LOCUS       NM_001002277            3875 bp    mRNA    linear   ROD 09-APR-2024
DEFINITION  Rattus norvegicus Abelson helper integration site 1 (Ahi1), mRNA.
ACCESSION   NM_001002277 XM_219231
VERSION     NM_001002277.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3875)
  AUTHORS   Dharmat,R., Eblimit,A., Robichaux,M.A., Zhang,Z., Nguyen,T.T.,
            Jung,S.Y., He,F., Jain,A., Li,Y., Qin,J., Overbeek,P., Roepman,R.,
            Mardon,G., Wensel,T.G. and Chen,R.
  TITLE     SPATA7 maintains a novel photoreceptor-specific zone in the distal
            connecting cilium
  JOURNAL   J Cell Biol 217 (8), 2851-2865 (2018)
   PUBMED   29899041
REFERENCE   2  (bases 1 to 3875)
  AUTHORS   Chafai-Elalaoui,S., Chalon,M., Elkhartoufi,N., Kriouele,Y.,
            Mansouri,M., Attie-Bitach,T., Sefiani,A. and Baala,L.
  TITLE     A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a
            consanguineous Moroccan family with Joubert syndrome: a case report
  JOURNAL   J Med Case Rep 9, 254 (2015)
   PUBMED   26541515
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3875)
  AUTHORS   Tuz,K., Hsiao,Y.C., Juarez,O., Shi,B., Harmon,E.Y., Phelps,I.G.,
            Lennartz,M.R., Glass,I.A., Doherty,D. and Ferland,R.J.
  TITLE     The Joubert syndrome-associated missense mutation (V443D) in the
            Abelson-helper integration site 1 (AHI1) protein alters its
            localization and protein-protein interactions
  JOURNAL   J Biol Chem 288 (19), 13676-13694 (2013)
   PUBMED   23532844
REFERENCE   4  (bases 1 to 3875)
  AUTHORS   Weng,L., Lin,Y.F., Li,A.L., Wang,C.E., Yan,S., Sun,M.,
            Gaertig,M.A., Mitha,N., Kosaka,J., Wakabayashi,T., Xu,X., Tang,B.,
            Li,S. and Li,X.J.
  TITLE     Loss of Ahi1 affects early development by impairing
            BM88/Cend1-mediated neuronal differentiation
  JOURNAL   J Neurosci 33 (19), 8172-8184 (2013)
   PUBMED   23658157
REFERENCE   5  (bases 1 to 3875)
  AUTHORS   Chih,B., Liu,P., Chinn,Y., Chalouni,C., Komuves,L.G., Hass,P.E.,
            Sandoval,W. and Peterson,A.S.
  TITLE     A ciliopathy complex at the transition zone protects the cilia as a
            privileged membrane domain
  JOURNAL   Nat Cell Biol 14 (1), 61-72 (2011)
   PUBMED   22179047
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3875)
  AUTHORS   Parisi,M.A., Doherty,D., Eckert,M.L., Shaw,D.W., Ozyurek,H.,
            Aysun,S., Giray,O., Al Swaid,A., Al Shahwan,S., Dohayan,N.,
            Bakhsh,E., Indridason,O.S., Dobyns,W.B., Bennett,C.L., Chance,P.F.
            and Glass,I.A.
  TITLE     AHI1 mutations cause both retinal dystrophy and renal cystic
            disease in Joubert syndrome
  JOURNAL   J Med Genet 43 (4), 334-339 (2006)
   PUBMED   16155189
REFERENCE   7  (bases 1 to 3875)
  AUTHORS   Valente,E.M., Brancati,F., Silhavy,J.L., Castori,M., Marsh,S.E.,
            Barrano,G., Bertini,E., Boltshauser,E., Zaki,M.S., Abdel-Aleem,A.,
            Abdel-Salam,G.M., Bellacchio,E., Battini,R., Cruse,R.P.,
            Dobyns,W.B., Krishnamoorthy,K.S., Lagier-Tourenne,C., Magee,A.,
            Pascual-Castroviejo,I., Salpietro,C.D., Sarco,D., Dallapiccola,B.
            and Gleeson,J.G.
  CONSRTM   International JSRD Study Group
  TITLE     AHI1 gene mutations cause specific forms of Joubert
            syndrome-related disorders
  JOURNAL   Ann Neurol 59 (3), 527-534 (2006)
   PUBMED   16453322
REFERENCE   8  (bases 1 to 3875)
  AUTHORS   Dixon-Salazar,T., Silhavy,J.L., Marsh,S.E., Louie,C.M., Scott,L.C.,
            Gururaj,A., Al-Gazali,L., Al-Tawari,A.A., Kayserili,H., Sztriha,L.
            and Gleeson,J.G.
