LOCUS       NM_014171               6323 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens CXXC repeat containing interactor of PDZ3 domain
            (CRIPT), mRNA.
ACCESSION   NM_014171
VERSION     NM_014171.6
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 6323)
  AUTHORS   Averdunk,L., Huetzen,M.A., Moreno-Andres,D., Kalb,R., McKee,S.,
            Hsieh,T.C., Seibt,A., Schouwink,M., Lalani,S., Faqeih,E.A.,
            Brunet,T., Boor,P., Neveling,K., Hoischen,A., Hildebrandt,B.,
            Graf,E., Lu,L., Jin,W., Schaper,J., Omer,J.A., Demaret,T.,
            Fleischer,N., Schindler,D., Krawitz,P., Mayatepek,E., Wieczorek,D.,
            Wang,L.L., Antonin,W., Jachimowicz,R.D., von Felbert,V. and
            Distelmaier,F.
  TITLE     Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome
            with increased cellular senescence
  JOURNAL   Genet Med 25 (7), 100836 (2023)
   PUBMED   37013901
  REMARK    GeneRIF: Biallelic variants in CRIPT cause a Rothmund-Thomson-like
            syndrome with increased cellular senescence.
REFERENCE   2  (bases 1 to 6323)
  AUTHORS   Xu,K., Wang,C., Keinanen,K., Li,H. and Cai,C.
  TITLE     Mitotic spindle disassembly in human cells relies on CRIPT having
            hierarchical redox signals
  JOURNAL   J Cell Sci 135 (18) (2022)
   PUBMED   36148798
  REMARK    GeneRIF: Mitotic spindle disassembly in human cells relies on CRIPT
            having hierarchical redox signals.
REFERENCE   3  (bases 1 to 6323)
  AUTHORS   Laursen,L., Calyseva,J., Gibson,T.J. and Jemth,P.
  TITLE     Divergent Evolution of a Protein-Protein Interaction Revealed
            through Ancestral Sequence Reconstruction and Resurrection
  JOURNAL   Mol Biol Evol 38 (1), 152-167 (2021)
   PUBMED   32750125
  REMARK    GeneRIF: Divergent Evolution of a Protein-Protein Interaction
            Revealed through Ancestral Sequence Reconstruction and
            Resurrection.
REFERENCE   4  (bases 1 to 6323)
  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   5  (bases 1 to 6323)
  AUTHORS   Rademacher,N., Kuropka,B., Kunde,S.A., Wahl,M.C., Freund,C. and
            Shoichet,S.A.
  TITLE     Intramolecular domain dynamics regulate synaptic MAGUK protein
            interactions
  JOURNAL   Elife 8, e41299 (2019)
   PUBMED   30864948
  REMARK    GeneRIF: The PSD-95 GK domain binds to Gnb5, and this interaction
            is triggered by CRIPT-derived PDZ3 ligands binding to the third PDZ
            domain of PSD-95, unraveling a hierarchical binding mechanism of
            PSD-95 complex formation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6323)
  AUTHORS   Cai,C., Coleman,S.K., Niemi,K. and Keinanen,K.
  TITLE     Selective binding of synapse-associated protein 97 to GluR-A
            alpha-amino-5-hydroxy-3-methyl-4-isoxazole propionate receptor
            subunit is determined by a novel sequence motif
  JOURNAL   J Biol Chem 277 (35), 31484-31490 (2002)
   PUBMED   12070168
REFERENCE   7  (bases 1 to 6323)
  AUTHORS   Lim,I.A., Hall,D.D. and Hell,J.W.
  TITLE     Selectivity and promiscuity of the first and second PDZ domains of
            PSD-95 and synapse-associated protein 102
  JOURNAL   J Biol Chem 277 (24), 21697-21711 (2002)
   PUBMED   11937501
REFERENCE   8  (bases 1 to 6323)
  AUTHORS   Piserchio,A., Pellegrini,M., Mehta,S., Blackman,S.M., Garcia,E.P.,
            Marshall,J. and Mierke,D.F.
  TITLE     The PDZ1 domain of SAP90. Characterization of structure and binding
  JOURNAL   J Biol Chem 277 (9), 6967-6973 (2002)
   PUBMED   11744724
REFERENCE   9  (bases 1 to 6323)
  AUTHORS   Passafaro,M., Sala,C., Niethammer,M. and Sheng,M.
  TITLE     Microtubule binding by CRIPT and its potential role in the synaptic
            clustering of PSD-95
  JOURNAL   Nat Neurosci 2 (12), 1063-1069 (1999)
   PUBMED   10570482
REFERENCE   10 (bases 1 to 6323)
  AUTHORS   Niethammer,M., Valtschanoff,J.G., Kapoor,T.M., Allison,D.W.,
            Weinberg,R.J., Craig,A.M. and Sheng,M.
