LOCUS       NM_144648               3126 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens leucine rich repeats and guanylate kinase domain
            containing (LRGUK), transcript variant 3, mRNA.
ACCESSION   NM_144648
VERSION     NM_144648.3
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 3126)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3126)
  AUTHORS   Khan,N., Shah,P.P., Ban,D., Trigo-Mourino,P., Carneiro,M.G.,
            DeLeeuw,L., Dean,W.L., Trent,J.O., Beverly,L.J., Konrad,M., Lee,D.
            and Sabo,T.M.
  TITLE     Solution structure and functional investigation of human guanylate
            kinase reveals allosteric networking and a crucial role for the
            enzyme in cancer
  JOURNAL   J Biol Chem 294 (31), 11920-11933 (2019)
   PUBMED   31201273
  REMARK    GeneRIF: The structure revealed that hGMPK consists of three
            distinct regions designated as the LID, GMP-binding (GMP-BD), and
            CORE domains and is in an open configuration that is nucleotide
            binding-competent. Nonsynonymous single-nucleotide variants of the
            hGMPK CORE domain distant from the nucleotide-binding site of this
            domain modulate enzymatic activity without significantly affecting
            hGMPK's structure.
REFERENCE   3  (bases 1 to 3126)
  AUTHORS   Liu,Y., DeBoer,K., de Kretser,D.M., O'Donnell,L., O'Connor,A.E.,
            Merriner,D.J., Okuda,H., Whittle,B., Jans,D.A., Efthymiadis,A.,
            McLachlan,R.I., Ormandy,C.J., Goodnow,C.C., Jamsai,D. and
            O'Bryan,M.K.
  TITLE     LRGUK-1 is required for basal body and manchette function during
            spermatogenesis and male fertility
  JOURNAL   PLoS Genet 11 (3), e1005090 (2015)
   PUBMED   25781171
  REMARK    GeneRIF: Study demonstrates that leucine-rich repeats and guanylate
            kinase-domain containing isoform 1 (LRGUK-1) is required for
            multiple aspects of sperm assembly, including acrosome attachment,
            sperm head shaping and the initiation of the axoneme growth to form
            the core of the sperm tail.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3126)
  AUTHORS   Laramie,J.M., Wilk,J.B., Williamson,S.L., Nagle,M.W.,
            Latourelle,J.C., Tobin,J.E., Province,M.A., Borecki,I.B. and
            Myers,R.H.
  TITLE     Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are
            associated with Type 2 Diabetes and fasting glucose; the NHLBI
            Family Heart Study
  JOURNAL   BMC Med Genet 9, 46 (2008)
   PUBMED   18498660
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018646.3 and AC008154.6.
            
            On Jun 2, 2019 this sequence version replaced NM_144648.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.140858.1, AK057348.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285928.3/ ENSP00000285928.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-325               AC018646.3         1911-2235
            326-433             AC018646.3         11594-11701
            434-515             AC018646.3         14007-14088
            516-616             AC018646.3         17633-17733
            617-698             AC018646.3         22809-22890
            699-823             AC018646.3         32606-32730
            824-967             AC018646.3         37967-38110
            968-1048            AC018646.3         49126-49206
            1049-1135           AC018646.3         51547-51633
            1136-1242           AC018646.3         53073-53179
            1243-1362           AC018646.3         58304-58423
            1363-1459           AC018646.3         66225-66321
            1460-1573           AC018646.3         71562-71675
            1574-1775           AC018646.3         73790-73991
            1776-1871           AC018646.3         76051-76146
            1872-2011           AC008154.6         6291-6430
            2012-2100           AC008154.6         32068-32156
            2101-2226           AC008154.6         33463-33588
