LOCUS       NM_001242699            2878 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens enolase 4 (ENO4), mRNA.
ACCESSION   NM_001242699 XM_001721847 XM_003118956 XM_003119472 XM_003120660
            XM_370577 XM_939821
VERSION     NM_001242699.2
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 2878)
  AUTHORS   Nawaz,S., Hussain,S., Bilal,M., Syed,N., Liaqat,K., Ullah,I.,
            Akil,A.A., Fakhro,K.A. and Ahmad,W.
  TITLE     A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4)
            causes human male infertility
  JOURNAL   J Gene Med 26 (1), e3583 (2024)
   PUBMED   37640479
  REMARK    GeneRIF: A variant in sperm-specific glycolytic enzyme enolase 4
            (ENO4) causes human male infertility.
REFERENCE   2  (bases 1 to 2878)
  AUTHORS   Taylor,K.D., Guo,X., Zangwill,L.M., Liebmann,J.M., Girkin,C.A.,
            Feldman,R.M., Dubiner,H., Hai,Y., Samuels,B.C., Panarelli,J.F.,
            Mitchell,J.P., Al-Aswad,L.A., Park,S.C., Tello,C., Cotliar,J.,
            Bansal,R., Sidoti,P.A., Cioffi,G.A., Blumberg,D., Ritch,R.,
            Bell,N.P., Blieden,L.S., Davis,G., Medeiros,F.A., Das,S.K.,
            Divers,J., Langefeld,C.D., Palmer,N.D., Freedman,B.I., Bowden,D.W.,
            Ng,M.C.Y., Ida Chen,Y.D., Ayyagari,R., Rotter,J.I. and Weinreb,R.N.
  CONSRTM   African Descent and Glaucoma Evaluation Study III Genomics Study
            Group
  TITLE     Genetic Architecture of Primary Open-Angle Glaucoma in Individuals
            of African Descent: The African Descent and Glaucoma Evaluation
            Study III
  JOURNAL   Ophthalmology 126 (1), 38-48 (2019)
   PUBMED   30352225
  REMARK    GeneRIF: A novel association with advanced primary open-angle
            glaucoma (POAG) in the EN04 locus was identified putatively in
            persons of AD. In addition to this finding, this genome-wide
            association study in POAG patients of AD contributes to POAG
            genetics by identification of novel signals in prior loci (9p21)
REFERENCE   3  (bases 1 to 2878)
  AUTHORS   Nakamura,N., Dai,Q., Williams,J., Goulding,E.H., Willis,W.D.,
            Brown,P.R. and Eddy,E.M.
  TITLE     Disruption of a spermatogenic cell-specific mouse enolase 4 (eno4)
            gene causes sperm structural defects and male infertility
  JOURNAL   Biol Reprod 88 (4), 90 (2013)
   PUBMED   23446454
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC023283.10.
