inversin compartment of
            primary cilia revealed by 3D single-molecule superresolution
            microscopy.
REFERENCE   4  (bases 1 to 4897)
  AUTHORS   Zhang,B., Zhuang,T., Lin,Q., Yang,B., Xu,X., Xin,G., Zhu,S.,
            Wang,G., Yu,B., Zhang,T., Jiang,Q. and Zhang,C.
  TITLE     Patched1-ArhGAP36-PKA-Inversin axis determines the ciliary
            translocation of Smoothened for Sonic Hedgehog pathway activation
  JOURNAL   Proc Natl Acad Sci U S A 116 (3), 874-879 (2019)
   PUBMED   30598432
  REMARK    GeneRIF: Inversin required for ciliary translocation of Smo and
            activation of the Shh pathway; Shh signaling promotes inversin
            phosphorylation by PKA and inversin-Smo interaction
REFERENCE   5  (bases 1 to 4897)
  AUTHORS   Morgan,D., Goodship,J., Essner,J.J., Vogan,K.J., Turnpenny,L.,
            Yost,H.J., Tabin,C.J. and Strachan,T.
  TITLE     The left-right determinant inversin has highly conserved ankyrin
            repeat and IQ domains and interacts with calmodulin
  JOURNAL   Hum Genet 110 (4), 377-384 (2002)
   PUBMED   11941489
  REMARK    GeneRIF: has conserved ankyrin repeat and IQ domains and interacts
            with calmodulin
REFERENCE   6  (bases 1 to 4897)
  AUTHORS   Schon,P., Tsuchiya,K., Lenoir,D., Mochizuki,T., Guichard,C.,
            Takai,S., Maiti,A.K., Nihei,H., Weil,J., Yokoyama,T. and
            Bouvagnet,P.
  TITLE     Identification, genomic organization, chromosomal mapping and
            mutation analysis of the human INV gene, the ortholog of a murine
            gene implicated in left-right axis development and biliary atresia
  JOURNAL   Hum Genet 110 (2), 157-165 (2002)
   PUBMED   11935322
REFERENCE   7  (bases 1 to 4897)
  AUTHORS   Haider,N.B., Carmi,R., Shalev,H., Sheffield,V.C. and Landau,D.
  TITLE     A Bedouin kindred with infantile nephronophthisis demonstrates
            linkage to chromosome 9 by homozygosity mapping
  JOURNAL   Am J Hum Genet 63 (5), 1404-1410 (1998)
   PUBMED   9792867
REFERENCE   8  (bases 1 to 4897)
  AUTHORS   Yokoyama,T., Copeland,N.G., Jenkins,N.A., Montgomery,C.A.,
            Elder,F.F. and Overbeek,P.A.
  TITLE     Reversal of left-right asymmetry: a situs inversus mutation
  JOURNAL   Science 260 (5108), 679-682 (1993)
   PUBMED   8480178
REFERENCE   9  (bases 1 to 4897)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   10 (bases 1 to 4897)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB217652.1, BC111761.1,
            AL356798.18, BC063847.1 and AL445214.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014425.4.