            2227-2375           AC008154.6         42769-42917
            2376-3126           AC008154.6         48357-49107
FEATURES             Location/Qualifiers
     source          1..3126
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     gene            1..3126
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /note="leucine rich repeats and guanylate kinase domain
                     containing"
                     /db_xref="GeneID:136332"
                     /db_xref="HGNC:HGNC:21964"
                     /db_xref="MIM:616478"
     exon            1..325
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..2506
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /note="isoform 3 is encoded by transcript variant 3;
                     leucine-rich repeat and guanylate kinase domain-containing
                     protein"
                     /codon_start=1
                     /product="leucine-rich repeat and guanylate kinase
                     domain-containing protein isoform 3"
                     /protein_id="NP_653249.1"
                     /db_xref="CCDS:CCDS5830.1"
                     /db_xref="GeneID:136332"
                     /db_xref="HGNC:HGNC:21964"
                     /db_xref="MIM:616478"
                     /translation="MATSERALLRTRAASLLRGLGRSRTGARSLQFRAEKERQPCWSF
                     PMGQKTKGSSNIASSYLLQQLMHRYQELDSDGDEDQGEGEAGSEESSESEMLNLEEEF
                     DGVLREEAVAKALHHLGRSGSGTEQVYLNLTLSGCNLIDVSILCGYVHLQKLDLSANK
                     IEDLSCVSCMPYLLELNASQNNLTTFFNFKPPKNLKKADFSHNQISEICDLSAYHALT
                     KLILDGNEIEEISGLEMCNNLIHLSLANNKITTINGLNKLPIKILCLSNNQIEMITGL
                     EDLKALQNLDLSHNQISSLQGLENHDLLEVINLEDNKIAELREIEYIKNLPILRVLNL
                     LENPIQEKSEYWFFVIFMLLRLTELDQKKIKVEEKVSAVNKYDPPPEVVAAQDHLTHV
                     VNSVMQPQRIFDSTLPSLDAPYPMLILAGPEACGKRELAHRLCRQFSTYFRYGACHTT
                     RPPYFGEGDRVDYHFISQDVFDEMVNMGKFILTFSYGNHKYGLNRDTVEGIARDGLAS
                     CIHMEIEGVRSLKYSYFEPRYILVVPMNKEKYEGYLRRKGLFSRAEIEFAVSRVDLYI
                     KINQNFPGYFDEVINADDLDVAYQKLSQLIREYLGLTEEPAKSLATTADVKTSHLKPE
                     AHPTKYISSNMGDFLHSTDRNYLIKFWAKLSAKKTPAERDSIHRQHEAARQALMGRIR
                     PDHTLLFQRGPVPAPLTSGLHYYTTLEELWKSFDLCEDYFKPPFGPYPEKSGKDSLVS
                     MKCSLFRFCPWSKELPFQPPEGSISSHLGSGASDSETEETRKALPIQSFSHEKESHQH
                     RQHSVPVISRPGSNVKPTLPPIPQGRR"
     exon            326..433
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            434..515
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            516..616
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            617..698
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            699..823
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            824..967
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1048
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1135
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1242
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1362
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1459
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1573
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1775
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1871
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..2011
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            2012..2100
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            2101..2226
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            2227..2375
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     exon            2376..3126
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2695..2700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /note="hexamer: ATTAAA"
     polyA_site      2715
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /note="major polyA site"
     regulatory      3100..3105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
                     /note="hexamer: AATAAA"
     polyA_site      3126