            
            On May 17, 2019 this sequence version replaced NM_001242699.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.201277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341276.11/ ENSP00000345555.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-233               AC023283.10        56366-56598
            234-362             AC023283.10        62490-62618
            363-553             AC023283.10        63359-63549
            554-702             AC023283.10        65857-66005
            703-872             AC023283.10        67661-67830
            873-1004            AC023283.10        67926-68057
            1005-1058           AC023283.10        69666-69719
            1059-1115           AC023283.10        75517-75573
            1116-1283           AC023283.10        77992-78159
            1284-1409           AC023283.10        80943-81068
            1410-1605           AC023283.10        82932-83127
            1606-1673           AC023283.10        86158-86225
            1674-1791           AC023283.10        86736-86853
            1792-2878           AC023283.10        88382-89468
FEATURES             Location/Qualifiers
     source          1..2878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..2878
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /note="enolase 4"
                     /db_xref="GeneID:387712"
                     /db_xref="HGNC:HGNC:31670"
                     /db_xref="MIM:131375"
     exon            1..233
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1946
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /EC_number="4.2.1.11"
                     /note="enolase-like protein ENO4; 2-phospho-D-glycerate
                     hydro-lyase; enolase family member 4"
                     /codon_start=1
                     /product="enolase 4"
                     /protein_id="NP_001229628.1"
                     /db_xref="CCDS:CCDS73206.1"
                     /db_xref="GeneID:387712"
                     /db_xref="HGNC:HGNC:31670"
                     /db_xref="MIM:131375"
                     /translation="MEEEGGGRSCGTTRELQKLKQQAMEYYRENDVPRRLEELLNSTF
                     YLQPADVYGHLANCFSKLAKPPTICKIVGKDVLDGLGLPTLQVDIFCTIQNFPKNVCS
                     VVISTHFEVHENALPELAKAEEAERASAVSTAVQWVNSTITHELQGMAPSDQAEVDHL
                     LRIFFASKVQEDKGRKELEKSLEYSTVPTPLPPVPPPPPPPPPTKKKGQKPGRKDTIT
                     EKPIAPAEPVEPVLSGSMAIGAVSLAVAKACAMLLNKPLYLNIALLKHNQEQPTTLSM
                     PLLMVSLVSCGKSSSGKLNLMKEVICIPHPELTTKQGVEMLMEMQKHINKIIEMPSPP
                     KAETKKGHDGSKRGQQQITGKMSHLGCLTINCDSIEQPLLLIQEICANLGLELGTNLH
                     LAINCAGHELMDYNKGKYEVIMGTYKNAAEMVDLYVDLINKYPSIIALIDPFRKEDSE
                     QWDSIYHALGSRCYIIAGTASKSISKLLEQGNISIPKSNGLIIKHTNQTTMSDLVEIT
                     NLIDSKKHITVFGSTEGESSDDSLVDLAVGLGVRFIKLGGLSRGERVTKYNRLLTIEE
                     ELVQNGTLGFKEEHTFFYFNEEAEKAAEALEAAAAREPLVPTFPTQGVEESAETGASS
                     G"
     exon            234..362
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            363..553
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            554..702
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            703..872
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1004
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1058
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1115
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1283
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1409
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1605
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..1673
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1791
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..2878
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2094..2099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /note="hexamer: ATTACA"
     polyA_site      2121