  TITLE     CRIPT, a novel postsynaptic protein that binds to the third PDZ
            domain of PSD-95/SAP90
  JOURNAL   Neuron 20 (4), 693-707 (1998)
   PUBMED   9581762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291298.1 and AC018682.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014171.5.
            
            Summary: This gene encodes a protein that binds to the PDZ3 peptide
            recognition domain. The encoded protein may modulates protein
            interactions with the cytoskeleton. A mutation in this gene
            resulted in short stature with microcephaly and distinctive facies.
            [provided by RefSeq, Jun 2014].
            
            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 :: SRR7346977.2652604.1,
                                           SRR5189655.140977.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000238892.4/ ENSP00000238892.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-579               AK291298.1         28-606
            580-6323            AC018682.4         158826-164569
FEATURES             Location/Qualifiers
     source          1..6323
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..6323
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="CXXC repeat containing interactor of PDZ3 domain"
                     /db_xref="GeneID:9419"
                     /db_xref="HGNC:HGNC:14312"
                     /db_xref="MIM:604594"
     exon            1..84
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..374
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="postsynaptic protein CRIPT; cysteine-rich
                     interactor of PDZ3; cysteine-rich interactor of PDZ three"
                     /codon_start=1
                     /product="cysteine-rich PDZ-binding protein"
                     /protein_id="NP_054890.1"
                     /db_xref="CCDS:CCDS1829.1"
                     /db_xref="GeneID:9419"
                     /db_xref="HGNC:HGNC:14312"
                     /db_xref="MIM:604594"
                     /translation="MVCEKCEKKLGTVITPDTWKDGARNTTESGGRKLNENKALTSKK
                     ARFDPYGKNKFSTCRICKSSVHQPGSHYCQGCAYKKGICAMCGKKVLDTKNYKQTSV"
     exon            85..150
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            151..205
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            206..309
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /inference="alignment:Splign:2.1.0"
     exon            310..6323
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      994..999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="hexamer: AATACA"
     polyA_site      1017
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="major polyA site"
     regulatory      1083..1088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="hexamer: AATAAA"
     polyA_site      1122
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
     regulatory      1867..1872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="hexamer: AATAAA"
     regulatory      1871..1876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="hexamer: AATAAT"
     polyA_site      1889
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
     polyA_site      1893
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
     regulatory      6046..6051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
                     /note="hexamer: AATAAA"
     polyA_site      6074
                     /gene="CRIPT"
                     /gene_synonym="HSPC139; RTS3; SSMDF"
ORIGIN      
        1 gtagtgttgt tgttttcagc ctgctgctgc tgctgctgtt gcggctaggg gaaccgtcgt
       61 ggggaaggat ggtgtgcgaa aaatgtgaaa agaaacttgg tactgttatc actccagata
      121 catggaaaga tggtgctagg aataccacag aaagtggtgg aagaaagctg aatgaaaata
      181 aagctttgac ttcaaaaaaa gcaagatttg atccatatgg aaagaataag ttctccactt
