LOCUS       NM_021965               3626 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.
ACCESSION   NM_021965 XM_936702
VERSION     NM_021965.4
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 3626)
  AUTHORS   Molt,S., Buhrdel,J.B., Yakovlev,S., Schein,P., Orfanos,Z.,
            Kirfel,G., Winter,L., Wiche,G., van der Ven,P.F., Rottbauer,W.,
            Just,S., Belkin,A.M. and Furst,D.O.
  TITLE     Aciculin interacts with filamin C and Xin and is essential for
            myofibril assembly, remodeling and maintenance
  JOURNAL   J Cell Sci 127 (Pt 16), 3578-3592 (2014)
   PUBMED   24963132
  REMARK    GeneRIF: Aciculin interacts with filamin C and Xin and is essential
            for myofibril assembly.
REFERENCE   2  (bases 1 to 3626)
  AUTHORS   Lee,H.J., Woo,H.G., Greenwood,T.A., Kripke,D.F. and Kelsoe,J.R.
  TITLE     A genome-wide association study of seasonal pattern mania
            identifies NF1A as a possible susceptibility gene for bipolar
            disorder
  JOURNAL   J Affect Disord 145 (2), 200-207 (2013)
   PUBMED   22925353
REFERENCE   3  (bases 1 to 3626)
  AUTHORS   Wakayama,Y., Inoue,M., Kojima,H., Murahashi,M., Shibuya,S.,
            Yamashita,S. and Oniki,H.
  TITLE     Aciculin and its relation to dystrophin: immunocytochemical studies
            in human normal and Duchenne dystrophy quadriceps muscles
  JOURNAL   Acta Neuropathol 99 (6), 654-662 (2000)
   PUBMED   10867799
REFERENCE   4  (bases 1 to 3626)
  AUTHORS   Moiseeva,E.P. and Critchley,D.R.
  TITLE     Characterisation of the promoter which regulates expression of a
            phosphoglucomutase-related protein, a component of the
            dystrophin/utrophin cytoskeleton predominantly expressed in smooth
            muscle
  JOURNAL   Eur J Biochem 248 (3), 634-643 (1997)
   PUBMED   9342213
REFERENCE   5  (bases 1 to 3626)
  AUTHORS   Moiseeva,E.P., Belkin,A.M., Spurr,N.K., Koteliansky,V.E. and
            Critchley,D.R.
  TITLE     A novel dystrophin/utrophin-associated protein is an enzymatically
            inactive member of the phosphoglucomutase superfamily
  JOURNAL   Eur J Biochem 235 (1-2), 103-113 (1996)
   PUBMED   8631316
REFERENCE   6  (bases 1 to 3626)
  AUTHORS   Edwards,Y.H., Putt,W., Fox,M. and Ives,J.H.
  TITLE     A novel human phosphoglucomutase (PGM5) maps to the centromeric
            region of chromosome 9
  JOURNAL   Genomics 30 (2), 350-353 (1995)
   PUBMED   8586438
REFERENCE   7  (bases 1 to 3626)
  AUTHORS   Belkin,A.M. and Burridge,K.
  TITLE     Localization of utrophin and aciculin at sites of cell-matrix and
            cell-cell adhesion in cultured cells
  JOURNAL   Exp Cell Res 221 (1), 132-140 (1995)
   PUBMED   7589238
REFERENCE   8  (bases 1 to 3626)
  AUTHORS   Belkin,A.M. and Burridge,K.
  TITLE     Association of aciculin with dystrophin and utrophin
  JOURNAL   J Biol Chem 270 (11), 6328-6337 (1995)
   PUBMED   7890770
REFERENCE   9  (bases 1 to 3626)
  AUTHORS   Belkin,A.M., Klimanskaya,I.V., Lukashev,M.E., Lilley,K.,
            Critchley,D.R. and Koteliansky,V.E.
  TITLE     A novel phosphoglucomutase-related protein is concentrated in
            adherens junctions of muscle and nonmuscle cells
  JOURNAL   J Cell Sci 107 (Pt 1), 159-173 (1994)
   PUBMED   8175905
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353608.20, BC033073.1, AI078570.1, AL710966.1, AA709405.1,
            AL137698.1 and AI374906.1.
            
            On Nov 23, 2018 this sequence version replaced NM_021965.3.