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /note="major polyA site"
     regulatory      2599..2604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
                     /note="hexamer: AATGAA"
     polyA_site      2622
                     /gene="ENO4"
                     /gene_synonym="C10orf134; ENOS"
ORIGIN      
        1 gcctagcgac agcagggacg ctcgtgggac cccaggctaa accccgctgt agccttaaat
       61 ctcctaccat ggaggaagaa ggcggcggcc gcagctgtgg gaccactagg gagctgcaga
      121 agctgaagca gcaggcgatg gagtactacc gggagaacga cgttccgcgc aggctggaag
      181 agctgctcaa ctccaccttc tacctccagc ctgccgacgt ctacgggcac ctggcaaact
      241 gcttttctaa acttgcaaag cctcccacca tatgcaaaat agtggggaaa gacgtactag
      301 atggactggg gcttccaacc ctgcaagtgg acatattctg caccattcaa aactttccca
      361 agaacgtatg ttctgtggtg atctcgactc attttgaagt ccatgagaat gctctgcccg
      421 agctggccaa ggcggaggag gcagagaggg ccagcgcggt gagcaccgcc gtgcagtggg
      481 tcaacagcac catcacgcac gagctccagg ggatggcacc ctctgaccag gcagaggtgg
      541 atcacctact caggatattc ttcgcaagta aagtacaaga agataagggg agaaaagaat
      601 tggaaaagag cctggaatac tcaacagtgc ctacacctct acctccagta ccaccaccac
      661 caccccctcc acctcctacc aaaaaaaagg ggcaaaagcc agggaggaag gatactatta
      721 cagagaaacc tattgcgcct gcagagcctg ttgagcctgt actcagtggc agtatggcca
      781 taggggccgt gtcactagct gttgccaaag cctgtgccat gctgcttaat aaacctctgt
      841 acttaaatat cgctctactg aagcacaatc aggaacagcc aacaacgcta tctatgcctt
      901 tgctgatggt atcgctggtc agctgtggga agtcatcatc tgggaagcta aatttaatga
      961 aagaagtgat ttgtataccc catcctgaat taacaaccaa acaaggtgtc gagatgctta
     1021 tggaaatgca gaaacatatc aacaaaataa ttgaaatgcc ctctcctcca aaagcagaga
     1081 caaaaaaagg gcacgatgga agcaaaagag gtcaacagca gatcactggc aagatgtctc
     1141 atcttggctg tttaaccatt aactgtgact ccatagaaca gccactgctt ctaatacagg
     1201 aaatctgtgc caacctgggg ctagaactgg gaacaaatct gcatctagct atcaactgtg
     1261 ctggacatga gctgatggac tacaataaag gaaagtatga agtgatcatg ggcacataca
     1321 aaaatgcagc ggagatggtt gacctgtatg tggatctgat caacaagtac ccttcaatta
     1381 ttgccttaat tgatcctttc aggaaggagg actctgaaca gtgggacagc atctatcacg
     1441 cacttggttc caggtgttac ataattgcag gaactgcttc caaaagcatt tctaaacttc
     1501 tagagcaagg aaacatcagc atccccaaat ccaatgggct gatcataaaa cacacaaacc
     1561 aaactacaat gtctgacttg gtggaaataa ccaatctgat tgacagtaag aagcacatca
     1621 ctgtctttgg aagtacagaa ggagaatcat ctgatgacag ccttgtcgat ttggctgttg
     1681 ggcttggtgt ccggttcatc aagttggggg gtctttcccg tggtgaacga gtgactaaat
     1741 acaaccgcct tctcactata gaggaagaac ttgtccagaa tggaacactg ggtttcaaag
     1801 aagaacacac ttttttttac tttaatgagg aagctgaaaa ggctgcggag gcacttgagg
     1861 ctgctgcggc tagggagccg ctggtgccca ccttccccac acaaggtgta gaggaatcag
     1921 ccgaaacagg agcatcctct ggatagggct gtacacaccc caggttccag ccacaccatc
     1981 agtattagta gaccgggagg tctgaagtac ggcgccgtgt ctccacatgg agtttcctct
     2041 tcaacttcac caactcttgt ggtttttatt cttctaattc cactgtttgg taaattacat
     2101 atatgatgtt tttgcctgaa attctgtgaa cttcgttttg cagccaccac acttccatgt
     2161 ggattttgtt tgtctattag ctctcctgtc catttttcag ggacacgctc cagtaaaaga
     2221 ggccaatatt tttgttgcca actccacact cagtcaaaca ccccatcctt taccaatcag
     2281 aatatctctg agaacaaaaa cctaatgacc ctagaagctc tctgtgctgg gaacagatgt
     2341 ccatcttctg tgtttattct acatgtctgt gctgaaaagc actgacacat ttttgtaacc
     2401 aacctcacgt agaagtgtga gagcatcacc attttttgta agagccaatt tcatctcact
     2461 ttcctaccct tgattccttt tttcctaatt ccctctcctt tttaaatttt agtttttctt
     2521 gtattatttt tatctttgcg agtcttctta gatccttttt ggagtaagaa tgagtataaa
     2581 tgaataagca catcagtaaa tgaattaata ttctcaaggt tattaaatgc ccagttattc
     2641 ataccacagc atttaaaaag caatccgcaa gtgataaaaa aaaaaaaaaa aaatgatgtg
     2701 acatatccat tgcctgaatt gctcttttgt aagccagtgt tgggattata gcagaggagt
     2761 agcagaaata aatatattca gacacaaaca tatagatata ataatatcca accactttat
     2821 atgatttagg gtctcgttaa aatggttacc atttgcttct cctaaaaatt atataaat
//