  TITLE     Mutations in the AHI1 gene, encoding jouberin, cause Joubert
            syndrome with cortical polymicrogyria
  JOURNAL   Am J Hum Genet 75 (6), 979-987 (2004)
   PUBMED   15467982
REFERENCE   9  (bases 1 to 3875)
  AUTHORS   Ferland,R.J., Eyaid,W., Collura,R.V., Tully,L.D., Hill,R.S.,
            Al-Nouri,D., Al-Rumayyan,A., Topcu,M., Gascon,G., Bodell,A.,
            Shugart,Y.Y., Ruvolo,M. and Walsh,C.A.
  TITLE     Abnormal cerebellar development and axonal decussation due to
            mutations in AHI1 in Joubert syndrome
  JOURNAL   Nat Genet 36 (9), 1008-1013 (2004)
   PUBMED   15322546
  REMARK    Erratum:[Nat Genet. 2004 Oct;36(10):1126]
REFERENCE   10 (bases 1 to 3875)
  AUTHORS   Jiang,X., Hanna,Z., Kaouass,M., Girard,L. and Jolicoeur,P.
  TITLE     Ahi-1, a novel gene encoding a modular protein with WD40-repeat and
            SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus
            integrations
  JOURNAL   J Virol 76 (18), 9046-9059 (2002)
   PUBMED   12186888
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000001.1.
            
            On Mar 10, 2021 this sequence version replaced NM_001002277.1.
            
            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 :: FQ226565.1, SRR26643299.240.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760383, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               JAXUCZ010000001.1  17582031-17582130
            101-572             JAXUCZ010000001.1  17587435-17587906
            573-742             JAXUCZ010000001.1  17590416-17590585
            743-962             JAXUCZ010000001.1  17591020-17591239
            963-1155            JAXUCZ010000001.1  17592860-17593052
            1156-1251           JAXUCZ010000001.1  17593270-17593365
            1252-1437           JAXUCZ010000001.1  17596551-17596736
            1438-1590           JAXUCZ010000001.1  17598045-17598197
            1591-1723           JAXUCZ010000001.1  17599249-17599381
            1724-1847           JAXUCZ010000001.1  17602392-17602515
            1848-2077           JAXUCZ010000001.1  17604114-17604343
            2078-2184           JAXUCZ010000001.1  17605824-17605930
            2185-2303           JAXUCZ010000001.1  17609413-17609531
            2304-2434           JAXUCZ010000001.1  17611359-17611489
            2435-2575           JAXUCZ010000001.1  17612839-17612979
            2576-2775           JAXUCZ010000001.1  17623559-17623758
            2776-2802           JAXUCZ010000001.1  17629563-17629589
            2803-2923           JAXUCZ010000001.1  17639458-17639578
            2924-2979           JAXUCZ010000001.1  17666456-17666511
            2980-3142           JAXUCZ010000001.1  17683373-17683535
            3143-3240           JAXUCZ010000001.1  17686609-17686706
            3241-3299           JAXUCZ010000001.1  17701408-17701466
            3300-3402           JAXUCZ010000001.1  17706184-17706286
            3403-3875           JAXUCZ010000001.1  17710283-17710755
FEATURES             Location/Qualifiers
     source          1..3875
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1p12"
     gene            1..3875
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /note="Abelson helper integration site 1"
                     /db_xref="GeneID:308923"
                     /db_xref="RGD:1303040"
     exon            1..100
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            101..572
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..3405
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /note="abelson helper integration site 1 protein homolog;
                     jouberin-like"
                     /codon_start=1
                     /product="jouberin"
                     /protein_id="NP_001002277.2"
                     /db_xref="GeneID:308923"
                     /db_xref="RGD:1303040"
