LOCUS       NM_032382               4629 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens component of oligomeric golgi complex 8 (COG8),
            transcript variant 1, mRNA.
ACCESSION   NM_032382
VERSION     NM_032382.5
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 4629)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 4629)
  AUTHORS   Climer,L.K., Pokrovskaya,I.D., Blackburn,J.B. and Lupashin,V.V.
  TITLE     Membrane detachment is not essential for COG complex function
  JOURNAL   Mol Biol Cell 29 (8), 964-974 (2018)
   PUBMED   29467253
  REMARK    GeneRIF: TMEM-COG4, COG7 and COG8 subunits restore endogenous COG
            localization to the Golgi membranes
REFERENCE   3  (bases 1 to 4629)
  AUTHORS   Yang,A., Cho,S.Y., Jang,J.H., Kim,J., Kim,S.Z., Lee,B.H., Yoo,H.W.
            and Jin,D.K.
  TITLE     Further delineation of COG8-CDG: A case with novel compound
            heterozygous mutations diagnosed by targeted exome sequencing
  JOURNAL   Clin Chim Acta 471, 191-195 (2017)
   PUBMED   28619360
  REMARK    GeneRIF: The exome sequencing was performed to screen all CDG type
            II-related genes, and two novel frameshift mutations were found:
            c.171dupG (p.Leu58Alafs*29) and c.1656dupC (p.Ala553Argfs*15) in
            COG8.
REFERENCE   4  (bases 1 to 4629)
  AUTHORS   Bailey Blackburn,J., Pokrovskaya,I., Fisher,P., Ungar,D. and
            Lupashin,V.V.
  TITLE     COG Complex Complexities: Detailed Characterization of a Complete
            Set of HEK293T Cells Lacking Individual COG Subunits
  JOURNAL   Front Cell Dev Biol 4, 23 (2016)
   PUBMED   27066481
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4629)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 4629)
  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 4629)
  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 4629)
  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 4629)
  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 4629)
  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 BC121022.1, BC017492.1 and
            AC026464.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 19, 2019 this sequence version replaced NM_032382.4.
            
            Summary: This gene encodes a protein that is a component of the
            conserved oligomeric Golgi (COG) complex, a multiprotein complex
            that plays a structural role in the Golgi apparatus, and is
            involved in intracellular membrane trafficking and glycoprotein
            modification. Mutations in this gene cause congenital disorder of
            glycosylation, type IIh, a disease that is characterized by
            under-glycosylated serum proteins, and whose symptoms include
            severe psychomotor retardation, failure to thrive, seizures, and
            dairy and wheat product intolerance. [provided by RefSeq, Jul
            2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR11853566.10473.1,
                                           SRR11853565.11394.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306875.10/ ENSP00000305459.6
            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
            1-1950              BC121022.1         20-1969
            1951-2436           BC017492.1         814-1299
            2437-4629           AC026464.7         51548-53740         c
FEATURES             Location/Qualifiers
     source          1..4629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..4629
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="component of oligomeric golgi complex 8"
                     /db_xref="GeneID:84342"
                     /db_xref="HGNC:HGNC:18623"
                     /db_xref="MIM:606979"
     exon            1..389
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1851
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dependent on RIC1; conserved oligomeric Golgi complex
                     subunit 8; conserved oligomeric golgi complex component 8;
                     COG complex subunit 8"
