LOCUS       NM_016302               2187 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens cereblon (CRBN), transcript variant 1, mRNA.
ACCESSION   NM_016302
VERSION     NM_016302.4
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 2187)
  AUTHORS   Hatakeyama,K., Kikushige,Y., Ishihara,D., Yamamoto,S., Kawano,G.,
            Tochigi,T., Miyamoto,T., Sakoda,T., Christoforou,A., Kunisaki,Y.,
            Fukata,M., Kato,K., Ito,T., Handa,H. and Akashi,K.
  TITLE     Thrombospondin-1 is an endogenous substrate of cereblon responsible
            for immunomodulatory drug-induced thromboembolism
  JOURNAL   Blood Adv 8 (3), 785-796 (2024)
   PUBMED   38163319
  REMARK    GeneRIF: Thrombospondin-1 is an endogenous substrate of cereblon
            responsible for immunomodulatory drug-induced thromboembolism.
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Ayvat,P., Diniz,G., Gulmez,H., Arslan Yurtlu,D., Asar,K.,
            Katircioglu,K., Ece,C. and Sofuoglu,Z.
  TITLE     Incidence of cereblon protein in intensive care patients: a
            cross-sectional study
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (13), 6081-6091 (2023)
   PUBMED   37458657
  REMARK    GeneRIF: Incidence of cereblon protein in intensive care patients:
            a cross-sectional study.
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Ichikawa,S., Flaxman,H.A., Xu,W., Vallavoju,N., Lloyd,H.C.,
            Wang,B., Shen,D., Pratt,M.R. and Woo,C.M.
  TITLE     The E3 ligase adapter cereblon targets the C-terminal cyclic imide
            degron
  JOURNAL   Nature 610 (7933), 775-782 (2022)
   PUBMED   36261529
  REMARK    GeneRIF: The E3 ligase adapter cereblon targets the C-terminal
            cyclic imide degron.
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Kim,M.J., Lee,J.S., Kim,J.Y., Choi,B., Son,J., Min,Y., Jeong,S.K.,
            Kim,D.H., Lee,J.S., Chun,E. and Lee,K.Y.
  TITLE     CRBN is downregulated in lung cancer and negatively regulates TLR2,
            4 and 7 stimulation in lung cancer cells
  JOURNAL   Clin Transl Med 12 (9), e1050 (2022)
   PUBMED   36164994
  REMARK    GeneRIF: CRBN is downregulated in lung cancer and negatively
            regulates TLR2, 4 and 7 stimulation in lung cancer cells.
REFERENCE   5  (bases 1 to 2187)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   6  (bases 1 to 2187)
  AUTHORS   Higgins,J.J., Hao,J., Kosofsky,B.E. and Rajadhyaksha,A.M.
  TITLE     Dysregulation of large-conductance Ca2+-activated K+ channel
            expression in nonsyndromal mental retardation due to a cereblon
            p.R419X mutation
  JOURNAL   Neurogenetics 9 (3), 219-223 (2008)
   PUBMED   18414909
  REMARK    GeneRIF: Nonsense mutation (R419X) CRBN disturbs the development of
            adult brain BK(Ca) isoforms. These changes are predicted to result
            in BK(Ca) channels with a higher intracellular Ca(2+) sensitivity,
            faster activation, and slower deactivation kinetics.
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Xin,W., Xiaohua,N., Peilin,C., Xin,C., Yaqiong,S. and Qihan,W.
  TITLE     Primary function analysis of human mental retardation related gene
            CRBN
  JOURNAL   Mol Biol Rep 35 (2), 251-256 (2008)
   PUBMED   17380424
  REMARK    GeneRIF: This may suggest new functions of CRBN in cell nucleolus
            besides its mitochondria protease activity in cytoplasm.
REFERENCE   8  (bases 1 to 2187)
  AUTHORS   Higgins,J.J., Pucilowska,J., Lombardi,R.Q. and Rooney,J.P.
