LOCUS       NM_018475               1931 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 165 (TMEM165), transcript
            variant 1, mRNA.
ACCESSION   NM_018475
VERSION     NM_018475.5
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 1931)
  AUTHORS   Vicogne,D., Beauval,N., Durin,Z., Allorge,D., Kondratska,K.,
            Haustrate,A., Prevarskaya,N., Lupashin,V., Legrand,D. and
            Foulquier,F.
  TITLE     Insights into the regulation of cellular Mn2+ homeostasis via
            TMEM165
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (6), 166717 (2023)
   PUBMED   37062452
  REMARK    GeneRIF: Insights into the regulation of cellular Mn[2+]
            homeostasis via TMEM165.
REFERENCE   2  (bases 1 to 1931)
  AUTHORS   Haouari,W., Dubail,J., Lounis-Ouaras,S., Prada,P., Bennani,R.,
            Roseau,C., Huber,C., Afenjar,A., Colin,E., Vuillaumier-Barrot,S.,
            Seta,N., Foulquier,F., Pous,C., Cormier-Daire,V. and Bruneel,A.
  TITLE     Serum bikunin isoforms in congenital disorders of glycosylation and
            linkeropathies
  JOURNAL   J Inherit Metab Dis 43 (6), 1349-1359 (2020)
   PUBMED   32700771
  REMARK    GeneRIF: Serum bikunin isoforms in congenital disorders of
            glycosylation and linkeropathies.
            Erratum:[J Inherit Metab Dis. 2022 Nov;45(6):1206. doi:
            10.1002/jimd.12424.. PMID: 36343938]
REFERENCE   3  (bases 1 to 1931)
  AUTHORS   Stribny,J., Thines,L., Deschamps,A., Goffin,P. and Morsomme,P.
  TITLE     The human Golgi protein TMEM165 transports calcium and manganese in
            yeast and bacterial cells
  JOURNAL   J Biol Chem 295 (12), 3865-3874 (2020)
   PUBMED   32047108
  REMARK    GeneRIF: The human Golgi protein TMEM165 transports calcium and
            manganese in yeast and bacterial cells.
REFERENCE   4  (bases 1 to 1931)
  AUTHORS   Vicogne,D., Houdou,M., Garat,A., Climer,L., Lupashin,V., Morelle,W.
            and Foulquier,F.
  TITLE     Fetal bovine serum impacts the observed N-glycosylation defects in
            TMEM165 KO HEK cells
  JOURNAL   J Inherit Metab Dis 43 (2), 357-366 (2020)
   PUBMED   31415112
  REMARK    GeneRIF: Fetal bovine serum impacts the observed N-glycosylation
            defects in TMEM165 KO HEK cells.
REFERENCE   5  (bases 1 to 1931)
  AUTHORS   Lebredonchel,E., Houdou,M., Hoffmann,H.H., Kondratska,K.,
            Krzewinski,M.A., Vicogne,D., Rice,C.M., Klein,A. and Foulquier,F.
  TITLE     Investigating the functional link between TMEM165 and SPCA1
  JOURNAL   Biochem J 476 (21), 3281-3293 (2019)
   PUBMED   31652305
  REMARK    GeneRIF: TMEM165 was constitutively degraded in lysosomes in the
            absence of SPCA1.
REFERENCE   6  (bases 1 to 1931)
  AUTHORS   Demaegd,D., Foulquier,F., Colinet,A.S., Gremillon,L., Legrand,D.,
            Mariot,P., Peiter,E., Van Schaftingen,E., Matthijs,G. and
            Morsomme,P.
  TITLE     Newly characterized Golgi-localized family of proteins is involved
            in calcium and pH homeostasis in yeast and human cells
  JOURNAL   Proc Natl Acad Sci U S A 110 (17), 6859-6864 (2013)
   PUBMED   23569283
  REMARK    GeneRIF: Defects in TMEM165 affect both Ca2+ and pH homeostasis.
REFERENCE   7  (bases 1 to 1931)
  AUTHORS   Foulquier,F., Amyere,M., Jaeken,J., Zeevaert,R., Schollen,E.,
            Race,V., Bammens,R., Morelle,W., Rosnoblet,C., Legrand,D.,
            Demaegd,D., Buist,N., Cheillan,D., Guffon,N., Morsomme,P.,
            Annaert,W., Freeze,H.H., Van Schaftingen,E., Vikkula,M. and
            Matthijs,G.
  TITLE     TMEM165 deficiency causes a congenital disorder of glycosylation
  JOURNAL   Am J Hum Genet 91 (1), 15-26 (2012)
   PUBMED   22683087
  REMARK    GeneRIF: we identified TMEM165 (also named TPARL) as a gene
            involved in congenital disorders of glycosylation (CDG).
REFERENCE   8  (bases 1 to 1931)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   9  (bases 1 to 1931)
  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
REFERENCE   10 (bases 1 to 1931)
  AUTHORS   Akagi,J., Nomiyama,H., Setoyama,C., Shimada,K. and Akagi,M.
  TITLE     Messenger RNA expressed in mouse teratocarcinoma stem cells and
            down-regulated by a tumor-promoting phorbol ester codes for a novel
            transmembrane protein
  JOURNAL   Biochem Biophys Res Commun 157 (2), 548-557 (1988)
   PUBMED   3202867
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY089602.1, BC107582.1 and
            AF183409.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018475.4.
            
            Summary: This gene encodes a predicted transmembrane protein with a
            perinuclear Golgi-like distribution in fibroblasts. Mutations in
            this gene are associated with the autosomal recessive disorder
            congenital disorder of glycosylation, type IIk. Knockdown of this
            gene's expression causes decreased sialylation in HEK cells and
            suggests this gene plays a role in terminal Golgi glycosylation.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript.
