LOCUS       NM_001199165            3447 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens centrosomal protein 112 (CEP112), transcript variant
            3, mRNA.
ACCESSION   NM_001199165
VERSION     NM_001199165.4
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 3447)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   2  (bases 1 to 3447)
  AUTHORS   Sha,Y., Wang,X., Yuan,J., Zhu,X., Su,Z., Zhang,X., Xu,X. and Wei,X.
  TITLE     Loss-of-function mutations in centrosomal protein 112 is associated
            with human acephalic spermatozoa phenotype
  JOURNAL   Clin Genet 97 (2), 321-328 (2020)
   PUBMED   31654588
  REMARK    GeneRIF: Loss-of-function mutations in centrosomal protein 112 is
            associated with human acephalic spermatozoa phenotype.
REFERENCE   3  (bases 1 to 3447)
  AUTHORS   Gopalakrishnan,C., Kamaraj,B. and Purohit,R.
  TITLE     Mutations in microRNA binding sites of CEP genes involved in cancer
  JOURNAL   Cell Biochem Biophys 70 (3), 1933-1942 (2014)
   PUBMED   25115610
REFERENCE   4  (bases 1 to 3447)
  AUTHORS   Liu,X., Zheng,Y., Zhang,W., Zhang,X., Lioyd-Jones,D.M.,
            Baccarelli,A.A., Ning,H., Fornage,M., He,K., Liu,K. and Hou,L.
  TITLE     Blood methylomics in response to arsenic exposure in a low-exposed
            US population
  JOURNAL   J Expo Sci Environ Epidemiol 24 (2), 145-149 (2014)
   PUBMED   24368509
REFERENCE   5  (bases 1 to 3447)
  AUTHORS   Kumar,A., Rajendran,V., Sethumadhavan,R. and Purohit,R.
  TITLE     CEP proteins: the knights of centrosome dynasty
  JOURNAL   Protoplasma 250 (5), 965-983 (2013)
   PUBMED   23456457
  REMARK    Review article
REFERENCE   6  (bases 1 to 3447)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
REFERENCE   7  (bases 1 to 3447)
  AUTHORS   Smith,K.R., Oliver,P.L., Lumb,M.J., Arancibia-Carcamo,I.L.,
            Revilla-Sanchez,R., Brandon,N.J., Moss,S.J. and Kittler,J.T.
  TITLE     Identification and characterisation of a Maf1/Macoco protein
            complex that interacts with GABAA receptors in neurons
  JOURNAL   Mol Cell Neurosci 44 (4), 330-341 (2010)
   PUBMED   20417281
  REMARK    GeneRIF: We report that Maf1 interacts with a novel coiled-coil
            domain containing protein that we have called Macoco.
REFERENCE   8  (bases 1 to 3447)
  AUTHORS   Sombekke,M.H., Arteta,D., van de Wiel,M.A., Crusius,J.B.,
            Tejedor,D., Killestein,J., Martinez,A., Pena,A.S., Polman,C.H. and
            Uitdehaag,B.M.
  TITLE     Analysis of multiple candidate genes in association with phenotypes
            of multiple sclerosis
  JOURNAL   Mult Scler 16 (6), 652-659 (2010)
   PUBMED   20378664
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Mult Scler. 2010 Jun;16(6):765]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006120.1, AC087302.7,
            AC007716.8, AC006440.9, AC105028.4, AC004805.1 and AA723963.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001199165.3.