                     /gene="LRGUK"
                     /gene_synonym="CFAP246"
ORIGIN      
        1 agtctcctag gcaaccccgc taaacaagat ggcgacctcc gagagggctc tcctgaggac
       61 cagagctgcc tctctcctga gaggcttggg cagatcccga actggagccc gatcgttaca
      121 gtttcgcgca gaaaaagagc gtcagccttg ctggtctttt cccatggggc agaagacgaa
      181 aggcagctct aacatagcct cctcctacct gctccagcag ctcatgcacc gctatcagga
      241 gctggactcg gacggagatg aggaccaggg cgagggcgag gcgggatccg aggagtcctc
      301 agagtccgaa atgctgaatt tggaggagga atttgatggg gtcctgagag aggaggctgt
      361 ggccaaagca ctccatcact tggggcgctc aggctctggg actgagcaag tctacctcaa
      421 tctaacttta tcaggttgta atttaattga tgttagcatt ctctgtggat atgttcatct
      481 acagaagttg gatctttcag cgaataaaat tgaagattta tcttgtgtga gttgtatgcc
      541 ttatctccta gaacttaatg cttctcaaaa taatttgact acgttcttca atttcaagcc
      601 acccaaaaac ctcaagaagg cggatttttc ccacaaccaa atttctgaaa tttgtgattt
      661 gtcagcgtat catgctctca ctaaactaat tttggatggc aatgagatag aagaaatcag
      721 tggactagag atgtgcaaca acctaattca ccttagtttg gccaacaata agatcacgac
      781 aattaatggc ttaaacaagt taccaatcaa aatactttgt ctgagcaata accagattga
      841 gatgatcaca ggtttggagg atctgaaagc cctgcagaac ctggatctgt cccacaatca
      901 gataagcagc ctccaaggct tagagaatca tgacctcctg gaagtgatca acctggagga
      961 taataagatt gctgagctga gagaaataga atacattaaa aatttaccca tccttcgagt
     1021 tctcaatctt ctagaaaatc caattcagga aaagtctgaa tattggttct tcgtaatttt
     1081 tatgcttctg cgattaacag aattagatca gaagaagatt aaagtggaag aaaaggtttc
     1141 agcagtgaat aaatatgatc ctccccctga agtggttgca gctcaagacc acctgaccca
     1201 tgttgtcaac agcgtgatgc agccgcagag gatctttgac agcactcttc ccagcctgga
     1261 tgccccttat cccatgctga tactagctgg tcctgaagct tgtgggaaac gagagcttgc
     1321 ccatcgcctc tgcagacagt ttagcactta cttcagatat ggggcctgtc ataccacaag
     1381 accaccttac tttggagaag gggatcgagt tgattatcat tttatctctc aagacgtttt
     1441 tgatgaaatg gtgaacatgg ggaaattcat tctaacattt agttatggta atcacaagta
     1501 tggattaaat agggacaccg tagaaggtat cgcaagagat ggtttggcaa gctgtattca
     1561 tatggaaata gaaggtgtaa gaagtttgaa atattcctat tttgagcctc gttatatcct
     1621 ggtggtgccc atgaacaagg aaaaatatga gggatatttg cggagaaaag gattattcag
     1681 tcgtgcagaa attgaatttg ctgtctccag agtggacctt tatattaaaa ttaatcagaa
     1741 ttttccggga tattttgatg aggtaatcaa tgcagatgat ctggatgttg cctaccaaaa
     1801 actgagtcag ctcattagag aataccttgg attgactgag gaacctgcca agagtttggc
     1861 tacaactgca gatgttaaga catcccacct gaaacctgaa gcgcatccta caaagtatat
     1921 ttcttcgaat atgggtgatt tcctgcattc tacagacaga aactacctca ttaaattttg
     1981 ggccaaactt tcagccaaaa aaacaccagc ggaaagagat tctatacaca gacagcacga
     2041 ggcagcccgg caagctctaa tgggaaggat acgccctgat cacacactcc tatttcaaag
     2101 gggtccagta ccagcacctc tcaccagtgg tctacactat tatacaactt tagaagaact
     2161 ctggaaaagt tttgatcttt gtgaagacta ttttaaacct ccatttggac catatcctga
     2221 aaagagtggg aaggattcct tggtttccat gaaatgttca ttgtttcggt tctgtccgtg
     2281 gtcaaaagaa ttgcctttcc agcctccgga ggggagcatt tcttcacacc taggatcagg
     2341 agccagtgac agtgagaccg aagagacccg gaaagcacta cctatacaat cattttcaca
     2401 tgaaaaagag tctcaccaac acagacaaca ctcggtccca gtcatcagtc gcccaggttc
     2461 caacgtcaaa cccaccctcc ctccaatccc tcagggccgc aggtagacta gcacttgatg
     2521 tctgatccta acatggaaaa cctgctctgc tgatgtcgaa ttccttgcct tacctggcca
     2581 tgggtccagc tgtttctcac tcaacccatt acccacggaa gaatgttcta cctgccttaa
     2641 ttctatcagc cagtttctct tgtgattctt tggctggtgt cttttagttt tttaattaaa
     2701 aaattgtttc ttaaatgatt tttaaagatg tgagtttttt taatgtgagt tattcttagc
     2761 ttttaaaaat gtcatttcat ttttttttct atagctataa ataatttttt ccacctgctc
     2821 cctgctcgga aatatcagat ggaaaaatct cccaagatct ctgcaccgtg atatgcagag
     2881 tggctttctg atatatccaa ctgggattgt gctcttaaaa tttcaatatg tccatttaca
     2941 acattcctgt atgctctaga ggattgattt attttgctct gattatgaaa ggattgcaga
     3001 gttccattta acttgtcgcc aacatgatat cgactgcatc tctcaaaagg aattaatgta
     3061 attttggggg gttcttgact tactttagca acacgaaaga ataaagagca acagttgatt
     3121 ctttta
//
