LOCUS       NM_001029891            1690 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.
ACCESSION   NM_001029891 NM_001024459 XM_497185
VERSION     NM_001029891.3
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 1690)
  AUTHORS   Jin,Q., Pan,H., Wang,B., Wang,J., Liu,T., Yu,X., Jia,C., Fang,X.,
            Peng,Y. and Ma,X.
  TITLE     The PGAM4 gene in non-obstructive azoospermia
  JOURNAL   Syst Biol Reprod Med 59 (4), 179-183 (2013)
   PUBMED   23631659
  REMARK    GeneRIF: PGAM4 coding region mutations were not observed and the
            G75C polymorphism is not associated with non-obstructive
            azoospermia susceptibility among the Chinese Han population.
REFERENCE   2  (bases 1 to 1690)
  AUTHORS   Okuda,H., Tsujimura,A., Irie,S., Yamamoto,K., Fukuhara,S.,
            Matsuoka,Y., Takao,T., Miyagawa,Y., Nonomura,N., Wada,M. and
            Tanaka,H.
  TITLE     A single nucleotide polymorphism within the novel sex-linked
            testis-specific retrotransposed PGAM4 gene influences human male
            fertility
  JOURNAL   PLoS One 7 (5), e35195 (2012)
   PUBMED   22590500
  REMARK    GeneRIF: PGAM4, an X-linked retrogene, is a fundamental gene in
            human male reproduction and may escape meiotic sex chromosome
            inactivation.
REFERENCE   3  (bases 1 to 1690)
  AUTHORS   Kim,S.C., Sprung,R., Chen,Y., Xu,Y., Ball,H., Pei,J., Cheng,T.,
            Kho,Y., Xiao,H., Xiao,L., Grishin,N.V., White,M., Yang,X.J. and
            Zhao,Y.
  TITLE     Substrate and functional diversity of lysine acetylation revealed
            by a proteomics survey
  JOURNAL   Mol Cell 23 (4), 607-618 (2006)
   PUBMED   16916647
REFERENCE   4  (bases 1 to 1690)
  AUTHORS   Marques,A.C., Dupanloup,I., Vinckenbosch,N., Reymond,A. and
            Kaessmann,H.
  TITLE     Emergence of young human genes after a burst of retroposition in
            primates
  JOURNAL   PLoS Biol 3 (11), e357 (2005)
   PUBMED   16201836
REFERENCE   5  (bases 1 to 1690)
  AUTHORS   Betran,E., Wang,W., Jin,L. and Long,M.
  TITLE     Evolution of the phosphoglycerate mutase processed gene in human
            and chimpanzee revealing the origin of a new primate gene
  JOURNAL   Mol Biol Evol 19 (5), 654-663 (2002)
   PUBMED   11961099
REFERENCE   6  (bases 1 to 1690)
  AUTHORS   Dierick,H.A., Mercer,J.F. and Glover,T.W.
  TITLE     A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is
            localized within the human Menkes disease gene (ATP7 A)
  JOURNAL   Gene 198 (1-2), 37-41 (1997)
   PUBMED   9370262
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF465731.1, U76194.1,
            BG875904.1 and AL772330.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001029891.2.
