LOCUS       NM_032933               2994 bp    mRNA    linear   PRI 14-APR-2024
DEFINITION  Homo sapiens transmembrane protein 241 (TMEM241), transcript
            variant 1, mRNA.
ACCESSION   NM_032933
VERSION     NM_032933.6
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 2994)
  AUTHORS   Zhao,N., Deng,G., Yuan,P.X., Zhang,Y.F., Jiang,L.Y., Zhao,X. and
            Song,B.L.
  TITLE     TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P
            modification of NPC2 and cholesterol transport
  JOURNAL   J Lipid Res 64 (12), 100465 (2023)
   PUBMED   37890669
REFERENCE   2  (bases 1 to 2994)
  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   3  (bases 1 to 2994)
  AUTHORS   Rodriguez,A., Gonzalez,L., Ko,A., Alvarez,M., Miao,Z., Bhagat,Y.,
            Nikkola,E., Cruz-Bautista,I., Arellano-Campos,O.,
            Munoz-Hernandez,L.L., Ordonez-Sanchez,M.L., Rodriguez-Guillen,R.,
            Mohlke,K.L., Laakso,M., Tusie-Luna,T., Aguilar-Salinas,C.A. and
            Pajukanta,P.
  TITLE     Molecular Characterization of the Lipid Genome-Wide Association
            Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated
            Regulation of the TMEM241 Gene
  JOURNAL   Arterioscler Thromb Vasc Biol 36 (7), 1350-1355 (2016)
   PUBMED   27199446
  REMARK    GeneRIF: The Mexican genome-wide association study signal for high
            serum triglycerides on chromosome 18q11.2 harbors a regulatory
            single-nucleotide polymorphism, rs17259126, which disrupts normal
            hepatocyte nuclear factor 4 alpha binding and decreases the
            expression of the regional TMEM241 gene. Our data suggest that
            decreased transcript levels of TMEM241 contribute to increased
            triglyceride levels in Mexicans.
REFERENCE   4  (bases 1 to 2994)
  AUTHORS   Weissglas-Volkov,D., Aguilar-Salinas,C.A., Nikkola,E., Deere,K.A.,
            Cruz-Bautista,I., Arellano-Campos,O., Munoz-Hernandez,L.L.,
            Gomez-Munguia,L., Ordonez-Sanchez,M.L., Reddy,P.M., Lusis,A.J.,
            Matikainen,N., Taskinen,M.R., Riba,L., Cantor,R.M.,
            Sinsheimer,J.S., Tusie-Luna,T. and Pajukanta,P.
  TITLE     Genomic study in Mexicans identifies a new locus for triglycerides
            and refines European lipid loci
  JOURNAL   J Med Genet 50 (5), 298-308 (2013)
   PUBMED   23505323
REFERENCE   5  (bases 1 to 2994)
  AUTHORS   Hansen,H.G., Schmidt,J.D., Soltoft,C.L., Ramming,T.,
            Geertz-Hansen,H.M., Christensen,B., Sorensen,E.S., Juncker,A.S.,
            Appenzeller-Herzog,C. and Ellgaard,L.
  TITLE     Hyperactivity of the Ero1alpha oxidase elicits endoplasmic
            reticulum stress but no broad antioxidant response
  JOURNAL   J Biol Chem 287 (47), 39513-39523 (2012)
   PUBMED   23027870
REFERENCE   6  (bases 1 to 2994)
  AUTHORS   Zhao,J., Li,M., Bradfield,J.P., Zhang,H., Mentch,F.D., Wang,K.,
            Sleiman,P.M., Kim,C.E., Glessner,J.T., Hou,C., Keating,B.J.,
            Thomas,K.A., Garris,M.L., Deliard,S., Frackelton,E.C., Otieno,F.G.,
            Chiavacci,R.M., Berkowitz,R.I., Hakonarson,H. and Grant,S.F.