      241 gtagaatttg taaaagttct gtgcaccaac caggttctca ttactgccag ggctgtgcct
      301 acaaaaaagg catctgtgcg atgtgtggaa aaaaggtttt ggataccaaa aactacaagc
      361 aaacatctgt ctagatgtat tgatggaatt tctggctttc taaatgattt tactttctgc
      421 cttgaatttt caaggcatag atgtcaactt acagaataac atgttttaag ataattaagt
      481 ttaaaccaga gaatttgatt gttactcatt ttgctctcat gttctaaaca gcaacagtgt
      541 aactagtctt ttgttgtaaa tggttatttt ccttataaga attttaagaa ctaagtggca
      601 aattccatga aaatatttct cagttctgta tgcactttta tttaacatta ttcatataat
      661 tctcccccca ccactttatt tatagatact gcaaaagtga gaaggagata atagatactt
      721 tgctctgaat ttggcatcca gagttaacat ttctcccctc actcccttgc tggtgtcata
      781 gttattagaa tcagcagcct cttaactaat tgcggtttca taggatatat aaatgtttca
      841 agccattatt gctgaatggt tctttagtta ttaacctaga cccaaatcaa agaccagttg
      901 gatttatgat attttttatt tgttcttgca gccaaagtgc cagtttcttt aatatgtgac
      961 caagaacaca aggagcatcc atatggccaa ataaatacac tgaattttag aaaaacatat
     1021 tactttgaat tcaaattgtc atgaaaacca gaacagtgtt tgtccatgtt gcatgtaatg
     1081 aaaataaatc cctgctctga gaaaagctct ttgaagcaaa aaccaaactt tttttttttt
     1141 ttttttacct cctgtcttgc cccctaaaag aaataaatag agcaaacatc ttgactctcc
     1201 ctttttaaaa tttgtttgtt tttttttttt ttttttggat acaagagctc actctgttgc
     1261 ccagggtgga gtgcagaggt atcatcaggc tctctgcagc ctccatctgc tgggctcaag
     1321 caattcttcc ccctcagcct cctaagtagc tggggactac aggcgtgtgc cactgtgctc
     1381 agctagtttt tatttttagt agagatgagg actcactatg ttgcccaagc tgttctcgaa
     1441 cttctgatct caagcaatcc tctggcctca gccttccgaa gtgctgggat acaggtgtga
     1501 gccacagaac ttggcctctc tctttttttt tttttttttt tttttttttt aacactacag
     1561 gtttcaaatg aatacttttc ttatgttgcc ttcagaggtt caggacttct gcttttaaaa
     1621 cctgcagcct accgtgggaa accaaaaaag cattccctat ttccaactgc agtatgtata
     1681 aatacatatc actacaaaat gtatagaaag tgtgatgaga tacatgaatg gcatttttat
     1741 tggtcataac attttgatga aaagcattta aagttttaac tttataaggc ttttcaaaat
     1801 gtgtttttct gagatacatt gttatttatt catatccaga aaaattacaa ggataataca
     1861 gaatataata aataatttat ctgagagcag gaagtatcct ctcatgctta atcagtttgg
     1921 ggtttttaat tataacacag gaaactcata acaggacctg gtcagagagc atcccagatc
     1981 cattaaagat tggattcatt gacttggaga aaagtacatt tctcagggat cagctagaat
     2041 ctggacttgc ctaactcaca tttcattttt tttgttgttg ttgttgtttt tataatttca
     2101 acttttattt tagatgtagg ggtacatgtg caggtgagtt atatgggtat attttgtgat
     2161 gctgaggttt ggggtacaaa tgatcctgtc acccaggtag tgagcataga gtccaacagg
     2221 tggtttttca ccccttccct cccctcttcc ctccagtagt cccctatgtc tgttctcatt
     2281 tttatgtcca tgtgtaccca ttgcttagtt cccactgata agtgagaaca tgcggtcttt
     2341 ggttttctgt tcctgtgtat attcactata atgacctcca gctgcatcca tgttgctgca
     2401 aaagacatga ttttcattct tttttatggc tgcatagtat tctgtggtgt atatgtacca
     2461 attttcttta tccagtccac tattaatgag catctaggtt gattctgtgt ctttgctgtt
     2521 gtgaatagtg ctgtgatgaa tatgtgagtg tatgtgtctt tttggtagaa caatttattt
     2581 tcatttggat ttatatccag tcatgggatt gctggttcaa atggtagttc tgttttaact
     2641 tctttgagaa atctccaaac tgctttcaca gtggctgaac taatttgcat ttccatcagt
     2701 gtaggcgcat tctacactgc actggcttct acagtgttga agcattccgt ttttcccaca
     2761 gcctcaccag catctgttat ttttttgact ttttgataat agccattctg actggtgtga
     2821 gattgtaact cattgtggtt ttgatttgca tttatctgat tagtaatgtt gagcattttt
     2881 tcatgtttgt taaccgcttg tatgttgtct tttgagaagt gtctgttcaa gtcttttggc
     2941 atttttttaa tgggtttttg tttgtgtgtg tgtatttttg tttttgtttt tgttttgaga
     3001 tggagtttca ctgttgtcac ccaggctaga gtgcaatggc accatctcag ctcactgcaa
     3061 cctccacctc ccgggttcaa gcgattctcc tgccccagcc tcctgagttg ctgggattac
     3121 aggtgcctgc caccaagcgt ggctaatttt ggtactttta gtagagacag ggtttcacca
     3181 tgttggccag cctggtctcg aattcctgac ctcaggtgat ccacccatct cagcctccca
     3241 aagtgctggg attacaggag tgagccacca cacctggcca cgagttactt ggttttcgtt
