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TMEM241 transmembrane protein 241 [ Homo sapiens (human) ]

Gene ID: 85019, updated on 2-Nov-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, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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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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