  TITLE     The role of height-associated loci identified in genome wide
            association studies in the determination of pediatric stature
  JOURNAL   BMC Med Genet 11, 96 (2010)
   PUBMED   20546612
  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
            AK126247.1, BC114510.1, BC114561.1 and BC054507.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032933.5.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.10488.1,
                                           SRR1803616.228110.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000383233.8/ ENSP00000372720.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AK126247.1         1-89
            90-499              BC114510.1         34-443
            500-1359            BC114561.1         444-1303
            1360-2148           BC054507.1         865-1653
            2149-2244           BC054507.1         1655-1750
            2245-2994           BC054507.1         1753-2502
FEATURES             Location/Qualifiers
     source          1..2994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..2994
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /note="transmembrane protein 241"
                     /db_xref="GeneID:85019"
                     /db_xref="HGNC:HGNC:31723"
                     /db_xref="MIM:615430"
     exon            1..181
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1000
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein C18orf45; putative vertebrate
                     vrg4-like nucleotide-sugar transporter variant1; solute
                     carrier family 35 member D4; putative vertebrate vrg4-like
                     nucleotide-sugar transporter truncated variant2;
                     UDP-N-acetylglucosamine transporter TMEM241"
                     /codon_start=1
                     /product="UDP-N-acetylglucosamine transporter TMEM241
                     isoform 1"
                     /protein_id="NP_116322.3"
                     /db_xref="CCDS:CCDS11876.2"
                     /db_xref="GeneID:85019"
                     /db_xref="HGNC:HGNC:31723"
                     /db_xref="MIM:615430"
                     /translation="MCVRRSLVGLTFCTCYLASYLTNKYVLSVLKFTYPTLFQGWQTL
                     IGGLLLHVSWKLGWVEINSSSRSHVLVWLPASVLFVGIIYAGSRALSRLAIPVFLTLH
                     NVAEVIICGYQKCFQKEKTSPAKICSALLLLAAAGCLPFNDSQFNPDGYFWAIIHLLC
                     VGAYKILQKSQKPSALSDIDQQYLNYIFSVVLLAFASHPTGDLFSVLDFPFLYFYRFH
                     GSCCASGFLGFFLMFSTVKLKNLLAPGQCAAWIFFAKIITAGLSILLFDAILTSATTG
                     CLLLGALGEALLVFSERKSS"
     exon            182..228
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            229..306
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            307..388
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            389..466
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            467..492
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            493..544
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            545..593
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            594..639
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            640..675
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            676..710
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            711..780
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            781..874
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            875..939
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     exon            940..2994
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2978..2983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /note="hexamer: AATGAA"
     polyA_site      2994
                     /gene="TMEM241"
                     /gene_synonym="C18orf45; hVVT; SLC35D4"
