LOCUS       NM_020751               3574 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens component of oligomeric golgi complex 6 (COG6),
            transcript variant 1, mRNA.
ACCESSION   NM_020751
VERSION     NM_020751.3
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 3574)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 3574)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3574)
  AUTHORS   Lugli,L., Bariola,M.C., Ferri,L., Lucaccioni,L., Bertucci,E.,
            Cattini,U., Torcetta,F., Morrone,A., Iughetti,L. and Berardi,A.
  TITLE     Disorder of sex development associated with a novel homozygous
            nonsense mutation in COG6 expands the phenotypic spectrum of
            COG6-CDG
  JOURNAL   Am J Med Genet A 185 (4), 1187-1194 (2021)
   PUBMED   33394555
  REMARK    GeneRIF: Disorder of sex development associated with a novel
            homozygous nonsense mutation in COG6 expands the phenotypic
            spectrum of COG6-CDG.
REFERENCE   4  (bases 1 to 3574)
  AUTHORS   Mandel,H., Cohen Kfir,N., Fedida,A., Shuster Biton,E., Odeh,M.,
            Kalfon,L., Ben-Harouch,S., Fleischer Sheffer,V., Hoffman,Y.,
            Goldberg,Y., Dinwiddie,A., Dumin,E., Eran,A., Apel-Sarid,L.,
            Tiosano,D. and Falik-Zaccai,T.C.
  TITLE     COG6-CDG: Expanding the phenotype with emphasis on glycosylation
            defects involved in the causation of male disorders of sex
            development
  JOURNAL   Clin Genet 98 (4), 402-407 (2020)
   PUBMED   32683677
  REMARK    GeneRIF: COG6-CDG: Expanding the phenotype with emphasis on
            glycosylation defects involved in the causation of male disorders
            of sex development.
REFERENCE   5  (bases 1 to 3574)
  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   6  (bases 1 to 3574)
  AUTHORS   Loh,E. and Hong,W.
  TITLE     The binary interacting network of the conserved oligomeric Golgi
            tethering complex
  JOURNAL   J Biol Chem 279 (23), 24640-24648 (2004)
   PUBMED   15047703
REFERENCE   7  (bases 1 to 3574)
  AUTHORS   Loh,E. and Hong,W.
  TITLE     Sec34 is implicated in traffic from the endoplasmic reticulum to
            the Golgi and exists in a complex with GTC-90 and ldlBp
  JOURNAL   J Biol Chem 277 (24), 21955-21961 (2002)
   PUBMED   11929878
REFERENCE   8  (bases 1 to 3574)
  AUTHORS   Ungar,D., Oka,T., Brittle,E.E., Vasile,E., Lupashin,V.V.,
            Chatterton,J.E., Heuser,J.E., Krieger,M. and Waters,M.G.
  TITLE     Characterization of a mammalian Golgi-localized protein complex,
            COG, that is required for normal Golgi morphology and function
  JOURNAL   J Cell Biol 157 (3), 405-415 (2002)
   PUBMED   11980916
REFERENCE   9  (bases 1 to 3574)
  AUTHORS   Whyte,J.R. and Munro,S.
  TITLE     The Sec34/35 Golgi transport complex is related to the exocyst,
            defining a family of complexes involved in multiple steps of
            membrane traffic
  JOURNAL   Dev Cell 1 (4), 527-537 (2001)
   PUBMED   11703943
REFERENCE   10 (bases 1 to 3574)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC317375.1, BC051723.1,
            AL512505.8 and BU675177.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_020751.2.
