LOCUS       NM_015721               3744 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens gem nuclear organelle associated protein 4 (GEMIN4),
            mRNA.
ACCESSION   NM_015721 NM_015487
VERSION     NM_015721.3
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 3744)
  AUTHORS   Mohamed,A.S., Salama,A.F., Sabaa,M.A., Toraih,E. and Elshazli,R.M.
  TITLE     GEMIN4 Variants: Risk Profiling, Bioinformatics, and Dynamic
            Simulations Uncover Susceptibility to Bladder Carcinoma
  JOURNAL   Arch Med Res 55 (3), 102970 (2024)
   PUBMED   38401326
  REMARK    GeneRIF: GEMIN4 Variants: Risk Profiling, Bioinformatics, and
            Dynamic Simulations Uncover Susceptibility to Bladder Carcinoma.
REFERENCE   2  (bases 1 to 3744)
  AUTHORS   Altassan,R., Qudair,A., Alokaili,R., Alhasan,K., Faqeih,E.A.,
            Alhashem,A., Alowain,M., Alsayed,M., Rahbeeni,Z., Albadi,L.,
            Alkuraya,F.S., Anderson,E.N., Rajan,D. and Pandey,U.B.
  TITLE     Further delineation of GEMIN4 related neurodevelopmental disorder
            with microcephaly, cataract, and renal abnormalities syndrome
  JOURNAL   Am J Med Genet A 188 (10), 2932-2940 (2022)
   PUBMED   35861185
  REMARK    GeneRIF: Further delineation of GEMIN4 related neurodevelopmental
            disorder with microcephaly, cataract, and renal abnormalities
            syndrome.
REFERENCE   3  (bases 1 to 3744)
  AUTHORS   Aldhalaan,H., AlBakheet,A., AlRuways,S., AlMutairi,N.,
            AlNakiyah,M., AlGhofaili,R., Cardona-Londono,K.J., Alahmadi,K.O.,
            AlQudairy,H., AlRasheed,M.M., Colak,D., Arold,S.T. and Kaya,N.
  TITLE     A Novel GEMIN4 Variant in a Consanguineous Family Leads to
            Neurodevelopmental Impairment with Severe Microcephaly, Spastic
            Quadriplegia, Epilepsy, and Cataracts
  JOURNAL   Genes (Basel) 13 (1), 92 (2021)
   PUBMED   35052432
  REMARK    GeneRIF: A Novel GEMIN4 Variant in a Consanguineous Family Leads to
            Neurodevelopmental Impairment with Severe Microcephaly, Spastic
            Quadriplegia, Epilepsy, and Cataracts.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3744)
  AUTHORS   Cieslak,A., Galita,G., Mik,M., Dziki,L., Dziki,A., Sokolowski,I.,
            Poplawski,T. and Majsterek,I.
  TITLE     Association of GEMIN4 gene polymorphisms with the risk of
            colorectal cancer in the Polish population
  JOURNAL   Pol Przegl Chir 93 (0), 40-45 (2021)
   PUBMED   35384865
  REMARK    GeneRIF: Association of GEMIN4 gene polymorphisms with the risk of
            colorectal cancer in the Polish population.
REFERENCE   5  (bases 1 to 3744)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3744)
  AUTHORS   Friesen,W.J., Paushkin,S., Wyce,A., Massenet,S., Pesiridis,G.S.,
            Van Duyne,G., Rappsilber,J., Mann,M. and Dreyfuss,G.
  TITLE     The methylosome, a 20S complex containing JBP1 and pICln, produces
            dimethylarginine-modified Sm proteins
  JOURNAL   Mol Cell Biol 21 (24), 8289-8300 (2001)
   PUBMED   11713266
REFERENCE   7  (bases 1 to 3744)
  AUTHORS   Park,J.W., Voss,P.G., Grabski,S., Wang,J.L. and Patterson,R.J.