                     /codon_start=1
                     /product="conserved oligomeric Golgi complex subunit 8
                     isoform 1"
                     /protein_id="NP_115758.3"
                     /db_xref="CCDS:CCDS10876.1"
                     /db_xref="GeneID:84342"
                     /db_xref="HGNC:HGNC:18623"
                     /db_xref="MIM:606979"
                     /translation="MATAATIPSVATATAAALGEVEDEGLLASLFRDRFPEAQWRERP
                     DVGRYLRELSGSGLERLRREPERLAEERAQLLQQTRDLAFANYKTFIRGAECTERIHR
                     LFGDVEASLGRLLDRLPSFQQSCRNFVKEAEEISSNRRMNSLTLNRHTEILEILEIPQ
                     LMDTCVRNSYYEEALELAAYVRRLERKYSSIPVIQGIVNEVRQSMQLMLSQLIQQLRT
                     NIQLPACLRVIGYLRRMDVFTEAELRVKFLQARDAWLRSILTAIPNDDPYFHITKTIE
                     ASRVHLFDIITQYRAIFSDEDPLLPPAMGEHTVNESAIFHGWVLQKVSQFLQVLETDL
                     YRGIGGHLDSLLGQCMYFGLSFSRVGADFRGQLAPVFQRVAISTFQKAIQETVEKFQE
                     EMNSYMLISAPAILGTSNMPAAVPATQPGTLQPPMVLLDFPPLACFLNNILVAFNDLR
                     LCCPVALAQDVTGALEDALAKVTKIILAFHRAEEAAFSSGEQELFVQFCTVFLEDLVP
                     YLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNLGHVNIGAIQEPLAFILPKRETLFTLD
                     DQALGPELTAPAPEPPAEEPRLEPAGPACPEGGRAETQAEPPSVGP"
     exon            390..597
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            598..1425
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1594
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1877
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..4629
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2436
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="major polyA site"
     regulatory      2501..2506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="hexamer: AATGAA"
     polyA_site      2526
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
     regulatory      4122..4127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="hexamer: AATAAA"
     polyA_site      4144
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
     regulatory      4602..4607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
                     /note="hexamer: AGTAAA"
     polyA_site      4629
                     /gene="COG8"
                     /gene_synonym="CDG2H; DOR1"
ORIGIN      
        1 gttgctggga agatggcgac cgcggcgact atcccatcgg tagccacggc cacagcagcg
       61 gctctcggcg aggtggagga tgaagggctc ctggcgtcgc tgttccggga ccgcttcccc
      121 gaggcccagt ggcgcgagcg gcccgatgtg ggccgctacc tccgggagtt gagcggctcg
      181 gggctggagc ggctgcggcg cgagcccgag cgcctggcgg aggagcgggc gcagctgctg
      241 cagcagacgc gcgacttggc cttcgctaac tacaagacct tcatccgcgg cgccgagtgc
      301 accgagcgca tccaccgcct gtttggcgac gtggaggcgt cgctcggccg cctgctcgac
      361 cgtttgccca gcttccagca gagctgcagg aactttgtga aggaagccga ggagatcagc
      421 tccaaccgcc ggatgaatag cctgacccta aaccggcaca cagaaatttt ggaaatactg
      481 gagattcctc agctcatgga cacctgtgtc cggaacagtt attatgaaga ggccctggag
      541 cttgcagcct acgtacgccg actggagagg aaatactctt ccatccctgt catccagggc
      601 atcgtgaacg aagtgcgcca gtccatgcag ctgatgctga gccagctgat ccagcaactg
      661 aggaccaaca tccagcttcc tgcctgcctc cgtgtcattg gctacctgcg gcgcatggac
      721 gtcttcactg aggctgagtt gagggtgaag tttcttcagg cccgagatgc ttggctccgg
      781 tccatcctga ctgccattcc taatgatgat ccctatttcc atattacaaa aaccatcgag
      841 gcctcccgtg tccatctctt tgatatcatc acccagtacc gtgccatctt ctcagacgag
      901 gacccactgc tgccccctgc catgggtgag cacactgtga atgagagtgc catcttccat
      961 ggctgggtgc tacagaaggt ctcacaattc ctgcaggtgc tggagaccga cctttaccgg
     1021 ggcataggcg gccacctgga ctctctgctg ggccagtgca tgtactttgg gctgtccttc
     1081 agccgggtgg gagctgattt ccggggtcag ttggctcctg ttttccagcg ggtggccatc
     1141 agcactttcc agaaagcaat tcaggaaaca gtggagaaat tccaggaaga aatgaactcc
     1201 tacatgctca tctcggctcc agccatcctg ggcaccagta acatgcctgc tgctgtgcca
     1261 gccacccagc cggggacgct gcagccaccc atggtgctcc tagatttccc acccctcgcc
     1321 tgctttctca acaatattct ggttgccttc aatgatctgc gcctctgctg ccctgtggcc
     1381 ctggcgcagg atgtgactgg ggccttggaa gatgcccttg ccaaggtaac taaaataatc
