LOCUS       NM_000175               4125 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glucose-6-phosphate isomerase (GPI), transcript
            variant 2, mRNA.
ACCESSION   NM_000175
VERSION     NM_000175.5
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 4125)
  AUTHORS   Zu,Y., Wang,H., Lin,W. and Zou,C.
  TITLE     Hereditary nonspherocytic hemolytic anemia caused by
            glucose-6-phosphate isomerase (GPI) deficiency in a Chinese
            patient: a case report
  JOURNAL   BMC Pediatr 22 (1), 461 (2022)
   PUBMED   35915427
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4125)
  AUTHORS   Sampagar,A., Gosavi,M., Kedar,P., Patel,T., Dongerdiye,R. and
            Mahantashetti,N.
  TITLE     Clinical, laboratory, and mutational profile of children with
            glucose phosphate isomerase deficiency: a single centre report
  JOURNAL   Int J Hematol 115 (2), 255-262 (2022)
   PUBMED   34704234
  REMARK    GeneRIF: Clinical, laboratory, and mutational profile of children
            with glucose phosphate isomerase deficiency: a single centre
            report.
REFERENCE   3  (bases 1 to 4125)
  AUTHORS   Jeoung,N.H., Jo,A.L. and Park,H.S.
  TITLE     Synergistic effects of autocrine motility factor and methyl
            jasmonate on human breast cancer cells
  JOURNAL   Biochem Biophys Res Commun 558, 22-28 (2021)
   PUBMED   33894674
REFERENCE   4  (bases 1 to 4125)
  AUTHORS   Ji,X. and Bian,W.
  TITLE     Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with
            Knee Osteoarthritis
  JOURNAL   Clin Lab 66 (10) (2020)
   PUBMED   33073968
  REMARK    GeneRIF: Elevated Serum Glucose-6-Phosphate Isomerase Level in
            Patients with Knee Osteoarthritis.
REFERENCE   5  (bases 1 to 4125)
  AUTHORS   Tsutsumi,S., Gupta,S.K., Hogan,V., Tanaka,N., Nakamura,K.T.,
            Nabi,I.R. and Raz,A.
  TITLE     The enzymatic activity of phosphoglucose isomerase is not required
            for its cytokine function
  JOURNAL   FEBS Lett 534 (1-3), 49-53 (2003)
   PUBMED   12527360
  REMARK    GeneRIF: The results demonstrate that the enzymatic activity of PGI
            is not essential for either receptor binding or cytokine function
            of human PGI.
REFERENCE   6  (bases 1 to 4125)
  AUTHORS   Haga,A., Niinaka,Y. and Raz,A.
  TITLE     Phosphohexose isomerase/autocrine motility
            factor/neuroleukin/maturation factor is a multifunctional
            phosphoprotein
  JOURNAL   Biochim Biophys Acta 1480 (1-2), 235-244 (2000)
   PUBMED   11004567
  REMARK    GeneRIF: PGI is a moonlighting protein that functions as a
            cytosolic enzyme involved in glycolysis and gluconeogenesis, and as
            cytokine through binding to its cell surface receptor.
REFERENCE   7  (bases 1 to 4125)
  AUTHORS   Xu,W., Lee,P. and Beutler,E.
  TITLE     Human glucose phosphate isomerase: exon mapping and gene structure
  JOURNAL   Genomics 29 (3), 732-739 (1995)
   PUBMED   8575767
REFERENCE   8  (bases 1 to 4125)
  AUTHORS   Watanabe,H., Carmi,P., Hogan,V., Raz,T., Silletti,S., Nabi,I.R. and
            Raz,A.
  TITLE     Purification of human tumor cell autocrine motility factor and
            molecular cloning of its receptor
  JOURNAL   J Biol Chem 266 (20), 13442-13448 (1991)
   PUBMED   1649192
REFERENCE   9  (bases 1 to 4125)
  AUTHORS   Walker,J.I., Faik,P. and Morgan,M.J.