            
            Summary: This gene encodes a coiled-coil domain containing protein
            that belongs to the cell division control protein 42 effector
            protein family. In neurons, it localizes to the cytoplasm of
            dendrites and is also enriched in the nucleus where it interacts
            with the RNA polymerase III transcriptional repressor Maf1 to
            regulate gamma-aminobutyric acid A receptor surface expression. In
            addition, the protein has been identified as a component of the
            human centrosome. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Nov 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.129980.1, AK299075.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000535342.7/ ENSP00000442784.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-137               AC006120.1         83538-83674
            138-251             AC006120.1         92364-92477
            252-442             AC006120.1         98651-98841
            443-615             AC006120.1         100455-100627
            616-709             AC087302.7         94820-94913         c
            710-787             AC087302.7         91896-91973         c
            788-835             AC087302.7         58735-58782         c
            836-913             AC087302.7         58401-58478         c
            914-1000            AC087302.7         32065-32151         c
            1001-1100           AC087302.7         28928-29027         c
            1101-1219           AC087302.7         25113-25231         c
            1220-1363           AC087302.7         15886-16029         c
            1364-1518           AC007716.8         153828-153982       c
            1519-1648           AC007716.8         153082-153211       c
            1649-1741           AC007716.8         152272-152364       c
            1742-1801           AC007716.8         151460-151519       c
            1802-1881           AC007716.8         129649-129728       c
            1882-2017           AC007716.8         85422-85557         c
            2018-2125           AC006440.9         8467-8574
            2126-2308           AC006440.9         33822-34004
            2309-2539           AC006440.9         84122-84352
            2540-2602           AC105028.4         40506-40568
            2603-2752           AC105028.4         48013-48162
            2753-2842           AC004805.1         133066-133155       c
            2843-2944           AC004805.1         84901-85002         c
            2945-3009           AC004805.1         81061-81125         c
            3010-3228           AC004805.1         79693-79911         c
            3229-3444           AA723963.1         8-223               c
            3445-3447           AC004805.1         79474-79476         c
FEATURES             Location/Qualifiers
     source          1..3447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.1"
     gene            1..3447
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /note="centrosomal protein 112"
                     /db_xref="GeneID:201134"
                     /db_xref="HGNC:HGNC:28514"
                     /db_xref="MIM:618980"
     exon            1..137
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            138..251
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..3013
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /note="isoform a is encoded by transcript variant 3;
                     centrosomal protein of 112 kDa; coiled-coil
                     domain-containing protein 46; centrosomal protein 112kDa"
                     /codon_start=1
                     /product="centrosomal protein of 112 kDa isoform a"
                     /protein_id="NP_001186094.1"
                     /db_xref="CCDS:CCDS32710.1"
                     /db_xref="GeneID:201134"
                     /db_xref="HGNC:HGNC:28514"
