LOCUS       NM_001077594            2637 bp    mRNA    linear   PRI 30-JAN-2025
DEFINITION  Homo sapiens exocyst complex component 3 like 4 (EXOC3L4),
            transcript variant 1, mRNA.
ACCESSION   NM_001077594 XM_011537327 XM_040910 XM_941093
VERSION     NM_001077594.2
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 2637)
  AUTHORS   Miller,J.E., Shivakumar,M.K., Lee,Y., Han,S., Horgousluoglu,E.,
            Risacher,S.L., Saykin,A.J., Nho,K. and Kim,D.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Rare variants in the splicing regulatory elements of EXOC3L4 are
            associated with brain glucose metabolism in Alzheimer's disease
  JOURNAL   BMC Med Genomics 11 (Suppl 3), 76 (2018)
   PUBMED   30255815
  REMARK    GeneRIF: Rare variants in the splicing regulatory elements of
            EXOC3L4 are associated with Alzheimer's disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2637)
  AUTHORS   Middelberg,R.P., Benyamin,B., de Moor,M.H., Warrington,N.M.,
            Gordon,S., Henders,A.K., Medland,S.E., Nyholt,D.R., de Geus,E.J.,
            Hottenga,J.J., Willemsen,G., Beilin,L.J., Mori,T.A., Wright,M.J.,
            Heath,A.C., Madden,P.A., Boomsma,D.I., Pennell,C.E.,
            Montgomery,G.W., Martin,N.G. and Whitfield,J.B.
  TITLE     Loci affecting gamma-glutamyl transferase in adults and adolescents
            show age x SNP interaction and cardiometabolic disease associations
  JOURNAL   Hum Mol Genet 21 (2), 446-455 (2012)
   PUBMED   22010049
REFERENCE   3  (bases 1 to 2637)
  AUTHORS   Gieger,C., Radhakrishnan,A., Cvejic,A., Tang,W., Porcu,E.,
            Pistis,G., Serbanovic-Canic,J., Elling,U., Goodall,A.H.,
            Labrune,Y., Lopez,L.M., Magi,R., Meacham,S., Okada,Y., Pirastu,N.,
            Sorice,R., Teumer,A., Voss,K., Zhang,W., Ramirez-Solis,R.,
            Bis,J.C., Ellinghaus,D., Gogele,M., Hottenga,J.J., Langenberg,C.,
            Kovacs,P., O'Reilly,P.F., Shin,S.Y., Esko,T., Hartiala,J.,
            Kanoni,S., Murgia,F., Parsa,A., Stephens,J., van der Harst,P.,
            Ellen van der Schoot,C., Allayee,H., Attwood,A., Balkau,B.,
            Bastardot,F., Basu,S., Baumeister,S.E., Biino,G., Bomba,L.,
            Bonnefond,A., Cambien,F., Chambers,J.C., Cucca,F., D'Adamo,P.,
            Davies,G., de Boer,R.A., de Geus,E.J., Doring,A., Elliott,P.,
            Erdmann,J., Evans,D.M., Falchi,M., Feng,W., Folsom,A.R.,
            Frazer,I.H., Gibson,Q.D., Glazer,N.L., Hammond,C.,
            Hartikainen,A.L., Heckbert,S.R., Hengstenberg,C., Hersch,M.,
            Illig,T., Loos,R.J., Jolley,J., Khaw,K.T., Kuhnel,B.,
            Kyrtsonis,M.C., Lagou,V., Lloyd-Jones,H., Lumley,T., Mangino,M.,
            Maschio,A., Mateo Leach,I., McKnight,B., Memari,Y., Mitchell,B.D.,
            Montgomery,G.W., Nakamura,Y., Nauck,M., Navis,G., Nothlings,U.,
            Nolte,I.M., Porteous,D.J., Pouta,A., Pramstaller,P.P., Pullat,J.,
            Ring,S.M., Rotter,J.I., Ruggiero,D., Ruokonen,A., Sala,C.,
            Samani,N.J., Sambrook,J., Schlessinger,D., Schreiber,S.,
            Schunkert,H., Scott,J., Smith,N.L., Snieder,H., Starr,J.M.,
            Stumvoll,M., Takahashi,A., Tang,W.H., Taylor,K., Tenesa,A., Lay
            Thein,S., Tonjes,A., Uda,M., Ulivi,S., van Veldhuisen,D.J.,
            Visscher,P.M., Volker,U., Wichmann,H.E., Wiggins,K.L.,
            Willemsen,G., Yang,T.P., Hua Zhao,J., Zitting,P., Bradley,J.R.,
            Dedoussis,G.V., Gasparini,P., Hazen,S.L., Metspalu,A., Pirastu,M.,
            Shuldiner,A.R., Joost van Pelt,L., Zwaginga,J.J., Boomsma,D.I.,
            Deary,I.J., Franke,A., Froguel,P., Ganesh,S.K., Jarvelin,M.R.,
            Martin,N.G., Meisinger,C., Psaty,B.M., Spector,T.D., Wareham,N.J.,
            Akkerman,J.W., Ciullo,M., Deloukas,P., Greinacher,A., Jupe,S.,
            Kamatani,N., Khadake,J., Kooner,J.S., Penninger,J., Prokopenko,I.,
            Stemple,D., Toniolo,D., Wernisch,L., Sanna,S., Hicks,A.A.,
            Rendon,A., Ferreira,M.A., Ouwehand,W.H. and Soranzo,N.
