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    TMEM68 transmembrane protein 68 [ Homo sapiens (human) ]

    Gene ID: 137695, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM68provided by HGNC
    Official Full Name
    transmembrane protein 68provided by HGNC
    Primary source
    HGNC:HGNC:26510
    See related
    Ensembl:ENSG00000167904 AllianceGenome:HGNC:26510
    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
    DIESL; MGAT/DGAT
    Summary
    Enables phospholipid:diacylglycerol acyltransferase activity. Involved in triglyceride biosynthetic process. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.7), prostate (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM68 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (55738758..55773378, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56116033..56150430, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56651317..56685937, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375845 Neighboring gene uncharacterized LOC105375846 Neighboring gene RNA, 5S ribosomal pseudogene 265 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:56684839-56685342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27376 Neighboring gene trimethylguanosine synthase 1 Neighboring gene MPRA-validated peak7024 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27377 Neighboring gene Sharpr-MPRA regulatory region 11739 Neighboring gene Sharpr-MPRA regulatory region 4705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27379 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27383 Neighboring gene Sharpr-MPRA regulatory region 4485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19207 Neighboring gene LYN proto-oncogene, Src family tyrosine kinase Neighboring gene small nucleolar RNA, H/ACA box 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular identification of transmembrane protein 68 as an endoplasmic reticulum-anchored and brain-specific protein. Chang P, et al. PLoS One, 2017. PMID 28472192, Free PMC Article
    2. Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for Triacylglycerol Biosynthesis. Wang Y, et al. Int J Mol Sci, 2023 Jan 19. PMID 36768334, Free PMC Article
    3. Identification of an alternative triglyceride biosynthesis pathway. McLelland GL, et al. Nature, 2023 Sep. PMID 37648867, Free PMC Article
    4. Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations. Zhan M, et al. Hum Mol Genet, 2014 Oct 15. PMID 24852370
    5. A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins. May DG, et al. Viruses, 2022 Mar 15. PMID 35337019, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of an alternative triglyceride biosynthesis pathway.
      Title: Identification of an alternative triglyceride biosynthesis pathway.
    2. Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for Triacylglycerol Biosynthesis.
      Title: Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for Triacylglycerol Biosynthesis.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32370, MGC87778

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid:diacylglycerol acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DGAT1/2-independent enzyme synthesizing storage lipids
    Names
    2-acylglycerol/1,2-diacylglycerol O-acyltransferase
    monoacylglycerol/Diacylglycerol O-acyltransferase
    NP_001273586.1
    NP_001273589.1
    NP_001273590.1
    NP_001350105.1
    NP_001350106.1
    NP_689630.1
    XP_047277316.1
    XP_047277317.1
    XP_054215725.1
    XP_054215726.1

    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_001286657.2 → NP_001273586.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 1

      See identical proteins and their annotated locations for NP_001273586.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC100817, AK056932, AL832935, DA121422, DB370750
      Consensus CDS
      CCDS75742.1
      UniProtKB/Swiss-Prot
      Q658X6, Q8WUD2, Q96MH6
      Related
      ENSP00000395204.2, ENST00000434581.7
      Conserved Domains (1) summary
      cd07987
      Location:103 → 310
      LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

    2. NM_001286660.2 → NP_001273589.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 3

      See identical proteins and their annotated locations for NP_001273589.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' structure compared to variant 1. The encoded isoform (3) is shorter and has a unique C-terminus compared to isoform 1.
      Source sequence(s)
      AC100817, BC071636
      Consensus CDS
      CCDS75741.1
      UniProtKB/TrEMBL
      E5RHI6
      Related
      ENSP00000429210.1, ENST00000521229.5

    3. NM_001286661.2 → NP_001273590.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream AUG compared to variant 1. This variant also lacks an exon in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC100817, CN272366, DB370750
      Consensus CDS
      CCDS75740.1
      UniProtKB/TrEMBL
      E5RJN2, H0YC64
      Related
      ENSP00000429026.1, ENST00000523073.5
      Conserved Domains (1) summary
      cd07987
      Location:1 → 133
      LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

    4. NM_001363176.1 → NP_001350105.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC100817, AK056932, AL832935, DA121422, DA549603, DB370750
      Consensus CDS
      CCDS75742.1
      UniProtKB/Swiss-Prot
      Q658X6, Q8WUD2, Q96MH6
      Conserved Domains (1) summary
      cd07987
      Location:103 → 310
      LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

    5. NM_001363177.1 → NP_001350106.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC100817, AK056932, AL832935, DA121422, DB370750
      UniProtKB/TrEMBL
      E5RHU1
      Related
      ENSP00000429667.1, ENST00000519780.5
      Conserved Domains (1) summary
      cd07987
      Location:1 → 196
      LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

    6. NM_152417.3 → NP_689630.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform 2

      See identical proteins and their annotated locations for NP_689630.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a longer 5' UTR and lacks two in-frame exons in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC100817, AK056932, DB370750
      Consensus CDS
      CCDS6161.1
      UniProtKB/TrEMBL
      E5RJI9
      Related
      ENSP00000335416.2, ENST00000334667.6
      Conserved Domains (1) summary
      cd07987
      Location:103 → 229
      LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

    RNA

    1. NR_156454.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC100817

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      55738758..55773378 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421361.1 → XP_047277317.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform X2

      UniProtKB/TrEMBL
      E5RHU1

    2. XM_047421360.1 → XP_047277316.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform X1

      UniProtKB/TrEMBL
      E5RJI9
      Related
      ENSP00000430542.1, ENST00000522090.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      56116033..56150430 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359751.1 → XP_054215726.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform X2

      UniProtKB/TrEMBL
      E5RHU1

    2. XM_054359750.1 → XP_054215725.1  DGAT1/2-independent enzyme synthesizing storage lipids isoform X1

      UniProtKB/TrEMBL
      E5RJI9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MH6.2 GenPept UniProtKB/Swiss-Prot:Q96MH6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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