            
            Summary: This gene encodes a protein containing multiple ankyrin
            domains and two IQ calmodulin-binding domains. The encoded protein
            may function in renal tubular development and function, and in
            left-right axis determination. This protein interacts with
            nephrocystin and infers a connection between primary cilia function
            and left-right axis determination. A similar protein in mice
            interacts with calmodulin. Mutations in this gene have been
            associated with nephronophthisis type 2. Multiple transcript
            variants encoding distinct isoforms have been identified for this
            gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AF039217.2, BC111761.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262457.7/ ENSP00000262457.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               DB217652.1         59-217
            160-1656            BC111761.1         1-1497
            1657-1657           AL356798.18        74442-74442
            1658-2609           BC111761.1         1499-2450
            2610-2610           AL356798.18        113980-113980
            2611-3823           BC111761.1         2452-3664
            3824-3862           BC063847.1         3900-3938
            3863-4593           AL445214.7         6384-7114
            4594-4897           BC063847.1         4664-4967
FEATURES             Location/Qualifiers
     source          1..4897
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..4897
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /note="inversin"
                     /db_xref="GeneID:27130"
                     /db_xref="HGNC:HGNC:17870"
                     /db_xref="MIM:243305"
     exon            1..174
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            175..304
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..3396
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /note="isoform a is encoded by transcript variant 1;
                     inversion of embryonic turning; nephrocystin-2; inversion
                     of embryo turning homolog"
                     /codon_start=1
                     /product="inversin isoform a"
                     /protein_id="NP_055240.2"
                     /db_xref="CCDS:CCDS6746.1"
                     /db_xref="GeneID:27130"
                     /db_xref="HGNC:HGNC:17870"
                     /db_xref="MIM:243305"
                     /translation="MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKE
                     DQFGRTPLMYCVLADRLDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLT
                     RRANWMQKDLEEMTPLHLTTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYN
                     NPEHVKLLIKHDSNIGIPDVEGKIPLHWAANHKDPSAVHTVRCILDAAPTESLLNWQD
                     YEGRTPLHFAVADGNVTVVDVLTSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLE
                     RNKSGTIPSDSQGATPLHYAAQSNFAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGS
                     DDVLRTMLSLKSDIDINMADKYGGTALHAAALSGHVSTVKLLLENNAQVDATDVMKHT
                     PLFRACEMGHKDVIQTLIKGGARVDLVDQDGHSLLHWAALGGNADVCQILIENKINPN
                     VQDYAGRTPLQCAAYGGYINCMAVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLL
                     LDFAAFPNQMENNEERYTPLDYALLGERHEVIQFMLEHGALSIAAIQDIAAFKIQAVY
                     KGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEENKRKEAEQQKGRRSPDSCRPQALP
                     CLPSTQDVPSRQSRAPSKQPPAGNVAQGPEPRDSRGSPGGSLGGALQKEQHVSSDLQG
                     TNSRRPNETAREHSKGQSACVHFRPNEGSDGSRHPGVPSVEKSRGETAGDERCAKGKG
                     FVKQPSCIRVAGPDEKGEDSRRAAASLPPHDSHWKPSRRHDTEPKAKCAPQKRRTQEL
                     RGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKLTGGLYSHLPQSTEELR
                     SGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRLQIIQRERRRKELFR
