LOCUS       NM_004837               2895 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens geranylgeranyl diphosphate synthase 1 (GGPS1),
            transcript variant 1, mRNA.
ACCESSION   NM_004837
VERSION     NM_004837.4
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 2895)
  AUTHORS   Muehlebach,M.E. and Holstein,S.A.
  TITLE     Geranylgeranyl diphosphate synthase: Role in human health, disease
            and potential therapeutic target
  JOURNAL   Clin Transl Med 13 (1), e1167 (2023)
   PUBMED   36650113
  REMARK    GeneRIF: Geranylgeranyl diphosphate synthase: Role in human health,
            disease and potential therapeutic target.
            Review article
REFERENCE   2  (bases 1 to 2895)
  AUTHORS   Kaiyrzhanov,R., Perry,L., Rocca,C., Zaki,M.S., Hosny,H., Araujo
            Martins Moreno,C., Phadke,R., Zaharieva,I., Camelo Gontijo,C.,
            Beetz,C., Pini,V., Movahedinia,M., Zanoteli,E., DiTroia,S.,
            Vuillaumier-Barrot,S., Isapof,A., Mehrjardi,M.Y.V., Ghasemi,N.,
            Sarkozy,A., Muntoni,F., Whalen,S., Vona,B., Houlden,H. and
            Maroofian,R.
  TITLE     GGPS1-associated muscular dystrophy with and without hearing loss
  JOURNAL   Ann Clin Transl Neurol 9 (9), 1465-1474 (2022)
   PUBMED   35869884
  REMARK    GeneRIF: GGPS1-associated muscular dystrophy with and without
            hearing loss.
REFERENCE   3  (bases 1 to 2895)
  AUTHORS   Wang,Z., Chen,M., Pan,X., Wang,L., Yin,C., Lin,Q., Jiang,J.,
            Zhang,Y. and Wan,B.
  TITLE     Knockout of GGPPS1 restrains rab37-mediated autophagy in response
            to ventilator-induced lung injury
  JOURNAL   Hum Cell 35 (3), 871-884 (2022)
   PUBMED   35334098
  REMARK    GeneRIF: Knockout of GGPPS1 restrains rab37-mediated autophagy in
            response to ventilator-induced lung injury.
REFERENCE   4  (bases 1 to 2895)
  AUTHORS   Zhou,W., van Rooij,J.G.J., Ebeling,P.R., Verkerk,A.J.M.H. and
            Zillikens,M.C.
  TITLE     The Genetics of Atypical Femur Fractures-a Systematic Review
  JOURNAL   Curr Osteoporos Rep 19 (2), 123-130 (2021)
   PUBMED   33587247
  REMARK    GeneRIF: The Genetics of Atypical Femur Fractures-a Systematic
            Review.
REFERENCE   5  (bases 1 to 2895)
  AUTHORS   Foley,A.R., Zou,Y., Dunford,J.E., Rooney,J., Chandra,G., Xiong,H.,
            Straub,V., Voit,T., Romero,N., Donkervoort,S., Hu,Y., Markello,T.,
            Horn,A., Qebibo,L., Dastgir,J., Meilleur,K.G., Finkel,R.S., Fan,Y.,
            Mamchaoui,K., Duguez,S., Nelson,I., Laporte,J., Santi,M.,
            Malfatti,E., Maisonobe,T., Touraine,P., Hirano,M., Hughes,I.,
            Bushby,K., Oppermann,U., Bohm,J., Jaiswal,J.K., Stojkovic,T. and
            Bonnemann,C.G.
  TITLE     GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian
            Insufficiency Syndrome
  JOURNAL   Ann Neurol 88 (2), 332-347 (2020)
   PUBMED   32403198
  REMARK    GeneRIF: GGPS1 Mutations Cause Muscular Dystrophy/Hearing
            Loss/Ovarian Insufficiency Syndrome.
REFERENCE   6  (bases 1 to 2895)
  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   7  (bases 1 to 2895)
  AUTHORS   Kainou,T., Kawamura,K., Tanaka,K., Matsuda,H. and Kawamukai,M.
  TITLE     Identification of the GGPS1 genes encoding geranylgeranyl
            diphosphate synthases from mouse and human
  JOURNAL   Biochim Biophys Acta 1437 (3), 333-340 (1999)
   PUBMED   10101267
REFERENCE   8  (bases 1 to 2895)
  AUTHORS   Kuzuguchi,T., Morita,Y., Sagami,I., Sagami,H. and Ogura,K.
  TITLE     Human geranylgeranyl diphosphate synthase. cDNA cloning and
            expression
  JOURNAL   J Biol Chem 274 (9), 5888-5894 (1999)
   PUBMED   10026212
REFERENCE   9  (bases 1 to 2895)
  AUTHORS   Ericsson,J., Greene,J.M., Carter,K.C., Shell,B.K., Duan,D.R.,
            Florence,C. and Edwards,P.A.
