LOCUS       NM_003322               2120 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens TUB like protein 1 (TULP1), transcript variant 1,
            mRNA.
ACCESSION   NM_003322
VERSION     NM_003322.6
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 2120)
  AUTHORS   Majander,A., Sankila,E.M., Falck,A., Vasara,L.K., Seitsonen,S.,
            Kulmala,M., Haavisto,A.K., Avela,K. and Turunen,J.A.
  TITLE     Natural history and biomarkers of retinal dystrophy caused by the
            biallelic TULP1 variant c.148delG
  JOURNAL   Acta Ophthalmol 101 (2), 215-221 (2023)
   PUBMED   36128853
  REMARK    GeneRIF: Natural history and biomarkers of retinal dystrophy caused
            by the biallelic TULP1 variant c.148delG.
REFERENCE   2  (bases 1 to 2120)
  AUTHORS   Al-Hindi,H., Chauhan,M.Z., Sanders,R., Samarah,H., DeBenedictis,M.,
            Traboulsi,E. and Uwaydat,S.H.
  TITLE     TULP1 related retinal dystrophy: report of rare and novel variants
            with a previously undescribed phenotype in two cases
  JOURNAL   Ophthalmic Genet 43 (2), 277-281 (2022)
   PUBMED   34865612
  REMARK    GeneRIF: TULP1 related retinal dystrophy: report of rare and novel
            variants with a previously undescribed phenotype in two cases.
REFERENCE   3  (bases 1 to 2120)
  AUTHORS   Woodard,D.R., Xing,C., Ganne,P., Liang,H., Mahindrakar,A.,
            Sankurathri,C., Hulleman,J.D. and Mootha,V.V.
  TITLE     A novel homozygous missense mutation p.P388S in TULP1 causes
            protein instability and retinitis pigmentosa
  JOURNAL   Mol Vis 27, 179-190 (2021)
   PUBMED   33907372
  REMARK    GeneRIF: A novel homozygous missense mutation p.P388S in TULP1
            causes protein instability and retinitis pigmentosa.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2120)
  AUTHORS   Ullah,I., Kabir,F., Iqbal,M., Gottsch,C.B., Naeem,M.A., Assir,M.Z.,
            Khan,S.N., Akram,J., Riazuddin,S., Ayyagari,R., Hejtmancik,J.F. and
            Riazuddin,S.A.
  TITLE     Pathogenic mutations in TULP1 responsible for retinitis pigmentosa
            identified in consanguineous familial cases
  JOURNAL   Mol Vis 22, 797-815 (2016)
   PUBMED   27440997
  REMARK    GeneRIF: Pathogenic mutations in TULP1 are responsible for the
            retinitis pigmentosa phenotype in seven familial cases with a
            common ancestral mutation responsible for the disease phenotype in
            four of the seven families.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2120)
  AUTHORS   North,M.A., Naggert,J.K., Yan,Y., Noben-Trauth,K. and Nishina,P.M.
  TITLE     Molecular characterization of TUB, TULP1, and TULP2, members of the
            novel tubby gene family and their possible relation to ocular
            diseases
  JOURNAL   Proc Natl Acad Sci U S A 94 (7), 3128-3133 (1997)
   PUBMED   9096357
REFERENCE   6  (bases 1 to 2120)
  AUTHORS   Knowles,J.A., Shugart,Y., Banerjee,P., Gilliam,T.C., Lewis,C.A.,
            Jacobson,S.G. and Ott,J.
  TITLE     Identification of a locus, distinct from RDS-peripherin, for
            autosomal recessive retinitis pigmentosa on chromosome 6p
  JOURNAL   Hum Mol Genet 3 (8), 1401-1403 (1994)
   PUBMED   7987322
REFERENCE   7  (bases 1 to 2120)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   8  (bases 1 to 2120)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   9  (bases 1 to 2120)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - 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   20301475
REFERENCE   10 (bases 1 to 2120)
  AUTHORS   Powles,T.J., Rosset,G., Leese,C.L. and Bondy,P.K.
  TITLE     Early morning hydroxyproline excretion in patients with breast
            cancer
  JOURNAL   Cancer 38 (6), 2564-2566 (1976)
   PUBMED   1000483
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ426893.1, U82468.2,
            AL033519.42 and BC065261.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003322.5.
