LOCUS       NM_001257967            6938 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens ITPR interacting domain containing 1 (ITPRID1),
            transcript variant 1, mRNA.
ACCESSION   NM_001257967
VERSION     NM_001257967.3
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 6938)
  AUTHORS   Zuo,X., Sun,L., Yin,X., Gao,J., Sheng,Y., Xu,J., Zhang,J., He,C.,
            Qiu,Y., Wen,G., Tian,H., Zheng,X., Liu,S., Wang,W., Li,W.,
            Cheng,Y., Liu,L., Chang,Y., Wang,Z., Li,Z., Li,L., Wu,J., Fang,L.,
            Shen,C., Zhou,F., Liang,B., Chen,G., Li,H., Cui,Y., Xu,A., Yang,X.,
            Hao,F., Xu,L., Fan,X., Li,Y., Wu,R., Wang,X., Liu,X., Zheng,M.,
            Song,S., Ji,B., Fang,H., Yu,J., Sun,Y., Hui,Y., Zhang,F., Yang,R.,
            Yang,S. and Zhang,X.
  TITLE     Whole-exome SNP array identifies 15 new susceptibility loci for
            psoriasis
  JOURNAL   Nat Commun 6, 6793 (2015)
   PUBMED   25854761
  REMARK    Erratum:[Nat Commun. 2018 Mar 13;9:16186. doi:
            10.1038/ncomms16186.. PMID: 29532793]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6938)
  AUTHORS   Opherk,C., Gonik,M., Duering,M., Malik,R., Jouvent,E., Herve,D.,
            Adib-Samii,P., Bevan,S., Pianese,L., Silvestri,S., Dotti,M.T., De
            Stefano,N., Liem,M., Boon,E.M., Pescini,F., Pachai,C., Bracoud,L.,
            Muller-Myhsok,B., Meitinger,T., Rost,N., Pantoni,L., Lesnik
            Oberstein,S., Federico,A., Ragno,M., Markus,H.S.,
            Tournier-Lasserve,E., Rosand,J., Chabriat,H. and Dichgans,M.
  TITLE     Genome-wide genotyping demonstrates a polygenic risk score
            associated with white matter hyperintensity volume in CADASIL
  JOURNAL   Stroke 45 (4), 968-972 (2014)
   PUBMED   24578207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005090.2 and AC006044.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 24, 2020 this sequence version replaced NM_001257967.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304387.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968832
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000615280.5/
                                                ENSP00000478518.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AC005090.2         104291-104321
            32-105              AC006044.2         23609-23682
            106-291             AC006044.2         27185-27370
            292-340             AC006044.2         28658-28706
            341-384             AC006044.2         29041-29084
            385-436             AC006044.2         43941-43992
            437-523             AC006044.2         46285-46371
            524-726             AC006044.2         48723-48925
            727-1298            AC006044.2         52046-52617
            1299-1356           AC006044.2         57317-57374
            1357-1439           AC006044.2         116359-116441
            1440-2711           AC006044.2         116865-118136
            2712-2839           AC006044.2         125325-125452
            2840-2951           AC006044.2         126122-126233