                     /translation="MEQETPEKVDSAQEKVRGKSQPADDSEDSREKAGTEGTGELTEA
                     YELQVAEEMAKEIKKKIRRKLKEQLTYFPPDTLLHDDKLGSEKRKKKKKKKVPVPAKP
                     ETSPSDVCDSAAEGEQKKEGAPEGSHHREGGCSTEQNADASVPENTKPKPKKMKKKPK
                     AVSEDNEETNGDGVHEITGRDSPVHPKCLLDDDLVMGVYIHRTDRLKSDFMISHPMVK
                     IHVVDEHTGQYVKKDDSERPVSSYYEKDNVDYILPIMTQPYDFKKLKSRLPEWEEQVI
                     FNENFPYLLREFDECPKVILFFEILDFLSMDEIKNNSEFQNQECGFRKIAWAFLKLLG
                     ANGNANINSKLRLQLYYPPTKPRSQPNVVEVFEWWSKCPRNRYPSTLYVTVRGLKVPD
                     CIKPSYRSMMALQEERGTPVYCERHRETSSVDTEPGLEDSKEEVKWKRLPGQACRIPN
                     KHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNII
                     YDLDWSKDDRYLVTSSSDGTARVWKNEINSTSTFRVLPHPSFVYTARFHPATRELVVT
                     GCYDSMIRIWKVDAREDAAILVRQLDVHKSFVNSICFDDEGHHMYSGDCIGVIAVWDT
                     YVKVTDVQHSVRHWTINKEIKETEFRGVPVSYLEVHPNGKRLLIHTKDSTLRIMDLRI
                     LAARKFVGAANYREKIHSTLTPCGTLLFSGSEDGIVYVWNPETGEQVAMYSELPFKST
                     IRDISYHPFENMVAFCAFGQSEPILLYIYDFQVAQQEAEMLKRYSGTVPLPGIHQSED
                     ALCTCPKLPQQGSFQIDEFVNTENNSSRKIQLVKQRLETVTEVIRSCAAKVNKNLSIT
                     SPPPGPAKKPRVKQSFVLTTDQIIHQFGVPQTAFISIERRPFMRPVDPPPMVVALYDY
                     TASRSDELTIHRGDIIRVFFKDNEDWWYGSLGKGQEGFFPANHVASETLYRDSPPKVK
                     ERSPPLTPKEKAKMEKPPASRKQSLIKDRFLDSRLGSKPMGHSEKGRDQNFEERGHKS
                     DMEMKKSEPTVRKVTLIE"
     exon            573..742
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            743..962
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1155
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1251
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1437
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1590
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..1723
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1724..1847
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..2077
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2078..2184
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2185..2303
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2304..2434
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2435..2575
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2576..2775
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2776..2802
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2803..2923
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2924..2979
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2980..3142
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3143..3240
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3241..3299
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3300..3402
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3403..3875
                     /gene="Ahi1"
                     /gene_synonym="Ahi-1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcgtgcgtgg ccagcggtcg agcgggttga gctgctgctt ccctagccct tgcctgggcg
       61 cagggagccg cttcgcgtcg tccggctgtc tctcctttcc cctgttacct tcaaagtaat
      121 cttctggctg ccttagaact aaaattaaca ctcataacct agagaagtga gtggcacatg
      181 gagattcaga ggacagtgtt agtttagagg tagagaagca ggaaaagcca aataaacgct
      241 acctaaatca caaaggaaat ggagcaagag actccagaga aggtggactc tgcacaggag
      301 aaggtcagag gcaagtccca gccagcagat gactcggagg acagccgaga aaaggctggg
      361 acagaaggga cgggagaact gaccgaagcc tatgagctgc aggtagctga agaaatggca
      421 aaagagatca agaagaaaat aagaaggaag ctaaaggagc agctgaccta ctttcctcca
      481 gacactctgc tgcatgacga caagctgggc agtgaaaaaa ggaagaagaa gaagaagaag
      541 aaagtcccag tgccagctaa gcctgagacg agtccctcag atgtctgtga cagtgcagct
      601 gaaggtgagc aaaagaaaga aggcgcccct gaggggtctc accacaggga gggaggatgc
      661 tcaacagaac agaatgcaga tgccagtgta ccagagaaca caaagcccaa acccaagaag
      721 atgaagaaga agcctaaagc agtttcagag gataatgaag agactaatgg agatggtgtt