                     /db_xref="MIM:618980"
                     /translation="MEVGSEEEKWEKLDAEFDHFVVDMKPFVLKLPHRTERQRCALWI
                     RKLCEPSGTGAGIMGRKNRNLYAKLLLHMLKRGALEGPFTHRPEPGTLKILPSYMSIY
                     FDEPNPARAKGSSPEGLPAWVLGELETSEHKLNESWKLSSGEDNTLVQSPTDVYSREQ
                     YTGKLRVRSHSLSPTHREDGQNITPKICEVYSKKSPVSLDDSDIEARLNSWNLGIENP
                     RYLRQKPIPVSLMTPKFSLRKSSSFHDDHFLSRIREKELDMKTKMMEAKFHEEKLKLQ
                     QKHDADVQKILERKNNEIEELKTLYRSKQHETEETIRKLEKKVQTLIRDCQVIRETKE
                     DQIAELKKICEQSTESLNNDWEKKLHNAVAEMEQEKFDLQKQHTENIQELLEDTNVRL
                     NKMESEYMAQTQSTNHMIKELEARVQQLTGEAENSNLQRQKLIQEKAELERCYQITCS
                     ELQEVKARRNTLHKEKDHLVNDYEQNMKLLQTKYDADINLLKQEHALSASKASSMIEE
                     LEQNVCQLKQQLQESELQRKQQLRDQENKFQMEKSHLKHIYEKKAHDLQSELDKGKED
                     TQKKIHKFEEALKEKEEQLTRVTEVQRLQAQQADAALEEFKRQVELNSEKVYAEMKEQ
                     MEKVEADLTRSKSLREKQSKEFLWQLEDIRQRYEQQIVELKLEHEQEKTHLLQQHNAE
                     KDSLVRDHEREIENLEKQLRAANMEHENQIQEFKKRDAQVIADMEAQVHKLREELINV
                     NSQRKQQLVELGLLREEEKQRATREHEIVVNKLKAESEKMKIELKKTHAAETEMTLEK
                     ANSKLKQIEKEYTQKLAKSSQIIAELQTTISSLKEENSQQQLAAERRLQDVRQKFEDE
                     KKQLIRDNDQAIKVLQDELENRSNQVRCAEKKLQHKELESQEQITYIRQEYETKLKGL
                     MPASLRQELEDTISSLKSQVNFLQKRASILQEELTTYQGRR"
     exon            252..442
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            443..615
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            616..709
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            710..787
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            788..835
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            836..913
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1000
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1100
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1219
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1363
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1518
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..1648
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1741
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1801
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1881
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            1882..2017
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2125
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2308
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2309..2539
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2540..2602
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2603..2752
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2753..2842
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2843..2944
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            2945..3009
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     exon            3010..3447
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3144..3149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /note="hexamer: CATAAA"
     polyA_site      3164
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /note="major polyA site"
     regulatory      3422..3427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
                     /note="hexamer: ATTAAA"
     polyA_site      3447
                     /gene="CEP112"
                     /gene_synonym="CCDC46; MACOCO; SPGF44"
ORIGIN      
        1 gaaagtcccc gcccccgggc tgctgggcgg cggcgaccca gcggcccgca aggatttgaa
       61 accgtttggc aggggcggcg gtggcggcgg cgttggcggc agcggccgag cggaaagctt
      121 gcgtgtggtg gtgccagatt ggattatgga agtgggaagt gaagaagaaa aatgggagaa
      181 gctggatgca gaatttgatc actttgtggt tgatatgaag ccctttgttc taaaattacc
      241 tcataggaca gaacggcaga ggtgtgctct ttggattaga aagctgtgcg aaccttcagg
      301 aacaggtgca ggaataatgg ggaggaagaa tcggaacctg tatgcaaaat tgttattgca
