LOCUS       NM_001493               2240 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.
ACCESSION   NM_001493
VERSION     NM_001493.3
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 2240)
  AUTHORS   Liu,L., Liu,L., Lu,Y., Zhang,T. and Zhao,W.
  TITLE     GDP dissociation inhibitor 1 (GDI1) attenuates beta-amyloid-induced
            neurotoxicity in Alzheimer's diseases
  JOURNAL   Neurosci Lett 818, 137564 (2024)
   PUBMED   38013121
  REMARK    GeneRIF: GDP dissociation inhibitor 1 (GDI1) attenuates
            beta-amyloid-induced neurotoxicity in Alzheimer's diseases.
REFERENCE   2  (bases 1 to 2240)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2240)
  AUTHORS   Zhang,Z.D., Li,H.X., Gan,H., Tang,Z., Guo,Y.Y., Yao,S.Q., Liuyu,T.,
            Zhong,B. and Lin,D.
  TITLE     RNF115 Inhibits the Post-ER Trafficking of TLRs and TLRs-Mediated
            Immune Responses by Catalyzing K11-Linked Ubiquitination of RAB1A
            and RAB13
  JOURNAL   Adv Sci (Weinh) 9 (16), e2105391 (2022)
   PUBMED   35343654
REFERENCE   4  (bases 1 to 2240)
  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   5  (bases 1 to 2240)
  AUTHORS   Xie,X., Lin,H., Zhang,X., Song,P., He,X., Zhong,J. and Shi,J.
  TITLE     Overexpression of GDP dissociation inhibitor 1 gene associates with
            the invasiveness and poor outcomes of colorectal cancer
  JOURNAL   Bioengineered 12 (1), 5595-5606 (2021)
   PUBMED   34515625
  REMARK    GeneRIF: Overexpression of GDP dissociation inhibitor 1 gene
            associates with the invasiveness and poor outcomes of colorectal
            cancer.
REFERENCE   6  (bases 1 to 2240)
  AUTHORS   Nishimura,N., Goji,J., Nakamura,H., Orita,S., Takai,Y. and Sano,K.
  TITLE     Cloning of a brain-type isoform of human Rab GDI and its expression
            in human neuroblastoma cell lines and tumor specimens
  JOURNAL   Cancer Res 55 (22), 5445-5450 (1995)
   PUBMED   7585614
REFERENCE   7  (bases 1 to 2240)
  AUTHORS   Bachner,D., Sedlacek,Z., Korn,B., Hameister,H. and Poustka,A.
  TITLE     Expression patterns of two human genes coding for different rab
            GDP-dissociation inhibitors (GDIs), extremely conserved proteins
            involved in cellular transport
  JOURNAL   Hum Mol Genet 4 (4), 701-708 (1995)
   PUBMED   7543319
REFERENCE   8  (bases 1 to 2240)
  AUTHORS   Shisheva,A., Sudhof,T.C. and Czech,M.P.
  TITLE     Cloning, characterization, and expression of a novel GDP
            dissociation inhibitor isoform from skeletal muscle
  JOURNAL   Mol Cell Biol 14 (5), 3459-3468 (1994)
   PUBMED   7513052
REFERENCE   9  (bases 1 to 2240)
  AUTHORS   Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and
            Vandekerckhove,J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   10 (bases 1 to 2240)
  AUTHORS   Matsui,Y., Kikuchi,A., Araki,S., Hata,Y., Kondo,J., Teranishi,Y.
            and Takai,Y.
  TITLE     Molecular cloning and characterization of a novel type of
            regulatory protein (GDI) for smg p25A, a ras p21-like GTP-binding
            protein
  JOURNAL   Mol Cell Biol 10 (8), 4116-4122 (1990)
   PUBMED   2115118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA133083.1 and BC000317.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001493.2.
            
            Summary: GDP dissociation inhibitors are proteins that regulate the
            GDP-GTP exchange reaction of members of the rab family, small
            GTP-binding proteins of the ras superfamily, that are involved in
            vesicular trafficking of molecules between cellular organelles.