     3301 ttctgaattg ttttagttcc ttatagattt tggacattag acctttttca gatgcacagt
     3361 ttgtgaatat tctctcccat tctgtaggtt gtctgtttac tgtattgata gttccttttg
     3421 cggtgcagaa gctctttagt ttgattaggt tccacttgtc aatttttgtt tttgttgcaa
     3481 ttgcttttga ggacttagcc gtaagttctt tcccatagct gatgtccaga tgttatttcg
     3541 taggttttct tctaggactc ttatagcttg aagtcttaca tttaaatctt tttttttttt
     3601 tttccccaaa gacagagtct ccttctgttg cccaggctgg agtacagtgg tacaatcttg
     3661 gctcaccaca acctccacct cccaggctca agcgattctc atgcctcagc ctcccaacct
     3721 aactgggatt acaggcacat gccaccacgc ctggctaatt tttctatttt tagtaggaat
     3781 ggggttttac catgttggcc aggctggtct tgaattccga gcctcaagtg atccacccac
     3841 ctcagtctcc caaagtgctg ggattacagg catgagccac tgcacccggc cccttatatt
     3901 taaatcttta atctatcttg aggtaatttt atatatatgg tgaaaggggt ccagtttgag
     3961 tcttctgcat atggctagac agctgttcca gcaccattta ttgaattagg gaatcctttc
     4021 tctgttgctt atttttgtta actttgtcaa aggtcagatg gctgtaggtg tgtagcttta
     4081 tttctgtctg ttccattcca ttggtctatg ggtctgtttt tatatctgta ccatgctgtt
     4141 ttggttactg tagcttcctt atagtatagt ttaactcagg taatgtgata cctcagcttt
     4201 gttttatttg cttaggattg attttttggt tccatatgaa ttttagaatg gattttttct
     4261 tttttttttt ttttgagacg gagtcttgct gtgtctccca ggctctgagt gcagctgtgc
     4321 aatctcagct cactgcaacc tctgcctcct gagttcaagc aattctcctg cctcagcctc
     4381 ccaaatagct gggattacag gagcccgcca accatgccca gctaatttat gtaattttag
     4441 tagagatggg gtttcatcat cttagccagg ctggtcttga actcctgacg ttgtgatcca
     4501 cccgcctcag cctcccaaag tgctgggatt acaggcgtga gccactggac ccggcaggat
     4561 ttttctaatt ctgtgaaaaa tgatgtttgt agtttgatag gaatagcatt gaatctgtgg
     4621 attgctttgg gcagtatggc cattttaatg atattgattc ttctagctca tgagcttgga
     4681 atgtttttcc atttgtttgt gtcatctctg atttctttca gcgtgttttg tagttcttgt
     4741 ccagctcaca ttttatcttc atactttgag tagcctcctt ccatgaatgg atcatccagt
     4801 ggccgcactt aggttctcct atgaagattt ttgttgtatt gtacctcaga accatctcca
     4861 tattctctaa ataataataa tgatggtcat aaattgaata gaagtattta ctagatgagg
     4921 aggaaaaccc taaaacaaaa catgaacata aaatattttt aaaaggaaga catacaaaca
     4981 gacactataa ccaaataaga tgacagaatt aaggccttat gccacagcca gagttgaaaa
     5041 atgcagaaaa aaagtttaaa aacaaggaat taaagccaaa cctaactttt atcaaaataa
     5101 atgtaaaagt gatgaaagaa tctgttaaga tatcagattg taatataaaa gatactagaa
     5161 acaaatgcca atagaacact taagtacatt ttatatattc atccattaga atatatagct
     5221 gtcagaatga tagaagaatt acatatgtgt gcaaaagttt ttgtatccat gtggaaaaca
     5281 caggaagcta atagtactgt ttttctctgg agtgggtgta agggtagaga cttaactctt
     5341 tacatcctta tggcagcctt cgaatacctt ttaactccca gttcccttaa ctgggggtgt
     5401 gtatcctaga atcctcgacc cattagaaag tatattgtag acatcatact ctttaccctt
     5461 taacactaca catgcacttc ataagaacaa gcatgctgtc ttacccaagt acagctatca
     5521 agttcagaaa tttaacattg ccataatact ttacagtcca tatttcaatt tcatttgctg
     5581 ttttattggt aatttttttc agctccacga tccagcctag gatcatatgt tgtattgcca
     5641 taaccctcta atctggagca gttcctcagc ttttctttgt tttttataat agtaatatat
     5701 ttgaaaaata caggacagct aaaggataga gtatccttct atttgggttt ttctgatgtt
     5761 tcctcatggt tagattgggg tagtgcagtg agggttgaaa tgctgtaagt gatatgtatt
     5821 gcaggtatac atccagatgc acagaatgtc catttgtccc ttattggtga tgctaatttt
     5881 gatcacttgg gtaagatgtc cagtttctcc agtgtatcgt tattgttttt ccttttgcaa
     5941 ttagtgggta atttgtgagg agaaactttg agaccttgtt gacaattctg ttcctcatca
     6001 aatctacccc tcctaggttt agcatccttt gacgattctt gtctgaataa atttttacta
     6061 ggatgtttcc aaaattgtga ttgttctaac tctattatta tttctgtatt aattagtcat
     6121 cattctactg taaggaagag gtttcccttt atcatcaact tcgagtaagt acttttttct
     6181 gagccatttg aatattcctt actagatgtg gtgcctcttt accccaatta cttaagtttg
     6241 tatttccaaa gaacaagggt gttttcctgc atagccatag cacaattacc aaaatcagaa
     6301 aattaacatt aatactttac tat
//