            
            Summary: Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are
            phosphotransferases involved in interconversion of
            glucose-1-phosphate and glucose-6-phosphate. PGM activity is
            essential in formation of carbohydrates from glucose-6-phosphate
            and in formation of glucose-6-phosphate from galactose and glycogen
            (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.66321.1,
                                           SRR1660807.244398.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396396.6/ ENSP00000379678.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-288               AL353608.20        136059-136346
            289-414             BC033073.1         1-126
            415-812             AI078570.1         89-486
            813-1676            BC033073.1         525-1388
            1677-2055           AL710966.1         193-571
            2056-2300           AA709405.1         1-245               c
            2301-3584           AL137698.1         2707-3990
            3585-3626           AI374906.1         4-45                c
FEATURES             Location/Qualifiers
     source          1..3626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.11"
     gene            1..3626
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /note="phosphoglucomutase 5"
                     /db_xref="GeneID:5239"
                     /db_xref="HGNC:HGNC:8908"
                     /db_xref="MIM:600981"
     exon            1..778
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             518..2221
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /note="phosphoglucomutase-related protein; PGM-RP;
                     aciculin"
                     /codon_start=1
                     /product="phosphoglucomutase-like protein 5"
                     /protein_id="NP_068800.2"
                     /db_xref="CCDS:CCDS6622.2"
                     /db_xref="GeneID:5239"
                     /db_xref="HGNC:HGNC:8908"
                     /db_xref="MIM:600981"
                     /translation="MEGSPIPVLTVPTAPYEDQRPAGGGGLRRPTGLFEGQRNYLPNF
                     IQSVLSSIDLRDRQGCTMVVGSDGRYFSRTAIEIVVQMAAANGIGRLIIGQNGILSTP
                     AVSCIIRKIKAAGGIILTASHCPGGPGGEFGVKFNVANGGPAPDVVSDKIYQISKTIE
                     EYAICPDLRIDLSRLGRQEFDLENKFKPFRVEIVDPVDIYLNLLRTIFDFHAIKGLLT
                     GPSQLKIRIDAMHGVMGPYVRKVLCDELGAPANSAINCVPLEDFGGQHPDPNLTYATT
                     LLEAMKGGEYGFGAAFDADGDRYMILGQNGFFVSPSDSLAIIAANLSCIPYFRQMGVR
                     GFGRSMPTSMALDRVAKSMKVPVYETPAGWRFFSNLMDSGRCNLCGEESFGTGSDHLR
                     EKDGLWAVLVWLSIIAARKQSVEEIVRDHWAKFGRHYYCRFDYEGLDPKTTYYIMRDL
                     EALVTDKSFIGQQFAVGSHVYSVAKTDSFEYVDPVDGTVTKKQGLRIIFSDASRLIFR
                     LSSSSGVRATLRLYAESYERDPSGHDQEPQAVLSPLIAIALKISQIHERTGRRGPTVI
                     T"
     exon            779..941
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1088
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1214
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1405
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1560
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1676
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..1812
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1996
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2131
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     exon            2132..3626
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3603..3608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /note="hexamer: AAGAAA"
     polyA_site      3626
                     /gene="PGM5"
                     /gene_synonym="PGMRP"
                     /note="major polyA site"
ORIGIN      
        1 gcactcccag ggagacaggg agacgggccg ggcgccggag aggaacccgg actctgccca
       61 aagtctcgcc gcccgccggc tgttttctgg cggagggtgt gccccggagg gcggcgatcg
      121 cgggtgaagg ctggggccag gcgcgggtgg aggcgtcacc ggggtcgggc tagcaggccc
      181 tggaatcagg cttttgggac accccgaaag tgagtccaac ttggggagaa actgagggca
      241 gctcgggcgg tctggcagcg gagaaggtgg gtgggagaaa actttacagg aaggcagaag
