LOCUS       NM_001281789            2092 bp    mRNA    linear   PRI 13-DEC-2024
DEFINITION  Homo sapiens CTD nuclear envelope phosphatase 1 regulatory subunit
            1 (CNEP1R1), transcript variant 2, mRNA.
ACCESSION   NM_001281789 XM_005255887
VERSION     NM_001281789.2
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 2092)
  AUTHORS   Gao,S., Carrasquillo Rodriguez,J.W., Bahmanyar,S. and Airola,M.V.
  TITLE     Structure and mechanism of the human CTDNEP1-NEP1R1 membrane
            protein phosphatase complex necessary to maintain ER membrane
            morphology
  JOURNAL   Proc Natl Acad Sci U S A 121 (22), e2321167121 (2024)
   PUBMED   38776370
  REMARK    GeneRIF: Structure and mechanism of the human CTDNEP1-NEP1R1
            membrane protein phosphatase complex necessary to maintain ER
            membrane morphology.
REFERENCE   2  (bases 1 to 2092)
  AUTHORS   Chen,J., Hao,L., Li,C., Ye,B., Du,Y., Zhang,H., Long,B., Zhu,P.,
            Liu,B., Yang,L., Li,P., Tian,Y. and Fan,Z.
  TITLE     The endoplasmic reticulum adaptor protein ERAdP initiates NK cell
            activation via the Ubc13-mediated NF-kappaB pathway
  JOURNAL   J Immunol 194 (3), 1292-1303 (2015)
   PUBMED   25548215
  REMARK    GeneRIF: The endoplasmic reticulum adaptor protein ERAdP initiates
            NK cell activation via the Ubc13-mediated NF-kappaB pathway.
REFERENCE   3  (bases 1 to 2092)
  AUTHORS   Han,S., Bahmanyar,S., Zhang,P., Grishin,N., Oegema,K., Crooke,R.,
            Graham,M., Reue,K., Dixon,J.E. and Goodman,J.M.
  TITLE     Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly
            TMEM188) is the metazoan Spo7p ortholog and functions in the lipin
            activation pathway
  JOURNAL   J Biol Chem 287 (5), 3123-3137 (2012)
   PUBMED   22134922
  REMARK    GeneRIF: Nuclear envelope phosphatase 1-regulatory subunit 1
            (formerly TMEM188) is the metazoan Spo7p ortholog and functions in
            the lipin activation pathway.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY011229.1, AK095420.1,
            AC007610.10 and BC036683.2.
            
            On Aug 14, 2020 this sequence version replaced NM_001281789.1.
            
            Summary: This gene encodes a transmembrane protein that belongs to
            the Tmemb_18A family. A similar protein in yeast is a component of
            an endoplasmic reticulum-associated protein phosphatase complex and
            is thought to play a role in the synthesis of triacylglycerol.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (2, also known as ERAdP) lacks an
            in-frame exon in the coding region compared to variant 1. The
            encoded isoform (2) is shorter compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK095420.1, FJ516381.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427478.7/ ENSP00000394224.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 HY011229.1         21-28
            9-871               AK095420.1         1-863
            872-872             AC007610.10        173183-173183       c
            873-1273            AK095420.1         865-1265
            1274-1274           AC007610.10        172781-172781       c
            1275-1647           AK095420.1         1267-1639
            1648-1648           AC007610.10        172407-172407       c
            1649-2090           AK095420.1         1641-2082
            2091-2092           BC036683.2         2090-2091
FEATURES             Location/Qualifiers
     source          1..2092
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..2092
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /note="CTD nuclear envelope phosphatase 1 regulatory
                     subunit 1"
                     /db_xref="GeneID:255919"
                     /db_xref="HGNC:HGNC:26759"
                     /db_xref="MIM:616869"
     exon            1..116
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..469
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transmembrane protein 188; nuclear envelope phosphatase