            2952-6938           AC006044.2         126701-130687
FEATURES             Location/Qualifiers
     source          1..6938
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..6938
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /note="ITPR interacting domain containing 1"
                     /db_xref="GeneID:223075"
                     /db_xref="HGNC:HGNC:27363"
     exon            1..31
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            32..105
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            106..291
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..3263
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /note="isoform 2 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 129; coiled-coil
                     domain containing 129; ITPR-interacting domain-containing
                     protein 1; protein ITPRID1"
                     /codon_start=1
                     /product="protein ITPRID1 isoform 2"
                     /protein_id="NP_001244896.2"
                     /db_xref="CCDS:CCDS5435.2"
                     /db_xref="GeneID:223075"
                     /db_xref="HGNC:HGNC:27363"
                     /translation="MMAQKSQGSDNLQEGQEKSKREILKCTKSAWAPLDEWLPPDPEE
                     ESQSLTIPMLEDSKQESIQQWLDSGFFVSANENFQQVIDRTVSLYEQGMVQMTVKDYM
                     RSLHQFSETPILSRGTSFNSCYSTASVPQSIPEWLEFWEIDPVEILLDLGFGADEPDI
                     CMQIPARFLGCGSAARGINIRVFLEAQKQRMDIENPNLYGRFRQLEILDHVTNAFSSL
                     LSDVSILPNRAEEKAGGESVQRTSVSAAKEHRRRMGKLLRRASKQNIRRDCNPEVSES
                     FKVKDEVFVPFTKPWDCGAELAATSINHKQNHLSLSVEHQSLQACDDLLPYPPHGLLS
                     KQWPCSSMPAKQAPPSCVSEGSVKGRTQKENLFQTNKLKSLSHLAGKGPDSFEMEEVQ
                     SFEEETGNPLDMTSGTVGARVDRANSCQSDSSGFLEEPLEPLPLQMPSLPNSQSPAEN
                     GGRKPRDQSHSLVSSQDCQLESDGPDSKSRASMSFSSQEANALEQRASVSVMEEEFLL
                     EAMEGPPELYIPDMACAKTTTRGECPRKDSHLWQLLPMPHAEYEVTRPTATSKYDHPL
                     GFMVTHVTEMQDSFVRPEGAGKVQSHHNESQRSPGNDHTQDKFLHVDSEAPREEESSG
                     FCPHTNHSLLVPESSSQCIPKHSEITPYATDLAQTSEKLIPHLHKLPGDPAQVKSRSG
                     TLGQILPGTEAEMENLPLNTGSSRSVMTQMSSSLVSAAQRAVALGTGPRGTSLECTVC
                     DPVTATETRLGTKARQLNDASIQTSALSNKTLTHGPQPLTKSVSLDSGFSSICPMGTC
                     HAIPAHCCICCHHHPHCHGERQSPGPEPSVCRHCLCSLTGHQEAQFMTTLKALQDTTV
                     RELCSCTVHEMEAMKTICQSFREYLEEIEQHLMGQQALFSRDMSEEEREEAEQLQTLR
                     EALRQQVAELEFQLGDRAQQIREGILLQLEVLTAEPPEHYSNLHQYNWIEESNGQTSC
                     SKIHPGMAPRTVFPPDDGQEAPCSGGTQLAAFTPPTLENSTRMSPSSSAWAKLGPTPL
                     SNCPVGEKDADVFL"
     exon            292..340
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            341..384
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            385..436
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            437..523
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            524..726
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            727..1298
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1356
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1439