  TITLE     Human geranylgeranyl diphosphate synthase: isolation of the cDNA,
            chromosomal mapping and tissue expression
  JOURNAL   J Lipid Res 39 (9), 1731-1739 (1998)
   PUBMED   9741684
REFERENCE   10 (bases 1 to 2895)
  AUTHORS   Ericsson,J., Runquist,M., Thelin,A., Andersson,M., Chojnacki,T. and
            Dallner,G.
  TITLE     Distribution of prenyltransferases in rat tissues. Evidence for a
            cytosolic all-trans-geranylgeranyl diphosphate synthase
  JOURNAL   J Biol Chem 268 (2), 832-838 (1993)
   PUBMED   8419360
  REMARK    GeneRIF: Evidence for a non-membrane bound isoform of
            geranylgeranyl diphosphate synthase 1 in rat.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF057698.1, AK025139.1 and
            AL391994.28.
            
            On Jul 15, 2019 this sequence version replaced NM_004837.3.
            
            Summary: This gene is a member of the prenyltransferase family and
            encodes a protein with geranylgeranyl diphosphate (GGPP) synthase
            activity. The enzyme catalyzes the synthesis of GGPP from farnesyl
            diphosphate and isopentenyl diphosphate. GGPP is an important
            molecule responsible for the C20-prenylation of proteins and for
            the regulation of a nuclear hormone receptor. Alternate
            transcriptional splice variants, both protein-coding and
            non-protein-coding, have been found for this gene. [provided by
            RefSeq, Sep 2010].
            
            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.
            
            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 :: SRR1803614.183298.1,
                                           SRR1803616.150507.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282841.9/ ENSP00000282841.5
            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
            1-1460              AF057698.1         7-1466
            1461-1561           AK025139.1         1461-1561
            1562-2895           AL391994.28        125273-126606
FEATURES             Location/Qualifiers
     source          1..2895
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     gene            1..2895
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /note="geranylgeranyl diphosphate synthase 1"
                     /db_xref="GeneID:9453"
                     /db_xref="HGNC:HGNC:4249"
                     /db_xref="MIM:606982"
     exon            1..209
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /inference="alignment:Splign:2.1.0"
     exon            210..302
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..1135
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /EC_number="2.5.1.1"
                     /EC_number="2.5.1.10"
                     /EC_number="2.5.1.29"
                     /note="isoform A is encoded by transcript variant 1;
                     geranylgeranyl pyrophosphate synthase; GGPPSase; GGPP
                     synthase; geranyltranstransferase;
                     farnesyltranstransferase; dimethylallyltranstransferase;
                     farnesyl diphosphate synthase; (2E,6E)-farnesyl
                     diphosphate synthase"
                     /codon_start=1
                     /product="geranylgeranyl pyrophosphate synthase isoform A"
                     /protein_id="NP_004828.1"
                     /db_xref="GeneID:9453"
                     /db_xref="HGNC:HGNC:4249"
                     /db_xref="MIM:606982"
                     /translation="MEKTQETVQRILLEPYKYLLQLPGKQVRTKLSQAFNHWLKVPED
                     KLQIIIEVTEMLHNASLLIDDIEDNSKLRRGFPVAHSIYGIPSVINSANYVYFLGLEK
                     VLTLDHPDAVKLFTRQLLELHQGQGLDIYWRDNYTCPTEEEYKAMVLQKTGGLFGLAV
                     GLMQLFSDYKEDLKPLLNTLGLFFQIRDDYANLHSKEYSENKSFCEDLTEGKFSFPTI
                     HAIWSRPESTQVQNILRQRTENIDIKKYCVHYLEDVGSFEYTRNTLKELEAKAYKQID
                     ARGGNPELVALVKHLSKMFKEENE"
     exon            303..373
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /inference="alignment:Splign:2.1.0"
     exon            374..2895