  TITLE     New gene functions in megakaryopoiesis and platelet formation
  JOURNAL   Nature 480 (7376), 201-208 (2011)
   PUBMED   22139419
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2637)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161669.5.
            
            On or before Apr 8, 2021 this sequence version replaced
            XM_011537327.2, NM_001077594.1.
            
            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 transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3815893.1,
                                           SRR14038197.1917370.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000688303.1/ ENSP00000509130.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AL161669.5         145579-145694       c
            117-526             AL161669.5         139806-140215       c
            527-1181            AL161669.5         137647-138301       c
            1182-1293           AL161669.5         136367-136478       c
            1294-1416           AL161669.5         136030-136152       c
            1417-1517           AL161669.5         135581-135681       c
            1518-1598           AL161669.5         135347-135427       c
            1599-1713           AL161669.5         133520-133634       c
            1714-1833           AL161669.5         132876-132995       c
            1834-1986           AL161669.5         132636-132788       c
            1987-2108           AL161669.5         131902-132023       c
            2109-2637           AL161669.5         129860-130388       c
FEATURES             Location/Qualifiers
     source          1..2637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.32"
     gene            1..2637
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="exocyst complex component 3 like 4"
                     /db_xref="GeneID:91828"
                     /db_xref="HGNC:HGNC:20120"
                     /db_xref="MIM:621085"
     exon            1..116
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            117..526
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..2301
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="SEC6-like protein C14orf73"
                     /codon_start=1
                     /product="exocyst complex component 3-like protein 4"
                     /protein_id="NP_001071062.1"
                     /db_xref="CCDS:CCDS32163.1"
                     /db_xref="GeneID:91828"
                     /db_xref="HGNC:HGNC:20120"
                     /db_xref="MIM:621085"
                     /translation="MPSPQTDTPGPELQSPKEAEEPQTPAQGSRRTSSRKEPNAHRKD
                     GTRLGLGSLRQAFSRASQRALTQVSKEDTGLFRRSSCSLFRSFRQALNDGPATGHSQA
                     TPEVPSGVMNGVSQQASTGAASEELKPEAEGKSVADLITERQLLAAFEQLLRLETLLV
                     AEKASRTFEQDPTAFARRAMDVCLLYDGLAAEIGAIVRETLDSDGVDAAALAELARVV
                     SAEEEAHPSPPDDGDFLRTPRRWRQHWEEAVRRSAQERVRRPGAGWAFGEAEGASGLA
                     QLLAELGGLVRRDLQKVRQEVQPAYAAAGFPAWEVYLRAFHSAVAQRLQELARDARGC
                     EQLYILLDWAANVYGSPDFLGAPGLALPAEPLPPLLAPDVWARLESDYTSFLEAKIAS
                     CFDSILQLEQSHWAAAEVPEVLQGLYQAPLSMDVHMLVAEHVKAAGAISAELEATTLR
                     ICTRALGLFVPRFEKAFLASEAVSEPHLGAYINACEELRTSLLSRFPGTQEELEKPLV
                     TATCSFQKHLLQGLQRELQPLFRVVCTRDWLTQDWLHPLMDKVVTFAGHLQRVARPRA
                     QETLQEVHRFVVREYLARALRPRERFRGMERMHGSQKMSLDAQAISDTFQGLGSEATW
                     LDQAIQCVAEILGETYKDDIQRHLETLIRSYPDIRRDHILAILALRRLGRQRNQHLLQ
                     HTQDLLRAAAGAAGAEAPRGRVLFEEIKVPSAMAVLITCV"
     exon            527..1181
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1293
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1416
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1517
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1598
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1713