     1441 ctggccttcc atcgcgctga agaggctgcc ttcagcagcg gggagcaaga gctctttgtc
     1501 cagttctgca ctgtcttcct ggaagacctt gttccgtatt taaatcgctg tctccaagtc
     1561 ctttttccac cagctcagat agcacagact ttaggcattc ctcccactca gctctccaag
     1621 tacggtaacc tagggcatgt gaacatcggc gccattcagg agcccctcgc ctttatcctg
     1681 ccaaagagag agacgctttt caccctggat gaccaggcgc tggggcccga gctcacagct
     1741 ccagcaccag agcctcccgc cgaggagcca cgcctggagc ccgcgggccc agcctgcccg
     1801 gagggagggc gagcggagac gcaggccgaa ccgcccagcg tggggcccta gccggcgtcc
     1861 cctgcctcca gaacgcgggc tggaccccaa tggagaacag gtggtgtggc aggcgagcgg
     1921 gtgggcagcc cgcatcatcc agcacgagat ggaccacctg cagggctgcc tgtttattga
     1981 caaaatggac agcaggacgt tcacaaacgt ctattggatg aaggtgaatg actaaagctt
     2041 tgctactggg gctgaggatt ccggatacca agacgcaaac actttcactt tgagctgggc
     2101 aaatcttact tggcatcaac ttggatggct cgcatatgac aggaaactgg attgccaagg
     2161 catggcagac tgagctggag gaagatgtca gaaatgtttg ccctgaaatc agttacggac
     2221 aaaatgttgg ctacaacttg aggagaaaaa tcacccccaa aggagtggac atttcctaac
     2281 aattctgtat ggaggaaggt ggggtaattg cattcgtctg cagtagacac gagttcctcg
     2341 gacctgtata atctcccaaa gccaaggttt ggtaataatg tagtccccaa atacctgaaa
     2401 gctgtcttta aaaatgcagg taagcatgtg actggccatt tgtgccgagt tcttattttt
     2461 acggagggct tgtggcctta gacgccagtt tgcttatgga aatgaaagag aatagtccct
     2521 gttcaaggat gtgtttcatg acagcacgag tgtaaatgag tgcccacaca ttttaacagc
     2581 cttgggcagg attttgctgc tgagatccct agagcagctg gttcttggct cattcttggg
     2641 gtagaggccg tggatcaggg ctgggggcag gggtgacaat tgagaagtgc actgagccct
     2701 ttcctgttaa caattgggca tagaaagcag gattagtact tcctggttat acacttattt
     2761 tgtaaaaata gaattaatat cacagcaacc aatgtgtagg tttaagaaag tggccaggtg
     2821 cagtggttca cgcctgtaat cccagcactt tgggagggcg gggcgggtgg atcacgaggt
     2881 caggagctca agaccagcct ggccaagatg gtgaaaccct gtctctacta aagatacaaa
     2941 aattagccgg gcgtggtggc gagcacctgt aatcccagct actcgtgaag ccaaggcaga
     3001 gaattacttg aacccaggag gcggaggtta cagtgagctg agatcacgcc actgcactcc
     3061 atccagcctg ggcgacagag cgagactcaa aagtatgatt ctggctgtag agttttcttt
     3121 ttttctctgt ctcaaaaaaa aaaagtgtca gctttgtctt gtcaagaggt gaaggaactt
     3181 gttttattct tttatttttt ttttaagata gagacggggg tcttactatg ttgcccaggc
     3241 tggcctcaaa ttcctggtct caggcaatcc tcctgcctcg gcctcccaaa gtgctgggat
     3301 cagttgtgag ccacactacc cagccaaact ccagttttag ttaaactgtt tcacctcatt
     3361 tttatgctga gttttgtaaa gtaggtattc ttgctgaaca gagtcctgaa aatcaaacta
     3421 tacaagtagt aggaagtcca ttaagctgtt tagaggaaaa agtgttataa atggcagtta
     3481 aatgaaccca ggaaagaccc atcctccttt gtggctttct ctgaggcccc atgaggccaa
     3541 gcagaagcaa actggctcta ggtgcagcca gactttgaaa aggaatcccg gccaggcttg
     3601 gtggctcatg cctgtaatcc cagcactttg ggaggtcaag gcaggcagat cacctgaggt
     3661 caggagttca agaccagcct ggccaacatg gcgaaacact gtttctacta aaaatatgaa
     3721 aattagctgg gtgtgctggt aggcgcctgt aatcacagct acttgggagg ctgaggcggg
     3781 agaatcgctc aaacctggga ggcagaggtt gcagtgggct gagatctcgc cactgtactc
     3841 cagcctgggc gacagaccaa ggctctgtct caaaaaaaaa aaaaaaaaaa aaaaaaggga
     3901 atcccaacca gatactggtg caaggtcaga gatgcagcca atggggagat ttgtagaaag
     3961 ctcatagatg ctaaaaacat gggtctttag gaaaattaga attcagctga gcctcctttc
     4021 atttggacaa tgttcagaag ctcttacagg gggctatggc aatcttttga tgcttcttat
     4081 agctttctga ggttaacgct tttgtggtgg gcatcggtag caataaaatg caaactttat
     4141 tgcatttcca gtaaaatctc tcccactttg agcaggaagc actcacaaaa aacgcatata
     4201 catgtcaacg ttgtgagctc atcagagttt tagaaatcaa cttccacagt gaaagccaat
     4261 gtaggcagaa ggtttataac agaatcccca ggcagagaag tgaatttcag agcatttcag
     4321 ggaggaaact cctctgcaca tgtcagcatg tttaacatcg atgatggcag gttgtgtgct
     4381 ggcagccaga gtctgaggcc actgtccaaa gttcagcgtc agtggttcct gttgctggtc
     4441 atggagagag acaactggaa agtcaggtgt cttcacgctc taactagagc acagggatgg
     4501 accatagcca tgctaacctt tgttaacccc taggacttgt caaggtgttt aagcagtagg
     4561 aatgaggaaa caacgttctg attcaagtaa atgtaactag aagtaaaaat ttaaaaactt
     4621 gtaagctca
//