                     /note="major polyA site"
ORIGIN      
        1 gtctctgggc ggctgctgcc gctgccgctg ctgctgctgc gggggtcggg cggcggccag
       61 gggatttggg caggcaccgt ggatccccga gaaggggacg agttgacaga tgtgcgtgag
      121 gaggtctctg gtcggcctca ccttttgtac ctgctacctg gcttcttacc tcacgaacaa
      181 gtatgtgctg tctgtcttga aatttaccta ccctacatta ttccaagggt ggcagacgct
      241 cattggtgga cttttgcttc atgtgtcctg gaaactgggc tgggtagaga tcaacagcag
      301 ttcaagatct catgttcttg tgtggcttcc tgcttcagtg ctgtttgtgg gtataatcta
      361 tgctgggtcc agagcattgt ccagactggc cattcctgtg tttctcactt tgcataatgt
      421 agctgaagtt atcatctgtg ggtaccagaa gtgttttcag aaagagaaaa catctcctgc
      481 aaagatctgt agtgccctcc tcctcctggc cgcagcagga tgccttccct tcaatgactc
      541 ccagtttaat ccagatggat atttttgggc tataattcac ttactctgtg taggggctta
      601 taaaattcta cagaagtccc agaaacccag tgcattaagt gacattgacc agcaatactt
      661 aaactatata ttcagtgtgg tgctcctggc atttgcatct catcccacag gtgatctctt
      721 cagcgtcctg gacttcccat tcctgtactt ctacagattc catggtagct gctgtgccag
      781 tggatttttg ggattctttc tcatgttcag tacagtgaag ctaaaaaacc ttctggcccc
      841 agggcagtgt gcagcctgga ttttctttgc taagataatc acagctggct tatcaatatt
      901 gctgtttgat gcgatcctga ccagtgcaac cacgggatgc ctcctgctcg gtgcgcttgg
      961 agaggccttg ctggttttct cagagcggaa gagctcctga acaagacggt caagagaaag
     1021 actcacaggc tgctgcggga gaacagcttg tacacctgtg tacgagcccc tggtctcata
     1081 gctccctgtt ggatgtgtca gaaagaggaa tgcaaggaca gtgaggccag gtgggcagtg
     1141 ccatcaccct cacccaagtg aatgtggtgg tggctgatga ggccgaggcc ctggtgcttc
     1201 aaggagcacc ctttctgggg gtctgcaggt cactgcagag gagcggtctg ttacatcttc
     1261 ccatttggag aacctctctc aaccgtgctg tagctggttc tgcagaaaca ggaagtacag
     1321 gatttcatgg gctggctctg ctcgcctcga ctgagcttca cacctctgga tgccacatgc
     1381 tctctcccaa acactgcttt cagtgcaagg tagtgggcct aaggggtttg gttgtctttt
     1441 ttttttttca tttttaaaat tttaaatttt tatttattat tattttttag agacaaggcc
     1501 tcactctatc gcctaggctg aagcacagtg gtgcgatcac agctcgctac agccttgacc
     1561 tcctaggatc aagccatcct cctgcctcag catccacagt agctgatgtg caccaccaga
     1621 cccgtctcat tttttctatt tttattattt tagagatggg gatctcactg tgttggccag
     1681 gctggtctca aactcctggg ctcaagcaat cctcccacct tggcctcaaa gtattgagat
     1741 tacaggcatg agccactgca cccggccttt ctcattttta tttttaaatt gacagacgta
     1801 acagtgcgca tttatcacgc acaacacaat gctttgggaa tggttaaatc tagctcacaa
     1861 atgcattacc tcacacggtt gtcatttttg tggtgaggct tggttgtatg ttttgtttca
     1921 ttcatgtttt tacatccttg gagtctcctc tgggtccgtc ctttctttgc tgtcatgctg
     1981 gcttgcctaa ggcccaccgc cacctgcgta cgagcatttt aaactctaga gtgagtgaca
     2041 gcctttttat ggttggtgtt actatttatt tcctgcctct aaacttctcg tggtccttat
     2101 aaacttgtca ggatgtgtgt tgcgttgaat tctgcatgtc ctttttttgc ccaccctcag
     2161 gttaagctgg tactaactta tccccagagg aaacagggtt tatgagcact gacagatgtc
     2221 ttccctgggc aaaaaaaaaa aaaatagtat atgtatacac acacacatac acatttatat
     2281 ttatatttct taaagctttt aatccctttc attccctgat atctcagaga tttcaaatca
     2341 ttgaacactg aagtatattt ttcaggccag atgaaaaatt gtattaaaac cctattcctg
     2401 gtcaggcgca gtggctcacg cctataatcc cagcactttg ggaggccgaa gtaagcagat
     2461 cacctgaggt cgggagttca agacaaacct ggccaacatg gtgaaaccct gtctctacta
     2521 aaactacaaa aaaattagcc tgatgtggtg ttgtgtgcct gtagtcccag ctacttagga
     2581 ggctgaggta ggagaattgc ttgaacctgg gaggcggagg ttgcagtgag ccaaaattac
     2641 gccactgcac tccagcctgg gcaacagagc gagacagtct caaaaacaac aacaacaaca
     2701 aaaaccctat tccttgcctt tgtaggagtc aaaataaatg aacttctttt ttcttttttt
     2761 tattattata ctttaagttc tggggtacac gtgcagaatg tgcaggtttg ttacataggt
     2821 atgcacgtgc catggtggtt tgctgcaccc atcaacctgt cacctacatt aggtatttcc
     2881 cctaatgtta tccctcccct agccctccat cccctgacag gccctggtgt gtgatgttcc
     2941 cctccctatg tccatgtgtt ctcattgctc caaaataaat gaatttacac aaaa
//