      361 tatgcttaaa cgaggtgcgc ttgaaggccc ttttacacac cgacctgaac ccgggacact
      421 aaaaattcta ccttcataca tgtccatcta ttttgatgaa ccaaatccag cacgagcaaa
      481 aggttcaagc ccagagggat taccagcctg ggtactgggt gagctggaga caagtgaaca
      541 caaattaaat gaatcatgga aactctcttc tggagaagat aacactttag tacagtcgcc
      601 aactgatgtc tacagcaggg aacagtacac tgggaagctc cgagtgagat cacactcctt
      661 gagtccaact cacagagaag atggacaaaa tattacccca aagatttgtg aagtttattc
      721 gaaaaaatct cctgtttctt tggatgatag tgacattgaa gctcgcctta atagttggaa
      781 tcttgggata gaaaatcctc gatacctgag acagaagcct atcccagttt ctctgatgac
      841 accgaaattc agcctgagaa aatccagcag tttccatgat gatcattttc tctctcgaat
      901 acgtgagaaa gagctggaca tgaaaacaaa aatgatggaa gctaaatttc atgaagaaaa
      961 gcttaaactg caacagaaac atgatgctga tgttcagaag attttagaaa gaaagaataa
     1021 tgaaatagaa gaactgaaaa ctttatacag gagtaaacaa catgaaactg aagagactat
     1081 tagaaagctt gaaaagaaag ttcagacact gatacgtgac tgtcaagtta tcagagagac
     1141 taaagaagac cagattgcag agctgaaaaa gatatgtgaa caaagtacgg aatctctaaa
     1201 taatgactgg gaaaaaaagc ttcacaatgc tgtagcagaa atggaacagg aaaagtttga
     1261 tcttcaaaag caacacactg aaaacattca agaattgctt gaggatacaa atgtgcgtct
     1321 gaataaaatg gagagtgaat acatggcgca aacacagtcc acaaaccaca tgatcaaaga
     1381 actggaggcc cgtgtccagc agctgactgg agaagcagag aacagtaatt tacagaggca
     1441 gaaattaatt caagaaaaag cagaacttga aagatgttac cagataacgt gtagtgaatt
     1501 acaagaagta aaggcaaggc gtaacacact gcataaagag aaggaccatc ttgtaaatga
     1561 ttatgagcaa aacatgaaac tgttacaaac caaatatgat gctgatataa accttctaaa
     1621 acaagaacat gctctttcag cttctaaggc atctagtatg attgaagaat tagagcagaa
     1681 tgtctgtcaa ttaaaacagc agttacagga atcagaactt caaagaaagc aacaactaag
     1741 ggatcaagaa aataagtttc agatggagaa aagtcattta aaacacatct atgaaaaaaa
     1801 ggctcatgac ttgcagagtg aacttgataa aggaaaagaa gatactcaaa agaaaattca
     1861 taaatttgag gaagctttga aggaaaaaga ggagcagcta actcgtgtga ctgaagttca
     1921 gaggttgcag gcccagcagg cagatgccgc tctggaagag tttaagcggc aggtggaact
     1981 gaactcagag aaagtctatg ctgaaatgaa agagcagatg gaaaaagtgg aggcagatct
     2041 aactagatcc aaatctcttc gtgagaaaca atcaaaggag tttttatggc aactggagga
     2101 catcagacag cggtatgaac aacagatagt agagctgaag ctggagcatg aacaggagaa
     2161 gacgcaccta ttacagcagc ataacgcaga gaaggatagc ctagtccgag accatgaacg
     2221 ggaaattgaa aacctggaaa aacagcttcg cgctgccaat atggagcacg aaaatcaaat
     2281 tcaggagttc aagaaacgag atgcacaggt tattgccgac atggaggccc aggttcacaa
     2341 gttgagagaa gaattgatca atgtgaactc acagcggaaa cagcagctgg tagagcttgg
     2401 tcttcttcgt gaagaggaaa agcaaagggc tacaagggaa catgagattg tcgtcaataa
     2461 actgaaggct gaatcagaaa agatgaaaat agagctgaaa aagactcatg ctgctgagac
     2521 agagatgaca ctggaaaagg ccaacagcaa gctgaagcag attgagaagg aatacactca
     2581 gaagcttgcc aaatcttcac agatcatagc agaacttcag acaaccattt cctctctgaa
     2641 agaagagaac agccagcagc agcttgctgc agaaaggcgg ctccaggatg ttagacaaaa
     2701 gtttgaagat gagaagaagc agctgattag agataatgac caagcaatca aggttttaca
     2761 agatgaatta gaaaaccgtt ctaatcaggt gcgatgtgca gagaaaaaat tacaacacaa
     2821 agaattggag tcacaggaac agataactta catacgacaa gaatatgaaa caaaattgaa
     2881 aggattgatg ccagcatccc taagacaaga acttgaagac accatttcct ccctaaaatc
     2941 acaggttaat tttctgcaaa agagagcttc catccttcag gaagaactga ctacatatca
     3001 aggcagaagg taactgcacg agagaatgca acggatgcaa tttccaggct gtgctgtgga
     3061 cttcttccag caggtttgaa gatttggata ttgtaaactg tgagatcagt ggcatttttt
     3121 aaatccttaa atgtaattaa gatcataaaa acatgcatca ttcatacact agtggggtgg
     3181 ttttatttgt gtctgcctaa gttatttttt taacattcct ttatttccga ttttcatgtt
     3241 tgtgtgcatt tgagtatgtg ctgagaactg cttatattgg gcaaagtgat ttcctatgat
     3301 atgccttgtt aatccttttg catagaattt taccagttgc gtacgatcaa aatcacgttt
     3361 gtagtatcat atcaaaaatt ctaacctgtt tacattgttt tcatgttcat gttcctatgt
     3421 tattaaaata ttattttgta cttacca
//