                     KKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTALLLQVWRKELELK
                     FPQTTAVSKAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSVKASSVLRLNS
                     VSNLQCIHLLENSGRSKNFSYNLQSATQPKNKTKP"
     exon            305..471
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            472..645
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            646..813
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            814..994
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1104
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1276
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1432
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1662
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1769
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1982
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..2266
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2984
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2985..3214
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3215..3289
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     exon            3290..4897
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3719
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /note="major polyA site"
     regulatory      4877..4882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /note="hexamer: AATAAA"
     polyA_site      4897
                     /gene="INVS"
                     /gene_synonym="INV; NPH2; NPHP2"
                     /note="major polyA site"
ORIGIN      
        1 agaaggatgt gcggccgaaa gcctcgggcg gccttttgag gggctcggct agcttcagcg
       61 ccgtggggtc tgacctggct ggatatagtg taccggcccg gcaggagggg cggcccggtc
      121 cgggttgcgc ctcctggagc cgcccccggg acgtcagtcc tggaggaggc gagggttgct
      181 ccggttgcta agaagactat gaacaagtca gagaacctgc tgtttgctgg ttcatcatta
      241 gcatcacaag tccatgctgc tgccgttaat ggagataagg gtgctctaca gaggctcatc
      301 gtaggaaact ctgctcttaa agacaaagaa gatcagtttg ggagaacacc acttatgtat
      361 tgcgtgttgg ctgacagatt ggattgtgca gatgctcttc tgaaggcagg agcagatgtg
      421 aataaaactg accatagcca gagaacagcc ctccatcttg cagcccagaa gggaaattat
      481 cgtttcatga aactcttact tacacgcaga gcaaactgga tgcaaaagga tctggaagag
      541 atgactcctt tgcacttgac cacccggcac aggagcccta agtgtttggc acttctgctg
      601 aagtttatgg caccaggaga agtggataca caggataaaa acaagcaaac agctctgcat
      661 tggagtgcct actacaataa ccctgagcat gtgaagctgc tcatcaagca tgattctaac
      721 attgggattc ctgatgttga aggcaagatc ccacttcact gggcagccaa ccataaagat
      781 ccaagtgctg ttcacacagt gagatgcatt ctggatgctg ctccaacaga gtctttactg
      841 aactggcaag actacgaggg tcgaactcct cttcactttg cagttgctga tgggaatgtg
      901 accgtggttg atgtcttgac ctcatatgaa agctgcaata taacgtctta tgataactta
      961 tttcgaaccc cactgcactg ggcagcttta ttaggccatg cacagattgt ccatctcctt
     1021 ttagaaagaa ataagtctgg aactatccca tctgacagcc aaggagccac acctttgcac
     1081 tatgctgctc agagtaactt tgctgaaacg gttaaagtgt ttttaaaaca tccttcagtg
     1141 aaagatgatt cagacctgga aggaagaaca tcctttatgt gggcagctgg caaaggcagt
     1201 gatgatgtcc ttagaactat gctgagctta aaatcggaca tagatattaa catggctgac
     1261 aaatatggag gtacagcttt gcatgctgct gctctttctg gccatgtcag caccgtgaag
     1321 ttattactgg aaaataatgc tcaagtagat gctactgatg ttatgaaaca tactccactt
     1381 ttccgagcct gtgagatggg acacaaagat gtgattcaga cactcattaa aggtggagca
     1441 agggtagatc tagttgacca agatggacat tctcttctac attgggcagc actgggagga
     1501 aatgctgatg tttgccagat attaatagaa aataagatca atccaaatgt ccaggattat
     1561 gcaggaagaa cccctttgca gtgtgcagca tatggaggct atatcaactg catggcagtt
     1621 ctcatggaaa acaatgcaga ccctaacatt caagacaaag agggaagaac agctttgcat
     1681 tggtcctgca acaatggata ccttgatgcc attaaattac tgctagactt tgctgctttc
     1741 cctaatcaga tggaaaacaa tgaagagaga tacacacccc ttgattatgc tttgcttggt