            
            Summary: This gene encodes a subunit of the conserved oligomeric
            Golgi complex that is required for maintaining normal structure and
            activity of the Golgi apparatus. The encoded protein is organized
            with conserved oligomeric Golgi complex components 5, 7 and 8 into
            a sub-complex referred to as lobe B. Alternative splicing results
            in multiple transcript variants.[provided by RefSeq, Feb 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.58054.1,
                                           SRR1803612.178707.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000455146.8/ ENSP00000397441.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DC317375.1         36-50
            16-802              BC051723.1         1-787
            803-803             AL512505.8         30323-30323
            804-2234            BC051723.1         789-2219
            2235-3103           AL512505.8         99398-100266
            3104-3574           BU675177.1         19-489              c
FEATURES             Location/Qualifiers
     source          1..3574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3574
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /note="component of oligomeric golgi complex 6"
                     /db_xref="GeneID:57511"
                     /db_xref="HGNC:HGNC:18621"
                     /db_xref="MIM:606977"
     exon            1..218
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..2039
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     complexed with Dor1p 2; conserved oligomeric Golgi complex
                     protein 6; COG complex subunit 6; testicular tissue
                     protein Li 41"
                     /codon_start=1
                     /product="conserved oligomeric Golgi complex subunit 6
                     isoform 1"
                     /protein_id="NP_065802.1"
                     /db_xref="CCDS:CCDS9370.1"
                     /db_xref="GeneID:57511"
                     /db_xref="HGNC:HGNC:18621"
                     /db_xref="MIM:606977"
                     /translation="MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILE
                     TRLDNDKEMLEALKALSTFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELE
                     SISEDVQAMSNCCQDMTSRLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKF
                     QLTSDEMSLLRGTREGPITEDFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALL
                     QETAYERLYRWAQSECRTLTQESCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRST
                     VVRGFIDALTRGGPGGTPRPIEMHSHDPLRYVGDMLAWLHQATASEKEHLEALLKHVT
                     TQGVEENIQEVVGHITEGVCRPLKVRIEQVIVAEPGAVLLYKISNLLKFYHHTISGIV
                     GNSATALLTTIEEMHLLSKKIFFNSLSLHASKLMDKVELPPPDLGPSSALNQTLMLLR
                     EVLASHDSSVVPLDARQADFVQVLSCVLDPLLQMCTVSASNLGTADMATFMVNSLYMM
                     KTTLALFEFTDRRLEMLQFQIEAHLDTLINEQASYVLTRVGLSYIYNTVQQHKPEQGS
                     LANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQLNFLLSATVKEQIVKQSTELVCRAY
                     GEVYAAVMNPINEYKDPENILHRSPQQVQTLLS"
     exon            219..362
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            363..434
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            435..493
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            494..605
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            606..688
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            689..759
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            760..853
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            854..982
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1074
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1139
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1231
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1349
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1481
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1649
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1757
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..1811
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1891
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     exon            1892..3574
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3431..3436
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /note="hexamer: TATAAA"
     polyA_site      3449
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /note="major polyA site"
     regulatory      3556..3561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
