U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    THG1L tRNA-histidine guanylyltransferase 1 like [ Homo sapiens (human) ]

    Gene ID: 54974, updated on 5-Mar-2024

    Summary

    Official Symbol
    THG1Lprovided by HGNC
    Official Full Name
    tRNA-histidine guanylyltransferase 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26053
    See related
    Ensembl:ENSG00000113272 MIM:618802; AllianceGenome:HGNC:26053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IHG1; THG1; ICF45; IHG-1; hTHG1; SCAR28
    Summary
    The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See THG1L in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157731420..157741449)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (158250432..158260460)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157158428..157168457)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5199 Neighboring gene uncharacterized LOC105377676 Neighboring gene SOX30 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:157171083-157171583 Neighboring gene LSM11, U7 small nuclear RNA associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16564 Neighboring gene clathrin interactor 1 Neighboring gene RNA, U6 small nuclear 260, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11601, FLJ20546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleotidyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables tRNA guanylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tRNA guanylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tRNA guanylyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homotetramerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in stress-induced mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA 5'-end processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tRNA modification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tRNA modification TAS
    Traceable Author Statement
    more info
     
    involved_in tRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    part_of transferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable tRNA(His) guanylyltransferase
    Names
    induced by high glucose-1
    induced in high glucose-1
    interphase cytoplasmic foci protein 45
    NP_001304753.1
    NP_001304754.1
    NP_001304755.1
    NP_060342.2
    XP_016865092.1
    XP_054208851.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001317824.2NP_001304753.1  probable tRNA(His) guanylyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC026407, AK304590, CA426270
      UniProtKB/TrEMBL
      B4E366
      Conserved Domains (1) summary
      pfam14413
      Location:35150
      Thg1C; Thg1 C terminal domain
    2. NM_001317825.2NP_001304754.1  probable tRNA(His) guanylyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC026407, AY463216, CA426270, DA874954
      UniProtKB/TrEMBL
      Q9H8R6
      Conserved Domains (2) summary
      pfam04446
      Location:139
      Thg1; tRNAHis guanylyltransferase
      pfam14413
      Location:42157
      Thg1C; Thg1 C terminal domain
    3. NM_001317826.2NP_001304755.1  probable tRNA(His) guanylyltransferase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC026407, AY463216, CA426270, HY050784
      UniProtKB/Swiss-Prot
      Q9NWX6
      Conserved Domains (2) summary
      pfam04446
      Location:2102
      Thg1; tRNAHis guanylyltransferase
      pfam14413
      Location:105220
      Thg1C; Thg1 C terminal domain
    4. NM_017872.5NP_060342.2  probable tRNA(His) guanylyltransferase isoform 1

      See identical proteins and their annotated locations for NP_060342.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC026407, AY463216, CA426270
      Consensus CDS
      CCDS4341.1
      UniProtKB/Swiss-Prot
      D3DQJ5, Q53G12, Q7L5R3, Q9H0S2, Q9NWX6
      Related
      ENSP00000231198.7, ENST00000231198.12
      Conserved Domains (3) summary
      COG4021
      Location:31291
      Thg1; tRNA(His) 5'-end guanylyltransferase [Translation, ribosomal structure and biogenesis]
      pfam04446
      Location:38164
      Thg1; tRNAHis guanylyltransferase
      pfam14413
      Location:167282
      Thg1C; Thg1 C terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157731420..157741449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009603.3XP_016865092.1  probable tRNA(His) guanylyltransferase isoform X1

      Conserved Domains (2) summary
      pfam04446
      Location:2102
      Thg1; tRNAHis guanylyltransferase
      pfam14413
      Location:105220
      Thg1C; Thg1 C terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      158250432..158260460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352876.1XP_054208851.1  probable tRNA(His) guanylyltransferase isoform X1