            
            Summary: This gene encodes a member of the tubby-like gene family
            (TULPs). Members of this family have been identified in plants,
            vertebrates, and invertebrates. TULP proteins share a conserved
            C-terminal region of approximately 200 amino acid residues. The
            protein encoded by this gene is thought to play a role in the
            physiology of photoreceptors. Mutations in this gene are associated
            with recessive juvenile retinitis pigmentosa and Leber congenital
            amaurosis-15. [provided by RefSeq, Nov 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: U82468.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968832 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229771.11/ ENSP00000229771.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DQ426893.1         43-70
            29-237              U82468.2           1-209
            238-238             AL033519.42        15834-15834         c
            239-723             U82468.2           211-695
            724-724             AL033519.42        13703-13703         c
            725-820             U82468.2           697-792
            821-821             AL033519.42        13285-13285         c
            822-1657            U82468.2           794-1629
            1658-1961           AL033519.42        2070-2373           c
            1962-2117           U82468.2           1934-2089
            2118-2120           BC065261.1         1933-1935
FEATURES             Location/Qualifiers
     source          1..2120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..2120
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /note="TUB like protein 1"
                     /db_xref="GeneID:7287"
                     /db_xref="HGNC:HGNC:12423"
                     /db_xref="MIM:602280"
     exon            1..85
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1667
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tubby-related protein 1; tubby like protein 1"
                     /codon_start=1
                     /product="tubby-related protein 1 isoform 1"
                     /protein_id="NP_003313.3"
                     /db_xref="CCDS:CCDS4807.1"
                     /db_xref="GeneID:7287"
                     /db_xref="HGNC:HGNC:12423"
                     /db_xref="MIM:602280"
                     /translation="MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKK
                     RTEAPESPCPTGSKPRKPGAGRTGRPREEPSPDPAQARAPQTVYARFLRDPEAKKRDP
                     RETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKILLPPKKPLREKSSADLKERRA
                     KAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPSGSPASARK
                     SPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKA
                     KEERAPSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKV
                     FLLAGRKRKRSKTANYLISIDPTNLSRGGENFIGKLRSNLLGNRFTVFDNGQNPQRGY
                     STNVASLRQELAAVIYETNVLGFRGPRRMTVIIPGMSAENERVPIRPRNASDGLLVRW
                     QNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKNFQIVHADDPDYIVLQFGR
                     VAEDAFTLDYRYPLCALQAFAIALSSFDGKLACE"
     exon            86..137
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            138..228
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            229..387
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            388..537
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            538..639
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            640..756
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            757..860
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            861..866
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1037
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1150
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1262
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1361
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1533
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..2120
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2098..2103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /note="hexamer: AATAAA"
     polyA_site      2120
                     /gene="TULP1"
                     /gene_synonym="LCA15; RP14; TUBL1"
                     /note="major polyA site"
ORIGIN      
        1 agacctgcag agaaaggggt gcgataggca aaggcaccat gcctctgcgg gatgaaaccc
       61 tccgagaggt gtgggcctct gacagtgggc atgaagaaga aagcctgagc ccggaggccc
      121 cgcggcgccc caaacagcga cccgccccgg cacagaggct aaggaagaag aggacggagg
      181 cccccgaatc cccctgcccc acgggatcca agccccggaa gcccggagct gggcggacgg
      241 ggaggccgcg ggaggagcct tccccagacc cagcccaggc ccgggcgccg cagacggtct
      301 acgccaggtt cctcagggac cccgaggcca agaagcgcga cccccgggaa acctttctgg
      361 tagcccgtgc cccagacgcg gaggacgagg aggaggagga agaggaggac gaggaggacg
      421 aggaagagga ggcagaggaa aagaaagaga aaatccttct gcctcccaag aagcccctga
      481 gagagaagag ctccgcagac ctgaaggaga ggagggccaa ggcccagggc ccaaggggag
      541 acctgggaag ccctgacccc ccaccgaaac ctctgcgtgt taggaataag gaagctccag
      601 caggggaggg gaccaagatg agaaagacca agaagaaagg gtctggggag gccgacaagg
      661 acccctcagg gagcccagcc agtgcgagga agagcccagc agccatgttt ctggttgggg
      721 aaggcagtcc tgacaagaaa gccctgaaga agaaaggcac tcccaaaggc gcgaggaagg
      781 aggaagaaga ggaggaggag gcagctacgg tgataaagaa gagcaatcaa aagggcaaag
      841 ccaaaggaaa aggcaaaaag aaagcgaagg aggagagggc cccgtctccc cccgtggagg
      901 tggacgaacc ccgggagttt gtgctccggc ctgcccccca gggccgcacg gtgcgctgcc
      961 ggctgacccg ggacaaaaag ggcatggatc gaggcatgta tccctcctac ttcctgcacc
     1021 tggacacgga gaagaaggtg ttcctcttgg ctggcaggaa acgaaaacgg agcaagacag
     1081 ccaattacct catctccatc gaccctacca atctgtcccg aggaggggag aatttcatcg
     1141 ggaagctgag gtccaacctc ctggggaacc gcttcacggt ctttgacaac gggcagaacc
     1201 cacagcgtgg gtacagcact aatgtggcaa gccttcggca ggagctggca gctgtgatct
     1261 atgaaaccaa cgtgctgggc ttccgtggcc cccggcgcat gaccgtcatc attcctggca
     1321 tgagtgcgga gaacgagagg gtccccatcc ggccccgaaa tgctagtgac ggcctgctgg
     1381 tgcgctggca gaacaagacg ctggagagcc tcatagaact gcacaacaag ccacctgtct
     1441 ggaacgatga cagtggctcc tacaccctca acttccaagg ccgggtcacc caggcctcag
     1501 tcaagaactt ccagattgtc cacgctgatg accccgacta tatcgtgctg cagttcggcc
     1561 gcgtggcgga ggacgccttc accctagact accggtaccc gctgtgcgcc ctgcaggcct
     1621 tcgccatcgc cctctccagt ttcgacggga agctggcctg cgagtgaccc cagcagcccc
     1681 tcagcgcccc cagagcccgt cagcgtgggg gaaaggattc agtggaggct ggcagggtcc
     1741 ctccagcaaa gctcccgcgg aaaactgctc ctgtgtcggg gctgacctct cactgcctct
     1801 cggtgacctc cgtcctctcc ccagcctggc acaggccgag gcaggaggag cccggacggc
     1861 gggtaggacg gagatgaaga acatctggag ttggagccgc acatctggtc tcggagctcg
     1921 cctgcgccgc tgtgcccccc tcctccccgc gccccagtca cttcctgtcc gggagcagta
     1981 gtcattgttg ttttaacctc ccctctcccc gggaccgcgc tagggctccg aggagctggg
     2041 gcgggctagg aggagggggt aggtgatggg ggacgagggc caggcaccca catccccaat
     2101 aaagccgcgt ccttggccaa
//