     1801 gagcgccatg aagtgatcca gttcatgttg gagcacggtg ccctgtccat cgcagccata
     1861 caagacatcg ccgccttcaa aatccaagct gtctacaaag ggtacaaggt cagaaaagcc
     1921 ttccgagaca ggaaaaatct cctcatgaag catgaacagt tgagaaaaga tgctgctgcc
     1981 aaaaagcgag aggaagaaaa caaacgaaaa gaggcagaac agcaaaaagg aaggcggagc
     2041 ccagattcct gcagacccca ggcccttccc tgtctgccta gcacccagga tgtgcccagc
     2101 aggcagagcc gggcccccag caagcagcct cctgctggca acgtggccca aggccctgag
     2161 ccaagagaca gcagaggatc tccaggaggg tctctaggcg gagccctcca gaaggagcag
     2221 catgtttcct cagatttgca gggaacaaac tccagaaggc caaatgaaac agccagagaa
     2281 cattctaaag gccaatctgc ttgtgtccac ttcagaccca atgaaggcag tgatggaagc
     2341 aggcatccag gagttccctc tgttgagaag tccagaggtg agacagctgg cgatgagcgg
     2401 tgtgcaaagg ggaaaggctt cgtgaagcag ccctcctgta tcagggtggc tgggcctgat
     2461 gagaaaggag aggactccag gcgggcagct gcaagccttc caccgcacga tagccactgg
     2521 aagcccagca ggcggcatga cacagaaccc aaggccaaat gtgcccccca gaaaaggcgc
     2581 actcaagagc tcagaggagg aaggtgctct ccggctggtt ctagccgccc tggcagtgcc
     2641 cggggggagg cggtccatgc tgggcagaat cctccccacc atcgtacacc aagaaacaaa
     2701 gtgacacaag ccaagctcac aggagggctc tattcacatt tgccacagag cacagaggag
     2761 ttgaggtcag gagctaggag gctggagaca tctaccctgt ccgaggactt tcaggtatct
     2821 aaggagactg atccagcacc tggtcccctc tctgggcaga gtgtgaatat tgaccttctc
     2881 cccgtagagc tccgactgca gataattcag agagaacgaa ggaggaagga gctgtttcgc
     2941 aaaaagaaca aggcagcagc agtcatccag cgcgcctggc gaagctacca gctcaggaag
     3001 cacctgtccc accttcggca tatgaagcag cttggagctg gagatgtgga cagatggagg
     3061 caagagtcta cagcattgct cctccaggtt tggaggaagg aactggaact aaaattcccc
     3121 caaaccactg cagtaagcaa ggcccccaag agtccatcca agggcacctc aggcacaaag
     3181 tccaccaagc actcagtgct taagcaaatc tatggttgtt ctcacgaagg gaaaatacat
     3241 catcctacaa gatctgtaaa agcctcttct gtgctgcgtc tcaactcagt gagcaaccta
     3301 cagtgtatac atctccttga gaacagtgga agatcaaaga acttttctta taacctgcaa
     3361 tcagctactc agccaaaaaa caaaacaaaa ccttgactgc ctatggagga agactgtgtt
     3421 cgggggagct ggcatagcta gtgcagagtt cagattttct gctgataatc ttttacacct
     3481 tgggaaaact ttaatatccg tacctgaagg ctgattcacc taaaaatgtg ttaactgaaa
     3541 gaaaatgtca gaatgtttcc tttctgctct tacacagcat tgttttgtca atcaacacag
     3601 cctgcactga aaggacctgc atagactatg tctgtgcaaa gtgcctgagt gtctgctttc
     3661 acctcagtct gtacagttgg aaatgagaat tcataattaa cagcaaaatc taaggaaaac
     3721 tacggctgct gggttgggat ttctgccagc tagctggtac tggcttcttg tttcaagaga
     3781 tgaacctaaa tgagatagga agcctgtccc atagcagcct tcctctcact actttcctgg
     3841 catctaatgc aacaaactta tcacacacac acacacacac acacacacac acacacacac
     3901 atatcacgtc ccactattac ttcaaaatta atcaggttta aattttagat cagaatcatt
     3961 gcccactgtt ttcatttaga aattgtccaa aagaccatag atacattctg gtgattcctt
     4021 acattttaca gttcctacgt tagcctctca aggccacaag ttgccgccac gtcttcactg
     4081 aatggctttc tcagtgctga ataccaacag ccgtattaca gtatcaagga ttctgtcagg
     4141 tagggtttac agaccagact gttcatgcag caaggtgcta actcaggcgt caacgttcta
     4201 cttgtatttt ctgaccaact tgcagaagtg agcaatcttc ttaaaatgcc atttctgttg
     4261 gcagggaaga atgaaacggc acacatccta gcattctaag aacacctggt ttaaataaaa
     4321 tccagtgatg atgggctctt tcacattgtt taaggggaaa gctgctgtga gaatattgac
     4381 agtaggcata aacagtgata tattttactc acaggtattt tgggggttgc tttcattttc
     4441 ttcagatcag tgccacttct gtgctaacgg taagagatag acagataggc aatgaagtgt
     4501 tcacttaatt accttggttt ttagtttact aattattaca ttcatcgttt ttgtgatcac
     4561 aaaaacacaa agaaggaggt ctgcctggat ggaattacaa agatttagcc agtttcttgg
     4621 tatataacag aaggtaccac agtatcactc tctattttgt aaatatttag ctcctatgaa
     4681 atgcacaatg cacaaccgcc tatgaccatg tatcgtgtgc tagtccggga agccagccta
     4741 cacatcaata ggaacgccca aacattattt tcatatatca gtgcaaagaa agaaggttcg
     4801 taaacttctt taaaagttca gctttaatga caaagatcta ttacatcagt ctttttcttc
     4861 aaataagata gatgtgaata aacaacttca aacagga
//