  TITLE     A mutation in a novel ATP-dependent Lon protease gene in a kindred
            with mild mental retardation
  JOURNAL   Neurology 63 (10), 1927-1931 (2004)
   PUBMED   15557513
  REMARK    GeneRIF: A nonsense mutation causing a premature stop codon in CRBN
            was found in a large kindred with mild mental retardation.
            ATP-dependent degradation of proteins may play a role in memory and
            learning.
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (bases 1 to 2187)
  AUTHORS   Higgins,J.J., Rosen,D.R., Loveless,J.M., Clyman,J.C. and Grau,M.J.
  TITLE     A gene for nonsyndromic mental retardation maps to chromosome
            3p25-pter
  JOURNAL   Neurology 55 (3), 335-340 (2000)
   PUBMED   10932263
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017419.1, BX647351.1 and
            AC024060.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 18, 2020 this sequence version replaced NM_016302.3.
            
            Summary: This gene encodes a protein related to the Lon protease
            protein family. In rodents and other mammals this gene product is
            found in the cytoplasm localized with a calcium channel membrane
            protein, and is thought to play a role in brain development.
            Mutations in this gene are associated with autosomal recessive
            nonsyndromic cognitive disability. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1).
            
            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 :: BC059171.1, AK058191.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231948.9/ ENSP00000231948.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1357              BC017419.1         15-1371
            1358-2105           BX647351.1         3700-4447
            2106-2106           AC024060.6         107756-107756
            2107-2186           BX647351.1         4449-4528
            2187-2187           AC024060.6         107837-107837
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.2"
     gene            1..2187
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="cereblon"
                     /db_xref="GeneID:51185"
                     /db_xref="HGNC:HGNC:30185"
                     /db_xref="MIM:609262"
     exon            1..71
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             5..1333
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein x 0001"
                     /codon_start=1
                     /product="protein cereblon isoform 1"
                     /protein_id="NP_057386.2"
                     /db_xref="CCDS:CCDS2562.1"
                     /db_xref="GeneID:51185"
                     /db_xref="HGNC:HGNC:30185"
                     /db_xref="MIM:609262"
                     /translation="MAGEGDQQDAAHNMGNHLPLLPAESEEEDEMEVEDQDSKEAKKP
                     NIINFDTSLPTSHTYLGADMEEFHGRTLHDDDSCQVIPVLPQVMMILIPGQTLPLQLF
                     HPQEVSMVRNLIQKDRTFAVLAYSNVQEREAQFGTTAEIYAYREEQDFGIEIVKVKAI
                     GRQRFKVLELRTQSDGIQQAKVQILPECVLPSTMSAVQLESLNKCQIFPSKPVSREDQ
                     CSYKWWQKYQKRKFHCANLTSWPRWLYSLYDAETLMDRIKKQLREWDENLKDDSLPSN
                     PIDFSYRVAACLPIDDVLRIQLLKIGSAIQRLRCELDIMNKCTSLCCKQCQETEITTK
                     NEIFSLSLCGPMAAYVNPHGYVHETLTVYKACNLNLIGRPSTEHSWFPGYAWTVAQCK
                     ICASHIGWKFTATKKDMSPQKFWGLTRSALLPTIPDTEDEISPDKVILCL"
     exon            72..178
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            179..381
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            382..531
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            532..691