  TITLE     Association of galectin-1 and galectin-3 with Gemin4 in complexes
            containing the SMN protein
  JOURNAL   Nucleic Acids Res 29 (17), 3595-3602 (2001)
   PUBMED   11522829
REFERENCE   8  (bases 1 to 3744)
  AUTHORS   Pellizzoni,L., Charroux,B., Rappsilber,J., Mann,M. and Dreyfuss,G.
  TITLE     A functional interaction between the survival motor neuron complex
            and RNA polymerase II
  JOURNAL   J Cell Biol 152 (1), 75-85 (2001)
   PUBMED   11149922
REFERENCE   9  (bases 1 to 3744)
  AUTHORS   Charroux,B., Pellizzoni,L., Perkinson,R.A., Yong,J., Shevchenko,A.,
            Mann,M. and Dreyfuss,G.
  TITLE     Gemin4. A novel component of the SMN complex that is found in both
            gems and nucleoli
  JOURNAL   J Cell Biol 148 (6), 1177-1186 (2000)
   PUBMED   10725331
REFERENCE   10 (bases 1 to 3744)
  AUTHORS   Sleeman,J.E. and Lamond,A.I.
  TITLE     Newly assembled snRNPs associate with coiled bodies before
            speckles, suggesting a nuclear snRNP maturation pathway
  JOURNAL   Curr Biol 9 (19), 1065-1074 (1999)
   PUBMED   10531003
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087392.10, DB455185.1,
            BC020062.1 and BC036024.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015721.2.
            
            Summary: The product of this gene is part of a large complex
            localized to the cytoplasm, nucleoli, and to discrete nuclear
            bodies called Gemini bodies (gems). The complex functions in
            spliceosomal snRNP assembly in the cytoplasm, and regenerates
            spliceosomes required for pre-mRNA splicing in the nucleus. The
            encoded protein directly interacts with a DEAD box protein and
            several spliceosome core proteins. Alternatively spliced transcript
            variants have been described, but their biological validity has not
            been determined. [provided by RefSeq, Jul 2008].
            
            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 :: BC036024.1, SRR1803617.68203.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319004.6/ ENSP00000321706.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC087392.10        158633-158635
            4-73                DB455185.1         1-70
            74-1469             BC020062.1         1-1396
            1470-3643           AC087392.10        164202-166375
            3644-3744           BC036024.1         3545-3645
FEATURES             Location/Qualifiers
     source          1..3744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..3744
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="gem nuclear organelle associated protein 4"
                     /db_xref="GeneID:50628"
                     /db_xref="HGNC:HGNC:15717"
                     /db_xref="MIM:606969"
     exon            1..132
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..3299
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="component of gems 4; HCC-associated protein 1;
                     gemin-4"
                     /codon_start=1
                     /product="gem-associated protein 4"
                     /protein_id="NP_056536.2"
                     /db_xref="CCDS:CCDS45559.1"
                     /db_xref="GeneID:50628"
                     /db_xref="HGNC:HGNC:15717"
                     /db_xref="MIM:606969"
                     /translation="MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGR
                     PIVEALREISSAAAHSQPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGN
                     MIPTINHTILFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFF
                     LDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAM
                     LLRGLTQIQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVW
                     NSDTQNPYHQQALAEKVKEAERDVSLTSLAKLPSETIFVGCEFLHHLLREWGEELQAV
                     LRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQVVSELAECVRDFLRKTST
                     VLKNRALEDITASIAMAVIQQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFRQ
                     PDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKNKVLAGILRSWGR
                     KGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCS
                     LAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSATFMVSCLKETVWMKFSTPKEEKQF
                     LELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFIQTLEANA
                     CREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRCLSLDRKDLAIHILELLCEIV
                     SANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKLSE
                     DEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDVGNPEEVRLFSKGFLVA
                     LVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLLNLKPFAQELQLSVL
                     FLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLT
                     QEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNPSVSSLLQRAH
                     EQRFLKSIAEGIGPEERRQTLLQKMSSF"
     exon            133..3744
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3520..3525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="hexamer: CATAAA"
     polyA_site      3542
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="major polyA site"
     regulatory      3586..3591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="hexamer: ATTAAA"
     polyA_site      3607
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
     regulatory      3722..3727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
                     /note="hexamer: ATTACA"
     polyA_site      3744
                     /gene="GEMIN4"
                     /gene_synonym="HC56; HCAP1; HHRF-1; NEDMCR; p97"
ORIGIN      
        1 agcaggccta agcgcggccg ccgtggctcc tgcgtctccc atcgtgccgt gcgtcccgcg
       61 ccgcgttcga gttctcggag gggagggggc gttagccccg cgcagccgcc ggcgtcgccg
      121 ccatggacct aggacccttg aacatctgtg aagaaatgac tattctgcat ggaggcttct
      181 tgctggccga gcagctgttc caccctaagg cactggcaga attaacaaag tctgactggg
      241 aacgtgttgg acggcccatc gtggaggcct taagggagat ctcctcggct gcagcacact
      301 cccagccctt tgcctggaag aagaaagccc tgatcatcat ctgggccaag gttctgcagc
      361 cgcaccccgt gaccccgtcc gacacagaga cacggtggca ggaagacctg ttcttctcgg
      421 tgggcaacat gatccccacc atcaaccaca ccatcctctt cgagctgctc aaatccctgg
      481 aagcttctgg actctttatc cagctcctga tggccctgcc caccaccatc tgccatgcag
      541 aactagagcg ctttctggaa catgtgaccg ttgacacttc tgccgaagac gtggccttct
      601 tcctggacgt ctggtgggag gtgatgaagc acaagggtca cccgcaggac cccctgctct
      661 cccagtttag tgcaatggcc cataagtacc tgcctgcctt agatgagttc ccccatcctc
      721 caaagaggct taggtcagac ccagacgcgt gccccaccat gcccctgttg gccatgctgc
      781 tccgcgggct gacacagatc cagagtcgga tcctgggccc ggggaggaag tgctgtgcgc
      841 tggccaacct ggctgacatg ctgactgtgt ttgcgctgac agaggacgac ccccaggagg
      901 tgtctgcaac cgtgtatctg gacaaactgg ccacggtgat ctctgtgtgg aactcggaca