  TITLE     Characterization of the 5' end of the gene for human glucose
            phosphate isomerase (GPI)
  JOURNAL   Genomics 7 (4), 638-643 (1990)
   PUBMED   2387591
REFERENCE   10 (bases 1 to 4125)
  AUTHORS   Brownstein,B.H., Silverman,G.A., Little,R.D., Burke,D.T.,
            Korsmeyer,S.J., Schlessinger,D. and Olson,M.V.
  TITLE     Isolation of single-copy human genes from a library of yeast
            artificial chromosome clones
  JOURNAL   Science 244 (4910), 1348-1351 (1989)
   PUBMED   2544027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC299841.1, BC004982.1,
            AC092073.2 and BM664761.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 16, 2018 this sequence version replaced NM_000175.4.
            
            Summary: This gene encodes a member of the glucose phosphate
            isomerase protein family. The encoded protein has been identified
            as a moonlighting protein based on its ability to perform
            mechanistically distinct functions. In the cytoplasm, the gene
            product functions as a glycolytic enzyme (glucose-6-phosphate
            isomerase) that interconverts glucose-6-phosphate and
            fructose-6-phosphate. Extracellularly, the encoded protein (also
            referred to as neuroleukin) functions as a neurotrophic factor that
            promotes survival of skeletal motor neurons and sensory neurons,
            and as a lymphokine that induces immunoglobulin secretion. The
            encoded protein is also referred to as autocrine motility factor
            based on an additional function as a tumor-secreted cytokine and
            angiogenic factor. Defects in this gene are the cause of
            nonspherocytic hemolytic anemia and a severe enzyme deficiency can
            be associated with hydrops fetalis, immediate neonatal death and
            neurological impairment. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and uses
            a downstream start codon, compared to variant 3. The encoded
            isoform (2) has a shorter N-terminus, compared to isoform 3.
            
            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 :: SRR1660809.82203.1,
                                           SRR1660809.100604.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000356487.11/
                                               ENSP00000348877.3
            multifunctional gene product(s) :: PMID: 11004567, 12527360
            RefSeq Select criteria          :: based on conservation,
                                               expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                DC299841.1         70-132
            64-2073             BC004982.1         1-2010
            2074-3868           AC092073.2         21741-23535
            3869-4125           BM664761.1         19-275              c
FEATURES             Location/Qualifiers
     source          1..4125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..4125
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /note="glucose-6-phosphate isomerase"
                     /db_xref="GeneID:2821"
                     /db_xref="HGNC:HGNC:4458"
                     /db_xref="MIM:172400"
     exon            1..193
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1748
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /EC_number="5.3.1.9"
                     /note="isoform 2 is encoded by transcript variant 2;
                     neuroleukin; autocrine motility factor; sperm antigen-36;
                     phosphoglucose isomerase; phosphohexose isomerase;
                     phosphohexomutase; hexosephosphate isomerase; hexose
                     monophosphate isomerase; phosphosaccharomutase;
                     oxoisomerase"
                     /codon_start=1
                     /product="glucose-6-phosphate isomerase isoform 2"
                     /protein_id="NP_000166.2"
