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    TMEM241 transmembrane protein 241 [ Homo sapiens (human) ]

    Gene ID: 85019, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM241provided by HGNC
    Official Full Name
    transmembrane protein 241provided by HGNC
    Primary source
    HGNC:HGNC:31723
    See related
    Ensembl:ENSG00000134490 MIM:615430; AllianceGenome:HGNC:31723
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hVVT; SLC35D4; C18orf45
    Summary
    Enables UDP-N-acetylglucosamine transmembrane transporter activity. Involved in UDP-N-acetylglucosamine transmembrane transport. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM241 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (23238522..23437961, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (23438007..23632036, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (20875977..21017925, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RB binding protein 8, endonuclease Neighboring gene RNA, 7SL, cytoplasmic 745, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20664224-20664724 Neighboring gene Sharpr-MPRA regulatory region 2761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685239-20685740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20685741-20686240 Neighboring gene uncharacterized LOC124904266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20701091-20701590 Neighboring gene NANOG hESC enhancer GRCh37_chr18:20702454-20703005 Neighboring gene Sharpr-MPRA regulatory region 2996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20738534-20739053 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20749225-20750158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9355 Neighboring gene Cdk5 and Abl enzyme substrate 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20762837-20763336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20768869-20769375 Neighboring gene MPRA-validated peak3070 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20776067-20776663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13149 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20829775-20830276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20839263-20839926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20862678-20863368 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864751-20865440 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20864059-20864750 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20869474-20870086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20870087-20870699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20882361-20883251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887449-20887950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:20887951-20888450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:20910236-20910904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:20956411-20956910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13154 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:20963589-20963764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21033050-21033550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13162 Neighboring gene NANOG hESC enhancer GRCh37_chr18:21085432-21085935 Neighboring gene RIO kinase 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:21098843-21100042 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:21109032-21110231 Neighboring gene regulator of MON1-CCZ1 Neighboring gene NPC intracellular cholesterol transporter 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P modification of NPC2 and cholesterol transport. Zhao N, et al. J Lipid Res, 2023 Dec. PMID 37890669, Free PMC Article
    2. Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene. Rodríguez A, et al. Arterioscler Thromb Vasc Biol, 2016 Jul. PMID 27199446, Free PMC Article
    3. Hyperactivity of the Ero1α oxidase elicits endoplasmic reticulum stress but no broad antioxidant response. Hansen HG, et al. J Biol Chem, 2012 Nov 16. PMID 23027870, Free PMC Article
    4. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
    5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
      Title: Molecular Characterization of the Lipid Genome-Wide Association Study Signal on Chromosome 18q11.2 Implicates HNF4A-Mediated Regulation of the TMEM241 Gene.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44259, MGC11386, MGC138577

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-N-acetylglucosamine transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    UDP-N-acetylglucosamine transporter TMEM241
    Names
    putative vertebrate vrg4-like nucleotide-sugar transporter truncated variant2
    putative vertebrate vrg4-like nucleotide-sugar transporter variant1
    solute carrier family 35 member D4
    transmembrane protein C18orf45

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318834.2 → NP_001305763.1  UDP-N-acetylglucosamine transporter TMEM241 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon which results in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB253739, AK294916, BC054507, DA385968
      UniProtKB/TrEMBL
      Q7L033

    2. NM_032933.6 → NP_116322.3  UDP-N-acetylglucosamine transporter TMEM241 isoform 1

      See identical proteins and their annotated locations for NP_116322.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK126247, BC054507, BC114510, BC114561
      Consensus CDS
      CCDS11876.2
      UniProtKB/Swiss-Prot
      I0J130, Q24JQ0, Q6ZTS7, Q6ZW41
      Related
      ENSP00000372720.3, ENST00000383233.8
      Conserved Domains (1) summary
      COG5070
      Location:10 → 193
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

    RNA

    1. NR_134875.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK126247, AK294916, BC054507, DA385968
      Related
      ENST00000473688.5

    2. NR_134876.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several internal exons and contains one alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011731, AK123623, BC006280, DA385968
      Related
      ENST00000477053.5

    3. NR_134877.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294916, AK303553, BC054507, DA385968

    4. NR_148382.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011731, AC026634, BC082984

    5. NR_148383.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011731, AC026634, BC082984

    6. NR_148384.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011731, AC026634, BC082984

    7. NR_148385.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011731, AC026634, BC082984

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      23238522..23437961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437896.1 → XP_047293852.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X7

    2. XM_047437894.1 → XP_047293850.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X5

    3. XM_047437900.1 → XP_047293856.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X12

    4. XM_047437899.1 → XP_047293855.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X11

    5. XM_047437897.1 → XP_047293853.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X8

    6. XM_017026045.2 → XP_016881534.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X9

    7. XM_047437898.1 → XP_047293854.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X10

    8. XM_047437895.1 → XP_047293851.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X6

    9. XM_047437892.1 → XP_047293848.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X3

    10. XM_047437891.1 → XP_047293847.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X1

    11. XM_047437893.1 → XP_047293849.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X4

    12. XM_011526233.3 → XP_011524535.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X2

      Conserved Domains (1) summary
      COG5070
      Location:10 → 193
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

    RNA

    1. XR_001753290.3 RNA Sequence

    2. XR_001753288.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      23438007..23632036 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319283.1 → XP_054175258.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X7

    2. XM_054319281.1 → XP_054175256.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X5

    3. XM_054319289.1 → XP_054175264.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X12

    4. XM_054319288.1 → XP_054175263.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X11

    5. XM_054319287.1 → XP_054175262.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X13

    6. XM_054319285.1 → XP_054175260.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X8

    7. XM_054319284.1 → XP_054175259.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X9

    8. XM_054319286.1 → XP_054175261.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X10

    9. XM_054319282.1 → XP_054175257.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X6

    10. XM_054319279.1 → XP_054175254.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X3

    11. XM_054319277.1 → XP_054175252.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X1

    12. XM_054319280.1 → XP_054175255.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X4

    13. XM_054319278.1 → XP_054175253.1  UDP-N-acetylglucosamine transporter TMEM241 isoform X2

    RNA

    1. XR_008485029.1 RNA Sequence

    2. XR_008485028.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q24JQ0.1 GenPept UniProtKB/Swiss-Prot:Q24JQ0

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