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..2711
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            2712..2839
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            2840..2951
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     exon            2952..6938
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6921..6926
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /note="hexamer: AATAAA"
     polyA_site      6938
                     /gene="ITPRID1"
                     /gene_synonym="CCDC129"
                     /note="major polyA site"
ORIGIN      
        1 agatggctca ggagtggagc ttttgtggca gttcctgaca ggataaggac aagaagcaac
       61 acacagaaga gaaggaaaaa gaaagaaaac tgaccaatat gagtgttagt ttgcagaatt
      121 actctcctat gatggcacag aaatcacaag gatctgacaa ccttcaggaa ggccaggaaa
      181 agagcaagag agagatcctg aagtgcacca aaagcgcgtg ggctccgctg gatgagtggc
      241 tgccccctga ccctgaggag gaaagccaga gtctcaccat ccccatgctg gaagattcca
      301 agcaagaaag tattcagcag tggctggact ctggattctt tgtctctgca aatgaaaact
      361 ttcaacaagt cattgaccgc actgtttctt tgtatgaaca agggatggtt caaatgactg
      421 tgaaagacta catgagatct ttgcatcagt tttcagaaac tcccatccta tccagaggga
      481 ccagtttcaa ctcttgctat tctactgcaa gtgtaccaca aagcattcct gaatggctgg
      541 aattttggga gatagatcca gtggagattc tcttggatct ggggtttggt gctgatgagc
      601 cagacatctg catgcaaatc ccagccagat tccttggttg tggctcagca gccagaggaa
      661 tcaacatccg tgtttttctt gaagctcaaa agcagcgaat ggacattgag aaccccaact
      721 tgtacggtcg tttccgacag ctggaaatcc tggaccatgt gaccaatgcc ttctcatctc
      781 tgctgagtga tgtcagcatc ctgccaaaca gagctgaaga gaaagctgga ggagagagtg
      841 tgcaaagaac ctcagtgagt gccgccaaag agcatcgaag aagaatgggt aaactcttaa
      901 ggagagcttc caaacagaac atcaggcggg attgtaaccc agaggtatca gagtccttca
      961 aggtgaagga tgaagttttt gttcccttta caaaaccatg ggattgtgga gcagagctag
     1021 cagcaacctc aatcaaccac aagcaaaatc atttgtctct gtcagtagaa catcagtctc
     1081 tccaagcctg tgatgatttg ctaccttatc ctcctcatgg tcttctgagc aagcagtggc
     1141 cttgctcatc tatgccggcc aagcaggctc ctccttcctg tgtgtctgag gggtcagtca
     1201 agggcagaac tcagaaggag aacttatttc agactaacaa gctcaagagc ttgtctcatc
     1261 ttgcaggcaa aggaccagac tcatttgaaa tggaagaggt ccaaagcttt gaagaagaga
     1321 ctggtaatcc tcttgacatg acttcaggaa ctgtaggtgc cagggtggac agagcaaata
     1381 gctgccagtc tgacagcagc gggttcctgg aggagccgct ggaaccgctg cccctccaga
     1441 tgccttcctt gccaaacagc cagagtcctg ctgagaatgg aggtagaaag ccaagagatc
     1501 agagccacag cttagtatca tcccaggact gtcagctaga gtcggatggg ccagattcca
     1561 aaagtagggc gagcatgtct ttttcaagcc aagaagcgaa tgccttggaa caaagggcct
     1621 cagtatctgt gatggaggaa gagtttctgc ttgaggccat ggaggggcca ccagagctgt
     1681 atatcccaga catggcctgt gccaagacca ccacgagggg agaatgccca aggaaagaca
     1741 gccatctgtg gcagcttctg ccaatgcccc atgctgagta tgaggtcacc agacccacag
     1801 ccacttccaa atatgatcat cctctggggt ttatggtaac ccacgtcaca gaaatgcagg
     1861 acagttttgt gaggcctgag ggagctggca aagtgcaaag ccaccacaat gagtctcaaa
     1921 ggtcacctgg aaatgatcat actcaagaca agttccttca tgttgactct gaggccccac
