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TMEM68 transmembrane protein 68 [ Homo sapiens (human) ]

Gene ID: 137695, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 4.7), prostate (RPKM 3.9) and 25 other tissues See more
Orthologs
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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: 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. 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 Variation Viewer (GRCh37.p13)

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

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

    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

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

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

Gene LinkOut

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