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1833
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1834..1986
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            1987..2108
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2637
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2620..2625
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="hexamer: AATAAA"
     polyA_site      2637
                     /gene="EXOC3L4"
                     /gene_synonym="C14orf73"
                     /note="major polyA site"
ORIGIN      
        1 gtcactcgct caggctgctc tagaggcccc atagccaggg cccggctctg agggccccac
       61 gggccagctt ctcagggggc tgtgttcttc ctgggccaag gctgcgtgct cagcagctct
      121 cctgctgcca agatgccatc accacagaca gacactcctg ggccggagct gcagagtccc
      181 aaggaggctg aggagccaca gactccagct cagggctccc ggcgaacaag cagcaggaaa
      241 gagcccaatg cccaccgcaa ggatggcaca aggctgggcc tgggctccct gaggcaggcc
      301 ttctcccggg ccagccagcg ggctttgacc caggtctcca aggaagatac gggcctgttc
      361 cggcgaagct cctgctccct gttccggtcc ttccggcaag ccctgaatga cggcccagct
      421 accggccatt cccaggccac tcctgaggtg ccctcggggg tcatgaatgg tgtcagccag
      481 caggcatcca ctggggcagc gtctgaggaa ctgaaacccg aggcagaagg caaatccgtg
      541 gccgacctca ttactgaacg gcaactgctg gcggccttcg aacagcttct gcgcctggag
      601 acgctgctgg tggccgagaa ggcctcgcgc acctttgagc aggaccctac ggccttcgcg
      661 cggcgcgcta tggacgtgtg cctgctttac gacgggctgg cagccgagat cggcgccatc
      721 gtgcgcgaga cgctggacag cgacggtgtg gacgcggccg cgctggccga gctggcccgc
      781 gtggtgagcg cggaggagga agcccaccct tctccccccg acgacggcga cttcctgcgc
      841 acgccgcgcc gctggcgcca gcactgggag gaggcggtgc ggcgaagcgc tcaggagcgc
      901 gtgcggcggc cgggcgcggg gtgggccttc ggggaggcgg agggcgcgtc gggtttggcc
      961 cagcttctgg ccgagctggg tggcttggtt cgccgcgacc tgcagaaggt gcggcaggag
     1021 gtgcagcccg cgtatgcggc ggccggcttc ccagcgtggg aggtctatct gcgtgccttc
     1081 cacagcgccg tggcccagcg cctccaggag ctcgcgcgcg acgcccgcgg ctgcgagcag
     1141 ctctatatcc tgctggactg ggccgccaac gtctacggca gtcctgactt cctgggcgcc
     1201 ccggggctgg cgctgcccgc cgagccgctg cctccgctcc tggcgccgga cgtgtgggcc
     1261 cgactggaga gcgactacac cagcttcctg gaggccaaga tcgcaagctg cttcgacagc
     1321 atcttgcagc tggagcagag tcactgggcg gccgccgagg tccccgaggt gctgcagggc
     1381 ctctaccagg cgccgctgtc catggacgtc catatgctcg tggccgagca cgtgaaggcg
     1441 gccggcgcca tctccgcgga gctggaggcc accaccctgc gaatctgcac gcgggcgctc
     1501 ggcctcttcg tgcccaggtt tgaaaaggct tttctggcgt cggaggcggt gagcgagccg
     1561 cacctgggcg cctacatcaa cgcctgcgag gagctcagga ccagtcttct ctccaggttc
     1621 ccaggaaccc aagaggagct ggagaagccc ctggtgacgg ccacctgcag cttccagaag
     1681 cacttgcttc agggcttgca gcgtgagttg cagccgctct tcagggttgt gtgcaccagg
     1741 gactggctga cgcaggactg gctgcatccc ctcatggaca aggtggtgac cttcgccggt
     1801 catctccagc gtgtggcccg gccgcgggca caggagactc tgcaggaggt gcaccggttc
     1861 gtggtccgcg agtacctggc gcgggcgctg aggccacggg agcggttccg gggcatggag
     1921 cgcatgcatg gctcccagaa gatgagcctg gatgcccagg ccatcagcga caccttccag
     1981 ggcctgggtt ccgaggccac atggttggac caagccatcc agtgcgtggc tgagatcctg
     2041 ggcgagacct acaaagatga catccagcgg cacctggaga ctcttatccg gagctacccc
     2101 gacatcaggc gggaccacat actggccatt ctggcgctgc gccgactggg ccgccagcgg
     2161 aaccagcatc tcttgcagca cactcaagac ctgctgagag ctgcggccgg ggcggcgggt
     2221 gcggaggccc ctcggggccg cgtgctcttc gaggagatca aggtgcccag tgccatggct
     2281 gtgctgatca cctgcgtcta gttctctctg gctcgagggg gggccggccg ctggcaggga
     2341 gctgtggtca gtgggggtca gccaggagcc cagggagtca ctctgggccc tgcccccaac
     2401 tctgacactg cagttaggga atttttgtcg tcagcagcca agcgcagctg tcaggccaga
     2461 aggagcagcc gtgcaggagg catttcaggc atcgttgagg ggagtgtttt ggggccgcag
     2521 agctctcaat gctgcctatc gggcgggggg gggcctcccg cccgactgtc cagcttcacc
     2581 ctccagtctg aaagtgaaga gcagagtatt tatttaaaaa ataaatgtga attaaaa
//