     1981 gagaagagga aagcagtgga ttctgtcctc acaccaacca cagcttactc gtaccagaaa
     2041 gctcatcaca gtgtatcccc aagcacagtg aaatcacacc ttatgcaact gaccttgctc
     2101 aaacatctga aaagctcatt ccccacctcc ataaactgcc tggagatcct gcccaggtga
     2161 agtcaaggtc tggtactttg ggtcagatac tacctgggac agaagctgag atggaaaacc
     2221 ttcctctaaa tactggcagc tccaggtctg taatgaccca gatgtcctcc agcctggtgt
     2281 cggctgctca gagggctgtg gccttgggga ctggtcccag aggaacatct ttagaatgca
     2341 ctgtgtgtga tcctgttacc gcaacagaaa caagactggg gacaaaagca agacagttaa
     2401 atgatgcttc cattcagact tcagctctaa gcaacaagac cttgacacat gggccccagc
     2461 ccctcaccaa atccgtctct ctagactcag gcttctctag tatctgccca atgggcacct
     2521 gccatgctat acctgcccac tgctgcatct gctgtcatca ccaccctcac tgccacgggg
     2581 agaggcaaag ccctggccct gaaccctcag tctgtaggca ctgcctgtgt tcactaactg
     2641 gtcaccagga agcccagttc atgacgactt tgaaagccct tcaggacact acagtgaggg
     2701 agctatgttc ctgcacagtc catgagatgg aagccatgaa gacgatatgc caaagtttcc
     2761 gggagtattt agaagaaatt gaacagcacc ttatgggaca gcaggccctc ttttccaggg
     2821 acatgtcaga ggaggaaagg gaggaggccg agcaactgca aacgttacgt gaggccctga
     2881 ggcagcaggt ggcagagttg gaatttcagt taggagaccg ggctcagcaa atcagagaag
     2941 ggattttact gcagctggag gttctcacag cagagccacc tgaacactat tcaaatctgc
     3001 atcaatataa ctggatagaa gaaagcaatg ggcagacttc atgttctaaa atccacccag
     3061 gcatggcccc gaggactgtg tttcctcccg atgatggcca ggaggctccc tgttcaggtg
     3121 ggacccagtt ggctgccttc actccaccca ccttggagaa cagcaccagg atgtctcctt
     3181 catcatcagc ttgggcaaag ttaggtccaa cccctttgtc aaattgtcct gttggagaaa
     3241 aggatgcaga tgtcttcctc tagatcagag caggtttgtt aaccttcata caaaatataa
     3301 aggcccagaa cagatgtagc aaggaaattt caattttccc caaggagaag ggtctgccaa
     3361 cccattgtca gctatatctc tcatattcta ccctttggtt aaacccaaga ggagtttaga
     3421 atactctaat actcattcag tatagaataa ctgagcacct agtatgtgcc tggcacagag
     3481 tatgcaacag tgactaaata gtatacggtc tctgccctgc tagaacttac agtgtagtgg
     3541 gggagataga attgcaaaca aaaagtatct gagacagacc tcagtcaata tagaagttta
     3601 ttttgccaag gttaaggata cacacccaga agacaggtct gtgcctttct ccaaagatga
     3661 ttttgaggcc ttcaacattt agtggggaaa gggtgctaat ggggaaagag gtgtgggtac
     3721 ataggaggca aacagttgca tttttttgag tctgatcagc ttttctcatg agagaagggg
     3781 tagaggaact gtcacttatg cattcaccta gctcagtgga tctgcacttt tacagaaggt
     3841 aaaataaaca tagggcagag gaagcaatca gatatgcatt tgtctcgggg gagcagaggg
     3901 atggctttga gttctgttct ttgtcctgta cctattaaga gaagctatca atatactttg
     3961 tcaggataaa attcaacaga actgttttag actaaagatt ttagggacca caaggaattt
     4021 cccagtgggc aaattgtgag ggaggtattt agcttttaaa aaaatctttg tagctatctc
     4081 atttagaaat aaaatgggag gcagattgcc tgatgcagct cctaacttga cttttccctt
     4141 ttacttcata attttggggt cctgaggttt attttccttt cacagaatat aaacatgtac
     4201 gtacatttat tattaaaaac tctgaaggaa ataacaggtt ttgtgaaaga gaacacagaa
     4261 gggaatccga tttagatcaa tgttcagaca gccctggttg aggaagtaac aacagaagag
     4321 ggaaggagga tccaggcctc agaggtacca gactgtccag tcaggcagcc agtgggagta
     4381 ctgatgaaac acctactgtg tgcaggctac tattctagtg ctggagacag ccataaataa