                     /db_xref="CCDS:CCDS12437.1"
                     /db_xref="GeneID:2821"
                     /db_xref="HGNC:HGNC:4458"
                     /db_xref="MIM:172400"
                     /translation="MAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTL
                     NTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVA
                     LRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGS
                     DLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQET
                     ITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSL
                     WSAIGLSIALHVGFDNFEQLLSGAHWMDQHFRTTPLEKNAPVLLALLGIWYINCFGCE
                     THAMLPYDQYLHRFAAYFQQGDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFY
                     QLIHQGTKMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKSTEEARKELQ
                     AAGKSPEDLERLLPHKVFEGNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDIN
                     SFDQWGVELGKQLAKKIEPELDGSAQVTSHDASTNGLINFIKQQREARVQ"
     exon            194..284
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            285..353
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            354..473
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            474..557
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            558..704
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            705..776
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            777..821
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            822..875
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            876..936
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            937..980
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1133
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1263
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1340
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1469
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1545
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1612
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..4125
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2021..2026
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /note="hexamer: AATAAA"
     polyA_site      2040
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /note="major polyA site"
     regulatory      4101..4106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
                     /note="hexamer: AATAAA"
     polyA_site      4125
                     /gene="GPI"
                     /gene_synonym="AMF; CNSHA4; GNPI; NLK; PGI; PHI; SA-36;
                     SA36"
ORIGIN      
        1 gcttgctgcg cgctgccggc gctccttcct cctcggctcg cgtctcactc agtgtacctt
       61 ctagtcccgc catggccgct ctcacccggg acccccagtt ccagaagctg cagcaatggt
      121 accgcgagca ccgctccgag ctgaacctgc gccgcctctt cgatgccaac aaggaccgct
      181 tcaaccactt cagcttgacc ctcaacacca accatgggca tatcctggtg gattactcca
      241 agaacctggt gacggaggac gtgatgcgga tgctggtgga cttggccaag tccaggggcg
      301 tggaggccgc ccgggagcgg atgttcaatg gtgagaagat caactacacc gagggtcgag
      361 ccgtgctgca cgtggctctg cggaaccggt caaacacacc catcctggta gacggcaagg
      421 atgtgatgcc agaggtcaac aaggttctgg acaagatgaa gtctttctgc cagcgtgtcc
      481 ggagcggtga ctggaagggg tacacaggca agaccatcac ggacgtcatc aacattggca
      541 ttggcggctc cgacctggga cccctcatgg tgactgaagc ccttaagcca tactcttcag
      601 gaggtccccg cgtctggtat gtctccaaca ttgatggaac tcacattgcc aaaaccctgg
      661 cccagctgaa ccccgagtcc tccctgttca tcattgcctc caagaccttt actacccagg
      721 agaccatcac gaatgcagag acggcgaagg agtggtttct ccaggcggcc aaggatcctt
      781 ctgcagtggc gaagcacttt gttgccctgt ctactaacac aaccaaagtg aaggagtttg
      841 gaattgaccc tcaaaacatg ttcgagttct gggattgggt gggaggacgc tactcgctgt
      901 ggtcggccat cggactctcc attgccctgc acgtgggttt tgacaacttc gagcagctgc
      961 tctcgggggc tcactggatg gaccagcact tccgcacgac gcccctggag aagaacgccc