                     1-regulatory subunit 1; nuclear envelope
                     phosphatase-regulatory subunit 1"
                     /codon_start=1
                     /product="nuclear envelope phosphatase-regulatory subunit
                     1 isoform 2"
                     /protein_id="NP_001268718.1"
                     /db_xref="CCDS:CCDS61931.1"
                     /db_xref="GeneID:255919"
                     /db_xref="HGNC:HGNC:26759"
                     /db_xref="MIM:616869"
                     /translation="MNSLEQAEDLKAFERRLTEYIHCLQPATGRWRMLLIVVSVCTAT
                     GAWNWLIDPETQKVSFFTSLWNHPFFTISCITLIGLFFAGIHKRVVAPSIIAARCRTV
                     LAEYNMSCDDTGKLILKPRPHVQ"
     exon            117..188
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     exon            189..262
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     exon            263..372
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     exon            373..427
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     exon            428..2092
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2073..2078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /note="hexamer: AATAAA"
     polyA_site      2092
                     /gene="CNEP1R1"
                     /gene_synonym="C16orf69; NEP1-R1; NEP1R1; TMEM188; TMP125"
                     /note="major polyA site"
ORIGIN      
        1 agaggtggga gttggcgctg cgggccgggc gggggccgcg gaagctgcga tgcggacagg
       61 gcagcggcgg tgacccgagc tgccgcccga catgaactcg ctggagcagg cggaagatct
      121 caaggctttt gagaggagac ttactgaata tattcattgt ttgcaacctg ctactggacg
      181 ctggagaatg cttcttatag tggtatctgt ctgtacagct actggtgcct ggaactggtt
      241 aatagaccct gagacacaaa aggtgtcctt cttcacatca ttatggaatc acccattttt
      301 caccattagc tgtatcactc taataggctt gttctttgct ggaatacaca agagagtagt
      361 tgcaccatca attatagctg ctcgatgtcg aacggtatta gcagaataca atatgtcttg
      421 tgatgataca ggaaaactaa ttttgaaacc taggcctcat gttcaatgac aatcttcact
      481 cattgttatg ggacttaaaa tagcctttct tcgaataagt gatacagcaa aaagccataa
      541 aggattcctt ttgcggttgg atatgtaaag gtcatagcag caactgacaa gaagtgtgca
      601 atatttacct ggattatctt gatgatggtg actcattatc agtgctttgg tacttttgat
      661 tacctgtgtt tcagtattag tgtcacttta gtacttcaga tcctgcaaat atttttgcag
      721 atgaagtatg tatgtatgtt actaagttaa acttagaaac agaacctcat tcagttttta
      781 taatgtattt ttgcaaacta ctgtaaatag caaatcaatg ccaatgttaa acaaagagga
      841 aaacgttgtg tggactttgt tctcttgcac cagtatttca ggaacatctg cttgccatcc
      901 ccacagctct ttaaaactgg ctattatgtg tgcctttcat tcttacattt ctaatcatac
      961 tgcaggaaaa acattggatt cagcttagac tgaggaaaac tctccattat gttgtaagaa
     1021 attatagatg ttttgagaga cactttttgt taaaccagat attgaactcc agcaactatt
     1081 gtggttatat ttttagttca ttgttctcat ttaatgctaa atatccttta tattgcttta
     1141 ataattttct tttttttttt ttttttttta gacggagtct cgctctgttg ccaggctgga
     1201 gggcagtggc acgatcttgg ctttctgcaa cctctgcctc ccaggttcaa gcgattctcc
     1261 tgcttcagcc ttctgagtag ctgggactac aggcgcatgc caccatgccc agctaatttt
     1321 tttgtatttt tagtagagac ggggtttcac cacgttggcc aggatggttt cgatctcctg
     1381 acctcgtgat cctcctgcct catcctccca aaatgctggg attacaggca taagccaccg
     1441 tgcctggcct ctttaataat ttttaaaata ccctaaaggc ttgtgaatat acaagtctac
     1501 tgataaatta tgtattgtct gggaatttga tagtcattgt tttagataac tggattttac
     1561 gctgtggtag acaggctgtg acactagtgt tgcacaggtg taattggtca tcctatgcct
     1621 tcaccagaat aacttgggag tggtgccaga aactagagtc tacaattctc actgtttaga
     1681 gagtgttaat gacatactgt gtatgcataa tagccgcatg tactataata gcccttaaaa
     1741 ttaaactatt gggattgctg taaatatttt aaagtactgg aggtgccttt tacctgttta
     1801 ttagattttg aaaaggttta aattatttca tgagcaatct tttaaatttc atttaacata
     1861 aagctgaaaa ttcaataaca ggataaaaaa gctttttaac aaggctgcca tttaacttaa
     1921 atgtgttcat cttagctttc acttgtataa aatttgattc tttgaactgc agcaataaaa
     1981 ccctcagctc ctaagaagtc ttaagagggt attctatata ttctgctttg ttttattttc
     2041 tgtaaatttt gtaggtaaat atgtgcatta aaaataaata ctttatatat aa
//
