LOCUS       NM_006150               2795 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens prickle planar cell polarity protein 3 (PRICKLE3),
            transcript variant 1, mRNA.
ACCESSION   NM_006150
VERSION     NM_006150.5
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 2795)
  AUTHORS   Yu,J., Liang,X., Ji,Y., Ai,C., Liu,J., Zhu,L., Nie,Z., Jin,X.,
            Wang,C., Zhang,J., Zhao,F., Mei,S., Zhao,X., Zhou,X., Zhang,M.,
            Wang,M., Huang,T., Jiang,P. and Guan,M.X.
  TITLE     PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary
            optic neuropathy
  JOURNAL   J Clin Invest 130 (9), 4935-4946 (2020)
   PUBMED   32516135
  REMARK    GeneRIF: PRICKLE3 linked to ATPase biogenesis manifested Leber's
            hereditary optic neuropathy.
REFERENCE   2  (bases 1 to 2795)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   3  (bases 1 to 2795)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   4  (bases 1 to 2795)
  AUTHORS   Fisher,S.E., Ciccodicola,A., Tanaka,K., Curci,A., Desicato,S.,
            D'urso,M. and Craig,I.W.
  TITLE     Sequence-based exon prediction around the synaptophysin locus
            reveals a gene-rich area containing novel genes in human proximal
            Xp
  JOURNAL   Genomics 45 (2), 340-347 (1997)
   PUBMED   9344658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP227957.1, BC016856.1,
            BC002468.2, AK303200.1, AK299407.1, AA524273.1 and BM981706.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006150.4.
            
            Summary: LIM domain only 6 is a three LIM domain-containing
            protein.  The LIM domain is a cysteine-rich sequence motif that
            binds zinc atoms to form a specific protein-binding interface for
            protein-protein interactions. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC016856.1, SRR1163657.381247.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000599218.6/ ENSP00000470248.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 BP227957.1         16-19
            5-2043              BC016856.1         1-2039
            2044-2045           BC002468.2         2024-2025
            2046-2215           AK303200.1         1979-2148
            2216-2231           AK299407.1         1716-1731
            2232-2400           AA524273.1         22-190              c
            2401-2772           BM981706.1         40-411              c
            2773-2795           BM981706.1         16-38               c
FEATURES             Location/Qualifiers
     source          1..2795
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2795
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /note="prickle planar cell polarity protein 3"
                     /db_xref="GeneID:4007"
                     /db_xref="HGNC:HGNC:6645"
                     /db_xref="MIM:300111"
     exon            1..118
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1924
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     prickle-like protein 3; LMO-6; LIM domain only protein 6;
                     triple LIM domain protein 6; prickle homolog 3"
                     /codon_start=1
                     /product="prickle planar cell polarity protein 3 isoform
                     1"
                     /protein_id="NP_006141.2"
                     /db_xref="CCDS:CCDS14320.1"
                     /db_xref="GeneID:4007"
                     /db_xref="HGNC:HGNC:6645"
                     /db_xref="MIM:300111"
                     /translation="MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRK
                     ICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKP
                     EQVYQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAF
                     SQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGACWHPQCFVC
                     TTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEIIFSPECTEAEGRHWHMDHF
                     CCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCGEHIGLDQGQMAYEGQHWHA
                     SDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSAGPVTAPLA
                     ASTASFSAVKGASETTTKGTSTELAPATGPEEPSRFLRGAPHRHSMPELGLRSVPEPP
                     PESPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAP
                     SRRRHHHHNHHHHHNRHPSRRRHYQCDAGSGSDSESCSSSPSSSSSESSEDDGFFLGE
                     RIPLPPHLCRPMPAQDTAMETFNSPSLSLPRDSRAGMPRQARDKNCIVA"
     exon            119..204