     1021 ccgtcttgct ggccctgctg ggtatctggt acatcaactg ctttgggtgt gagacacacg
     1081 ccatgctgcc ctatgaccag tacctgcacc gctttgctgc gtacttccag cagggcgaca
     1141 tggagtccaa tgggaaatac atcaccaaat ctggaacccg tgtggaccac cagacaggcc
     1201 ccattgtgtg gggggagcca gggaccaatg gccagcatgc tttttaccag ctcatccacc
     1261 aaggcaccaa gatgataccc tgtgacttcc tcatcccggt ccagacccag caccccatac
     1321 ggaagggtct gcatcacaag atcctcctgg ccaacttctt ggcccagaca gaggccctga
     1381 tgaggggaaa atcgacggag gaggcccgaa aggagctcca ggctgcgggc aagagtccag
     1441 aggaccttga gaggctgctg ccacataagg tctttgaagg aaatcgccca accaactcta
     1501 ttgtgttcac caagctcaca ccattcatgc ttggagcctt ggtcgccatg tatgagcaca
     1561 agatcttcgt tcagggcatc atctgggaca tcaacagctt tgaccagtgg ggagtggagc
     1621 tgggaaagca gctggctaag aaaatagagc ctgagcttga tggcagtgct caagtgacct
     1681 ctcacgacgc ttctaccaat gggctcatca acttcatcaa gcagcagcgc gaggccagag
     1741 tccaataaac tcgtgctcat ctgcagcctc ctctgtgact cccctttctc ttctcgtccc
     1801 tcctccccgg agccggcact gcatgttcct ggacaccacc cagagcaccc tctggttgtg
     1861 ggcttggacc acgagccctt agcagggaag gctggtctcc cccagcctaa cccccagccc
     1921 ctccatgtct atgctccctc tgtgttagaa ttggctgaag tgtttttgtg cagctgactt
     1981 ttctgaccca tgttcacgtt gttcacatcc catgtagaaa aataaagatg ccacggagga
     2041 ggttgtaggc tcagcctctg attttttttt tcctgtgatg gtgctttatg tagcagaggg
     2101 caggagcgct cagcaggacg caggctgtgc ctctgcggac acttaacact aagtggtgag
     2161 cgggtctaga gtggagcaag gtgccctgag aagacaatag tggggtgggg gcacaatcag
     2221 tcaggacggc aacttggcct gtgtcaccaa atcccaagac tgttttccac tcctcacctc
     2281 tgtgactgca gaaattggat actctgttca ctcgatggtt ctaaaaactg cattgagatt
     2341 atgtttgttt cgggtgaatt cctggacaag accgaggatg actgccatct cctggcaaga
     2401 cgctcaggta gttcttttgc tttaaaaggc agatattgaa aactggaatt tttttttttt
     2461 gagtctcgct ctgtcaccca gactggagtg cagtggtgca atctcggctc actgcaacct
     2521 ccgcctcccg ggttcaagct attctcctgc ctcagcctcc cgagtagctg ggattacacg
     2581 gcgcacacca ccatacccag ctaatttttg tatttttagt agtgaagggg ttttaccatg
     2641 ttgggcaggc tggtcttgaa ctcctgacct caggtgatct gcccgcctca gcctcccaca
     2701 gtgctgggat tacaggtatg agccaccacg cccggcccat tttttttttt tttttgacaa
     2761 cttttttttt tttttgagac agggtcttgt tccattgccc agactggagt gcagtggcat
     2821 gatcacagct cactgcagcc agtaatcctc ttgcctcagc ctcccaagta gttgagacta
     2881 caggttgtac cactatgccc tgctagtttt ttcatttttt gtagagagac gggtcttttt
     2941 tttttttgag acggagtctc gctctgtcgc ccaagctgga gtgcagtagc acggtctcag
     3001 ctcattgcaa gctccgcctc ccaggttcac gccattctcc tgcctcagac tcctgtgtag
     3061 ctgggagtac aggcacctgc caccatgccc ggctaatttt ttatatattt ttttagcaga
     3121 gacagtgtct cactgtgtta gtcaggatgg tctcgatctc ctgacctcgt gatccgcccg
     3181 cctcagcctc ccaaagtgct gggattacag gcgtgagcca ccgcgcccag caaggcgggt
     3241 cttgctgtgt ttcccagact agactggtct tgaattccag ggctcaagag atctcccacc
     3301 tcagcctccc acagtgctgg gattacaggc gtgagccgcc acacccagcc tattcaaaat
     3361 ttttttttct tagagacagg gtctttgttg cccaggctgg actgcagtga tacaatcata
     3421 gctgactgaa gcctcaaatt cccaggctaa ggtgatcttc tcacctcagc cttccaagta
     3481 gctgggtccg cagatgcatg ccagtacacc cagctcattt aaaaaaaaat ttttttcttt
     3541 tttgagagtc ttgctttgtt gcccaggctg gagtgcagtg gtgtgatctc ggctcactgc
     3601 aagctccacc tcccggcttc acgccattct cctgcctcag cctcccgagt agctgggact
     3661 acaggtgccc gccaccacac ccggctaatt ttttgtattt ttagtagaga cggggtttca
     3721 ccgtgttagc caggatggtc ttgatctcct gacctcatga tccgcctgct ttggcctccc
     3781 aaagtgctgg gattacaggc gtgagtcacc gcgcccggct cattttaaaa tttttgtaga
     3841 tcagtgtact gttgtaaaaa aaaaaaaata agaaaaataa aaaataaatt tttgtagtga
     3901 taggatccca ctgaggccag agaatagggt ctggagacaa aggagcattc acttcagcct
     3961 ctgactggtg gcaggccaag tctttattta catagggtgt aaccaaatag gaaacctcta
     4021 aagggtactt aaaccccaga ttttctacac agggcacttg cttgagcctc atcccgcttt
     4081 ctggaatgta cttttgcttc aataaatctg tgcttttgtt ccttc
//