            
            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 :: SRR1163657.222347.1, BC107582.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381334.10/ ENSP00000370736.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-483               HY089602.1         47-529
            484-1776            BC107582.1         488-1780
            1777-1931           AF183409.1         1543-1697
FEATURES             Location/Qualifiers
     source          1..1931
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..1931
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="transmembrane protein 165"
                     /db_xref="GeneID:55858"
                     /db_xref="HGNC:HGNC:30760"
                     /db_xref="MIM:614726"
     exon            1..440
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     CDS             234..1208
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="TPA regulated locus; transmembrane protein PT27;
                     transmembrane protein TPARL; putative divalent
                     cation/proton antiporter TMEM165"
                     /codon_start=1
                     /product="putative divalent cation/proton antiporter
                     TMEM165 precursor"
                     /protein_id="NP_060945.2"
                     /db_xref="CCDS:CCDS3499.1"
                     /db_xref="GeneID:55858"
                     /db_xref="HGNC:HGNC:30760"
                     /db_xref="MIM:614726"
                     /translation="MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNK
                     EPPAPAQQLQPQPVAVQGPEPARVEKIFTPAAPVHTNKEDPATQTNLGFIHAFVAAIS
                     VIIVSELGDKTFFIAAIMAMRYNRLTVLAGAMLALGLMTCLSVLFGYATTVIPRVYTY
                     YVSTVLFAIFGIRMLREGLKMSPDEGQEELEEVQAELKKKDEEFQRTKLLNGPGDVET
                     GTSITVPQKKWLHFISPIFVQALTLTFLAEWGDRSQLTTIVLAAREDPYGVAVGGTVG
                     HCLCTGLAVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPDSGF"
     exon            441..666
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     exon            667..842
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     exon            843..1025
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1131
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1931
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1375..1380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="hexamer: AACAAG"
     polyA_site      1395
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="major polyA site"
     regulatory      1910..1915
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="hexamer: AATAAA"
     polyA_site      1931
                     /gene="TMEM165"
                     /gene_synonym="CDG2K; FT27; GDT1; SLC64A1; TMPT27; TPARL"
                     /note="major polyA site"
ORIGIN      
        1 gactccagtt tagccgccgc cggagaggac gggcgccgag ccggggctgc ggacttcggc
       61 ctgcccctca cctcactccc gctgcttgca cctcccggat ggtgctgact gctccctaag
      121 cggcggcggc ggcgagtcgt gaggacgcgc cgcggaggct gttcggggtc gaggcttccc
      181 gtcgccggca cttcctcttg cggcgcccgt gcgcggccgg cccggcaggc gggatggcgg
      241 ccgcggctcc agggaacggc cgcgcatcgg cgccccggct gcttctgctc tttctggttc
      301 cgctgctgtg ggccccggct gcggtccggg ccggcccaga tgaagacctt agccaccgga
      361 acaaagaacc gccggcgccg gcccagcagc tgcagccgca gcctgtggct gtgcagggcc
      421 ccgagccggc ccgggtcgag aaaatattta caccagcagc tccagttcat accaataaag
      481 aagatcctgc tacccaaact aatttgggat ttatccatgc atttgtcgct gccatatcag
      541 ttattattgt atctgaattg ggtgataaga cattttttat agcagccatc atggcaatgc
      601 gctataaccg cctgaccgtg ctggctggtg caatgcttgc cttgggacta atgacatgct
      661 tgtcagtttt gtttggctat gccaccacag tcatccccag ggtctataca tactatgttt
      721 caactgtatt atttgccatt tttggcatta gaatgcttcg ggaaggctta aagatgagcc
      781 ctgatgaggg tcaagaggaa ctggaagaag ttcaagctga attaaagaag aaagatgaag
      841 aatttcaacg aaccaaactt ttaaatggac cgggagatgt tgaaacgggt acaagcataa
      901 cagtacctca gaaaaagtgg ttgcatttta tttcacccat ttttgttcaa gctcttacat
      961 taacattctt agcagaatgg ggtgatcgct ctcaactaac tacaattgta ttggcagcta
     1021 gagaggaccc ctatggtgta gccgtgggtg gaactgtggg gcactgcctg tgcacgggat
     1081 tggcagtaat tggaggaaga atgatagcac agaaaatctc tgtcagaact gtgacaatca
     1141 taggaggcat cgtttttttg gcgtttgcat tttctgcact atttataagc cctgattctg
     1201 gtttttaaca agctgtttgt tcatctatat ttagtttaaa ataggtagta ttatctttct
     1261 gtacatagtg tacattacaa ctaaaagtga tggaaaaata ctgtattttg tagcactgat
     1321 tttgtgagtt tgacccatta ttatgtctga gatataatca ttgattctat ttgtaacaag
     1381 gagttttaaa agaaacctga cttctaagtg tgggtttttc ttctctccaa cataattatg
     1441 ttaatatggt cctcattttt cttttggtgc agaaccgttg tgcagtgggg tctaccatgc
     1501 aattttcttt cagcactgac ccctttttaa ggaatacaaa ttttctcctt catcacttag
     1561 gtgttttaag atgtttacct taaagttttt cttggggaaa gaatgaatta atttctattt
     1621 cttaaaacat ttccctgagc cagtaaacag tagtttaatc attggtcttt tcaaaactag
     1681 gtgtttaaaa aaagagacat atatgatatt gctgttatat caataacatg gcacaacaag
     1741 aactgtctgc caggtcattc ttcctctttt ttttttaatt gggtaggaca cccaatataa
     1801 aaacagtcaa tatttgacaa tgtggaatta ccaaattaaa agagaatact atgaatgtat
     1861 tcatattttt tctatattga ataaacaatg taacatagat aacaatataa ataaaagtgg
     1921 tatgaccagt g
//