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            692..754
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            755..839
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            840..955
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1020
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1152
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..2187
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="hexamer: AACAAA"
     polyA_site      1381
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="major polyA site"
     regulatory      2163..2168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="hexamer: AGTAAA"
     polyA_site      2187
                     /gene="CRBN"
                     /gene_synonym="MRT2; MRT2A"
                     /note="major polyA site"
ORIGIN      
        1 agacatggcc ggcgaaggag atcagcagga cgctgcgcac aacatgggca accacctgcc
       61 gctcctgcct gcagagagtg aggaagaaga tgaaatggaa gttgaagacc aggatagtaa
      121 agaagccaaa aaaccaaaca tcataaattt tgacaccagt ctgccgacat cacatacata
      181 cctaggtgct gatatggaag aatttcatgg caggactttg cacgatgacg acagctgtca
      241 ggtgattcca gttcttccac aagtgatgat gatcctgatt cccggacaga cattacctct
      301 tcagcttttt caccctcaag aagtcagtat ggtgcggaat ttaattcaga aagatagaac
      361 ctttgctgtt cttgcataca gcaatgtaca ggaaagggaa gcacagtttg gaacaacagc
      421 agagatatat gcctatcgag aagaacagga ttttggaatt gagatagtga aagtgaaagc
      481 aattggaaga caaaggttca aagtccttga gctaagaaca cagtcagatg gaatccagca
      541 agctaaagtg caaattcttc ccgaatgtgt gttgccttca accatgtctg cagttcaatt
      601 agaatccctc aataagtgcc agatatttcc ttcaaaacct gtctcaagag aagaccaatg
      661 ttcatataaa tggtggcaga aataccagaa gagaaagttt cattgtgcaa atctaacttc
      721 atggcctcgc tggctgtatt ccttatatga tgctgagacc ttaatggaca gaatcaagaa
      781 acagctacgt gaatgggatg aaaatctaaa agatgattct cttccttcaa atccaataga
      841 tttttcttac agagtagctg cttgtcttcc tattgatgat gtattgagaa ttcagctcct
      901 taaaattggc agtgctatcc agcgacttcg ctgtgaatta gacattatga ataaatgtac
      961 ttccctttgc tgtaaacaat gtcaagaaac agaaataaca accaaaaatg aaatattcag
     1021 tttatcctta tgtgggccga tggcagctta tgtgaatcct catggatatg tgcatgagac
     1081 acttactgtg tataaggctt gcaacttgaa tctgataggc cggccttcta cagaacacag
     1141 ctggtttcct gggtatgcct ggactgttgc ccagtgtaag atctgtgcaa gccatattgg
     1201 atggaagttt acggccacca aaaaagacat gtcacctcaa aaattttggg gcttaacgcg
     1261 atctgctctg ttgcccacga tcccagacac tgaagatgaa ataagtccag acaaagtaat
     1321 actttgcttg taaacagatg tgatagagat aaagttatct aacaaattgg ttatattcta
     1381 agatctgctt tggaaattat tgcctctgat acatacctaa gtaaacataa cattaatacc
     1441 taagtaaaca taacattact tggagggttg cagtttctaa gtgaaactgt atttgaaact
     1501 tttaagtata ctttaggaaa caagcatgaa cggcagtcta gaataccaga aacatctact
     1561 tgggtagctt ggtgccatta tcctgtggaa tctgatatgt ctggtagcat gtcattgatg
     1621 ggacatgaag acatctttgg aaatgatgag attatttcct gtgttaaaaa aaaaaaaaat
     1681 cttaaattcc tacaatgtga aactgaaact aataatttga tcctgatgta tgggacagcg
     1741 tatctgtacc agtgctctaa ataacaaaag ctagggtgac aagtacatgt tccttttgga
     1801 aagaagcaag gcaatgtata ttaattattc taaaagggct ttgttccttt ccattttctt
     1861 taacttctct gagatactga tttgtaaatt ttgaaaatta gttaaaatat gcagtttttt
     1921 gagcccacga atagttgtca tttcctttat gtgcctgtta gtaaaaagta gtattgtgta
     1981 tttgctcagt atctgaacta taagcccatt tatactgttc catacaaaag ctatttttca
     2041 aaaattaatt tgaaccaaaa ctactactat agggaaaaga tgccaaaaca tgtcccctca
     2101 cccagactaa acttgatact gtattatttt gttcaatgta aattgaagaa aatctgtaag
     2161 taagtaaacc ttaagtgtga aactaaa
//