            
            Summary: This intronless gene appears to have arisen from a
            retrotransposition event, yet it is thought to be an expressed,
            protein-coding gene. The encoded protein is a member of the
            phosphoglycerate mutase family, a set of enzymes that catalyze the
            transfer of a phosphate group from 3-phosphoglycerate to
            2-phosphoglycerate. [provided by RefSeq, May 2010].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BX365308.2, BF304193.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000458128.3/ ENSP00000412189.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-226               AF465731.1         1-226
            227-571             U76194.1           486-830
            572-688             BG875904.1         424-540
            689-1678            U76194.1           948-1937
            1679-1690           AL772330.3         28216-28227         c
FEATURES             Location/Qualifiers
     source          1..1690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..1690
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="phosphoglycerate mutase family member 4"
                     /db_xref="GeneID:441531"
                     /db_xref="HGNC:HGNC:21731"
                     /db_xref="MIM:300567"
     exon            1..1690
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /inference="alignment:Splign:2.1.0"
     CDS             1..765
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="probable phosphoglycerate mutase 4;
                     phosphoglycerate mutase family 3; phosphoglycerate mutase
                     processed protein"
                     /codon_start=1
                     /product="phosphoglycerate mutase 4"
                     /protein_id="NP_001025062.1"
                     /db_xref="CCDS:CCDS35338.1"
                     /db_xref="GeneID:441531"
                     /db_xref="HGNC:HGNC:21731"
                     /db_xref="MIM:300567"
                     /translation="MAAYKLVLIRHGESTWNLENRFSCWYDADLSPAGHEEAKRGGQA
                     LRDAGYEFDICLTSVQKRVIRTLWTVLDAIDQMWLPVVRTWRLNERHYGGLTGLNKAE
                     TAAKHGEAQVKIWRRSYDVPPPPMEPDHPFYSNISKDRRYADLTEDQLPSYESPKDTI
                     ARALPFWNEEIVPQIKEGKRVLIAAHGNSLQGIAKHVEGLSEEAIMELNLPTGIPIVY
                     ELDKNLKPIKPMQFLGDEETVCKAIEAVAAQGKAKK"
     regulatory      1321..1326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="hexamer: ATTAAA"
     polyA_site      1341
                     /gene="PGAM4"
                     /gene_synonym="dJ1000K24.1; PGAM-B; PGAM1; PGAM3"
                     /note="major polyA site"
ORIGIN      
        1 atggccgcct acaaactggt gctgatccgg cacggcgaga gcacatggaa cctggagaac
       61 cgcttcagct gctggtacga cgccgatctg agcccggcgg gccacgagga ggcgaagcgc
      121 ggcgggcagg cgctacgaga tgctggctat gagtttgaca tctgcctcac ctcagtgcag
      181 aagagagtga tccggaccct ctggacagtg ctagatgcca ttgatcagat gtggctgcca
      241 gtggtgagga cttggcgcct caatgagcgg cactatgggg gtctaaccgg tctcaataaa
      301 gcagaaactg ctgcaaagca tggtgaggcc caggtgaaga tctggaggcg ctcctatgat
      361 gtcccaccac ctccgatgga gcccgaccat cctttctaca gcaacatcag taaggatcgc
      421 aggtatgcag acctcacaga agatcagcta ccctcctatg agagtccgaa ggatactatt
      481 gccagagctc tgcccttctg gaatgaagaa atagttcccc agatcaagga ggggaaacgt
      541 gtactgattg cagcccatgg caacagcctc cagggcattg ccaagcatgt ggagggtctc
      601 tctgaagagg ctatcatgga gctgaacctg ccgactggta ttcccatcgt ctatgaattg
      661 gacaagaact tgaagcctat caagcccatg cagtttctgg gggatgaaga gacggtgtgc
      721 aaagccatag aagctgtggc tgcccagggc aaggccaaga agtgaaggcc agcggggagg
      781 atactgtccc caggagcacc ctccctgctg gtcttgtccc tctgcccctc ccacctgcac
      841 atgtcacact gaccacatct gtagacatct tgagttgtag ctgcagatgg ggaccagtgg
      901 ctcccatttt cattttagcc attttgtcgc ctgcacccac tcccttcata caatctagtc
      961 agaatagcag ttctagagca caggttctca gtctaagctg tggaaaagct ccccttatcc
     1021 aacagagttt aaaagtagtg acttgggttt ttgtgagtgc tttgtttact aaggactttg
     1081 gggaggaaca tgctaagcca cgaccaatga ggagaagcaa cagagcctgt ctgtccccat
     1141 gagcagagtc tgtcctctgc tcttctgcag tcaggccact gcctgggggc tctagtcatt
     1201 ccagtggaag atgaatgtaa tctgcatggt gatgtgacaa ctgtttcctc cttgacccca
     1261 gaggatctgg ctctaggttg ggatcaatcc tgaatttcgt tatgtgttat atttactttt
     1321 attaaaaaag tatagtatat attaataata caaaacaata acccttctgg ggtttcttgt
     1381 ggcggttgaa atagtcccac atgtggtcat cagaaaataa gccattcctc ataccaatat
     1441 aggatcagct ccttgacctc tgaggggcag gagtgcttcc tggtgtgtgt attagaatcc
     1501 cttcctgcct tgtttcatgg cagtgaaatg cctcttggtc ctgtccaagt gtgtctttca
     1561 ctgatttctg aatcatgttc tagttgcttg accctgccac atgggcccag tgttcatctg
     1621 agcataactg tactaaatcc ttttaccaga tcagtataat aaaggagtga tgtgcaatta
     1681 aaaaaaaaaa
//