            GDIs slow the rate of dissociation of GDP from rab proteins and
            release GDP from membrane-bound rabs. GDI1 is expressed primarily
            in neural and sensory tissues. Mutations in GDI1 have been linked
            to X-linked nonspecific cognitive disability. [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 :: HM005621.1, SRR3476690.997560.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447750.7/ ENSP00000394071.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                DA133083.1         179-237
            60-2240             BC000317.2         1-2181
FEATURES             Location/Qualifiers
     source          1..2240
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2240
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /note="GDP dissociation inhibitor 1"
                     /db_xref="GeneID:2664"
                     /db_xref="HGNC:HGNC:4226"
                     /db_xref="MIM:300104"
     exon            1..146
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1445
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /note="rab GDP-dissociation inhibitor, alpha; GDI-1;
                     protein XAP-4; rab GDI alpha; oligophrenin-2; guanosine
                     diphosphate dissociation inhibitor 1; testis secretory
                     sperm-binding protein Li 208a"
                     /codon_start=1
                     /product="rab GDP dissociation inhibitor alpha"
                     /protein_id="NP_001484.1"
                     /db_xref="CCDS:CCDS35452.1"
                     /db_xref="GeneID:2664"
                     /db_xref="HGNC:HGNC:4226"
                     /db_xref="MIM:300104"
                     /translation="MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESS
                     SITPLEELYKRFQLLEGPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDF
                     KVVEGSFVYKGGKIYKVPSTETEALASNLMGMFEKRRFRKFLVFVANFDENDPKTFEG
                     VDPQTTSMRDVYRKFDLGQDVIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLAR
                     YGKSPYLYPLYGLGELPQGFARLSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVAR
                     CKQLICDPSYIPDRVRKAGQVIRIICILSHPIKNTNDANSCQIIIPQNQVNRKSDIYV
                     CMISYAHNVAAQGKYIAIASTTVETTDPEKEVEPALELLEPIDQKFVAISDLYEPIDD
                     GCESQVFCSCSYDATTHFETTCNDIKDIYKRMAGTAFDFENMKRKQNDVFGEAEQ"
     exon            147..254
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            255..354
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            355..489
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            490..688
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            689..820
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            821..920
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1092
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1237
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1292
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..2240
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2219..2224
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /note="hexamer: AATAAA"
     polyA_site      2240
                     /gene="GDI1"
                     /gene_synonym="1A; GDIL; MRX41; MRX48; OPHN2; RABGD1A;
                     RABGDIA; XAP-4; XLID41"
                     /note="major polyA site"
ORIGIN      
        1 atctttggtc cagtgcggtg gcggcggcgg cggtggcggc ggcgactgct gcggtgaagg
       61 aggaggagga gccgagcggg cgctggcacc gaggcctgac catggacgag gaatacgatg
      121 tgatcgtgct ggggaccggt ctcaccgaat gcatcctgtc gggcatcatg tctgtgaacg
      181 ggaagaaggt gctgcacatg gaccggaacc cctactacgg gggcgagagc tcctccatca
      241 cacccctgga ggagctgtat aagcgttttc agttgctgga ggggccccct gagtcgatgg
      301 gccgaggccg agactggaat gttgacctga ttcccaaatt cctcatggct aacgggcagc
      361 tggtaaagat gctactgtat acagaggtga ctcgctacct ggacttcaag gtggtggagg
      421 gcagctttgt ctacaagggg ggcaagatct acaaagtgcc gtccactgag actgaggcct
      481 tggcttccaa tctgatgggc atgtttgaga aacggcgctt ccgcaagttc ctggtgtttg
      541 tggcaaactt cgatgagaat gaccccaaga cctttgaggg cgttgacccc cagactacca
      601 gcatgcgtga cgtctaccgg aagtttgatc tgggccagga tgtcatcgat ttcactggcc
      661 atgccctggc gctctaccgc actgatgact acctggacca gccctgcctt gagaccgtca
      721 accgcatcaa gttgtacagt gagtccctgg cccggtatgg caagagccca tatttatacc
      781 cgctctacgg cttgggcgag ctgccccagg gttttgcaag attgagtgcc atctatgggg
      841 ggacatatat gctgaacaaa cctgtggatg acatcatcat ggagaacggc aaggtggtgg
      901 gcgtgaagtc tgagggagag gtggcccgct gcaagcagct gatctgtgac cccagctaca
      961 tcccggaccg tgtgcggaag gctggccagg ttatccgcat catctgtatc cttagccacc
     1021 ccatcaagaa caccaacgac gccaactcct gccaaataat catcccccag aaccaggtca
     1081 acaggaagtc agacatctac gtgtgcatga tctcctatgc acacaacgtg gcggcccagg
     1141 gcaagtacat agctattgcc agcactactg tggagaccac ggaccctgaa aaggaggtgg
     1201 agccggctct ggagctgttg gagcccattg accagaagtt tgtggctatc agtgacttgt
     1261 atgagcccat tgatgatggt tgtgagagcc aggtgttctg ttcctgctcc tacgatgcca
     1321 ccacacactt tgagacaacc tgcaacgaca tcaaagacat ctacaaacgc atggctggca
     1381 cggcctttga ctttgagaac atgaagcgca aacagaacga cgtctttgga gaagctgagc
     1441 agtgattgtg gccgccccca gcccctgctg ccccagcctg tgtctgttct cctcgagggc
     1501 tccagcatcc tctgcttccc ccaccacgtt cccatcaccc acctcattga tccactgacc
     1561 aaatccttaa ccctagcgat ggcttgggag atggggggtt ggatagcatc ctctttcttg
     1621 gcccttcctt atcctaggaa aagagggttc ctctccttgt gtgtgtctct tccccccacc
     1681 cctaattctt ctgctctgtt tgggaagacg tggaggaaaa ggtgacttct gcccccaccg
     1741 ctcttacccc cactgtagtg gcctttggag atgcccccac ctccccccca ccaactctcg
     1801 cgtgttggag agaaggggcc ctcccagcac aaagttgcat tcctcccccc taatttattc
     1861 taatttatta actttgaccc accctttctg agcctgcagc cttcccgtgt ggcctgaggg
     1921 ctgtcgagtg agctgcccca gcccctccca gcccttgccc agcctggggg agtggggaag
     1981 gcttgggcat ggccccgttg gaggttgatt tgctgttttg tttcttgtct ttgtgttctg
     2041 tggtacttgc tgagagaaaa gaaaagtgag ccaagcagaa ggaggtggga aaacggaccc
     2101 aaaccccagt gtgccctgcc ccatgccttt cctttagtgg tgggaaaccc ttatcttgca
     2161 aagtgaatgt gtccccttcc ccaccctcta gtgtatttca cagaaaacaa aacctcccaa
     2221 taaaacggtt gaaacctgaa
//