                     /note="hexamer: AATAAA"
     polyA_site      3574
                     /gene="COG6"
                     /gene_synonym="CDG2L; COD2; SHNS"
ORIGIN      
        1 actcgcgctg cctccgtggt ccctgcctgg ctgaggtggc agcagggggc gggacgcgca
       61 gcgctatggc agagggcagc ggggaagtgg tcgcagtgtc tgcgaccggg gctgccaacg
      121 gcctcaacaa tggggcaggc gggacctcgg cgacgacctg caacccgctg tcgcgcaagc
      181 tgcataagat cctggagacg cggctggaca acgacaagga gatgttagaa gctctcaagg
      241 cactttcaac cttttttgtt gaaaatagtc tgcggactcg aagaaattta cgtggagata
      301 ttgaacgtaa aagtttagcc atcaatgaag aatttgtaag cattttcaag gaagtgaagg
      361 aggaacttga aagcataagc gaagatgttc aagcaatgag caactgttgt caagatatga
      421 caagtcgcct acaggcagca aaggaacaga ctcaagattt aatagtaaaa accactaagc
      481 ttcaatctga aagccaaaaa ttagagataa gagctcaagt tgcagatgcc ttcttatcca
      541 agttccaact gacttctgat gaaatgagtc ttctccgagg tacaagagaa ggacccatta
      601 ctgaggattt tttcaaggca ctgggaagag taaaacagat tcataatgat gtcaaagttc
      661 tcttgcgtac aaatcaacaa acggcaggtt tagaaattat ggaacagatg gccttacttc
      721 aagaaacggc ttatgaaaga ctttaccgat gggctcaaag tgaatgcaga acattgacac
      781 aagaatcatg tgacgtatct ccagtattga cacaggcaat ggaagccctg caggacagac
      841 ctgtcttata taaatatacc ttagatgaat ttggaacagc cagaagaagt acagttgttc
      901 gtggatttat tgatgcgctc acaagagggg gccccggagg tacacctaga ccaattgaaa
      961 tgcattctca tgaccctttg aggtatgtag gagatatgtt ggcttggctc catcaagcta
     1021 ctgcttctga aaaggaacac cttgaagctc tcttaaagca tgtaactaca caaggtgttg
     1081 aagaaaatat tcaagaagtt gttgggcata tcactgaagg tgtgtgcagg cctctaaagg
     1141 ttcgaattga gcaagtaata gttgctgaac ctggggcagt tttattatat aaaatttcta
     1201 atctcctcaa attttatcac catacaatca gtggtattgt tggaaatagt gcaactgcat
     1261 tattgactac cattgaagaa atgcatttgc taagcaaaaa aatattcttc aatagcttga
     1321 gtcttcatgc aagtaaatta atggacaagg ttgaactccc accacctgat cttggaccaa
     1381 gttctgcact aaatcagaca ctcatgttgc tgcgtgaagt tttagcatct cacgattctt
     1441 cagttgtacc attagatgct cgtcaagctg attttgtgca ggttttatca tgtgtcttgg
     1501 atcctctcct acagatgtgt actgtatcag ccagcaattt aggcacagct gacatggcca
     1561 ctttcatggt caattcacta tatatgatga agacaacatt agctctattt gaattcactg
     1621 acagacgtct ggaaatgcta cagtttcaga tcgaagcaca tttggacaca cttataaatg
     1681 agcaagcctc ttatgtttta actagggtag gcttgagtta catctataac actgtacagc
     1741 aacataaacc tgaacagggc tctttagcta atatgcccaa cctagattct gtgacactga
     1801 aggctgcaat ggttcagttt gatcgttatc tgtcagcccc agacaaccta ttgataccac
     1861 agctgaactt tcttctaagt gccacagtga aagagcagat cgtaaaacaa tctacagaat
     1921 tagtctgcag agcctatggt gaagtgtatg cagccgtgat gaatccaatc aatgaataca
     1981 aagatccaga gaacattctt caccgatcgc cgcagcaagt gcagacgctt ctttcctgat
     2041 tatcttattt cattgtgtta gcaaaatatg acctccctaa aacactgaag gttatttttt
     2101 attctttgaa tttttactct ataatttgat agttacagtt ttctttgtat cataagattg
     2161 taagtcccga taattttttt ttttttggtc tcagtaacag ggaagtaagt aacatgttga
     2221 cctgagctag tattgctgtg tatctactct aaatgagatg atctattttt ttgctagcca
     2281 tctctccagc tctgcagttt tcactgtatt caggaagcat aaagtagtat gaaaggtttg
     2341 aagaattttt ttttacaaga ctagttctaa attaacagct tataaaaaat ttgtctaaat
     2401 ttaataatta gtataaggat atgacctaat aaatgtctcc ttacctaaag attcatttgc
     2461 tttcttttaa tatgagtagg catacttagt agcttttctg aacctagcct atgtctctgt
     2521 ccccaaaata gctgccctta aagagttgtt agcagagaga aaaataacag tgaatgtgct
     2581 cctggtgtat atggcagtga atctcctttc tgttctactt tagcatacta tatatatttg
     2641 actgtgtaca ttcttatgca attttaagta tacactcagc aataattaga aaaaaaggag
     2701 agagaaaagt gatttaaaca gggtggattc cactctgtgg gagccttcga tggaactcaa
     2761 ggtggagctc agcctttcca atgagctcta agcatgtaga tagcctgagc tgtgtctaag
     2821 cctggtgttt aaagatgggt atttgtcata caatatgggt cctaaatcca accaactaca
     2881 cattttatct ggtgttcaaa ccaaagaaac aatgatctac tcaaacattg gagaaaaaaa
     2941 ctgccagagg aggagttgcc aattggcagt gtgtcttatc tccatgttgt aactggactc
     3001 tgactttaga ccattaccta ttaggaagat taaaaatgac tgtattttta aaggaataaa
     3061 tcccagtgtg cctgatttga cattcttgtc agcaaaaaaa aacttaattt ctagtaaatc
     3121 tataaaaatg ggtaagtccc taaattacaa atgagaaaat tgaagcacaa ggaaaaaaat
     3181 aactagtttg aaatattttg aaaagtaata acataaaact agtatttgta gaagattatg
     3241 tgttgtatat aacaaattag tatttataga atatgaccta tttatctgaa gtttataatt
     3301 gtttatacct aatacagttc tttttggagt aagaatgatt atataatcgt tatccatttg
     3361 ggtataaatc tgtattttta gttttttccc tttgattagt atgtgttaca tataaagaca
     3421 gaaaataaag tataaatcaa gagcttaaat tgtatataat ttatttctac agagaaagaa
     3481 gattgatacc ttgctatgag tgaattcctt tgttttatag ggaaaattta ttgtgctttt
     3541 tacctggttt tttcaaataa aatattaaaa tatt
//