     4441 gacagatgga ctttctactc agaaagagtt ggatgaagag taagtccaaa aaaaaaaaaa
     4501 aaaaaaccaa caagcaaata attacaatcc tgaaaagagc ctcagaagac agtgtgataa
     4561 tgttgcaaag ggagatgtgg agtaaaactg tactgcattc atcagggtgc ctgtggaagg
     4621 ccttgctaaa gggaaggcta tttgggtaag acttgaaagg tgaggaagtg gaagccaagt
     4681 gcaattttgc aaaagaacat tcaaagcaga aggaatggaa agttaacagg cccccagatg
     4741 tagagatagc cagtgctgct cagtgcggtg gggcatggag atggagggag gggaaggctg
     4801 agaggggatc ggtcagacta taggccatga ccaagtcttt gcatctgaat cctttttcca
     4861 agggtaatgg aaagccactg tgggttttaa gcagggtcgt catataatct gatttacgtt
     4921 ttgaagtcat gctggctgct ttatggagaa aacgcccctg ggggtctaca gtgaggcaga
     4981 gtgcccagct aggaggctgt tgctgtcatc cccaaggtga gaagcaaatg tcgtcaagtt
     5041 gcttctattc agccttggag gcttgtgagg ctcccacccc agtggaaatg cagggaatgg
     5101 cacacaaagg ccagaggcac tgggtctcta aggaatgggg aatagatgca gaatggaata
     5161 ggaaaaactg cttggaaaag taatgccatg agggaagttt ataatttgta tgaaaagatg
     5221 gtcaaaggag aggtcacttc ttagcaagta acctcagaaa ctaattctat tgaaaccacc
     5281 cactactcaa aaccatctca catcttgctt gcactcttcc ccttccttgc tttttggaaa
     5341 gcctttgact cagcggggcc ttcctaccct tgggaccacc acactatttt tcccatggac
     5401 ttaacattct cagagcgtgg acatccccat tctgtcctga attctcttct ctttctccat
     5461 tcctctgtcc tcagtataca cacacactct ccaagcatct atgaccctga ttcccagctc
     5521 tctccagtat cccagcccag cattttttac tgtccataag acattttgac ctggaagact
     5581 tggctgtatg tctcactctt ggctaaagct gacctggtca ttgccccaac tcagttcatc
     5641 ttcctgatcc tctctgtcag tggcacagcc tttctccttg ctgcaggctc agtgccacag
     5701 tgtgcatggt ctcctgcccc tctaccctgc cccctcagtc agtcaatgac cacaccaatg
     5761 ctgagtctac tgccacaaaa tacctcccag aagtttcctc agaacgaatt acctggcgac
     5821 agtgcaacat aggtgcttcc taactgcctc cagccacctt ctctccaaac tgcactggcc
     5881 tctgccaggt tgggctctct cagccaccat gtgggtcata tttgctggat ctacagtgaa
     5941 tacccagaaa gtacttttag aataagccag agaatgagag agaaatcaca ggatcatact
     6001 tcccagagca gccttccacc agaaataaaa gtccaggccc tggagttatt atgcgcctct
     6061 cgtcgcctcc cactgcatca tccctttttg ccacatcccc atcttggctc ctatatcatg
     6121 gctcagctcc cagccaaatt gactcctgat gcattgcatt tgtgcctcca aatcgtttcc
     6181 cttgctaaac tcctaagctt tttactcttt acccaggttg ggcttttgac ctccccttct
     6241 ccatgtagac tccgagctct cctgcagttt cttccttgct ccttccctgt aacgcctacg
     6301 gaatgaagag gaacacctgg ctctaggatg tccctcacct ggcagccatc tgctttacca
     6361 gtctcatttc ctgctcatcc ctcagatgaa tctccaattc tattccccta aaccacctcc
     6421 tgtgttcctg cttcctctcc tttgctgaaa caaatgaagt atctcaccag taagtcctag
     6481 ggcagacccc atctcctaca caggctttcc ttgatgatct gtggcagaag tgatccttat
     6541 tttttgaaac tcctatatca ctttgctttt ttgttaaaac actgaaaacc tcctgtcttg
     6601 tgttaccatt atctgtgtag gtcatatctt ctctagtaaa cttaaagcta tttgaggact
     6661 gtgtagtacc tactaccctg tgtttaagag agactatctg gaggaaagta cagactcctt
     6721 tctttatcat gtgtgacctc gggcacttgc tctctttacc ctagtttctt cctctgtaaa
     6781 atagggagaa gaaaaacaac atagagttgt tggacagaat aaataccatg aatcctgtgc
     6841 agtgtttaat ccaatgtcca tcacgtagta agtgttcaat gcatgttggc tattattaca
     6901 agtgcacata ccaagaactc aataaatgct aactgtaa
//