      781 catgagataa caggccgaga cagcccagtt catcccaagt gtttgctcga tgacgacctc
      841 gtcatgggag tctacattca ccgaaccgat cggcttaaat ctgactttat gatttctcac
      901 ccaatggtaa agatccatgt ggttgatgaa cacactggcc agtacgtcaa gaaagatgac
      961 agtgagcgtc ccgtctcatc ttactatgag aaagacaacg tggactatat tctccctatt
     1021 atgacgcagc cgtacgactt taaaaagcta aagtcaaggc ttccagagtg ggaggaacaa
     1081 gttattttta atgaaaattt tccctatttg cttcgagagt ttgatgagtg cccaaaagtc
     1141 attctgttct ttgagattct tgacttttta agcatggatg aaatcaagaa taactctgag
     1201 tttcaaaacc aagaatgtgg ctttcggaaa attgcctggg catttcttaa gctcctggga
     1261 gccaatggaa atgcaaacat caactcaaaa cttcgtctgc agctctacta cccacctact
     1321 aagcctcgat cccagccaaa tgttgttgag gtttttgagt ggtggtccaa gtgtccaagg
     1381 aatcgttacc catcaacact gtatgtaacc gtacgagggt tgaaagtccc ggactgcata
     1441 aagccatcgt accgctctat gatggctctc caggaggaaa ggggtacacc agtgtactgt
     1501 gaacgccacc gtgaaacaag ttctgtggac acagaacctg gattagaaga ttcaaaggag
     1561 gaagtaaagt ggaaacgtct gccgggccag gcctgtcgta tcccaaacaa gcatctcttc
     1621 tcactaaatg ctggagagcg agggtgtttt tgccttgatt tctcccacaa tggaaggata
     1681 ttagcagcag cctgtgccag ccgagacgga tatccgatta tactatacga aattccttct
     1741 ggacgtttca tgagagaatt gtgtggccac ctcaatatca tttatgatct cgactggtca
     1801 aaagacgatc gctatcttgt tacttcatca tctgatggca ctgccagggt ttggaagaat
     1861 gaaatcaaca gcacaagcac gttcagagtc ttacctcacc cttccttcgt ctacacggct
     1921 agattccacc ccgccacacg agagctggtg gttacgggat gctatgactc tatgattcgg
     1981 atatggaagg tggatgcgag ggaagatgcc gccatcttag tgcgccagtt ggatgtccac
     2041 aagagcttcg tcaactccat ctgttttgat gatgaaggtc accacatgta ctcaggagac
     2101 tgcatcggcg tcatcgctgt gtgggacact tatgtcaaag tgactgatgt gcagcactct
     2161 gtgcgccact ggacaataaa caaggaaatt aaggaaactg aattcagggg agttccagtc
     2221 agttacctgg aggtgcatcc caacggaaag cgtttattaa tccacaccaa agacagtaca
     2281 ttgaggatca tggatctgcg gatattagca gccaggaaat ttgtgggcgc agcaaattac
     2341 cgggagaaga tccacagcac tttgacaccg tgtgggactc tgctcttttc tggcagtgag
     2401 gatgggatag tgtacgtttg gaacccagag acaggagaac aagtggcaat gtattctgag
     2461 ctgccgttca agtcaactat ccgagacatc tcttaccatc catttgagaa catggttgcg
     2521 ttttgtgcct ttggacagag cgagcccatt cttctttaca tttatgattt ccaggtggcc
     2581 cagcaggagg ctgaaatgtt gaagcgctac agtgggacag tcccgttacc tgggatccat
     2641 cagagtgagg atgctctatg cacctgccct aaactgcccc agcagggctc tttccagatc
     2701 gatgaatttg tcaacactga aaataattca tcaagaaaga ttcagcttgt gaaacagaga
     2761 ctcgaaactg tcacagaggt gatacgatcc tgtgctgcaa aagtcaacaa aaatctctca
     2821 atcacttcac caccaccagg ccctgcaaag aagccaaggg tgaaacagtc attcgtgctg
     2881 accaccgatc agatcataca tcagtttgga gtccctcaga cggcatttat cagcatagaa
     2941 agaagacctt ttatgcgtcc agtggatccg ccaccaatgg tagtggctct ttatgactac
     3001 acagcgagcc gatcagatga actaaccatc catcgcggag acattatccg agtgttcttc
     3061 aaagataacg aagactggtg gtacggcagc ttaggaaagg ggcaggaagg gttctttcca
     3121 gctaatcatg tggccagtga gacactgtac cgagactcgc ccccaaaggt aaaggagcgg
     3181 tcccctcctt taactcccaa ggagaaagct aaaatggaaa agcctccagc ttctcgaaag
     3241 cagtcactca ttaaggacag gttcctggat tccagactgg gctcgaagcc tatgggacat
     3301 tctgaaaagg gcagagatca aaacttcgag gagcgaggac acaaatcgga tatggagatg
     3361 aagaaaagtg agccaacggt ccgcaaagtc accctgatag agtaaaaagc cggggaagaa
     3421 agaagaaaca gcctgaggac ggcacgtgag atggaaagct acaccagatg gatttctttt
     3481 tggattttga gtgaaaacaa ggcagtattt attgaccgta tgaaaaatct gaagtgaagt
     3541 tagttctaaa aaaaaaattt actgtggccc ttgggcttta ttgttataaa ccattgtgag
     3601 tgttattagt caaagtattg tacttgtgct attagtgact acatcagaat tatattgctg
     3661 ctgctggaaa agccaataaa gaaaccccca gaactgctcc tcagcaaatg tgaacgacag
     3721 tgtgcacagt gttagtcatt cactaggcca tcatcccgtg tggctgtgac gtggctgtga
     3781 cgtggccgta ggccatcatc ccgtgtggct gtgacgtggc tgtaggccat catcccgtgt
     3841 ggctgtgacg tggctgtgct gtaggccatc atccc
//