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1436..1441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /note="hexamer: AATAAA"
     polyA_site      1460
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /note="major polyA site"
     regulatory      2867..2872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
                     /note="hexamer: ATTAAA"
     polyA_site      2895
                     /gene="GGPS1"
                     /gene_synonym="GGPPS; GGPPS1; MDHLO; MUDHLOV"
ORIGIN      
        1 agtgtgaccg ggatggcgca ttttcttgca ccaactaatg cggtgtcgct ggcggctgag
       61 gagggcggag agttctgtgg tgaaatagtg ggaaggattc atgtaggcat cgggaagagc
      121 ctaagtccac attataaaat aggaagttga tgcggggtac agttactccc ggaccggcgg
      181 cgtgaaagtc gtgatatcat cgttgaacta ttagctttga agtttaaatc caatggagaa
      241 gactcaagaa acagtccaaa gaattcttct agaaccctat aaatacttac ttcagttacc
      301 aggtaaacaa gtgagaacca aactttcaca ggcatttaat cattggctga aagttccaga
      361 ggacaagcta cagattatta ttgaagtgac agaaatgttg cataatgcca gtttactcat
      421 cgatgatatt gaagacaact caaaactccg acgtggcttt ccagtggccc acagcatcta
      481 tggaatccca tctgtcatca attctgccaa ttacgtgtat ttccttggct tggagaaagt
      541 cttaaccctt gatcacccag atgcagtgaa gctttttacc cgccagcttt tggaactcca
      601 tcagggacaa ggcctagata tttactggag ggataattac acttgtccca ctgaagaaga
      661 atataaagct atggtgctgc agaaaacagg tggactgttt ggattagcag taggtctcat
      721 gcagttgttc tctgattaca aagaagattt aaaaccgcta cttaatacac ttgggctctt
      781 tttccaaatt agggatgatt atgctaatct acactccaaa gaatatagtg aaaacaaaag
      841 tttttgtgaa gatctgacag agggaaagtt ctcatttcct actattcatg ctatttggtc
      901 aaggcctgaa agcacccagg tgcagaatat cttgcgccag agaacagaaa acatagatat
      961 aaaaaaatac tgtgtacatt atcttgagga tgtaggttct tttgaataca ctcgtaatac
     1021 ccttaaagag cttgaagcta aagcctataa acagattgat gcacgtggtg ggaaccctga
     1081 gctagtagcc ttagtaaaac acttaagtaa gatgttcaaa gaagaaaatg aataatgtta
     1141 agccattctt gattggacct catagcttat tttagttaat cttttttttg tcttttagcc
     1201 ttaccacctt ttaaaaaatt tgttattctc cagaaacagt aaataggtga gtaggggtgg
     1261 tgcaagtgaa ttcgttttca tttagaagcc cctctgtaca gataatcaaa attcaaagtt
     1321 gaaagaatca aaagcagcca cagttatgta ggtctgattt gaatgtcata attgcagtga
     1381 caggacattg ccaccaactc tatcctacta ccatcaatgt tgtgtttatt ccgtcaataa
     1441 aaaagacttg cttccaggaa tttttatcca tacactttct aactgtacta tctgggcagt
     1501 tccaagccag tttctattag ctagctggac caaagaccac aaatctcttt ttttcctaaa
     1561 cgctgctgta aggaatatct cacttttccc cccggaaaca ccctcactga agtcttctat
     1621 gaaaaggctg ataatgggct gggcgcggtg gctcacgcct gtaatcccag cactttggga
     1681 ggccgaggcg ggcagatcac gaggtcagga gatcgagacc atcctgacac ggtgaaaccc
     1741 tgtctctact aaaaatacaa aaaattagct gggcgtggtg gtgggcgcct gtagtcccag
     1801 ctactcggga ggctgaggca ggagaatggt gtgaacccag gaggcggagc ttgcagtgag
     1861 ccgagatagt gcctctgcac tccagcctgg gtgacagagc gagactccgt ctcaaaaaaa
     1921 agggctgata atgataaaca gtgagcactc cggtcctttt tcttaggttt tccttttttc
     1981 cttcctctcc accccacaag ttttgctttt taaccaaggt gtctctgctt gatgaaattc
     2041 acatgctagt ctaaatcttt ttttctccct tgtaacattt atgtgcccca aactggttag
     2101 tatatgggta cagcattccc tttccaattg ggaagcggaa aaagagagta tgggatattt
     2161 tagaagggag cctttgaacc ttattatatt tccccatcat tgatagtgac aatcttaaaa
     2221 gggttgtttt cttaccttaa gtacaaaagc atggaaaaat gcgcttttcc ttcccgccca
     2281 catcaccacc ccgacttgaa gacagtaggt gcttgaatgg aaagtgagta ggcatcttta
     2341 atcgccctga ttaaaggaaa gtgttagcct gagagggcct gactgaaaag taaccaaagg
     2401 cttaatatca aacactaatt agctttttag tgccttaacc ctgacctggt taccagtttt
     2461 ctgtagtttc tacacccaag ccactgaagt catctgtggc ccaagaggta ggacaaaaaa
     2521 aaaaaaaaaa aaagctgatt tcaatatttg atttgttgac atcccaaaat gaaagtttta
     2581 tgtttccctt agaaacatgt tttgcttggt tctatagtat gttacttagg atctatttac
     2641 catatatttg tatgagaaat cctcacccaa gcattcaacc taaatctttg aaaagttggg
     2701 tgctgtcttt agtaactttt aaaatagttt aaatctccca ttttaatagt gataaggaaa
     2761 cctgttaaaa tcatggctat tgatgttata gtatggaaag ttgaacttta tgaacccata
     2821 cttttaaaaa gcatttttaa aaatctaaca ctgactatag aaacaaatta aaatgtctac
     2881 ctttaagtat aaaaa
//