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            205..388
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            389..502
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            503..640
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            641..844
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            845..1031
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1331
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..2795
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2020..2025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /note="hexamer: CATAAA"
     polyA_site      2045
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
     regulatory      2773..2778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /note="hexamer: AATAAA"
     polyA_site      2795
                     /gene="PRICKLE3"
                     /gene_synonym="LMO6; LOAM; LOAS; Pk3"
                     /note="major polyA site"
ORIGIN      
        1 ggacgcgcgg tggcctgacg gtcgcaagga ttacattcgc ctgacccggc ccggcttgac
       61 cctgcccggg cgcgccatgt tcgcgcgtgg gtcccggagg cgccgctccg ggcgtgcgcc
      121 tccagaggca gaggacccag accggggcca gccctgcaac tcctgtaggg agcagtgccc
      181 tggcttcctg ctccacggct ggagaaagat ctgccagcat tgcaaatgcc cgcgggagga
      241 gcatgcagtg cacgcggtgc ctgtggacct ggaacgcatc atgtgtcggc taatctcgga
      301 cttccagcgc cactccatct ccgacgacga ctcaggctgt gcatcggagg agtatgcctg
      361 ggtgccccca ggccttaagc cggagcaggt atatcaattt ttcagctgcc tcccagagga
      421 caaggtcccc tacgtcaaca gtcctgggga gaaatacagg atcaagcagc tgctgcacca
      481 gctgccccca cacgacagtg aggcacagta ctgcacagca ctggaagagg aggaaaagaa
      541 agagctccga gcctttagcc agcagcggaa gcgggagaat ctggggcgtg gcatcgtgcg
      601 catcttcccg gtgaccatca ctggggccat ctgtgaggag tgcggaaagc agattggagg
      661 tggggacatc gcagtgtttg ccagccgtgc aggcctgggt gcctgctggc acccacagtg
      721 cttcgtgtgt accacgtgcc aggaactgct ggttgacctc atctacttct accatgttgg
      781 caaggtctac tgcgggcgtc accatgccga atgcctgcgt ccacgctgcc aagcctgtga
      841 cgagatcatc ttctcccctg agtgcacgga ggctgagggc cgccactggc acatggatca
      901 cttctgctgc tttgagtgtg aagcttcact aggagggcag cgctatgtca tgcgtcagag
      961 ccgcccccac tgctgcgcct gctacgaggc ccgccacgcg gagtactgtg atggctgtgg
     1021 ggagcacatc ggcctggacc aaggccagat ggcttacgag ggccagcact ggcatgcctc
     1081 agaccgctgc ttctgctgta gtcgctgtgg gcgggccctg ctgggccgcc cattcctgcc
     1141 acgccgaggc ctaatcttct gctctcgagc ctgcagcctt gggtccgagc ccacagctcc
     1201 agggccgagc cgccgcagct ggagtgccgg ccctgtcaca gccccacttg cagcctccac
     1261 agcctctttc tctgctgtga agggggcatc agagaccacc accaaaggca ccagcacaga
     1321 gttagcgcca gctacaggcc ctgaggagcc ctcccgcttt ctgagagggg ctccccaccg
     1381 ccactccatg ccggaactgg ggctccgcag tgtccccgag ccgcccccag agtcccccgg
     1441 ccagcctaac ctgcgcccag atgatagtgc cttcggtcgt cagagcaccc cacgcgtcag
     1501 cttccgcgac cctctggtgt ctgaaggagg cccgcgccgg accctgagtg cacccccggc
     1561 ccagcgccgc aggccacgca gtcccccacc cagggccccc agccgtcgcc gccaccatca
     1621 tcataatcac catcaccatc acaaccgcca cccaagcaga cgtcgccact atcaatgtga
     1681 cgcgggatca gggtcagact cggaatcttg ctccagctcg ccctccagtt ccagttccga
     1741 atcatcagag gatgatggct tcttcctagg agagcgcatc cctctgcccc cgcatttgtg
     1801 caggcccatg cctgctcagg acactgcaat ggagaccttc aactccccat ctttatcgct
     1861 ccccagggac tctcgcgcag ggatgcctcg tcaggcccga gacaagaact gcatcgtggc
     1921 ttgaaggcag gccgtcctgg agggggctcc attctccagt cagagtagat gatgaggccc
     1981 atgcccctca cccccacgcc ccgcccctac aacctaagtc ataaatcctc ttcctccctc
     2041 ctttatcagt ttgtttctat ttttgtttct gttttagaga cttggtctac cctattgccc
     2101 aggctggagt gcagtggtgt gatcagggct cactgcagcc tcaaaagttt tgggctcaag
     2161 ctatcctccc acctcagcct cccaagtagc tgggactcca ggctcgtgtc agcgttccca
     2221 gctaattttt taattttttg gtagagatgg ggttttgcca tgttgcccag gctggtctag
     2281 aactcctggg ctcaagcaat cctcccgcag cctcccaaag gactgggatt acaggcatga
     2341 gccaccgcac cgggcctctc gtttgtatta ttgaagtaat ttaatatttg ttgtaaaaca
     2401 ggcctggctt ctttgcctcc ttgccccagc tgtttccact ccatttcccc ctcctgatgc
     2461 ttgaaattta cccacatttg atgaaaggat tactttattc attatcgtat attttaacaa
     2521 tgtttattat tcatttatcc ctctatagaa ccaccaccca caccgaggag attatttgga
     2581 gtgggtccca acctagggcc tggactctga aatctaactc cccacttccc tcattttgtg
     2641 acttaggtgg gggcatggtt cagtcagaac tggtgtctcc tattggatcg tgcagaagga
     2701 ggacctaggc acacacatat ggtggccaca cccaggaggg ttgattggca ggctggaaga
     2761 caaaagtctc ccaataaagg cacttttacc tcaaa
//