      301 caatctctgc cgagagagtc agccgagcgg ccgcgcggag aggaggggcg ggcggtcccc
      361 aggcgggcgg gtgcagggcg cagggcgccg acctgctgga gagggggccc gggcgcgagg
      421 cggagtcccg gcgcgcagcc aggctggtgg aggcccccgg caggctgcag attccctccg
      481 gctccgggag ccgcagcagg accggccagg aggcgccatg gaggggagcc ccatcccggt
      541 gctgacagtg cccaccgcgc cctacgagga ccagcggccg gccggcggcg ggggtctgcg
      601 gcgacccacc ggcctcttcg agggccagcg caactacctg cccaacttta tccagagcgt
      661 gctgtcgtcc atcgacctgc gcgaccgtca gggctgcacc atggtggtgg gcagcgacgg
      721 caggtacttt agcaggacgg ccatcgagat cgtggtgcag atggccgcgg ccaacgggat
      781 tggacgactg attattggac agaatggcat cttgtcgaca cctgcggtct cctgcattat
      841 caggaagatc aaggcagctg gtggaatcat tctaacagcc agccactgcc ctggaggacc
      901 agggggagag tttggagtga agtttaatgt tgccaatgga ggtcctgcac ccgatgttgt
      961 ctcagacaaa atctaccaaa tcagcaaaac gattgaggaa tatgctatat gtcctgatct
     1021 ccgaatcgac ctatctcgac taggaagaca agaatttgac ctagaaaaca aattcaaacc
     1081 attcagagtg gagatagtgg acccagtgga tatctatctt aacctccttc ggaccatctt
     1141 tgactttcat gccatcaagg gtttgctgac tggacccagc caactgaaga ttcgcattga
     1201 cgcaatgcac ggagttatgg gaccttatgt gagaaaagtt ctgtgtgatg agctgggggc
     1261 cccagccaat tctgcaataa actgtgttcc cctggaagac tttggagggc agcaccctga
     1321 cccaaacctg acatatgcaa cgactcttct ggaagcaatg aaaggaggag aatatggatt
     1381 tggagctgca tttgatgctg atggggaccg ttatatgatc ctaggccaaa atggcttctt
     1441 tgtgagccct tctgactccc tggccatcat tgctgccaac ctctcttgca ttccatattt
     1501 ccgtcagatg ggggtccgcg ggtttgggag gagtatgcca accagcatgg ccctggacag
     1561 agtggccaaa tcaatgaagg tccctgtata tgagacccca gctggatgga gattcttctc
     1621 aaatctgatg gactcaggac gttgcaatct gtgtggggaa gagagctttg gcactggctc
     1681 tgaccacctc cgagagaagg atggcctgtg ggctgtcttg gtctggctct ccattattgc
     1741 tgcccggaag cagagtgtgg aggaaattgt ccgagatcac tgggccaaat ttggccgcca
     1801 ctactattgc aggtttgact atgaggggtt ggatcccaag acgacatatt atatcatgag
     1861 ggacctggag gccctggtca cagacaaatc cttcattggc cagcagtttg ctgtggggag
     1921 ccatgtctac agcgtggcga agacggatag ttttgaatac gtggaccctg tggatggcac
     1981 tgtgaccaag aaacagggcc taaggatcat tttctcggat gcatcacggc tcatcttccg
     2041 gctcagttcc tccagtggtg tgcgggccac cctcagactg tacgcagaga gctacgagag
     2101 ggatcccagc ggccatgacc aggagccaca ggcagtgctg agccctctca tagccatcgc
     2161 actgaaaata tcccagattc atgagagaac tggccggagg ggacccactg tcatcacctg
     2221 aatagaggaa agatcactca ccagggccaa agagagtgct cagcgggaga tgcttcactg
     2281 atgccttctt gctacctgtt tgtgcctctt atgactttgg aaaaacaaaa gatattttgc
     2341 ttttggggga tagagggtgg gtgggaaaag aaaaaaaatc catttggttt tggttttgtc
     2401 ctattcctcc aaatgcagca gggcctttag ttgtctgtta aagctgcact ataatttggt
     2461 atctacattt tatcacacaa aggaacctcc ccttttgaca acaactgggc taggcagctg
     2521 ttaatcacaa catttgtgca tcacttgtgc caagtgagaa aatgttctaa aatcacaaga
     2581 gagaacagtg ccagaatgaa actgacccta agtcccaggt gcccctgggc aggcagaagg
     2641 agacactccc agcatggagg agggtttatc ttttcatcct aggtcaggtc tacaatgggg
     2701 gaaggtttta ttatagaact cccaacagcc cacctcactc ctgccaccca cccgatggcc
     2761 ctgcctcccc catcccatcc ccaacatccc tgtaccacct tctctcacat cttctaaagc
     2821 tttgtacaaa tcacaatggt gcacttccaa caaaatatat caataggtgt tttcctctct
     2881 tattttgtaa atagtattat tttagctatt aagctggata ccttctttca aattcagcca
     2941 ttcagttgta aagttgggaa gaagtttctt gacaagactc tgcaattaaa tgcttaaaat
     3001 ttggagggga tccttccttg attacatcaa gtatgttggt acatgggttt atacaagttc
     3061 ctcttgagaa ggcaaaaaga ccaccatgtg tgagagctct ttgacttggc caataggggc
     3121 ctatcttaat gcacttgttt ggacacattt ctgatcttat ttgtaaaggc tgcaaaagga
     3181 gaggatgaaa tgctgtaaaa gtaggaaatg aagtggaagc tggaagaaaa tgtaattggt
     3241 ggtacagcta tgggccagat ggtggagggg agggtgggga cccctgccgg caagcagagt
     3301 gtcacagctg gctttcctca cttgggaaaa gggtactgcc ggtctagcag cctcctctgt
     3361 actcagccag gacacccagc gcgtgggacc tgtttgtgtc tgttttgctt ccttgggaac
     3421 ggcacagtca ctcaccctgc catttgcgga aatgacctgg tgcactttga ctgttaagca
     3481 atgcgttatt gctgtagtca aggttagtgc aagcaaggaa acattcccag taaggtattt
     3541 gtttccattt tctgtctgtg cttctgtcag aaacttgcta ggacatttag tggccaataa
     3601 aaaagaaatt cctaatttca acctta
//