      961 cccagaatcc ctaccaccag caggcgctgg cagagaaggt gaaggaggca gaacgggatg
     1021 tcagcctgac ctcgctggcc aaactcccca gtgagaccat tttcgtgggc tgcgagttcc
     1081 tgcaccacct gctgcgggag tggggggagg agttgcaggc cgtgctccgc agcagccagg
     1141 ggacaagtta cgacagctac cggctgtgcg acagtctgac ttccttcagc cagaacgcga
     1201 cgctctacct gaaccgcacc agcctgtcca aggaggacag gcaggtggtc tctgagctgg
     1261 cggagtgtgt cagggacttc ctgaggaaaa cgagcacggt gctgaagaac agggccttgg
     1321 aggatatcac agcttccatt gccatggccg tcatccagca gaagatggac cgccatatgg
     1381 aagtgtgcta catttttgcc tctgagaaga agtgggcctt ctcggacgag tgggtagcct
     1441 gcctggggag taacagggcc ctcttccgac agccagactt ggtgttgagg ctgctggaaa
     1501 cagtgataga cgtcagcaca gctgacagag ccatccctga gtctcagatc cggcaggtga
     1561 tccacctgat cctggaatgt tacgcagacc tctccctgcc aggtaaaaat aaagtccttg
     1621 caggtatcct gcgttcctgg gggcgaaagg gcctctctga aaagttgctg gcttatgtgg
     1681 agggttttca ggaagacctc aatacaactt ttaaccagct cactcagagt gcctccgaac
     1741 agggcttggc aaaagctgtg gcctccgtgg cccgcctggt catagtgcac ccggaagtca
     1801 cggtgaagaa aatgtgcagc ctggctgtgg tcaatctcgg cacccacaag ttcctggccc
     1861 agattctcac tgccttccct gcccttaggt ttgtggaaga gcagggtccc aattcatctg
     1921 ccactttcat ggtgtcatgc ctcaaagaaa ccgtctggat gaagttctct acacccaagg
     1981 aagaaaagca atttttagag ctcctgaact gcctgatgag tcccgtgaaa ccccaaggga
     2041 ttccagtggc tgctcttctt gagccagacg aggtgctgaa ggaatttgtc ctgcctttct
     2101 tgaggttaga tgttgaagag gtagacctca gtctgaggat cttcatccag actctagagg
     2161 caaacgcgtg ccgagaggaa tactggctcc agacctgctc cccgtttcca ctcctcttca
     2221 gcttgtgcca gctcttggac cgcttcagca aatactggca gcttcccaag gagaagcggt
     2281 gcctctcttt ggataggaag gatctagcga tccatatcct ggagctcctg tgtgagattg
     2341 tatcagccaa tgctgagacc ttctccccgg atgtctggat caagtccctg tcctggctcc
     2401 accgcaagtt agaacagcta gactggactg tgggcctgag gctgaagagc ttcttcgagg
     2461 ggcacttcaa gtgtgaagtg ccagccacac tttttgagat ctgtaagctt tcagaagacg
     2521 agtggacctc ccaggcccac ccagggtacg gggctggcac ggggctcctg gcctggatgg
     2581 agtgctgctg cgtctccagc ggcatctcgg agaggatgct gtctctcttg gtggtggacg
     2641 tgggcaatcc tgaggaggtc agactgttca gcaaaggctt tctggtggcc ctggtgcaag
     2701 tcatgccttg gtgcagccct caggagtggc agcgccttca ccagctgacc aggagactgc
     2761 tggagaagca gctcctccat gtcccttata gcctggaata tattcagttt gttcccctgc
     2821 tcaacctgaa gccctttgcc caggagttgc aactctccgt cctcttcctg aggactttcc
     2881 agtttctctg cagccatagc tgtcgtgatt ggcttcctct ggaaggctgg aaccacgtgg
     2941 tcaaactcct ctgtggcagt ctgacccgcc tcctggactc agtcagggcg atacaggcag
     3001 ctggcccttg ggttcaagga ccagagcagg acctgaccca ggaagccctg tttgtttaca
     3061 cccaggtgtt ctgccatgct ctgcacatca tggccatgct ccacccggag gtctgtgagc
     3121 cactctacgt tttagccttg gaaaccctca cctgctatga gactttgagc aagaccaacc
     3181 cttctgtcag ctccttgctc cagagggcac acgagcagcg cttcttaaag tccattgctg
     3241 agggcatcgg ccctgaagaa cggcgccaaa ccctgttgca gaagatgagc agcttctgac
     3301 ttggcgtggg gagctgggcc ccaacatggc gggtctgcag aagatcagca gcttcttacc
     3361 tgtgcgggag cgaaaaagct gggcttcaac atggcaggtc tgtaggggtc agacccgagc
     3421 agcctggact ttacagttat gtgaaactgt ccacaaaaag tcatggcaat aatggtgtaa
     3481 agaaaatagt ttcttgggta tttgtaacgt acaaactatc ataaaaattc tcctctttcg
     3541 catctcactt tgtctcttct aagtcggcct cagcaatagc ccaggattaa atatgctctg
     3601 aaattgggtt tagtgtcttc aagatcaaat ccagccagga ggaacatgtt cataactgga
     3661 cttttccatc ctagattttg gcaaataagc ccaaagttga aaccatgtga gtggaaaaag
     3721 cattacatgg tacgtataac cccc
//
